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James Lupski

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Anatomy

Chromosomes, Human, Pair 17

Disorders

Concepts & Ideas

Procedures

Physiology

Chemicals & Drugs

Living Beings

Mice

Genes & Molecular Sequences

Amino Acid Sequence

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Publications

TOP 3
El-Hattab Ayman W; Smolarek Teresa A; Walker Martha E; Schorry Elizabeth K; Immken LaDonna L; Patel Gayle; Abbott Mary-Alice; Lanpher Brendan C; Ou Zhishuo; Kang Sung-Hae L; Patel Ankita; Scaglia Fernando; Lupski James R; Cheung Sau Wai; Stankiewicz Pawel
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Leal Alejandro; Huehne Kathrin; Bauer Finn; Sticht Heinrich; Berger Philipp; Suter Ueli; Morera Bernal; Del Valle Gerardo; Lupski James R; Ekici Arif; Pasutto Francesca; Endele Sabine; Barrantes Ramiro; Berghoff Corinna; Berghoff Martin; Neundörfer Bernhard; Heuss Dieter; Dorn Thomas; Young Peter; Santolin Lisa; Uhlmann Thomas; Meisterernst Michael; Sereda Michael; Zu Horste Gerd Meyer; Nave Klaus-Armin; Reis André; Rautenstrauss Bernd
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.
Hastings P J; Lupski James R; Rosenberg Susan M; Ira Grzegorz
Mechanisms of change in gene copy number.

