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James Lupski

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Anatomy

Chromosomes, Human, Pair 17

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TOP 3
N A Hanchard; James R Lupski; P L Magoulas; A L McGuire; D R Murdock; Donna M Muzny; M Wang; Yuan-Qing Wu; M Bainbridge; Richard A Gibbs; C W Brown
Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.
Teri A Manolio; Clay Marsh; David Mrazek; Michael F Murray; Peter H O'Donnell; Brad Ozenberger; Daniel J Rader; Mary V Relling; Dan M Roden; Alan R Shuldiner; David Valle; Richard Weinshilboum; Marc S Williams; Richard Wilson; David Bick; Erwin P Bottinger; Murray H Brilliant; Rex L Chisholm; Charis Eng; Kelly A Frazer; Eric D Green; Bruce Korf; David H Ledbetter; James R Lupski; Geoffrey S Ginsburg
Implementing genomic medicine in the clinic: the future is here.
Hannah Verdin; Diane Beysen; Claudia M B Carvalho; Barbara D'haene; Pablo Lapunzina; James R Lupski; Björn Menten; Julian Nevado; Yana Novikova; Tom Sante; Elfride De Baere
Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.

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2013: N A Hanchard; James R Lupski; P L Magoulas; A L McGuire; D R Murdock; Donna M Muzny; M Wang; Yuan-Qing Wu; M Bainbridge; Richard A Gibbs; C W Brown
Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.
Clinical genetics 2013;83(5):457-61.
2013: Teri A Manolio; Clay Marsh; David Mrazek; Michael F Murray; Peter H O'Donnell; Brad Ozenberger; Daniel J Rader; Mary V Relling; Dan M Roden; Alan R Shuldiner; David Valle; Richard Weinshilboum; Marc S Williams; Richard Wilson; David Bick; Erwin P Bottinger; Murray H Brilliant; Rex L Chisholm; Charis Eng; Kelly A Frazer; Eric D Green; Bruce Korf; David H Ledbetter; James R Lupski; Geoffrey S Ginsburg
Implementing genomic medicine in the clinic: the future is here.
Genetics in medicine : official journal of the American College of Medical Genetics 2013;15(4):258-67.
2013: Hannah Verdin; Diane Beysen; Claudia M B Carvalho; Barbara D'haene; Pablo Lapunzina; James R Lupski; Björn Menten; Julian Nevado; Yana Novikova; Tom Sante; Elfride De Baere
Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.
PLoS genetics 2013;9(3):e1003358.
2013: Vincent M Riccardi; James R Lupski
Duplications, deletions, and single-nucleotide variations: the complexity of genetic arithmetic.
Genetics in medicine : official journal of the American College of Medical Genetics 2013;15(3):172-3.
2013: Zhe Sun; Marjorie A Withers; Xueyuan Jia; Li Jin; Pengfei Liu; James R Lupski; Feng Zhang
Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.
Human molecular genetics 2013;22(4):749-56.
2013: Ronald Harris; Mira Jeong; Sung-Hae Kang; Jian Li; James R Lupski; Sau Wai Cheung; A Craig Chinault; Cristian Coarfa; Anna Gambin; Tomasz Gambin; Margaret A Goodell; Ankita Patel; Chad Shaw; Lisa D White; Aleksandar Milosavljevic
Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability.
PLoS genetics 2013;9(2):e1003333.
2013: Sarika U Peters; Claudia M B Carvalho; Rachel J Hundley; James R Lupski; Alison Vehorn; Zachary Warren; Amy K Wilson; Melissa B Ramocki
The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism.
Autism research : official journal of the International Society for Autism Research 2013;6(1):42-50.
2013: Seema R Lalani; Chumei Li; James R Lupski; Aamir Malik; Zhishuo Ou; Ankita Patel; Lance W Patterson; Daniel J Penny; Lorraine Potocki; Chad Shaw; Pawel Stankiewicz; Przemyslaw Szafranski; Qi Tian; Xueqing Wang; Stephanie M Ware; Runako Whittaker; Fatima M Boricha; Sau Wai Cheung; Brian Dawson; Patricia Hixson; John Lynn Jefferies; Amina Jinnah; Sung-Hae L Kang; Katarzyna Kolodziejska; Sophia Ali; Carlos A Bacino; Arthur L Beaudet; John W Belmont
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
European journal of human genetics : EJHG 2013;21(2):173-81.
2013: Piotr Dittwald; Claudia M B Carvalho; Tomasz Gambin; Claudia Gonzaga-Jauregui; James R Lupski; Pawel Stankiewicz; Anna Gambin
Inverted low-copy repeats and genome instability--a genome-wide analysis.
Human mutation 2013;34(1):210-20.
2013: Carole yauk; Scott S Auerbach; Philip Awadalla; Sean R Davis; David M DeMarini; George R Douglas; Yuri E Dubrova; Rosalie K Elespuru; Thomas W Glover; Barbara F Hales; Matthew E Hurles; Catherine B Klein; J Lucas Argueso; James R Lupski; David K Manchester; Francesco Marchetti; Alexandre Montpetit; John J Mulvihill; Bernard Robaire; Wendie A Robbins; Guy A Rouleau; Daniel T Shaughnessy; Christopher M Somers; James G Taylor; Jacquetta Trasler; Michael D Waters; Thomas E Wilson; Kristine L Witt; Jack B Bishop
Harnessing genomics to identify environmental determinants of heritable disease.
Mutation research 2013;752(1):6-9.
2013: Aimée Vester; Stephan Zuchner; Asim Beg; Leslie G Biesecker; Kenneth H Fischbeck; James R Lupski; Heather M McLaughlin; Garth Nicholson; Ricardo H Roda; Kevin Talbot; Jeffery Vance; Gisselle Velez-Ruiz; Anthony Antonellis
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
Human mutation 2013;34(1):191-9.
2013: Philip M Boone; Ian M Campbell; Sau Wai Cheung; Amy L McGuire; Ankita Patel; Sharon E Plon; Chad A Shaw; Zachry T Soens; Pawel Stankiewicz; Arthur L Beaudet; James R Lupski
Incidental copy-number variants identified by routine genome testing in a clinical population.
Genetics in medicine : official journal of the American College of Medical Genetics 2013;15(1):45-54.
2012: James R Lupski
Digenic inheritance and Mendelian disease.
Nature genetics 2012;44(12):1291-2.
2012: Anna M Migdalska; Mamunur Rashid; Alistair G Rust; Gabriela Sánchez-Andrade; Louise van der Weyden; Jacqueline K White; Mark J Arends; Ozama Ismail; Darren W Logan; James R Lupski; David J Adams
Generation of the Sotos syndrome deletion in mice.
Mammalian genome : official journal of the International Mammalian Genome Society 2012;23(11-12):749-57.
2012: Svetlana A Yatsenko; Sau Wai Cheung; Richard B Fisher; Patricia Hixson; Yu-tze Ng; Robbin Palmer; Ankita Patel; Erin K Roney; Christian P Schaaf; Daryl A Scott; James R Lupski
Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.
Human genetics 2012;131(12):1895-910.
2012: Weimin Bi; Brian S Carter; James R Lupski; Ankita Patel; Katie Plunkett; Frank J Probst; Erin K Roney; Pawel Stankiewicz; Cathy A Stevens; Misti D Williams; Joanna Wiszniewska; Sau Wai Cheung
Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.
Journal of medical genetics 2012;49(11):681-8.
2012: James R Lupski
Brain copy number variants and neuropsychiatric traits.
Biological psychiatry 2012;72(8):617-9.
2012: Ian M Campbell; Sau Wai Cheung; Amy Crunk; Cynthia Curry; Usha Dayal; Leona Fishman; Patricia Hixson; James R Lupski; Malgorzata J M Nowaczyk; Nicole Parkinson; Tyler Reimschisel; James J Riviello; Jill A Rosenfeld; Lisa G Shaffer; Pawel Stankiewicz; Matthew Thomas; James W Wheless; William Wilson; Svetlana A Yatsenko; Susan Zeesman; Bassem A Bejjani; Fernando Scaglia
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
Genetics in medicine : official journal of the American College of Medical Genetics 2012;14(10):868-76.
2012: Laura J Dumas; Ayelet Erez; Tasha Fingerlin; Jay Giedd; Jay Jackson; J G Keeney; James R Lupski; Sandesh S C Nagamani; Majesta S O'Bleness; Judith Rapoport; Armin Raznahan; Nathan Anderson; Nicola Brunetti-Pierri; Sau Wai Cheung; Jonathan M Davis; C Michael Dickens; Megan Sikela; Rachel Sugalski; James M Sikela
DUF1220-domain copy number implicated in human brain-size pathology and evolution.
American journal of human genetics 2012;91(3):444-54.
2012: Avinash V Dharmadhikari; Vickie Hannig; Sung-Hae L Kang; James R Lupski; Ankita Patel; Richard E Person; John A Phillips; Siddharth K Prakash; Tyler E Reimschisel; Srirangan Sampath; Patricia I Bader; John Belmont; Weimin Bi; Sau Wai Cheung; William J Craigen; Przemyslaw Szafranski; Sherry S Vinson; Angus A Wilfong; Misti Williams; Pawel Stankiewicz
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
Human molecular genetics 2012;21(15):3345-55.
2012: Melanie Lacaria; Richard Paylor; Corinne Spencer; Wenli Gu; James R Lupski
Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits.
Human molecular genetics 2012;21(14):3083-96.
2012: Sara Benito-Sanz; José Luis Gómez-Skarmeta; Ricardo Gracía; Pengfei Liu; James R Lupski; Beatriz Paumard-Hernández; Jose Luis Royo; Angel Campos-Barros; Ana C Barreda-Bonis; Eva Barroso; Karen E Heath
Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.
Journal of medical genetics 2012;49(7):442-50.
2012: Michael Bamshad; Eric Boerwinkle; Mark Gerstein; Richard A Gibbs; Murat Gunel; Ada Hamosh; Richard P Lifton; James R Lupski; Shrikant Mane; Deborah A Nickerson; Jay A Shendure; David Valle
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.
American journal of medical genetics. Part A 2012;158A(7):1523-5.
2012: Gabriel A Bien-Willner; Dolores López-Terrada; James R Lupski; Kayuri U Patel; John D Pfeifer; Pawel Stankiewicz; Meena B Bhattacharjee; Arie Perry
Early recurrence in standard-risk medulloblastoma patients with the common idic(17)(p11.2) rearrangement.
Neuro-oncology 2012;14(7):831-40.
2012: Pengfei Liu; Claudia M B Carvalho; P J Hastings; James R Lupski
Mechanisms for recurrent and complex human genomic rearrangements.
Current opinion in genetics & development 2012;22(3):211-20.
2012: C M B Carvalho; Ping Fang; D Pehlivan; J Shen; M Bartnik; James R Lupski
Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.
Clinical genetics 2012;81(6):532-41.
2012: Hannah C Cheung; Meena Kadapakkam; Hélène Legay; James R Lupski; Jack Meng Fen Su; Svetlana A Yatsenko; Sharon E Plon
Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma.
Pediatric blood & cancer 2012;58(5):801-5.
2012: Ricardo Leitão-Gonçalves; James R Lupski; Vincent Timmerman; Patrick Callaerts; Els De Vriendt; Biljana Ermanoska; An Jacobs; Albena Jordanova
Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT.
Amino acids 2012;42(5):1661-8.
2012: Amy Breman; Sau W Cheung; Patricia Hixson; James R Lupski; Ankita Patel; Amber N Pursley; Chad Shaw; Carlos A Bacino; Arthur Beaudet; Weimin Bi; Patricia Ward; Ignatia B Van den Veyver
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.
Prenatal diagnosis 2012;32(4):351-61.
2012: Davut Pehlivan; Claudia M B Carvalho; Matthew A Deardorff; Claudia G Gonzaga-Jauregui; Melanie Hullings; Laird G Jackson; Ian D Krantz; Elizabeth Loy; James R Lupski
NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.
Genetics in medicine : official journal of the American College of Medical Genetics 2012;14(3):313-22.
2012: Susan M Gasser; Yann Le Cam; James R Lupski; Olivier Menzel
Leap year: Rare day to highlight rare diseases.
Nature 2012;481(7381):265.
2012: Y Li; James R Lupski; Suzanne Z Powell; C A Shaw; I Sheffer; Norbert Sule; K L Bucasas; B Dawson; Rachelle S Doody; K C Wilhelmsen; S N Y Zaidi; Kinga Szigeti
Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's disease.
Translational psychiatry 2012;2():e192.
2012: Neil A Hanchard; James R Lupski; Lisa Omo-Griffith; Davut Pehlivan; Melissa B Ramocki; Christian P Schaaf; Aaron Thome; Patricia Bader; Claudia M B Carvalho; Daniela del Gaudio; Ping Fang; Sau Wai Cheung
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
BMC medical genetics 2012;13():71.
2012: Melanie Lacaria; James R Lupski; Lorraine Potocki; Pradip Saha; Katherina Walz; Jiong Yan; Weimin Bi; Brooke Burns; Lawrence Chan; Sarah H Elsea; Santhosh Girirajan; Wenli Gu
A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men.
PLoS genetics 2012;8(5):e1002713.
2012: Jian Li; James R Lupski; Ankita Patel; Chad Shaw; Lisa D White; Sau Wai Cheung; A Craig Chinault; Cristian Coarfa; Anna Gambin; Tomasz Gambin; Margaret A Goodell; Ronald Harris; Mira Jeong; Sung-Hae Kang; Aleksandar Milosavljevic
Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome.