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All Publications

2009: El-Hattab Ayman W; Smolarek Teresa A; Walker Martha E; Schorry Elizabeth K; Immken LaDonna L; Patel Gayle; Abbott Mary-Alice; Lanpher Brendan C; Ou Zhishuo; Kang Sung-Hae L; Patel Ankita; Scaglia Fernando; Lupski James R; Cheung Sau Wai; Stankiewicz Pawel
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Human genetics 2009;126(4):589-602.
2009: Leal Alejandro; Huehne Kathrin; Bauer Finn; Sticht Heinrich; Berger Philipp; Suter Ueli; Morera Bernal; Del Valle Gerardo; Lupski James R; Ekici Arif; Pasutto Francesca; Endele Sabine; Barrantes Ramiro; Berghoff Corinna; Berghoff Martin; Neundörfer Bernhard; Heuss Dieter; Dorn Thomas; Young Peter; Santolin Lisa; Uhlmann Thomas; Meisterernst Michael; Sereda Michael; Zu Horste Gerd Meyer; Nave Klaus-Armin; Reis André; Rautenstrauss Bernd
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: Hastings P J; Lupski James R; Rosenberg Susan M; Ira Grzegorz
Mechanisms of change in gene copy number.
Nature reviews. Genetics 2009;10(8):551-64.
2009: Zhang Feng; Carvalho Claudia M B; Lupski James R
Complex human chromosomal and genomic rearrangements.
Trends in genetics : TIG 2009;25(7):298-307.
2009: Zhang Feng; Khajavi Mehrdad; Connolly Anne M; Towne Charles F; Batish Sat Dev; Lupski James R
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.
Nature genetics 2009;41(7):849-53.
2009: Carvalho Claudia M B; Zhang Feng; Liu Pengfei; Patel Ankita; Sahoo Trilochan; Bacino Carlos A; Shaw Chad; Peacock Sandra; Pursley Amber; Tavyev Y Jane; Ramocki Melissa B; Nawara Magdalena; Obersztyn Ewa; Vianna-Morgante Angela M; Stankiewicz Pawel; Zoghbi Huda Y; Cheung Sau Wai; Lupski James R
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: Yatsenko Svetlana A; Brundage Ellen K; Roney Erin K; Cheung Sau Wai; Chinault A Craig; Lupski James R
Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.
Human molecular genetics 2009;18(11):1924-36.
2009: Ben-Shachar S; Lanpher B; German J R; Qasaymeh M; Potocki L; Nagamani S C Sreenath; Franco L M; Malphrus A; Bottenfield G W; Spence J E; Amato S; Rousseau J A; Moghaddam B; Skinner C; Skinner S A; Bernes S; Armstrong N; Shinawi M; Stankiewicz P; Patel A; Cheung S-W; Lupski J R; Beaudet A L; Sahoo T
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: Szigeti Kinga; Lupski James R
Charcot-Marie-Tooth disease.
European journal of human genetics : EJHG 2009;17(6):703-10.
2009: Yatsenko Svetlana A; Shaw Chad A; Ou Zhishuo; Pursley Amber N; Patel Ankita; Bi Weimin; Cheung Sau Wai; Lupski James R; Chinault A Craig; Beaudet Arthur L
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: Nagamani Sandesh Chakravarthy Sreenath; Erez Ayelet; Eng Christine; Ou Zhishuo; Chinault Craig; Workman Laura; Coldwell James; Stankiewicz Pawel; Patel Ankita; Lupski James R; Cheung Sau Wai
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: Ben-Shachar S; Khajavi M; Withers M A; Shaw C A; van Bokhoven H; Brunner H G; Lupski J R
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?
Clinical genetics 2009;75(4):394-400.
2009: Wang Hui; den Hollander Anneke I; Moayedi Yalda; Abulimiti Abuduaini; Li Yumei; Collin Rob W J; Hoyng Carel B; Lopez Irma; Bray Molly; Lewis Richard Alan; Lupski James R; Mardon Graeme; Koenekoop Robert K; Chen Rui
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
American journal of human genetics 2009;84(3):380-7.
2009: Li Yumei; Wang Hui; Peng Jianlan; Gibbs Richard A; Lewis Richard Alan; Lupski James R; Mardon Graeme; Chen Rui
Mutation survey of known LCA genes and loci in the Saudi Arabian population.
Investigative ophthalmology & visual science 2009;50(3):1336-43.