PLoS genetics 2012;8(5):e1002692.
2012: Weimin Bi; Amy Breman; Sau Wai Cheung; Tomasz Gambin; Laird G Jackson; Xinyan Lu; James R Lupski; Chad A Shaw; Pawel Stankiewicz; Ignatia B Van den Veyver; Arthur L Beaudet
Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.
Prenatal diagnosis 2012;32(1):10-20.
2012: Charles Auffray; Timothy Caulfield; Muin J Khoury; James R Lupski; Matthias Schwab; Timothy Veenstra
Looking back at genomic medicine in 2011.
Genome medicine 2012;4(1):9.
2012: Claudia Gonzaga-Jauregui; James R Lupski; Richard A Gibbs
Human genome sequencing in health and disease.
Annual review of medicine 2012;63():35-61.
2011: Xia Wang; Kun Zhang; Richard A Lewis; Emad B Abboud; Ali A Al-Rajhi; Ming Cao; Xianfeng Chen; Richard A Gibbs; Athurva Gore; Zhe Li; James R Lupski; Graeme Mardon; Donna Muzny; Claire Patenia; Hui Wang; Rui Chen
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.
Human mutation 2011;32(12):1450-9.
2011: Claudia M B Carvalho; Sau Wai Cheung; Daniela del Gaudio; Ping Fang; Luis M Franco; Linda Friehling; Claudia Gonzaga-Jauregui; P J Hastings; Stacy Hines-Dowell; Sansan Lee; Pengfei Liu; Alanna McCall; Davut Pehlivan; Eniko Karman Pivnick; Melissa B Ramocki; Laurie H Seaver; Rosemarie Smith; Marjorie Withers; Huda Y Zoghbi; John W Belmont; James R Lupski
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
Nature genetics 2011;43(11):1074-81.
2011: Pengfei Liu; P J Hastings; Melanie Lacaria; Marjorie Withers; Feng Zhang; James R Lupski
Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.
American journal of human genetics 2011;89(4):580-8.
2011: James R Lupski; John W Belmont; Eric Boerwinkle; Richard A Gibbs
Clan genomics and the complex architecture of human disease.
Cell 2011;147(1):32-43.
2011: Emily Outwin; Marjorie A Withers; Weimin Bi; Gillian Carpenter; James R Lupski; Mark O'Driscoll
Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.
PLoS genetics 2011;7(8):e1002247.
2011: Philip M Boone; Daniel G Glaze; James R Lupski; Russel J Reiter; Dun-Xian Tan; Lorraine Potocki
Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.
American journal of medical genetics. Part A 2011;155A(8):2024-7.
2011: Philip M Boone; Wojciech Wiszniewski; James R Lupski
Genomic medicine and neurological disease.
Human genetics 2011;130(1):103-21.
2011: Matthew N Bainbridge; John K Fink; Jennifer Friedman; Marie-Claude Gingras; Claudia Gonzaga-Jauregui; Linh D Hoang; James R Lupski; Margaret B Morgan; David R Murdock; Donna M Muzny; Irene Newsham; Jeffrey G Reid; Wojciech Wiszniewski; Shahed Yousaf; Richard A Gibbs
Whole-genome sequencing for optimized patient management.
Science translational medicine 2011;3(87):87re3.
2011: Philip M Boone; Claudia M B Carvalho; Pengfei Liu; Charles F Towne; Feng Zhang; Sat Dev Batish; James R Lupski
Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.
Genetics in medicine : official journal of the American College of Medical Genetics 2011;13(6):582-92.
2011: Javier Chinen; Monica Martinez-Gallo; Wenli Gu; Montserrat Cols; Andrea Cerutti; Lin Radigan; Li Zhang; Lorraine Potocki; Marjorie Withers; James R Lupski; Charlotte Cunningham-Rundles
Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.
The Journal of allergy and clinical immunology 2011;127(6):1579-86.
2011: Pengfei Liu; Ayelet Erez; Weimin Bi; Claudia M B Carvalho; Alexandra D Simmons; Joanna Wiszniewska; Ping Fang; Patricia A Eng; M Lance Cooper; V Reid Sutton; Elizabeth R Roeder; John B Bodensteiner; Mauricio R Delgado; Siddharth K Prakash; John W Belmont; Pawel Stankiewicz; Jonathan S Berg; Marwan Shinawi; Ankita Patel; Sau Wai Cheung; Sandesh C Sreenath Nagamani; James R Lupski
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
Human molecular genetics 2011;20(10):1975-88.
2011: Claudia Soler-Alfonso; Kathleen J Motil; Catherine L Turk; Patricia Robbins-Furman; Ellen M Friedman; Feng Zhang; James R Lupski; J Kennard Fraley; Lorraine Potocki
Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive.
The Journal of pediatrics 2011;158(4):655-659.e2.
2011: Wojciech Wiszniewski; Richard Alan Lewis; David Wayne Stockton; Jianlan Peng; Graeme Mardon; Rui Chen; James R Lupski
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.
Human genetics 2011;129(3):319-27.
2011: Claudia M B Carvalho; Feng Zhang; James R Lupski
Structural variation of the human genome: mechanisms, assays, and role in male infertility.
Systems biology in reproductive medicine 2011;57(1-2):3-16.
2011: Charles Auffray; Timothy Caulfield; Muin J Khoury; James R Lupski; Matthias Schwab; Timothy Veenstra
Genome Medicine: past, present and future.
Genome medicine 2011;3(1):6.
2011: Zhishuo Ou; Pawel Stankiewicz; Zhilian Xia; Amy M Breman; Brian Dawson; Joanna Wiszniewska; Przemyslaw Szafranski; M Lance Cooper; Mitchell Rao; Lina Shao; Sarah T South; Karlene Coleman; Paul M FERNHOFF; Marcel J Deray; Sally Rosengren; Elizabeth R Roeder; Victoria B Enciso; A Craig Chinault; Ankita Patel; Sung-Hae L Kang; Chad A Shaw; James R Lupski; Sau Wai Cheung
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
Genome research 2011;21(1):33-46.
2010: James R Lupski
New mutations and intellectual function.
Nature genetics 2010;42(12):1036-8.
2010: Magdalena Ratajska; Jolanta Wierzba; Davut Pehlivan; Zhilian Xia; Ellen K Brundage; Sau Wai Cheung; Pawel Stankiewicz; James R Lupski; Janusz Limon
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.
European journal of medical genetics 2010;53(6):378-82.
2010: Heather M McLaughlin; Reiko Sakaguchi; Cuiping Liu; Takao Igarashi; Davut Pehlivan; Kristine Chu; Ram Iyer; Pedro Cruz; Praveen F Cherukuri; Nancy F Hansen; James C Mullikin; Leslie G Biesecker; Thomas E Wilson; Victor Ionasescu; Garth Nicholson; Charles Searby; Kevin Talbot; Jeffery Vance; Stephan Zuchner; Kinga Szigeti; James R Lupski; Ya-Ming Hou; Eric D Green; Anthony Antonellis
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
American journal of human genetics 2010;87(4):560-6.
2010: Claudia Gonzaga-Jauregui; Feng Zhang; Charles F Towne; Sat Dev Batish; James R Lupski
GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.
Neurogenetics 2010;11(4):465-70.
2010: Ayman W El-Hattab; Feng Zhang; Rolanda Maxim; Katherine M Christensen; Jewell C Ward; Stacy Hines-Dowell; Fernando Scaglia; James R Lupski; Sau Wai Cheung
Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(9):573-86.
2010: James R Lupski
Interruption of SOX10 function in myelinopathies.
Annals of neurology 2010;68(2):121-3.
2010: James R Lupski
Retrotransposition and structural variation in the human genome.
Cell 2010;141(7):1110-2.
2010: Feng Zhang; Pavel Seeman; Pengfei Liu; Marian A J Weterman; Claudia Gonzaga-Jauregui; Charles F Towne; Sat Dev Batish; Els De Vriendt; Peter De Jonghe; Bernd Rautenstrauss; Klaus-Henning Krause; Mehrdad Khajavi; Jan Posadka; Antoon Vandenberghe; Francesc Palau; Lionel Van Maldergem; Frank Baas; Vincent Timmerman; James R Lupski
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.
American journal of human genetics 2010;86(6):892-903.
2010: Oleg A Shchelochkov; Sau Wai Cheung; James R Lupski
Genomic and clinical characteristics of microduplications in chromosome 17.
American journal of medical genetics. Part A 2010;152A(5):1101-10.
2010: Amy L McGuire; James R Lupski
Personal genome research : what should the participant be told?
Trends in genetics : TIG 2010;26(5):199-201.
2010: Sung-Hae L Kang; Chad Shaw; Zhishuo Ou; Patricia A Eng; M Lance Cooper; Amber N Pursley; Trilochan Sahoo; Carlos A Bacino; A Craig Chinault; Pawel Stankiewicz; Ankita Patel; James R Lupski; Sau Wai Cheung
Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.
American journal of medical genetics. Part A 2010;152A(5):1111-26.
2010: Marwan Shinawi; Pengfei Liu; Sung-Hae L Kang; Joseph Shen; John W Belmont; Daryl A Scott; Frank J Probst; William J Craigen; Brett H Graham; Amber Pursley; Gary Clark; Jennifer Lee; Monica Proud; Amber Stocco; Diana L Rodriguez; Beth A Kozel; Steven P Sparagana; Elizabeth R Roeder; Susan G McGrew; Thaddeus W Kurczynski; Leslie J Allison; Stephen Amato; Sarah Savage; Ankita Patel; Pawel Stankiewicz; Arthur L Beaudet; Sau Wai Cheung; James R Lupski
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Journal of medical genetics 2010;47(5):332-41.
2010: James R Lupski; Jeffrey G Reid; Claudia Gonzaga-Jauregui; David Rio Deiros; David C Y Chen; Lynne Nazareth; Matthew Bainbridge; Huyen Dinh; Chyn Jing; David A Wheeler; Amy L McGuire; Feng Zhang; Pawel Stankiewicz; John J Halperin; Chengyong Yang; Curtis Gehman; Danwei Guo; Rola K Irikat; Warren Tom; Nick J Fantin; Donna M Muzny; Richard A Gibbs
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
The New England journal of medicine 2010;362(13):1181-91.
2010: Feng Zhang; Lorraine Potocki; Jacinda B Sampson; Pengfei Liu; Amarilis Sanchez-Valle; Patricia Robbins-Furman; Alicia Delicado Navarro; Patricia G Wheeler; J Edward Spence; Campbell K Brasington; Marjorie Withers; James R Lupski
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
American journal of human genetics 2010;86(3):462-70.
2010: Luis M Franco; Thomy de Ravel; Brett H Graham; Stephanie M Frenkel; Jozef Van Driessche; Pawel Stankiewicz; James R Lupski; Joris R Vermeesch; Sau Wai Cheung
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
European journal of human genetics : EJHG 2010;18(2):258-61.
2010: Claudia M B Carvalho; Feng Zhang; James R Lupski
Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.
Proceedings of the National Academy of Sciences of the United States of America 2010;107 Suppl 1():1765-71.
2010: Anthony Antonellis; Megan Y Dennis; Grzegorz Burzynski; Jimmy Huynh; Valerie Maduro; Chani J Hodonsky; Mehrdad Khajavi; Kinga Szigeti; Sandeep Mukkamala; Seneca L Bessling; william pavan; Andy McCallion; James R Lupski; Eric D Green
A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.
PloS one 2010;5(12):e14346.
2010: Guénola Ricard; Jessica Molina; Jacqueline Chrast; Wenli Gu; Nele Gheldof; Sylvain Pradervand; Frédéric Schütz; Juan I. Young; James R Lupski; Alexandre Reymond; Katherina Walz
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.
PLoS biology 2010;8(11):e1000543.
2010: Pawel Stankiewicz; James R Lupski
Structural variation in the human genome and its role in disease.
Annual review of medicine 2010;61():437-55.
2009: Melissa B Ramocki; Sarika U Peters; Y Jane Tavyev; Feng Zhang; Claudia M B Carvalho; Christian P Schaaf; Ronald Richman; Ping Fang; Daniel G Glaze; James R Lupski; Huda Y Zoghbi
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.
Annals of neurology 2009;66(6):771-82.
2009: Melissa K Boles; Bonney M Wilkinson; Laurens G Wilming; Bin Liu; Frank J Probst; Jennifer Harrow; Darren Grafham; Kathryn E Hentges; Lanette P Woodward; Andrea Maxwell; Karen Mitchell; Michael D Risley; Randy Johnson; Karen Hirschi; James R Lupski; Yosuke Funato; Hiroaki Miki; pablo marin-garcia; Lucy Matthews; Alison J Coffey; Anne Parker; Tim J Hubbard; Jane Rogers; Allan Bradley; David J Adams; Monica J Justice
Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.
PLoS genetics 2009;5(12):e1000759.
2009: S C Sreenath Nagamani; F Zhang; O A Shchelochkov; Weimin Bi; Zhishuo Ou; Fernando Scaglia; F J Probst; Marwan Shinawi; Christine M Eng; Jill V Hunter; Steven P Sparagana; E Lagoe; Chin-To Fong; M Pearson; M Doco-Fenzy; E Landais; M Mozelle; A Craig Chinault; Ankita Patel; Carlos A Bacino; Trilochan Sahoo; Sung-Hae Lee Kang; Sau Wai Cheung; James R Lupski; Pawel Stankiewicz
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
Journal of medical genetics 2009;46(12):825-33.