2009: Bi Weimin; Sapir Tamar; Shchelochkov Oleg A; Zhang Feng; Withers Marjorie A; Hunter Jill V; Levy Talia; Shinder Vera; Peiffer Daniel A; Gunderson Kevin L; Nezarati Marjan M; Shotts Vern Ann; Amato Stephen S; Savage Sarah K; Harris David J; Day-Salvatore Debra-Lynn; Horner Michele; Lu Xin-Yan; Sahoo Trilochan; Yanagawa Yuchio; Beaudet Arthur L; Cheung Sau Wai; Martinez Salvador; Lupski James R; Reiner Orly
Increased LIS1 expression affects human and mouse brain development.
Nature genetics 2009;41(2):168-77.
2009: Hastings P J; Ira Grzegorz; Lupski James R
A microhomology-mediated break-induced replication model for the origin of human copy number variation.
PLoS genetics 2009;5(1):e1000327.
2009: Van den Veyver Ignatia B; Patel Ankita; Shaw Chad A; Pursley Amber N; Kang Sung-Hae L; Simovich Marcia J; Ward Patricia A; Darilek Sandra; Johnson Anthony; Neill Sarah E; Bi Weimin; White Lisa D; Eng Christine M; Lupski James R; Cheung Sau Wai; Beaudet Arthur L
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.
Prenatal diagnosis 2009;29(1):29-39.
2009: Zhang Feng; Gu Wenli; Hurles Matthew E; Lupski James R
Copy number variation in human health, disease, and evolution.
Annual review of genomics and human genetics 2009;10():451-81.
2009: Lupski James R
Genomic disorders ten years on.
Genome medicine 2009;1(4):42.
2008: Lu Xin-Yan; Phung Mai T; Shaw Chad A; Pham Kim; Neil Sarah E; Patel Ankita; Sahoo Trilochan; Bacino Carlos A; Stankiewicz Pawel; Kang Sung-Hae Lee; Lalani Seema; Chinault A Craig; Lupski James R; Cheung Sau W; Beaudet Arthur L
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.
Pediatrics 2008;122(6):1310-8.
2008: Carvalho Claudia M B; Lupski James R
Copy number variation at the breakpoint region of isochromosome 17q.
Genome research 2008;18(11):1724-32.
2008: Lupski James R
Schizophrenia: Incriminating genomic evidence.
Nature 2008;455(7210):178-9.
2008: Shao Lina; Shaw Chad A; Lu Xin-Yan; Sahoo Trilochan; Bacino Carlos A; Lalani Seema R; Stankiewicz Pawel; Yatsenko Svetlana A; Li Yinfeng; Neill Sarah; Pursley Amber N; Chinault A Craig; Patel Ankita; Beaudet Arthur L; Lupski James R; Cheung Sau W
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: Molina Jessica; Carmona-Mora Paulina; Chrast Jacqueline; Krall Paola M; Canales César P; Lupski James R; Reymond Alexandre; Walz Katherina
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: Lupski James R
Allan Award Introduction: Arthur L. Beaudet.
American journal of human genetics 2008;82(5):1032-3.
2008: Tobin Jonathan L; Di Franco Matt; Eichers Erica; May-Simera Helen; Garcia Monica; Yan Jiong; Quinlan Robyn; Justice Monica J; Hennekam Raoul C; Briscoe James; Tada Masazumi; Mayor Roberto; Burns Alan J; Lupski James R; Hammond Peter; Beales Philip L
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: Wheeler David A; Srinivasan Maithreyan; Egholm Michael; Shen Yufeng; Chen Lei; McGuire Amy; He Wen; Chen Yi-Ju; Makhijani Vinod; Roth G Thomas; Gomes Xavier; Tartaro Karrie; Niazi Faheem; Turcotte Cynthia L; Irzyk Gerard P; Lupski James R; Chinault Craig; Song Xing-zhi; Liu Yue; Yuan Ye; Nazareth Lynne; Qin Xiang; Muzny Donna M; Margulies Marcel; Weinstock George M; Gibbs Richard A; Rothberg Jonathan M
The complete genome of an individual by massively parallel DNA sequencing.
Nature 2008;452(7189):872-6.
2008: Ou Zhishuo; Berg Jonathan S; Yonath Hagith; Enciso Victoria B; Miller David T; Picker Jonathan; Lenzi Tiffanee; Keegan Catherine E; Sutton Vernon R; Belmont John; Chinault A Craig; Lupski James R; Cheung Sau Wai; Roeder Elizabeth; Patel Ankita
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: Doco-Fenzy Martine; Holder-Espinasse Muriel; Bieth Eric; Magdelaine Corinne; Vincent Marie-Claire; Khoury Maroun; Andrieux Joris; Zhang Feng; Lupski James R; Klink Rabih; Schneider Anouck; Goze-Martineau Odile; Cuisset Jean-Marie; Vallee Louis; Manouvrier-Hanu Sylvie; Gaillard Dominique; de Martinville Bérengère