2009: Ayman W El-Hattab; Teresa Anne Smolarek; Martha E Walker; Elizabeth K Schorry; LaDonna L Immken; Gayle Patel; Mary-Alice Abbott; Brendan C Lanpher; Zhishuo Ou; Sung-Hae L Kang; Ankita Patel; Fernando Scaglia; James R Lupski; Sau Wai Cheung; Pawel Stankiewicz
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Human genetics 2009;126(4):589-602.
2009: Alejandro Leal; Kathrin Huehne; Finn Bauer; Heinrich Sticht; Philipp Berger; Ueli Suter; Bernal Morera; Gerardo Del Valle; James R Lupski; Arif B Ekici; Francesca Pasutto; Sabine Endele; Ramiro Barrantes; Corinna Berghoff; Martin Berghoff; Bernhard Neundörfer; Dieter Heuss; Thomas Dorn; Peter Young; Lisa Santolin; Thomas Uhlmann; Michael Meisterernst; Michael Werner Sereda; Michael Sereda; Ruth Martha Stassart; Klaus-Armin Nave; André Reis; Gerd Meyer zu Horste; Bernd Rautenstrauss
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.
Neurogenetics 2009;10(4):275-87.
2009: Philip J Hastings; James R Lupski; Susan M Rosenberg; Grzegorz Ira
Mechanisms of change in gene copy number.
Nature reviews. Genetics 2009;10(8):551-64.
2009: Feng Zhang; Claudia M B Carvalho; James R Lupski
Complex human chromosomal and genomic rearrangements.
Trends in genetics : TIG 2009;25(7):298-307.
2009: Feng Zhang; Mehrdad Khajavi; Anne M Connolly; Charles F Towne; Sat Dev Batish; James R Lupski
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.
Nature genetics 2009;41(7):849-53.
2009: Claudia M B Carvalho; Feng Zhang; Pengfei Liu; Ankita Patel; Trilochan Sahoo; Carlos A Bacino; Chad Shaw; Sandra Peacock; Amber Pursley; Y Jane Tavyev; Melissa B Ramocki; Magdalena Nawara; Ewa Obersztyn; Angela M Vianna-Morgante; Pawel Stankiewicz; Huda Y Zoghbi; Sau Wai Cheung; James R Lupski
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
Human molecular genetics 2009;18(12):2188-203.
2009: Svetlana A Yatsenko; Ellen K Brundage; Erin K Roney; Sau Wai Cheung; A Craig Chinault; James R Lupski
Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.
Human molecular genetics 2009;18(11):1924-36.
2009: S Ben-Shachar; B Lanpher; J R German; M Qasaymeh; Lorraine Potocki; S C Sreenath Nagamani; L M Franco; A Malphrus; G W Bottenfield; J E Spence; S Amato; J A Rousseau; B Moghaddam; C Skinner; S A Skinner; S Bernes; N Armstrong; Marwan Shinawi; Pawel Stankiewicz; Ankita Patel; Sau Wai Cheung; James R Lupski; Arthur L Beaudet; Trilochan Sahoo
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
Journal of medical genetics 2009;46(6):382-8.
2009: Kinga Szigeti; James R Lupski
Charcot-Marie-Tooth disease.
European journal of human genetics : EJHG 2009;17(6):703-10.
2009: Svetlana A Yatsenko; Chad A Shaw; Zhishuo Ou; Amber N Pursley; Ankita Patel; Weimin Bi; Sau Wai Cheung; James R Lupski; A Craig Chinault; Arthur L Beaudet
Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA.
The Journal of molecular diagnostics : JMD 2009;11(3):226-37.
2009: Sandesh Chakravarthy Sreenath Nagamani; Ayelet Erez; Christine Eng; Zhishuo Ou; Craig Chinault; Laura Workman; James Coldwell; Pawel Stankiewicz; Ankita Patel; James R Lupski; Sau Wai Cheung
Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.
European journal of human genetics : EJHG 2009;17(5):573-81.
2009: S Ben-Shachar; Mehrdad Khajavi; Marjorie Withers; Chad A Shaw; H van Bokhoven; H G Brunner; James R Lupski
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?
Clinical genetics 2009;75(4):394-400.
2009: Hui Wang; Anneke I den Hollander; Yalda Moayedi; Abuduaini Abulimiti; Yumei Li; Rob W J Collin; Carel B Hoyng; Irma Lopez; Emad B Abboud; Ali A Al-Rajhi; Molly S Bray; Richard Alan Lewis; James R Lupski; Graeme Mardon; Robert K Koenekoop; Rui Chen
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
American journal of human genetics 2009;84(3):380-7.
2009: Yumei Li; Hui Wang; Jianlan Peng; Richard A Gibbs; Richard Alan Lewis; James R Lupski; Graeme Mardon; Rui Chen
Mutation survey of known LCA genes and loci in the Saudi Arabian population.
Investigative ophthalmology & visual science 2009;50(3):1336-43.
2009: Weimin Bi; Tamar Sapir; Oleg A Shchelochkov; Feng Zhang; Marjorie Withers; Jill V Hunter; Talia Levy; Vera Shinder; Daniel A Peiffer; Kevin L Gunderson; Marjan M Nezarati; Vern Ann Shotts; Stephen S Amato; Sarah K Savage; David J Harris; Debra-Lynn Day-Salvatore; Michele Horner; Xin-Yan Lu; Trilochan Sahoo; Yuchio Yanagawa; Arthur L Beaudet; Sau Wai Cheung; Salvador Martinez; James R Lupski; Orly Reiner
Increased LIS1 expression affects human and mouse brain development.
Nature genetics 2009;41(2):168-77.
2009: Feng Zhang; Wenli Gu; Matthew E Hurles; James R Lupski
Copy number variation in human health, disease, and evolution.
Annual review of genomics and human genetics 2009;10():451-81.
2009: James R Lupski
Genomic disorders ten years on.
Genome medicine 2009;1(4):42.
2009: Philip J Hastings; Grzegorz Ira; James R Lupski
A microhomology-mediated break-induced replication model for the origin of human copy number variation.
PLoS genetics 2009;5(1):e1000327.
2009: Ignatia B Van den Veyver; Ankita Patel; Chad A Shaw; Amber N Pursley; Sung-Hae L Kang; Marcia J Simovich; Patricia A Ward; Sandra Darilek; Anthony Johnson; Sarah E Neill; Weimin Bi; Lisa D White; Christine M Eng; James R Lupski; Sau Wai Cheung; Arthur L Beaudet
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.
Prenatal diagnosis 2009;29(1):29-39.
2008: Xin-Yan Lu; Mai T Phung; Chad A Shaw; Kim Pham; Sarah E Neil; Ankita Patel; Trilochan Sahoo; Carlos A Bacino; Pawel Stankiewicz; Sung-Hae Lee Kang; Seema R Lalani; A Craig Chinault; James R Lupski; Sau Wai Cheung; Arthur L Beaudet
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.
Pediatrics 2008;122(6):1310-8.
2008: Claudia M B Carvalho; James R Lupski
Copy number variation at the breakpoint region of isochromosome 17q.
Genome research 2008;18(11):1724-32.
2008: James R Lupski
Schizophrenia: Incriminating genomic evidence.
Nature 2008;455(7210):178-9.
2008: Lina Shao; Chad A Shaw; Xin-Yan Lu; Trilochan Sahoo; Carlos A Bacino; Seema R Lalani; Pawel Stankiewicz; Svetlana A Yatsenko; Yinfeng Li; Sarah Neill; Amber N Pursley; A Craig Chinault; Ankita Patel; Arthur L Beaudet; James R Lupski; Sau Wai Cheung
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
American journal of medical genetics. Part A 2008;146A(17):2242-51.
2008: Jessica Molina; Paulina Carmona-Mora; Jacqueline Chrast; Paola M Krall; César P Canales; James R Lupski; Alexandre Reymond; Katherina Walz
Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.
Human molecular genetics 2008;17(16):2486-95.
2008: Jonathan Tobin; Matt Di Franco; Erica Eichers; Helen May-Simera; Monica Garcia; Jiong Yan; Robyn Quinlan; Monica J Justice; Raoul Hennekam; James Briscoe; Masazumi Tada; Roberto Mayor; Alan J Burns; James R Lupski; Peter Hammond; Philip L Beales
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(18):6714-9.
2008: James R Lupski
Allan Award Introduction: Arthur L. Beaudet.
American journal of human genetics 2008;82(5):1032-3.
2008: David A Wheeler; Maithreyan Srinivasan; Michael Egholm; Yufeng Shen; Lei Chen; Amy McGuire; Wen He; Yi-Ju Chen; Vinod Makhijani; G Thomas Roth; Xavier Gomes; Karrie Tartaro; Faheem Niazi; Cynthia L Turcotte; Gerard P Irzyk; James R Lupski; Craig Chinault; Xing-zhi Song; Yue Liu; Ye Yuan; Lynne Nazareth; Xiang Qin; Donna M Muzny; Marcel Margulies; George Weinstock; Richard A Gibbs; Jonathan M Rothberg
The complete genome of an individual by massively parallel DNA sequencing.
Nature 2008;452(7189):872-6.
2008: Zhishuo Ou; Jonathan S Berg; Hagith Yonath; Victoria B Enciso; David T Miller; Jonathan Picker; Tiffanee Lenzi; Catherine E Keegan; V Reid Sutton; John W Belmont; A Craig Chinault; James R Lupski; Sau Wai Cheung; Elizabeth Roeder; Ankita Patel
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(4):267-77.
2008: Martine Doco-Fenzy; Muriel Holder-Espinasse; Eric Bieth; Corinne Magdelaine; Marie-Claire Vincent; Maroun Khoury; Joris Andrieux; Feng Zhang; James R Lupski; Rabih Klink; Anouck Schneider; Odile Goze-Martineau; Jean-Marie Cuisset; Louis Vallee; Sylvie MANOUVRIER; Dominique Gaillard; Bérengère de Martinville
The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients.
American journal of medical genetics. Part A 2008;146(7):917-24.
2008: Mehrdad Khajavi; James R Lupski
Balancing between adaptive and maladaptive cellular stress responses in peripheral neuropathy.
Neuron 2008;57(3):329-30.
2008: W Gu; James R Lupski
CNV and nervous system diseases--what's new?
Cytogenetic and genome research 2008;123(1-4):54-64.
2008: Wenli Gu; Feng Zhang; James R Lupski
Mechanisms for human genomic rearrangements.
PathoGenetics 2008;1(1):4.
2008: Shay Ben-Shachar; Zhishuo Ou; Chad A Shaw; John W Belmont; Millan S Patel; Marybeth Hummel; Stephen Amato; Nicole Tartaglia; Jonathan S Berg; V Reid Sutton; Seema R Lalani; A Craig Chinault; Sau Wai Cheung; James R Lupski; Ankita Patel
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
American journal of human genetics 2008;82(1):214-21.
2007: Jennifer A Lee; Claudia M B Carvalho; James R Lupski
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders.
Cell 2007;131(7):1235-47.
2007: Ken Inoue; Tomoko Ohyama; Yosuke Sakuragi; Ryoko Yamamoto; Naoko A Inoue; Li-Hua Yu; Yu Li-Hua; Yu-ichi Goto; Michael Wegner; James R Lupski
Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.
Human molecular genetics 2007;16(24):3037-46.
2007: Muhammad M Abd-El-Barr; Kristen Sykoudis; Sara Andrabi; Erica R Eichers; Mark Pennesi; Perciliz L Tan; John H Wilson; Nicholas Katsanis; James R Lupski; Samuel M Wu
Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome.
Vision research 2007;47(27):3394-407.
2007: James R Lupski
An evolution revolution provides further revelation.
BioEssays : news and reviews in molecular, cellular and developmental biology 2007;29(12):1182-4.
2007: Marcia J Simovich; Svetlana A Yatsenko; Sung-Hae L Kang; Sau Wai Cheung; Martha E Dudek; Amber Pursley; Patricia A Ward; Ankita Patel; James R Lupski
Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation.
Prenatal diagnosis 2007;27(12):1112-7.
2007: Kinga Szigeti; Wojciech Wiszniewski; Gulam Mustafa Saifi; Diane L Sherman; Norbert Sule; Adekunle M Adesina; Pedro Mancias; Sozos Ch Papasozomenos; Geoffrey Miller; Laura Keppen; Donna Daentl; Peter J Brophy; James R Lupski
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.
Neurogenetics 2007;8(4):257-62.
2007: Melanie Babcock; Svetlana A Yatsenko; Janet Hopkins; Matthew Brenton; Qing Cao; Pieter de Jong; Pawel Stankiewicz; James R Lupski; James M Sikela; Bernice E Morrow
Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome.
Human molecular genetics 2007;16(21):2560-71.
2007: Mehrdad Khajavi; Kensuke Shiga; Wojciech Wiszniewski; Feng He; Chad A Shaw; Jiong Yan; Theodore G Wensel; G Jackson Snipes; James R Lupski
Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.
American journal of human genetics 2007;81(3):438-53.
2007: Sau Wai Cheung; Chad A Shaw; Daryl A Scott; Ankita Patel; Trilochan Sahoo; Carlos A Bacino; Amber Pursley; Jiangzhen Li; Robert Erickson; Andrea Gropman; David T Miller; Margretta R Seashore; Anne M Summers; Pawel Stankiewicz; A Craig Chinault; James R Lupski; Arthur L Beaudet; V Reid Sutton
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.
American journal of medical genetics. Part A 2007;143A(15):1679-86.
2007: Weimin Bi; Jiong Yan; Xin Shi; Lisa A Yuva-Paylor; Barbara Antalffy; Alica Goldman; Jong W Yoo; Jeffrey L Noebels; Dawna L Armstrong; Richard Paylor; James R Lupski
Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.
Human molecular genetics 2007;16(15):1802-13.
2007: Marta Smyk; Jonathan S Berg; Amber Pursley; Fiona K Curtis; Bridget A Fernandez; Gabriel A Bien-Willner; James R Lupski; Sau Wai Cheung; Pawel Stankiewicz
Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).
Human genetics 2007;122(1):63-70.
2007: Clement Y Chow; Yanling Zhang; James Dowling; Natsuko Jin; Maja Adamska; Kensuke Shiga; Kinga Szigeti; chris hall; Jun Li; Xuebao Zhang; James R Lupski; Lois S Weisman; Miriam H Meisler
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
Nature 2007;448(7149):68-72.
2007: Jonathan S Berg; Nicola Brunetti-Pierri; Sarika U Peters; Sung-Hae L Kang; Chin-To Fong; Jessica Salamone; Debra Freedenberg; Vickie L Hannig; Lisa Albers Prock; David T Miller; Peter Raffalli; David J Harris; Robert P Erickson; Christopher Cunniff; Gary D Clark; Maria A Blazo; Daniel A Peiffer; Kevin L Gunderson; Trilochan Sahoo; Ankita Patel; James R Lupski; Arthur L Beaudet; Sau Wai Cheung
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(7):427-41.
2007: Adrian Gherman; Peter E Chen; Tanya M Teslovich; Pawel Stankiewicz; Marjorie Withers; Carl S Kashuk; Aravinda Chakravarti; James R Lupski; David J Cutler; Nicholas Katsanis
Population bottlenecks as a potential major shaping force of human genome architecture.
PLoS genetics 2007;3(7):e119.
2007: James R Lupski
Genomic rearrangements and sporadic disease.
Nature genetics 2007;39(7 Suppl):S43-7.
2007: Lisenka E L M Vissers; Pawel Stankiewicz; Svetlana A Yatsenko; E Crawford; H Creswick; V K Proud; Bert B A de Vries; Rolph Pfundt; C L M Marcelis; J Zackowski; Weimin Bi; Ad Geurts van Kessel; James R Lupski; Joris Veltman
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.
Human genetics 2007;121(6):697-709.
2007: E A Edelman; Santhosh Girirajan; Brenda Finucane; Pragna I Patel; James R Lupski; A C M Smith; Sarah H Elsea
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.
Clinical genetics 2007;71(6):540-50.
2007: Gabriel A Bien-Willner; Pawel Stankiewicz; James R Lupski
SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway.
Human molecular genetics 2007;16(10):1143-56.
2007: Evan E Eichler; Deborah A Nickerson; David Altshuler; Anne M Bowcock; Lisa D Brooks; Nigel P Carter; Deanna M Church; Adam Felsenfeld; Mark Guyer; Charles Lee; James R Lupski; James C Mullikin; Jonathan Pritchard; Jonathan Sebat; Stephen T Sherry; Douglas Smith; David Valle; Robert H Waterston
Completing the map of human genetic variation.
Nature 2007;447(7141):161-5.
2007: Wojciech Wiszniewski; Richard Alan Lewis; James R Lupski
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.
Human genetics 2007;121(3-4):433-9.
2007: Daniel B Magner; Matthew D Blankschien; Jennifer A Lee; Jeanine M Pennington; James R Lupski; Susan M Rosenberg
RecQ promotes toxic recombination in cells lacking recombination intermediate-removal proteins.
Molecular cell 2007;26(2):273-86.
2007: Lorraine Potocki; Weimin Bi; Diane Treadwell-Deering; Claudia M B Carvalho; Anna Eifert; Ellen M Friedman; Daniel G Glaze; Kevin Krull; Jennifer A Lee; Richard Alan Lewis; Roberto Mendoza-Londono; Patricia Robbins-Furman; Chad Shaw; Xin Shi; George Weissenberger; Marjorie Withers; Svetlana A Yatsenko; Elaine H Zackai; Pawel Stankiewicz; James R Lupski
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
American journal of human genetics 2007;80(4):633-49.
2007: Weining Lu; Albertien M van Eerde; Xueping Fan; Fabiola Quintero-Rivera; Shashikant Kulkarni; Heather Ferguson; Hyung-Goo Kim; Yanli Fan; Qiongchao Xi; Qing-Gang Li; Damien Sanlaville; William Andrews; Vasi Sundaresan; Weimin Bi; Jiong Yan; Jacques C Giltay; Cisca Wijmenga; Tom de Jong; Sally A Feather; Adrian S Woolf; Yi Rao; James R Lupski; Michael Eccles; Bradley J Quade; James Gusella; Cynthia C Morton; Richard L Maas
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
American journal of human genetics 2007;80(4):616-32.
2007: Melanie Babcock; Svetlana A Yatsenko; Pawel Stankiewicz; James R Lupski; Bernice E Morrow
AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.
Genome research 2007;17(4):451-60.
2007: James R Lupski
Structural variation in the human genome.
The New England journal of medicine 2007;356(11):1169-71.
2007: Jiong Yan; Weimin Bi; James R Lupski
Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike.
American journal of human genetics 2007;80(3):518-25.
2007: Xinyan Lu; Chad A Shaw; Ankita Patel; Jiangzhen Li; M Lance Cooper; William R Wells; Cathy M Sullivan; Trilochan Sahoo; Svetlana A Yatsenko; Carlos A Bacino; Pawel Stankiewicz; Zhishuo Ou; A Craig Chinault; Arthur L Beaudet; James R Lupski; Sau Wai Cheung; Patricia A Ward
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.
PloS one 2007;2(3):e327.
2007: Michael Leipoldt; Martin Erdel; Gabriel A Bien-Willner; Marta Smyk; Markus Theurl; Svetlana A Yatsenko; James R Lupski; Andrew lane; Alan L Shanske; Pawel Stankiewicz; Gerd Scherer
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia.
Clinical genetics 2007;71(1):67-75.
2006: Daniela del Gaudio; Ping Fang; Fernando Scaglia; Patricia A Ward; William J Craigen; Daniel G Glaze; Jeffrey L Neul; Ankita Patel; Jennifer A Lee; Mira Irons; Susan A Berry; Amber Pursley; Theresa A Grebe; Debra Freedenberg; Rick A Martin; Gary E Hsich; Jena R Khera; Neil R Friedman; Huda Y Zoghbi; Christine M Eng; James R Lupski; Arthur L Beaudet; Sau Wai Cheung; Benjamin B Roa
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(12):784-92.
2006: Weimin Bi; Gulam Mustafa Saifi; Santhosh Girirajan; Xin Shi; Barbara Szomju; Helen Firth; R Ellen Magenis; Lorraine Potocki; Sarah H Elsea; James R Lupski
RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.
American journal of medical genetics. Part A 2006;140(22):2454-63.
2006: Sarah J Lindsay; Mehrdad Khajavi; James R Lupski; Matthew E Hurles
A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination.
American journal of human genetics 2006;79(5):890-902.
2006: Katherina Walz; Richard Paylor; Jiong Yan; Weimin Bi; James R Lupski
Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).
The Journal of clinical investigation 2006;116(11):3035-41.
2006: Jennifer A Lee; James R Lupski
Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders.
Neuron 2006;52(1):103-21.
2006: Mehrdad Khajavi; Ken Inoue; James R Lupski
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease.
European journal of human genetics : EJHG 2006;14(10):1074-81.
2006: James R Lupski
Genome structural variation and sporadic disease traits.
Nature genetics 2006;38(9):974-6.
2006: Erica R Eichers; Muhammad M Abd-El-Barr; Richard Paylor; Richard Alan Lewis; Weimin Bi; Xiaodi Lin; Thomas P Meehan; David Wayne Stockton; Samuel M Wu; Elizabeth Lindsay; Monica J Justice; Philip L Beales; Nicholas Katsanis; James R Lupski
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.
Human genetics 2006;120(2):211-26.
2006: Zhishuo Ou; Malgorzata Jarmuz; Steven P Sparagana; Jacques Michaud; Jean-Claude Décarie; Svetlana A Yatsenko; Beata Nowakowska; Patti Furman; Chad A Shaw; Lisa Shaffer; James R Lupski; A Craig Chinault; Sau Wai Cheung; Pawel Stankiewicz
Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.
Human genetics 2006;120(2):227-37.
2006: Jennifer A Lee; Ken Inoue; Sau Wai Cheung; Chad A Shaw; Pawel Stankiewicz; James R Lupski
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
Human molecular genetics 2006;15(14):2250-65.
2006: Jiong Yan; Gulam Mustafa Saifi; Tomasz Wierzba; Marjorie Withers; Gabriel A Bien-Willner; Janusz Limon; Pawel Stankiewicz; James R Lupski; Jolanta Wierzba
Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.
American journal of medical genetics. Part A 2006;140(14):1531-41.
2006: Niru Madduri; Sarika U Peters; Robert G Voigt; Antolin M Llorente; James R Lupski; Lorraine Potocki
Cognitive and adaptive behavior profiles in Smith-Magenis syndrome.
Journal of developmental and behavioral pediatrics : JDBP 2006;27(3):188-92.
2006: Carla Bidinost; Natalie Hernandez; Deepak P Edward; Ali A Al-Rajhi; Richard Alan Lewis; James R Lupski; David Wayne Stockton; Bassem A Bejjani
Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.
Investigative ophthalmology & visual science 2006;47(4):1486-90.
2006: Pawel Stankiewicz; Alma Kuechler; C Daniel Eller; Trilochan Sahoo; Christiane Baldermann; Ulla Lieser; Martin Hesse; Christiane Gläser; Monika Hagemann; Svetlana A Yatsenko; Thomas Liehr; Bernhard Horsthemke; Uwe Claussen; York Marahrens; James R Lupski; Ingo Hansmann
Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation.
American journal of medical genetics. Part A 2006;140(5):442-52.
2006: Alica M Goldman; Lorraine Potocki; Katherina Walz; Jennifer K Lynch; Daniel G Glaze; James R Lupski; Jeffrey L Noebels
Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)].
Journal of child neurology 2006;21(2):93-8.
2006: Kinga Szigeti; Carlos A Garcia; James R Lupski
Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(2):86-92.
2006: chris hall; Mena Scavina; Alisa Clark; Karen M Krajewski; Jun Li; John Kamholz; Edwin Kolodny; Kinga Szigeti; Richard A Fischer; Gulam Mustafa Saifi; Steven S Scherer; James R Lupski
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
Annals of neurology 2006;59(2):358-64.
2006: Jennifer A Lee; Ricardo E Madrid; Karen Sperle; Carolyn M Ritterson; Grace M Hobson; James Y Garbern; James R Lupski; Ken Inoue
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.
Annals of neurology 2006;59(2):398-403.
2006: Kinga Szigeti; Eva Nelis; James R Lupski
Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.
Neuromolecular medicine 2006;8(1-2):243-54.
2006: Vincent Timmerman; James R Lupski; Peter De Jonghe
Molecular genetics, biology, and therapy for inherited peripheral neuropathies.
Neuromolecular medicine 2006;8(1-2):1-2.
2005: Debra A Thompson; Andreas R Janecke; Jessica Lange; Kecia L Feathers; Christian A Hübner; Christina L McHenry; David Wayne Stockton; Gabriele Rammesmayer; James R Lupski; Guillermo Antinolo; Carmen Ayuso; Montserrat Baiget; Peter Gouras; John R Heckenlively; Anneke I den Hollander; Samuel G Jacobson; Richard A Lewis; Paul Sieving; Bernd Wissinger; Suzanne Yzer; Eberhart Zrenner; Gerd Utermann; Andreas Gal
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
Human molecular genetics 2005;14(24):3865-75.
2005: James R Lupski; Pawel Stankiewicz
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.
PLoS genetics 2005;1(6):e49.
2005: Jennifer A Lee; Sau Wai Cheung; Patricia A Ward; Ken Inoue; James R Lupski
Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization.
Prenatal diagnosis 2005;25(13):1188-91.
2005: Vijay S Tonk; Golder N Wilson; Svetlana A Yatsenko; Pawel Stankiewicz; James R Lupski; Robert C Schutt; Jill K Northup; Gopalrao Velagaleti
Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype.
American journal of medical genetics. Part A 2005;139A(2):136-40.
2005: Mehrdad Khajavi; Ken Inoue; Wojciech Wiszniewski; Tomoko Ohyama; G Jackson Snipes; James R Lupski
Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.
American journal of human genetics 2005;77(5):841-50.
2005: Katarzyna Borg; Pawel Stankiewicz; Ewa Bocian; Anna Kruczek; Ewa Obersztyn; James R Lupski; Tadeusz Mazurczak
Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.
Human genetics 2005;118(2):267-75.
2005: Alison J Ross; Helen May-Simera; Erica R Eichers; Masatake Kai; Josephine Hill; Daniel J Jagger; Carmen C Leitch; J Paul Chapple; Peter M G Munro; Shannon Fisher; Perciliz L Tan; Helen M Phillips; Michel R Leroux; Deborah J Henderson; Jennifer N Murdoch; Andrew J Copp; Marie-Madeleine Eliot; James R Lupski; David T Kemp; Hélène Dollfus; Masazumi Tada; Nicholas Katsanis; Andrew Forge; Philip L Beales
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
Nature genetics 2005;37(10):1135-40.
2005: Svetlana A Yatsenko; Diane Treadwell-Deering; Kevin Krull; Richard Alan Lewis; Daniel G Glaze; Pawel Stankiewicz; James R Lupski; Lorraine Potocki
Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.