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: Khajavi Mehrdad; Lupski James R
Balancing between adaptive and maladaptive cellular stress responses in peripheral neuropathy.
Neuron 2008;57(3):329-30.
2008: Ben-Shachar Shay; Ou Zhishuo; Shaw Chad A; Belmont John W; Patel Millan S; Hummel Marybeth; Amato Stephen; Tartaglia Nicole; Berg Jonathan; Sutton V Reid; Lalani Seema R; Chinault A Craig; Cheung Sau W; Lupski James R; Patel Ankita
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.
2008: Gu W; Lupski J R
CNV and nervous system diseases--what's new?
Cytogenetic and genome research 2008;123(1-4):54-64.
2008: Gu Wenli; Zhang Feng; Lupski James R
Mechanisms for human genomic rearrangements.
PathoGenetics 2008;1(1):4.
2007: Lee Jennifer A; Carvalho Claudia M B; Lupski James R
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders.
Cell 2007;131(7):1235-47.
2007: Abd-El-Barr Muhammad M; Sykoudis Kristen; Andrabi Sara; Eichers Erica R; Pennesi Mark E; Tan Perciliz L; Wilson John H; Katsanis Nicholas; Lupski James R; Wu Samuel M
Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome.
Vision research 2007;47(27):3394-407.
2007: Lupski James R
An evolution revolution provides further revelation.
BioEssays : news and reviews in molecular, cellular and developmental biology 2007;29(12):1182-4.
2007: Inoue Ken; Ohyama Tomoko; Sakuragi Yosuke; Yamamoto Ryoko; Inoue Naoko A; Yu Li-Hua; Goto Yu-ichi; Wegner Michael; Lupski James R
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: Simovich Marcia J; Yatsenko Svetlana A; Kang Sung-Hae L; Cheung Sau Wai; Dudek Martha E; Pursley Amber; Ward Patricia A; Patel Ankita; Lupski James R
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: Szigeti Kinga; Wiszniewski Wojciech; Saifi Gulam Mustafa; Sherman Diane L; Sule Norbert; Adesina Adekunle M; Mancias Pedro; Papasozomenos Sozos Ch; Miller Geoffrey; Keppen Laura; Daentl Donna; Brophy Peter J; Lupski James R
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.
Neurogenetics 2007;8(4):257-62.
2007: Babcock Melanie; Yatsenko Svetlana; Hopkins Janet; Brenton Matthew; Cao Qing; de Jong Pieter; Stankiewicz Pawel; Lupski James R; Sikela James M; Morrow Bernice E
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: Khajavi Mehrdad; Shiga Kensuke; Wiszniewski Wojciech; He Feng; Shaw Chad A; Yan Jiong; Wensel Theodore G; Snipes G Jackson; Lupski James R
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: Cheung Sau W; Shaw Chad A; Scott Daryl A; Patel Ankita; Sahoo Trilochan; Bacino Carlos A; Pursley Amber; Li Jiangzhen; Erickson Robert; Gropman Andrea L; Miller David T; Seashore Margretta R; Summers Anne M; Stankiewicz Pawel; Chinault A Craig; Lupski James R; Beaudet Arthur L; Sutton V Reid
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.
American journal of medical genetics. Part A 2007;143A(15):1679-86.
2007: Bi Weimin; Yan Jiong; Shi Xin; Yuva-Paylor Lisa A; Antalffy Barbara A; Goldman Alica; Yoo Jong W; Noebels Jeffrey L; Armstrong Dawna L; Paylor Richard; Lupski James R
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: Smyk Marta; Berg Jonathan S; Pursley Amber; Curtis Fiona K; Fernandez Bridget A; Bien-Willner Gabriel A; Lupski James R; Cheung Sau Wai; Stankiewicz Pawel
Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).
Human genetics 2007;122(1):63-70.
2007: Berg Jonathan S; Brunetti-Pierri Nicola; Peters Sarika U; Kang Sung-Hae L; Fong Chin-to; Salamone Jessica; Freedenberg Debra; Hannig Vickie L; Prock Lisa Albers; Miller David T; Raffalli Peter; Harris David J; Erickson Robert P; Cunniff Christopher; Clark Gary D; Blazo Maria A; Peiffer Daniel A; Gunderson Kevin L; Sahoo Trilochan; Patel Ankita; Lupski James R; Beaudet Arthur L; Cheung Sau Wai