American journal of medical genetics. Part A 2005;138A(2):175-80.
2005: Wojciech Wiszniewski; Charles M Zaremba; Alexander N Yatsenko; Milan Jamrich; Theodore G Wensel; Richard Alan Lewis; James R Lupski
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
Human molecular genetics 2005;14(19):2769-78.
2005: Pawel Stankiewicz; Hannelore Thiele; Mike Schlicker; Andrea Cseke-Friedrich; Sylva Bartel-Friedrich; Svetlana A Yatsenko; James R Lupski; Ingo Hansmann
Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.
American journal of medical genetics. Part A 2005;138(1):11-7.
2005: Naohiro Kurotaki; Joseph J Shen; Mayumi Touyama; Tatsuro Kondoh; Remco Visser; Takao Ozaki; Junji Nishimoto; Takashi Shiihara; Kimiaki Uetake; Yoshio Makita; Naoki Harada; Salmo Raskin; Chester W Brown; Pia Höglund; Nobuhiko Okamoto; James R Lupski
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.
Genetics in medicine : official journal of the American College of Medical Genetics 2005;7(7):479-83.
2005: Gabriel A Bien-Willner; Pawel Stankiewicz; James R Lupski; Jill K Northup; Gopalrao Velagaleti
Interphase FISH screening for the LCR-mediated common rearrangement of isochromosome 17q in primary myelofibrosis.
American journal of hematology 2005;79(4):309-13.
2005: Sau Wai Cheung; Chad A Shaw; Wei Yu; Jiangzham Li; Zhishuo Ou; Ankita Patel; Svetlana A Yatsenko; M Lance Cooper; Patti Furman; Pawel Stankiewicz; Pawal Stankiewicz; James R Lupski; A Craig Chinault; Arthur L Beaudet
Development and validation of a CGH microarray for clinical cytogenetic diagnosis.
Genetics in medicine : official journal of the American College of Medical Genetics 2005;7(6):422-32.
2005: Weimin Bi; Tomoko Ohyama; Hisashi Nakamura; Jiong Yan; Jaya Visvanathan; Monica J Justice; James R Lupski
Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome.
Human molecular genetics 2005;14(8):983-95.
2005: Svetlana A Yatsenko; Sau Wai Cheung; Daryl A Scott; M J M Nowaczyk; M Tarnopolsky; Sakkubai Naidu; Genila Bibat; A Patel; J G Leroy; Fernando Scaglia; Pawel Stankiewicz; James R Lupski
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly.
Journal of medical genetics 2005;42(4):328-35.
2005: Gulam Mustafa Saifi; Kinga Szigeti; Wojciech Wiszniewski; chris hall; Karen M Krajewski; Irena Hausmanowa-Petrusewicz; Andrzej Kochanski; Suzanne Reeser; Pedro Mancias; Ian J Butler; James R Lupski
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.
Human mutation 2005;25(4):372-83.
2005: Gopalrao Velagaleti; Gabriel A Bien-Willner; Jill K Northup; Lillian H Lockhart; Judy C Hawkins; Syed M Jalal; Marjorie Withers; James R Lupski; Pawel Stankiewicz
Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.
American journal of human genetics 2005;76(4):652-62.
2005: Sherif F El-Khamisy; Gulam M Saifi; Michael Weinfeld; Fredrik Johansson; Thomas Helleday; James R Lupski; Keith W Caldecott
Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1.
Nature 2005;434(7029):108-13.
2005: Ana M Avalos Mishaan; Edward O Mason; Gerardo Martinez-Aguilar; Wendy A Hammerman; Jennifer J Propst; James R Lupski; Pawel Stankiewicz; Sheldon L Kaplan; Kristina G Hulten
Emergence of a predominant clone of community-acquired Staphylococcus aureus among children in Houston, Texas.
The Pediatric infectious disease journal 2005;24(3):201-6.
2005: Naohiro Kurotaki; Pawel Stankiewicz; Keiko Wakui; Norio Niikawa; James R Lupski
Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.
Human molecular genetics 2005;14(4):535-42.
2005: Joseph J Shen; Naohiro Kurotaki; A Patel; James R Lupski; Chester W Brown
Low factor XII level in an individual with Sotos syndrome.
Pediatric blood & cancer 2005;44(2):187-9.
2005: Alexander N Yatsenko; Wojciech Wiszniewski; Charles M Zaremba; Milan Jamrich; James R Lupski
Evolution of ABCA4 proteins in vertebrates.
Journal of molecular evolution 2005;60(1):72-80.
2005: Tong Zhou; Jae Wan Lee; Haritha Tatavarthi; James R Lupski; Kristoffer Valerie; Lawrence F Povirk
Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1).
Nucleic acids research 2005;33(1):289-97.
2005: Mimi Healy; Joe Huong; Traci Bittner; Maricel Lising; Stacie Frye; Sabeen Raza; Robert Schrock; Janet Manry; Alex Renwick; Robert Nieto; Charles Woods; James Versalovic; James R Lupski
Microbial DNA typing by automated repetitive-sequence-based PCR.
Journal of clinical microbiology 2005;43(1):199-207.
2005: Christine J Shaw; James R Lupski
Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms.
Human genetics 2005;116(1-2):1-7.
2004: Kinga Szigeti; Norbert Sule; Adekunle M Adesina; Dawna L Armstrong; Gulam Mustafa Saifi; E Bonilla; M Hirano; James R Lupski
Increased blood-brain barrier permeability with thymidine phosphorylase deficiency.
Annals of neurology 2004;56(6):881-6.
2004: Weimin Bi; Gulam Mustafa Saifi; Christine J Shaw; Katherina Walz; Patricia Fonseca; Meredith Wilson; Lorraine Potocki; James R Lupski
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.
Human genetics 2004;115(6):515-24.
2004: Pawel Stankiewicz; Christine J Shaw; Marjorie Withers; Ken Inoue; James R Lupski
Serial segmental duplications during primate evolution result in complex human genome architecture.
Genome research 2004;14(11):2209-20.
2004: Jiong Yan; Victoria W Keener; Weimin Bi; Katherina Walz; Allan Bradley; Monica J Justice; James R Lupski
Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.
Human molecular genetics 2004;13(21):2613-24.
2004: Heather M Kulaga; Carmen C Leitch; Erica R Eichers; Jose L Badano; Alysa Lesemann; Bethan E Hoskins; James R Lupski; Philip L Beales; Randall R Reed; Nicholas Katsanis
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.
Nature genetics 2004;36(9):994-8.
2004: Svetlana A Yatsenko; Alexander N Yatsenko; Kinga Szigeti; William J Craigen; Pawel Stankiewicz; Sau Wai Cheung; James R Lupski
Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome.
Clinical genetics 2004;66(2):128-36.
2004: Christine J Shaw; Marjorie Withers; James R Lupski
Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates.
American journal of human genetics 2004;75(1):75-81.
2004: Christine J Shaw; Pawel Stankiewicz; Gabriel A Bien-Willner; Scott C Bello; Chad A Shaw; Marta Carrera; Luis Perez Jurado; Xavier Estivill; James R Lupski
Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.
Human genetics 2004;115(1):1-7.
2004: Ken Inoue; Mehrdad Khajavi; Tomoko Ohyama; Shin-ichi Hirabayashi; John Wilson; James D Reggin; Pedro Mancias; Ian J Butler; Miles F Wilkinson; Michael Wegner; James R Lupski
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.
Nature genetics 2004;36(4):361-9.
2004: Christine J Shaw; James R Lupski
Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.
Human molecular genetics 2004;13 Spec No 1():R57-64.
2004: Katherina Walz; Corinne Spencer; Krista Kaasik; Cheng C Lee; James R Lupski; Richard Paylor
Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).
Human molecular genetics 2004;13(4):367-78.
2004: Kinga Szigeti; Lee-Jun C Wong; Cherng-Lih Perng; Gulam Mustafa Saifi; Karen W Eldin; Adekunle M Adesina; Darrell L Cass; M Hirano; James R Lupski; Fernando Scaglia
MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.
Journal of medical genetics 2004;41(2):125-9.
2004: Christine J Shaw; Chad A Shaw; Wei Yu; Pawel Stankiewicz; Lisa D White; Arthur L Beaudet; James R Lupski
Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.
Journal of medical genetics 2004;41(2):113-9.
2004: Barbara Panasiuk; Barbara Panasiuk; Zeynep Tümer; Pawel Stankiewicz; Asli N Silahtaroglu; James R Lupski; Zuzana Zemanova; Beata Stasiewicz-Jarocka; Ewa Hubert; Eugeniusz Tarasów; Waldemar Famulski; Barbara Zadrozna-Tołwińska; Ewa Wasilewska; Maria Kirchhoff; Vera Kalscheuer; Kyra Michalova; Niels Tommerup
Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome.
American journal of medical genetics. Part A 2004;124A(2):179-91.
2004: Christine J Shaw; Pawel Stankiewicz; John Christodoulou; Ellie Smith; Kristi Jones; James R Lupski
A girl with duplication 17p10-p12 associated with a dicentric chromosome.
American journal of medical genetics. Part A 2004;124A(2):173-8.
2004: James R Lupski
Hotspots of homologous recombination in the human genome: not all homologous sequences are equal.
Genome biology 2004;5(10):242.
2004: Erica R Eichers; Richard Alan Lewis; Nicholas Katsanis; James R Lupski
Triallelic inheritance: a bridge between Mendelian and multifactorial traits.
Annals of medicine 2004;36(4):262-72.
2004: Aikaterini Barbouti; Pawel Stankiewicz; Chad Nusbaum; Christina Cuomo; April Cook; Mattias Höglund; Bertil Johansson; Anne Hagemeijer; Sung Sup Park; Felix Mitelman; James R Lupski; Thoas Fioretos
The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats.
American journal of human genetics 2004;74(1):1-10.
2003: Fumiaki Toki; Norio Suzuki; Ken Inoue; Makoto Suzuki; Kyoko Hirakata; Kyoko Nagai; Minoru Kuroiwa; James R Lupski; Yoshiaki Tsuchida
Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature.
Pediatric surgery international 2003;19(11):725-8.
2003: Weimin Bi; Sung Sup Park; Christine J Shaw; Marjorie Withers; Pragna I Patel; James R Lupski
Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.
American journal of human genetics 2003;73(6):1302-15.
2003: Joseph J Shen; C A Brown; James R Lupski; Lorraine Potocki
Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.
Journal of medical genetics 2003;40(11):854-7.
2003: Lorraine Potocki; Christine J Shaw; Pawel Stankiewicz; James R Lupski
Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].
Genetics in medicine : official journal of the American College of Medical Genetics 2003;5(6):430-4.
2003: Jiong Yan; Katherina Walz; Hisashi Nakamura; Sandra Carattini-Rivera; Qi Zhao; Hannes Vogel; Ning Wei; Monica J Justice; Allan Bradley; James R Lupski
COP9 signalosome subunit 3 is essential for maintenance of cell proliferation in the mouse embryonic epiblast.
Molecular and cellular biology 2003;23(19):6798-808.
2003: Gulam Mustafa Saifi; Kinga Szigeti; G Jackson Snipes; Carlos A Garcia; James R Lupski
Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies.
Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2003;51(5):261-83.
2003: Kinga Szigeti; Gulam Mustafa Saifi; Dawna Armstrong; John W Belmont; Geoffrey Miller; James R Lupski
Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation.
Annals of neurology 2003;54(3):398-402.
2003: Miriam Hanson; James R Lupski; John Hicks; Denise W Metry
Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis.
Archives of dermatology 2003;139(7):916-20.
2003: Ken Inoue; James R Lupski
Genetics and genomics of behavioral and psychiatric disorders.
Current opinion in genetics & development 2003;13(3):303-9.
2003: Alexander N Yatsenko; Noah Shroyer; Richard A Lewis; James R Lupski
An ABCA4 genomic deletion in patients with Stargardt disease.
Human mutation 2003;21(6):636-44.
2003: Katherina Walz; Sandra Caratini-Rivera; Weimin Bi; Patricia Fonseca; Dena L Mansouri; Jennifer Lynch; Hannes Vogel; Jeffrey L Noebels; Allan Bradley; James R Lupski
Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.
Molecular and cellular biology 2003;23(10):3646-55.
2003: Philip L Beales; Jose L Badano; Alison J Ross; Stephen J Ansley; Bethan E Hoskins; Brigitta Kirsten; Charles A Mein; philippe froguel; Peter J Scambler; Richard Alan Lewis; James R Lupski; Nicholas Katsanis
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
American journal of human genetics 2003;72(5):1187-99.
2003: Pawel Stankiewicz; Christine J Shaw; Jason D Dapper; Keiko Wakui; Lisa Shaffer; Marjorie Withers; Leah Elizondo; Sung Sup Park; James R Lupski
Genome architecture catalyzes nonrecurrent chromosomal rearrangements.
American journal of human genetics 2003;72(5):1101-16.
2003: Alan E Schlesinger; Lorraine Potocki; Andrew K Poznanski; James R Lupski
The hand in Smith-Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis.
Pediatric radiology 2003;33(3):173-6.
2003: Cornelius F Boerkoel; Hiroshi Takashima; Masanori Nakagawa; Shuji Izumo; Dawna Armstrong; Ian J Butler; Pedro Mancias; Sozos Ch Papasozomenos; Lawrence Z Stern; James R Lupski
CMT4A: identification of a Hispanic GDAP1 founder mutation.
Annals of neurology 2003;53(3):400-5.