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: Gherman Adrian; Chen Peter E; Teslovich Tanya M; Stankiewicz Pawel; Withers Marjorie; Kashuk Carl S; Chakravarti Aravinda; Lupski James R; Cutler David J; Katsanis Nicholas
Population bottlenecks as a potential major shaping force of human genome architecture.
PLoS genetics 2007;3(7):e119.
2007: Lupski James R
Genomic rearrangements and sporadic disease.
Nature genetics 2007;39(7 Suppl):S43-7.
2007: Chow Clement Y; Zhang Yanling; Dowling James J; Jin Natsuko; Adamska Maja; Shiga Kensuke; Szigeti Kinga; Shy Michael E; Li Jun; Zhang Xuebao; Lupski James R; Weisman Lois S; Meisler Miriam H
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
Nature 2007;448(7149):68-72.
2007: Vissers L E L M; Stankiewicz P; Yatsenko S A; Crawford E; Creswick H; Proud V K; de Vries B B A; Pfundt R; Marcelis C L M; Zackowski J; Bi W; van Kessel A Geurts; Lupski J R; Veltman J A
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.
Human genetics 2007;121(6):697-709.
2007: Edelman E A; Girirajan S; Finucane B; Patel P I; Lupski J R; Smith A C M; Elsea S H
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.
Clinical genetics 2007;71(6):540-50.
2007: Eichler Evan E; Nickerson Deborah A; Altshuler David; Bowcock Anne M; Brooks Lisa D; Carter Nigel P; Church Deanna M; Felsenfeld Adam; Guyer Mark; Lee Charles; Lupski James R; Mullikin James C; Pritchard Jonathan K; Sebat Jonathan; Sherry Stephen T; Smith Douglas; Valle David; Waterston Robert H
Completing the map of human genetic variation.
Nature 2007;447(7141):161-5.
2007: Bien-Willner Gabriel A; Stankiewicz Pawel; Lupski James R
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: Wiszniewski Wojciech; Lewis Richard Alan; Lupski James R
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: Magner Daniel B; Blankschien Matthew D; Lee Jennifer A; Pennington Jeanine M; Lupski James R; Rosenberg Susan M
RecQ promotes toxic recombination in cells lacking recombination intermediate-removal proteins.
Molecular cell 2007;26(2):273-86.
2007: Potocki Lorraine; Bi Weimin; Treadwell-Deering Diane; Carvalho Claudia M B; Eifert Anna; Friedman Ellen M; Glaze Daniel; Krull Kevin; Lee Jennifer A; Lewis Richard Alan; Mendoza-Londono Roberto; Robbins-Furman Patricia; Shaw Chad; Shi Xin; Weissenberger George; Withers Marjorie; Yatsenko Svetlana A; Zackai Elaine H; Stankiewicz Pawel; Lupski James R
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: Lu Weining; van Eerde Albertien M; Fan Xueping; Quintero-Rivera Fabiola; Kulkarni Shashikant; Ferguson Heather; Kim Hyung-Goo; Fan Yanli; Xi Qiongchao; Li Qing-Gang; Sanlaville Damien; Andrews William; Sundaresan Vasi; Bi Weimin; Yan Jiong; Giltay Jacques C; Wijmenga Cisca; de Jong Tom P V M; Feather Sally A; Woolf Adrian S; Rao Yi; Lupski James R; Eccles Michael R; Quade Bradley J; Gusella James F; Morton Cynthia C; Maas Richard L
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: Babcock Melanie; Yatsenko Svetlana; Stankiewicz Pawel; Lupski James R; Morrow Bernice E
AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.
Genome research 2007;17(4):451-60.
2007: Lupski James R
Structural variation in the human genome.
The New England journal of medicine 2007;356(11):1169-71.
2007: Yan Jiong; Bi Weimin; Lupski James R
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: Leipoldt M; Erdel M; Bien-Willner G A; Smyk M; Theurl M; Yatsenko S A; Lupski J R; Lane A H; Shanske A L; Stankiewicz P; Scherer G
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.
2007: Lu Xinyan; Shaw Chad A; Patel Ankita; Li Jiangzhen; Cooper M Lance; Wells William R; Sullivan Cathy M; Sahoo Trilochan; Yatsenko Svetlana A; Bacino Carlos A; Stankiewicz Pawel; Ou Zhishu; Chinault A Craig; Beaudet Arthur L; Lupski James R; Cheung Sau W; Ward Patricia A
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.