2003: Jose L Badano; Stephen J Ansley; Carmen C Leitch; Richard Alan Lewis; James R Lupski; Nicholas Katsanis
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
American journal of human genetics 2003;72(3):650-8.
2003: Albena Jordanova; Peter De Jonghe; Cornelius F Boerkoel; Hiroshi Takashima; Els De Vriendt; Chantal Ceuterick; Jean-Jacques Martin; Ian J Butler; Pedro Mancias; Sozos Ch Papasozomenos; D Terespolsky; Lorraine Potocki; C W Brown; chris hall; D A Rita; Ivailo Tournev; Ivo Kremensky; James R Lupski; Vincent Timmerman
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
Brain : a journal of neurology 2003;126(Pt 3):590-7.
2003: James R Lupski
2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture.
American journal of human genetics 2003;72(2):246-52.
2003: Pawel Stankiewicz; Ken Inoue; Weimin Bi; Katherina Walz; Sung Sup Park; Naohiro Kurotaki; Christine J Shaw; Patricia Fonseca; Jiong Yan; Jennifer A Lee; Mehrdad Khajavi; James R Lupski
Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.
Cold Spring Harbor symposia on quantitative biology 2003;68():445-54.
2003: Pawel Stankiewicz; Sau Wai Cheung; Christine J Shaw; R Saleki; Kinga Szigeti; James R Lupski
The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3.
Cytogenetic and genome research 2003;101(2):118-23.
2002: Ken Inoue; Konstantin Shilo; Cornelius F Boerkoel; Carol Crowe; Joram Sawady; James R Lupski; Dimitri P Agamanolis
Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.
Annals of neurology 2002;52(6):836-42.
2002: Christine J Shaw; Weimin Bi; James R Lupski
Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.
American journal of human genetics 2002;71(5):1072-81.
2002: Nicholas Katsanis; Kim C Worley; Guillermo Gonzalez; Stephen J Ansley; James R Lupski
A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(22):14326-31.
2002: Liran Shlush; Doron M Behar; Adrian Zelazny; Nathan Keller; James R Lupski; Arthur L Beaudet; Dani Bercovich
Molecular epidemiological analysis of the changing nature of a meningococcal outbreak following a vaccination campaign.
Journal of clinical microbiology 2002;40(10):3565-71.
2002: Ken Inoue; Hitoshi Osaka; Virginia C Thurston; Joe T R Clarke; Akira Yoneyama; Lisa Rosenbarker; Thomas D Bird; ME Hodes; Lisa Shaffer; James R Lupski
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.
American journal of human genetics 2002;71(4):838-53.
2002: Hiroshi Takashima; Cornelius F Boerkoel; Joy John; Gulam Mustafa Saifi; Mustafa A Salih; Dawna Armstrong; Yuxin Mao; Florante A Quiocho; Benjamin B Roa; Masanori Nakagawa; David Wayne Stockton; James R Lupski
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.
Nature genetics 2002;32(2):267-72.
2002: James R Lupski
Introduction of Arthur L. Beaudet, Harland Sanders Award recipient.
Genetics in medicine : official journal of the American College of Medical Genetics 2002;4(5):396-8.
2002: Bassem A Bejjani; Li Xu; Dawna Armstrong; James R Lupski; Lixing W Reneker
Expression patterns of cytochrome P4501B1 (Cyp1b1) in FVB/N mouse eyes.
Experimental eye research 2002;75(3):249-57.
2002: Nicholas Katsanis; Erica R Eichers; Stephen J Ansley; Richard Alan Lewis; Hulya Kayserili; Bethan E Hoskins; Peter J Scambler; Philip L Beales; James R Lupski
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
American journal of human genetics 2002;71(1):22-9.
2002: Hiroshi Takashima; Cornelius F Boerkoel; Peter De Jonghe; Chantal Ceuterick; Jean-Jacques Martin; Thomas Voit; J-Michael Schröder; Anna Williams; Peter J Brophy; Vincent Timmerman; James R Lupski
Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
Annals of neurology 2002;51(6):709-15.
2002: Pawel Stankiewicz; James R Lupski
Molecular-evolutionary mechanisms for genomic disorders.
Current opinion in genetics & development 2002;12(3):312-9.
2002: Ann C M Smith; Andrea Gropman; Joan E Bailey-Wilson; Ozlem Goker-Alpan; Sarah H Elsea; Jan Blancato; James R Lupski; Lorraine Potocki
Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).
Genetics in medicine : official journal of the American College of Medical Genetics 2002;4(3):118-25.
2002: Sung Sup Park; Pawel Stankiewicz; Weimin Bi; Christine Shaw; Jessica A Lehoczky; Ken Dewar; Bruce Birren; James R Lupski
Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.
Genome research 2002;12(5):729-38.
2002: Weimin Bi; Jiong Yan; Pawel Stankiewicz; Sung Sup Park; Katherina Walz; Cornelius F Boerkoel; Lorraine Potocki; Lisa Shaffer; koenraad devriendt; Magorzata J M Nowaczyk; Ken Inoue; James R Lupski
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
Genome research 2002;12(5):713-28.
2002: Hugh D Campbell; Shelley Fountain; Ian S McLennan; Leise A Berven; Michael F Crouch; Deborah A Davy; Jane A Hooper; Kynan Waterford; Ken-Shiung Chen; James R Lupski; Birgit Ledermann; Ian G Young; Klaus I Matthaei
Fliih, a gelsolin-related cytoskeletal regulator essential for early mammalian embryonic development.
Molecular and cellular biology 2002;22(10):3518-26.
2002: Erica R Eichers; Jane S Green; David Wayne Stockton; Christopher S Jackman; James Whelan; J Arch McNamara; Gordon J Johnson; James R Lupski; Nicholas Katsanis
Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.
American journal of human genetics 2002;70(4):955-64.
2002: Cornelius F Boerkoel; Hiroshi Takashima; Carlos A Garcia; Richard K Olney; John Johnson; Katherine Berry; Paul Russo; Shelley Kennedy; Ahmad S Teebi; Mena Scavina; Lowell L Williams; Pedro Mancias; Ian J Butler; Karen M Krajewski; chris hall; James R Lupski
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Annals of neurology 2002;51(2):190-201.
2002: Paul S Bernstein; Mark Leppert; Nanda Singh; Michael Dean; Richard Alan Lewis; James R Lupski; Rando Allikmets; Johanna M Seddon
Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings.
Investigative ophthalmology & visual science 2002;43(2):466-73.
2002: Pawel Stankiewicz; James R Lupski
Genome architecture, rearrangements and genomic disorders.
Trends in genetics : TIG 2002;18(2):74-82.
2002: Thomas B Friedman; John T Hinnant; Manju Ghosh; Erich T Boger; Sheikh Amer Riazuddin; James R Lupski; Lorraine Potocki; Edward R Wilcox
DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation.
Advances in oto-rhino-laryngology 2002;61():124-30.
2002: James Versalovic; James R Lupski
Molecular detection and genotyping of pathogens: more accurate and rapid answers.
Trends in microbiology 2002;10(10 Suppl):S15-21.
2002: Ken Inoue; James R Lupski
Molecular mechanisms for genomic disorders.
Annual review of genomics and human genetics 2002;3():199-242.
2002: Cornelius F Boerkoel; Hiroshi Takashima; James R Lupski
The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy.
Current neurology and neuroscience reports 2002;2(1):70-7.
2001: Ken Inoue; M Kanai; Y Tanabe; T Kubota; Catherine D Kashork; Keiko Wakui; Y Fukushima; James R Lupski; Lisa Shaffer
Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease.
Prenatal diagnosis 2001;21(13):1133-6.
2001: Ken Inoue; H Tanaka; Fernando Scaglia; A Araki; Lisa Shaffer; James R Lupski
Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement.
Annals of neurology 2001;50(6):747-54.
2001: Pawel Stankiewicz; S S Parka; S E Holder; C S Waters; R W Palmer; Sue Ann Berend; Lisa Shaffer; Lorraine Potocki; James R Lupski
Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype.
Clinical genetics 2001;60(5):336-44.
2001: NA Liburd; Manju Ghosh; S Riazuddin; Sadaf Naz; S Khan; Zubair M Ahmed; Sheikh Amer Riazuddin; Y Liang; P S N Menon; T Smith; A C Smith; Ken-Shiung Chen; James R Lupski; Edward R Wilcox; L Potocki; Thomas B Friedman
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
Human genetics 2001;109(5):535-41.
2001: Noah Shroyer; R A Lewis; Alexander N Yatsenko; Theodore G Wensel; James R Lupski
Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.
Human molecular genetics 2001;10(23):2671-8.
2001: Noah Shroyer; R A Lewis; Alexander N Yatsenko; James R Lupski
Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.
Investigative ophthalmology & visual science 2001;42(12):2757-61.
2001: Nicholas Katsanis; James R Lupski; Philip L Beales
Exploring the molecular basis of Bardet-Biedl syndrome.
Human molecular genetics 2001;10(20):2293-9.
2001: David Wayne Stockton; Ricardo Meade; David T Netscher; M J Epstein; Saleh M Shenaq; Lisa Shaffer; James R Lupski
Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome.
Archives of neurology 2001;58(10):1635-7.
2001: Nicholas Katsanis; Stephen J Ansley; Jose L Badano; Erica R Eichers; R A Lewis; Bethan E Hoskins; Peter J Scambler; William S Davidson; Philip L Beales; James R Lupski
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
Science (New York, N.Y.) 2001;293(5538):2256-9.
2001: Hiroshi Takashima; Cornelius F Boerkoel; James R Lupski
Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(5):335-42.
2001: Nicholas Katsanis; Kim C Worley; James R Lupski
An evaluation of the draft human genome sequence.
Nature genetics 2001;29(1):88-91.
2001: Cornelius F Boerkoel; Hiroshi Takashima; Carlos A Bacino; D Daentl; James R Lupski
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.
Neurogenetics 2001;3(3):153-7.
2001: Pawel Stankiewicz; Sung Sup Park; Ken Inoue; James R Lupski
The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP.
Genome research 2001;11(7):1205-10.
2001: Nicholas Katsanis; Noah Shroyer; R A Lewis; J C Cavender; Ali A Al-Rajhi; MH Jabak; James R Lupski
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.
Clinical genetics 2001;59(6):424-9.
2001: Noah Shroyer; R A Lewis; James R Lupski
Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease?
American journal of ophthalmology 2001;131(6):761-6.
2001: Ken Inoue; Ken Dewar; Nicholas Katsanis; Lawrence Reiter; Eric S Lander; KL Devon; D W Wyman; James R Lupski; Bruce Birren
The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.
Genome research 2001;11(6):1018-33.
2001: Jose L Badano; Ken Inoue; Nicholas Katsanis; James R Lupski
New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis.
Clinical chemistry 2001;47(5):838-43.
2001: Alexander N Yatsenko; Noah Shroyer; R A Lewis; James R Lupski
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).
Human genetics 2001;108(4):346-55.
2001: Thomas Liehr; Lawrence Reiter; James R Lupski; T Murakami; U Claussen; Bernd Rautenstrauss
Regional localization of 10 mariner transposon-like ESTs by means of FISH--evidence for a correlation with fragile sites.
Mammalian genome : official journal of the International Mammalian Genome Society 2001;12(4):326-8.
2001: Philip L Beales; Nicholas Katsanis; R A Lewis; Stephen J Ansley; Nursel Elcioglu; J Raza; Michael O Woods; Jane S Green; Patrick S Parfrey; William S Davidson; James R Lupski
Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.
American journal of human genetics 2001;68(3):606-16.
2001: L Edelmann; Pawel Stankiewicz; Elizabeth Spiteri; RK Pandita; Lisa Shaffer; James R Lupski; Bernice E Morrow; J Lupski
Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.
Genome research 2001;11(2):208-17.
2001: Cornelius F Boerkoel; Hiroshi Takashima; Pawel Stankiewicz; Carlos A Garcia; Steven M Leber; L Rhee-Morris; James R Lupski
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
American journal of human genetics 2001;68(2):325-33.
2000: Nicholas Katsanis; Philip L Beales; Michael O Woods; R A Lewis; Jane S Green; Patrick S Parfrey; Stephen J Ansley; William S Davidson; James R Lupski
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
Nature genetics 2000;26(1):67-70.
2000: Robert A Britton; S M Chen; D Wallis; T Koeuth; Bradford S Powell; Lisa Shaffer; David Largaespada; Nancy A Jenkins; Neal G Copeland; Donald L Court; James R Lupski
Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era.
Genomics 2000;67(1):78-82.
2000: Lorraine Potocki; Daniel G Glaze; D X Tan; Sung Sup Park; Catherine D Kashork; Lisa Shaffer; Russel J Reiter; James R Lupski
Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.
Journal of medical genetics 2000;37(6):428-33.
2000: Bassem A Bejjani; David Wayne Stockton; R A Lewis; K F Tomey; D K Dueker; MH Jabak; W F Astle; James R Lupski
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
Human molecular genetics 2000;9(3):367-74.
2000: Noah Shroyer; R A Lewis; James R Lupski
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.
Human genetics 2000;106(2):244-8.
2000: A Gutierrez; John D England; Austin J Sumner; S Ferer; L E Warner; James R Lupski; Carlos A Garcia
Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease.
Muscle & nerve 2000;23(2):182-8.
2000: Nicholas Katsanis; Susan Venable; James R Smith; James R Lupski
Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.
Human genetics 2000;106(1):66-72.
2000: James R Lupski
Recessive Charcot-Marie-tooth disease.
Annals of neurology 2000;47(1):6-8.
2000: Lorraine Potocki; Ken-Shiung Chen; Sung Sup Park; D E Osterholm; Marjorie Withers; Virginia E Kimonis; A M Summers; W S Meschino; K Anyane-Yeboa; Catherine D Kashork; Lisa Shaffer; James R Lupski
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
Nature genetics 2000;24(1):84-7.
1999: Nicholas Katsanis; R A Lewis; David Wayne Stockton; P M Mai; Lisa Baird; Philip L Beales; Mark Leppert; James R Lupski
Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.
American journal of human genetics 1999;65(6):1672-9.
1999: Catherine D Kashork; Ken-Shiung Chen; James R Lupski; Lisa Shaffer
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A.
Annals of the New York Academy of Sciences 1999;883():457-9.
1999: Cornelius F Boerkoel; Ken Inoue; Lawrence Reiter; LE Warner; James R Lupski
Molecular mechanisms for CMT1A duplication and HNPP deletion.
Annals of the New York Academy of Sciences 1999;883():22-35.
1999: Lawrence Reiter; Thomas Liehr; Bernd Rautenstrauss; H M Robertson; James R Lupski
Localization of mariner DNA transposons in the human genome by PRINS.
Genome research 1999;9(9):839-43.
1999: Ken Inoue; Y Tanabe; James R Lupski
Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation.
Annals of neurology 1999;46(3):313-8.
1999: Noah Shroyer; R A Lewis; Rando Allikmets; N Singh; M Dean; Mark Leppert; James R Lupski
The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial.
Vision research 1999;39(15):2537-44.
1999: LE Warner; J Svaren; Jeffrey Milbrandt; James R Lupski
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.
Human molecular genetics 1999;8(7):1245-51.
1999: Vincent Timmerman; Peter De Jonghe; Chantal Ceuterick; Els De Vriendt; Ann Löfgren; Eva Nelis; L E Warner; James R Lupski; Jean-Jacques Martin; Christine Van Broeckhoven
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.
Neurology 1999;52(9):1827-32.
1999: Catherine D Kashork; James R Lupski; Lisa Shaffer
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization.
Prenatal diagnosis 1999;19(5):446-9.
1999: Ken Inoue; Hitoshi Osaka; K Imaizumi; A Nezu; J Takanashi; J Arii; K Murayama; J Ono; Y Kikawa; T Mito; Lisa Shaffer; James R Lupski
Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations.
Annals of neurology 1999;45(5):624-32.
1999: Lorraine Potocki; Ken-Shiung Chen; James R Lupski
Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the smith-magenis syndrome critical region in 17p11.2.
Genomics 1999;57(1):180-2.
1999: Frank J Probst; Ken-Shiung Chen; Q Zhao; A Wang; Thomas B Friedman; James R Lupski; Sally A Camper
A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).
Genomics 1999;55(3):348-52.
1999: James R Lupski
Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.
Pediatric research 1999;45(2):159-65.
1999: Lorraine Potocki; Ken-Shiung Chen; T Koeuth; James Killian; S T Iannaccone; Stuart K Shapira; Catherine D Kashork; AS Spikes; Lisa Shaffer; James R Lupski
DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.
American journal of human genetics 1999;64(2):471-8.
1999: R A Lewis; Noah Shroyer; N Singh; Rando Allikmets; A Hutchinson; Y Li; James R Lupski; Mark Leppert; M Dean
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
American journal of human genetics 1999;64(2):422-34.
1999: LE Warner; Carlos A Garcia; James R Lupski
Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms.
Annual review of medicine 1999;50():263-75.
1998: Bassem A Bejjani; Kerby Oberg; Isabelle A. Wilkins; AA Moise; Claire Langston; andrea superti-furga; James R Lupski
Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1.
American journal of medical genetics 1998;79(5):392-5.
1998: James R Lupski
Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits.
Trends in genetics : TIG 1998;14(10):417-22.
1998: David Wayne Stockton; R A Lewis; E B Abboud; Ali A Al-Rajhi; MH Jabak; K L Anderson; James R Lupski
A novel locus for Leber congenital amaurosis on chromosome 14q24.
Human genetics 1998;103(3):328-33.
1998: Yuan-Qing Wu; V Reid Sutton; E Nickerson; James R Lupski; Lorraine Potocki; julie R korenberg; F Greenberg; M Tassabehji; Lisa Shaffer
Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.
American journal of medical genetics 1998;78(1):82-9.
1998: Q Zhao; Ken-Shiung Chen; B A Bejjani; James R Lupski
Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179.
Genomics 1998;49(3):394-400.
1998: Lawrence Reiter; Philip J Hastings; Eva Nelis; Peter De Jonghe; Christine Van Broeckhoven; James R Lupski
Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.
American journal of human genetics 1998;62(5):1023-33.
1998: LE Warner; Pedro Mancias; Ian J Butler; Craig M McDonald; L Keppen; K G Koob; James R Lupski
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
Nature genetics 1998;18(4):382-4.
1998: Y Liang; A Wang; Frank J Probst; I N Arhya; T D Barber; Ken-Shiung Chen; Dilip Deshmukh; David F Dolan; John T Hinnant; L E Carter; P K Jain; Anil K Lalwani; XC Li; James R Lupski; S Moeljopawiro; Robert J Morell; C Negrini; Edward R Wilcox; S Winata; Sally A Camper; Thomas B Friedman
Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.
American journal of human genetics 1998;62(4):904-15.
1998: Robert A Britton; Bradford S Powell; Somsankar Dasgupta; Q Sun; W Margolin; James R Lupski; Donald L Court
Cell cycle arrest in Era GTPase mutants: a potential growth rate-regulated checkpoint in Escherichia coli.
Molecular microbiology 1998;27(4):739-50.
1998: Bassem A Bejjani; R A Lewis; K F Tomey; K L Anderson; D K Dueker; MH Jabak; W F Astle; Britt Otterud; Mark Leppert; James R Lupski
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
American journal of human genetics 1998;62(2):325-33.
1998: James R Lupski
Charcot-Marie-Tooth disease: lessons in genetic mechanisms.
Molecular medicine (Cambridge, Mass.) 1998;4(1):3-11.
1997: Ken-Shiung Chen; Prasad Manian; T Koeuth; Lorraine Potocki; Q Zhao; A Craig Chinault; Cheng Chi Lee; James R Lupski
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.
Nature genetics 1997;17(2):154-63.
1997: Rando Allikmets; Noah Shroyer; N Singh; J M Seddon; R A Lewis; Paul S Bernstein; Andy P Peiffer; Norman A Zabriskie; Y Li; Amy Hutchinson; M Dean; James R Lupski; Mark Leppert
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
Science (New York, N.Y.) 1997;277(5333):1805-7.
1997: Lawrence Reiter; T Murakami; T Koeuth; Richard A Gibbs; James R Lupski
The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.
Human molecular genetics 1997;6(9):1595-603.
1997: David Wayne Stockton; HL Ross; Carlos A Bacino; Carolyn A Altman; Lisa Shaffer; James R Lupski
Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.
American journal of medical genetics 1997;71(2):189-93.
1997: Robert A Britton; Bradford S Powell; Donald L Court; James R Lupski
Characterization of mutations affecting the Escherichia coli essential GTPase era that suppress two temperature-sensitive dnaG alleles.
Journal of bacteriology 1997;179(14):4575-82.
1997: T Murakami; Lawrence Reiter; James R Lupski
Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.
Genomics 1997;42(1):161-4.
1997: Hugh D Campbell; Shelley Fountain; Ian G Young; Charles Claudianos; J D Hoheisel; Ken-Shiung Chen; James R Lupski
Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL.
Genomics 1997;42(1):46-54.
1997: Robert A Britton; James R Lupski
Isolation and characterization of suppressors of two Escherichia coli dnaG mutations, dnaG2903 and parB.
Genetics 1997;145(4):867-75.
1997: Lisa Shaffer; G M Kennedy; AS Spikes; James R Lupski
Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory.
American journal of medical genetics 1997;69(3):325-31.
1997: Rando Allikmets; N Singh; H Sun; Noah Shroyer; A Hutchinson; A Chidambaram; B Gerrard; Lisa Baird; D Stauffer; Andy P Peiffer; Amir Rattner; Philip M Smallwood; Y Li; K L Anderson; R A Lewis; Jeremy Nathans; Mark Leppert; M Dean; James R Lupski
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
Nature genetics 1997;15(3):236-46.
1997: James Versalovic; James R Lupski
Missense mutations in the 3' end of the Escherichia coli dnaG gene do not abolish primase activity but do confer the chromosome-segregation-defective (par) phenotype.
Microbiology (Reading, England) 1997;143 ( Pt 2)():585-94.
1997: Bernd Rautenstrauss; Christina Fuchs; Thomas Liehr; H Grehl; T Murakami; James R Lupski
Visualization of the CMT1A duplication and HNPP deletion by FISH on stretched chromosome fibers.
Journal of the peripheral nervous system : JPNS 1997;2(4):319-22.
1997: LE Warner; M Shohat; Z Shorer; James R Lupski
Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.
Human mutation 1997;10(1):21-4.
1997: Vincent Timmerman; Bernd Rautenstrauss; Lawrence Reiter; T Koeuth; Ann Löfgren; Thomas Liehr; Eva Nelis; KD Bathke; Peter De Jonghe; H Grehl; Jean-Jacques Martin; James R Lupski; Christine Van Broeckhoven
Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.
Journal of medical genetics 1997;34(1):43-9.
1997: T Murakami; ZS Sun; Cheng Chi Lee; James R Lupski
Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
Genomics 1997;39(1):99-103.
1996: K L Anderson; R A Lewis; Bassem A Bejjani; L Baird; Britt Otterud; K F Tomey; W F Astle; D K Dueker; M Leppert; James R Lupski
A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenile-onset open angle glaucoma.
Journal of glaucoma 1996;5(6):416-21.
1996: Barbara J Trask; Heather C Mefford; Ger van den Engh; Hillary F Massa; R C Juyal; Lorraine Potocki; B Finucane; D N Abuelo; D R Witt; E Magenis; Antonio Baldini; F Greenberg; James R Lupski; Pragna I Patel
Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients.
Human genetics 1996;98(6):710-8.
1996: Charles R Woods; T Koeuth; M M Estabrook; James R Lupski
Rapid determination of outbreak-related strains of Neisseria meningitidis by repetitive element-based polymerase chain reaction genotyping.
The Journal of infectious diseases 1996;174(4):760-7.
1996: T Murakami; C A Garcia; Lawrence Reiter; James R Lupski
Charcot-Marie-Tooth disease and related inherited neuropathies.
Medicine 1996;75(5):233-50.
1996: LE Warner; M J Hilz; S H Appel; J M Killian; E H Kolodry; G Karpati; S Carpenter; G V Watters; C Wheeler; D Witt; A Bodell; Eva Nelis; Christine Van Broeckhoven; James R Lupski
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
Neuron 1996;17(3):451-60.
1996: R M Chen; James R Lupski; F Greenberg; R A Lewis
Ophthalmic manifestations of Smith-Magenis syndrome.
Ophthalmology 1996;103(7):1084-91.
1996: T Murakami; James R Lupski
A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
Genomics 1996;34(1):128-33.
1996: Benjamin B Roa; F Greenberg; P Gunaratne; C M Sauer; MS Lubinsky; Chahira Kozma; Jeanne M Meck; R Ellen Magenis; Lisa Shaffer; James R Lupski
Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.
Human genetics 1996;97(5):642-9.
1996: R C Juyal; Luis Figuera; X Hauge; Sarah H Elsea; James R Lupski; F Greenberg; Antonio Baldini; Pragna I Patel
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.
American journal of human genetics 1996;58(5):998-1007.
1996: F Greenberg; R A Lewis; Lorraine Potocki; Daniel G Glaze; J Parke; J Killian; M A Murphy; D Williamson; F Brown; R Dutton; C McCluggage; E Friedman; Marcelle Sulek; James R Lupski
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
American journal of medical genetics 1996;62(3):247-54.
1996: Lawrence Reiter; T Murakami; T Koeuth; L Pentao; Donna M Muzny; Richard A Gibbs; James R Lupski
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.
Nature genetics 1996;12(3):288-97.
1996: LE Warner; Lawrence Reiter; T Murakami; James R Lupski
Molecular mechanisms for Charcot-Marie-Tooth disease and related demyelinating peripheral neuropathies.
Cold Spring Harbor symposia on quantitative biology 1996;61():659-71.
1996: Eva Nelis; L E Warner; E D Vriendt; Phillip F Chance; James R Lupski; Christine Van Broeckhoven
Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies.
European journal of human genetics : EJHG 1996;4(6):329-33.
1996: LE Warner; Benjamin B Roa; James R Lupski
Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A.
Human mutation 1996;8(4):362-5.
1996: Benjamin B Roa; LE Warner; C A Garcia; D Russo; R Lovelace; Phillip F Chance; James R Lupski
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.
Human mutation 1996;7(1):36-45.
1996: Lisa Shaffer; Christopher McCaskill; J H Hersh; F Greenberg; James R Lupski
A clinical and molecular study of mosaicism for trisomy 17.
Human genetics 1996;97(1):69-72.
1996: James R Lupski; J R Roth; G M Weinstock
Chromosomal duplications in bacteria, fruit flies, and humans.
American journal of human genetics 1996;58(1):21-7.
1996: J M Killian; P S Tiwari; S Jacobson; R D Jackson; James R Lupski
Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy.
Muscle & nerve 1996;19(1):74-8.
1995: K L Anderson; L Baird; R A Lewis; A Craig Chinault; Britt Otterud; M Leppert; James R Lupski
A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p.
American journal of human genetics 1995;57(6):1351-63.
1995: R C Juyal; B Finucane; L G Shaffer; James R Lupski; F Greenberg; C I Scott; Antonio Baldini; Pragna I Patel
Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient.
American journal of medical genetics 1995;59(3):406-7.
1995: T Koeuth; James Versalovic; James R Lupski
Differential subsequence conservation of interspersed repetitive Streptococcus pneumoniae BOX elements in diverse bacteria.
Genome research 1995;5(4):408-18.
1995: B S Harvey; T Koeuth; James Versalovic; Charles R Woods; James R Lupski
Vertical transmission of Citrobacter diversus documented by DNA fingerprinting.
Infection control and hospital epidemiology : the official journal of the Society of Hospital Epidemiologists of America 1995;16(10):564-9.
1995: LE Warner; Benjamin B Roa; James R Lupski
Settling the myelin protein zero question in CMT1B.
Nature genetics 1995;11(2):119-20.
1995: R C Juyal; F Greenberg; G A Mengden; James R Lupski; Barbara J Trask; Ger van den Engh; Elizabeth Lindsay; H Christy; Ken-Shiung Chen; Antonio Baldini
Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization.
American journal of medical genetics 1995;58(3):286-91.
1995: Mae F Go; K Y Chan; James Versalovic; T Koeuth; David Y Graham; James R Lupski
Cluster analysis of Helicobacter pylori genomic DNA fingerprints suggests gastroduodenal disease-specific associations.
Scandinavian journal of gastroenterology 1995;30(7):640-6.
1995: Robert A Britton; James R Lupski
Functional analysis of mutations in the transcription terminator T1 that suppress two dnaG alleles in Escherichia coli.
Molecular & general genetics : MGG 1995;246(6):729-33.
1995: M L Levin; Lisa Shaffer; Mary V Gresik; James R Lupski
Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies.
American journal of medical genetics 1995;55(1):30-2.
1995: Ken-Shiung Chen; P H Gunaratne; J D Hoheisel; Ian G Young; George L Gabor Miklos; F Greenberg; Lisa Shaffer; Hugh D Campbell; James R Lupski
The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2.
American journal of human genetics 1995;56(1):175-82.
1995: James Versalovic; Vivek Kapur; T Koeuth; G H Mazurek; T S Whittam; James M Musser; James R Lupski
DNA fingerprinting of pathogenic bacteria by fluorophore-enhanced repetitive sequence-based polymerase chain reaction.
Archives of pathology & laboratory medicine 1995;119(1):23-9.
1995: P R Georghiou; Richard J Hamill; C E Wright; James Versalovic; T Koeuth; David Watson; James R Lupski
Molecular epidemiology of infections due to Enterobacter aerogenes: identification of hospital outbreak-associated strains by molecular techniques.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 1995;20(1):84-94.
1994: R Metzger; D P Brown; P Grealish; Michael J Staver; James Versalovic; James R Lupski; L Katz
Characterization of the macromolecular synthesis (MMS) operon from Listeria monocytogenes.
Gene 1994;151(1-2):161-6.
1994: P R Georghiou; A M Doggett; M A Kielhofner; J E Stout; David Watson; James R Lupski; Richard J Hamill
Molecular fingerprinting of Legionella species by repetitive element PCR.
Journal of clinical microbiology 1994;32(12):2989-94.
1994: Ueli Suter; G Jackson Snipes; R Schoener-Scott; Andrew A Welcher; S Pareek; James R Lupski; Richard A Murphy; Eric M Shooter; Pragna I Patel
Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters.
The Journal of biological chemistry 1994;269(41):25795-808.
1994: Stuart K Shapira; K L Anderson; A Orr-Urtregar; William J Craigen; James R Lupski; Lisa Shaffer
De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.
American journal of medical genetics 1994;52(1):44-50.
1994: T C Matise; Aravinda Chakravarti; Pragna I Patel; James R Lupski; Eva Nelis; Vincent Timmerman; Christine Van Broeckhoven; Daniel E Weeks
Detection of tandem duplications and implications for linkage analysis.
American journal of human genetics 1994;54(6):1110-21.
1994: M Leppert; L Baird; K L Anderson; Britt Otterud; James R Lupski; R A Lewis
Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.
Nature genetics 1994;7(1):108-12.
1994: Pragna I Patel; James R Lupski
Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.
Trends in genetics : TIG 1994;10(4):128-33.
1994: Phillip F Chance; N Abbas; M W Lensch; L Pentao; Benjamin B Roa; Pragna I Patel; James R Lupski
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.
Human molecular genetics 1994;3(2):223-8.
1994: Benjamin B Roa; James R Lupski
Molecular genetics of Charcot-Marie-Tooth neuropathy.
Advances in human genetics 1994;22():117-52.
1993: James Versalovic; James R Lupski
The Haemophilus influenzae dnaG sequence and conserved bacterial primase motifs.
Gene 1993;136(1-2):281-6.
1993: James R Lupski; Phillip F Chance; C A Garcia
Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP.
JAMA : the journal of the American Medical Association 1993;270(19):2326-30.
1993: Benjamin B Roa; P J Dyck; H G Marks; Phillip F Chance; James R Lupski
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
Nature genetics 1993;5(3):269-73.
1993: James Versalovic; Charles R Woods; P R Georghiou; R J Hamill; James R Lupski
DNA-based identification and epidemiologic typing of bacterial pathogens.
Archives of pathology & laboratory medicine 1993;117(11):1088-98.
1993: Benjamin B Roa; C A Garcia; L Pentao; J M Killian; Barbara J Trask; Ueli Suter; G Jackson Snipes; R Ortiz-Lopez; Eric M Shooter; Pragna I Patel; James R Lupski
Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.
Nature genetics 1993;5(2):189-94.
1993: C A Wise; C A Garcia; S N Davis; Z Heju; L Pentao; Pragna I Patel; James R Lupski
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.
American journal of human genetics 1993;53(4):853-63.
1993: Benjamin B Roa; James R Lupski
Molecular basis of Charcot-Marie-Tooth disease type 1A: gene dosage as a novel mechanism for a common autosomal dominant condition.
The American journal of the medical sciences 1993;306(3):177-84.
1993: Benjamin B Roa; C A Garcia; Ueli Suter; Deanna Kulpa; C A Wise; J Mueller; Andrew A Welcher; G Jackson Snipes; Eric M Shooter; Pragna I Patel; James R Lupski
Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
The New England journal of medicine 1993;329(2):96-101.
1993: Charles R Woods; James Versalovic; T Koeuth; James R Lupski
Whole-cell repetitive element sequence-based polymerase chain reaction allows rapid assessment of clonal relationships of bacterial isolates.
Journal of clinical microbiology 1993;31(7):1927-31.
1993: James Versalovic; Vivek Kapur; Edward O Mason; U Shah; T Koeuth; James R Lupski; James M Musser
Penicillin-resistant Streptococcus pneumoniae strains recovered in Houston: identification and molecular characterization of multiple clones.
The Journal of infectious diseases 1993;167(4):850-6.
1993: James Versalovic; T Koeuth; Robert A Britton; K Geszvain; James R Lupski
Conservation and evolution of the rpsU-dnaG-rpoD macromolecular synthesis operon in bacteria.
Molecular microbiology 1993;8(2):343-55.
1993: James R Lupski; L Pentao; L L Williams; Pragna I Patel
Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1.
American journal of medical genetics 1993;45(1):92-6.
1993: Benjamin B Roa; C A Garcia; C A Wise; K Anderson; F Greenberg; Pragna I Patel; James R Lupski
Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.
Progress in clinical and biological research 1993;384():187-205.
1992: James R Lupski
An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.
Clinical research 1992;40(4):645-52.
1992: L Pentao; C A Wise; A C Chinault; Pragna I Patel; James R Lupski
Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.
Nature genetics 1992;2(4):292-300.
1992: Charles R Woods; James Versalovic; T Koeuth; James R Lupski
Analysis of relationships among isolates of Citrobacter diversus by using DNA fingerprints generated by repetitive sequence-based primers in the polymerase chain reaction.
Journal of clinical microbiology 1992;30(11):2921-9.
1992: James R Lupski; C A Garcia
Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.
Brain pathology (Zurich, Switzerland) 1992;2(4):337-49.
1992: V Guzzetta; Brunella Franco; Barbara J Trask; H Zhang; O Saucedo-Cardenas; R Montes de Oca-Luna; F Greenberg; A Craig Chinault; James R Lupski; Pragna I Patel
Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p.
Genomics 1992;13(3):551-9.
1992: James R Lupski; George Weinstock
Short, interspersed repetitive DNA sequences in prokaryotic genomes.
Journal of bacteriology 1992;174(14):4525-9.
1992: Pragna I Patel; Benjamin B Roa; Andrew A Welcher; R Schoener-Scott; Barbara J Trask; L Pentao; G Jackson Snipes; C A Garcia; U Francke; Eric M Shooter; James R Lupski; Ueli Suter
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
Nature genetics 1992;1(3):159-65.
1992: L Pentao; R A Lewis; David Ledbetter; Pragna I Patel; James R Lupski
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.
American journal of human genetics 1992;50(4):690-9.
1992: James R Lupski; C A Wise; A Kuwano; L Pentao; J T Parke; Daniel G Glaze; David Ledbetter; F Greenberg; Pragna I Patel
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.
Nature genetics 1992;1(1):29-33.
1992: Prem S Subramanian; James Versalovic; Edward RB McCabe; James R Lupski
Rapid mapping of Escherichia coli::Tn5 insertion mutations by REP-Tn5 PCR.
PCR methods and applications 1992;1(3):187-92.
1991: James Versalovic; T Koeuth; James R Lupski
Distribution of repetitive DNA sequences in eubacteria and application to fingerprinting of bacterial genomes.
Nucleic acids research 1991;19(24):6823-31.
1991: F Greenberg; V Guzzetta; R Montes de Oca-Luna; R Ellen Magenis; A C Smith; S F Richter; I Kondo; William B Dobyns; Pragna I Patel; James R Lupski
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
American journal of human genetics 1991;49(6):1207-18.
1991: Eric Hoffman; C A Garcia; J S Chamberlain; Corrado Angelini; James R Lupski; R Fenwick
Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy.
Annals of neurology 1991;30(4):605-10.
1991: James Versalovic; T Koeuth; E R McCabe; James R Lupski
Use of the polymerase chain reaction for physical mapping of Escherichia coli genes.
Journal of bacteriology 1991;173(17):5253-5.
1991: James R Lupski; C A Garcia; Huda Y Zoghbi; Eric Hoffman; R G Fenwick
Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy.
American journal of medical genetics 1991;40(3):354-64.
1991: James R Lupski; C Langston; R Friedman; David Ledbetter; F Greenberg
Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2).
American journal of medical genetics 1991;40(2):196-8.
1991: James R Lupski; R M de Oca-Luna; S Slaugenhaupt; L Pentao; V Guzzetta; Barbara J Trask; O Saucedo-Cardenas; David Barker; J M Killian; C A Garcia; Aravinda Chakravarti; Pragna I Patel
DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
Cell 1991;66(2):219-32.
1991: Brunella Franco; L W Lai; D Patterson; David Ledbetter; Barbara J Trask; Ger van den Engh; S Iannaccone; S Frances; Pragna I Patel; James R Lupski
Molecular characterization of a patient with del(1)(q23-q25).
Human genetics 1991;87(3):269-77.
1991: Markus Grompe; James Versalovic; T Koeuth; James R Lupski
Mutations in the Escherichia coli dnaG gene suggest coupling between DNA replication and chromosome partitioning.
Journal of bacteriology 1991;173(3):1268-78.
1991: Benjamin B Roa; C A Garcia; James R Lupski
Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy.
International journal of neurology 1991;25-26():97-107.
1991: V Guzzetta; R Montes de Oca-Luna; James R Lupski; Pragna I Patel
Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction.
Genomics 1991;9(1):31-6.
1990: Brunella Franco; D Rincon-Limas; Y Nakamura; Pragna I Patel; James R Lupski
Two MspI RFLPs at the D17S258 locus.
Nucleic acids research 1990;18(23):7196.
1990: Pragna I Patel; C Garcia; R Montes de Oca-Luna; R I Malamut; Brunella Franco; S Slaugenhaupt; Aravinda Chakravarti; James R Lupski
Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.
American journal of human genetics 1990;47(6):926-34.
1990: James R Lupski; Y H Zhang; M Rieger; M Minter; B Hsu; B G Ooi; T Koeuth; E R McCabe
Mutational analysis of the Escherichia coli glpFK region with Tn5 mutagenesis and the polymerase chain reaction.
Journal of bacteriology 1990;172(10):6129-34.
1990: R Ray; D Rincon-Limas; R A Wright; S N Davis; James R Lupski; Pragna I Patel
Three polymorphisms at the D17S29 locus.
Nucleic acids research 1990;18(16):4958.
1990: Pragna I Patel; Brunella Franco; C Garcia; S A Slaugenhaupt; Y Nakamura; David Ledbetter; Aravinda Chakravarti; James R Lupski
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.
American journal of human genetics 1990;46(4):801-9.
1990: Pragna I Patel; David Ledbetter; S Frances; Brunella Franco; M R Wallace; Francis S Collins; James R Lupski
Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251].
Nucleic acids research 1990;18(4):1087.
1988: James R Lupski; R D Feigin
Molecular evolution of pathogenic Escherichia coli.
The Journal of infectious diseases 1988;157(6):1120-3.