PloS one 2007;2(3):e327.
2006: del Gaudio Daniela; Fang Ping; Scaglia Fernando; Ward Patricia A; Craigen William J; Glaze Daniel G; Neul Jeffrey L; Patel Ankita; Lee Jennifer A; Irons Mira; Berry Susan A; Pursley Amber A; Grebe Theresa A; Freedenberg Debra; Martin Rick A; Hsich Gary E; Khera Jena R; Friedman Neil R; Zoghbi Huda Y; Eng Christine M; Lupski James R; Beaudet Arthur L; Cheung Sau Wai; Roa Benjamin B
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: Bi Weimin; Saifi G Mustafa; Girirajan Santhosh; Shi Xin; Szomju Barbara; Firth Helen; Magenis R Ellen; Potocki Lorraine; Elsea Sarah H; Lupski James R
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: Lindsay Sarah J; Khajavi Mehrdad; Lupski James R; Hurles Matthew E
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: Walz Katherina; Paylor Richard; Yan Jiong; Bi Weimin; Lupski James R
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: Lee Jennifer A; Lupski James R
Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders.
Neuron 2006;52(1):103-21.
2006: Khajavi Mehrdad; Inoue Ken; Lupski James R
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease.
European journal of human genetics : EJHG 2006;14(10):1074-81.
2006: Lupski James R
Genome structural variation and sporadic disease traits.
Nature genetics 2006;38(9):974-6.
2006: Eichers Erica R; Abd-El-Barr Muhammad M; Paylor Richard; Lewis Richard Alan; Bi Weimin; Lin Xiaodi; Meehan Thomas P; Stockton David W; Wu Samuel M; Lindsay Elizabeth; Justice Monica J; Beales Philip L; Katsanis Nicholas; Lupski James R
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.
Human genetics 2006;120(2):211-26.
2006: Ou Zhishuo; Jarmuz Malgorzata; Sparagana Steven P; Michaud Jacques; Décarie Jean-Claude; Yatsenko Svetlana A; Nowakowska Beata; Furman Patti; Shaw Chad A; Shaffer Lisa G; Lupski James R; Chinault A Craig; Cheung Sau W; Stankiewicz Pawel
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: Lee Jennifer A; Inoue Ken; Cheung Sau W; Shaw Chad A; Stankiewicz Pawel; Lupski James R
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
Human molecular genetics 2006;15(14):2250-65.
2006: Yan Jiong; Saifi Gulam Mustafa; Wierzba Tomasz H; Withers Marjorie; Bien-Willner Gabriel A; Limon Janusz; Stankiewicz Pawel; Lupski James R; Wierzba Jolanta
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: Madduri Niru; Peters Sarika U; Voigt Robert G; Llorente Antolin M; Lupski James R; Potocki Lorraine
Cognitive and adaptive behavior profiles in Smith-Magenis syndrome.
Journal of developmental and behavioral pediatrics : JDBP 2006;27(3):188-92.
2006: Bidinost Carla; Hernandez Natalie; Edward Deepak P; Al-Rajhi Ali; Lewis Richard Alan; Lupski James R; Stockton David W; Bejjani Bassem A
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: Stankiewicz Pawel; Kuechler Alma; Eller C Daniel; Sahoo Trilochan; Baldermann Christiane; Lieser Ulla; Hesse Martin; Gläser Christiane; Hagemann Monika; Yatsenko Svetlana A; Liehr Thomas; Horsthemke Bernhard; Claussen Uwe; Marahrens York; Lupski James R; Hansmann Ingo
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: Goldman Alica M; Potocki Lorraine; Walz Katherina; Lynch Jennifer K; Glaze Daniel G; Lupski James R; Noebels Jeffrey L
Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)].
Journal of child neurology 2006;21(2):93-8.
2006: Szigeti Kinga; Garcia Carlos A; Lupski James R
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: Shy Michael E; Scavina Mena T; Clark Alisa; Krajewski Karen M; Li Jun; Kamholz John; Kolodny Edwin; Szigeti Kinga; Fischer Richard A; Saifi Gulam Mustafa; Scherer Steven S; Lupski James R
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
Annals of neurology 2006;59(2):358-64.
2006: Lee Jennifer A; Madrid Ricardo E; Sperle Karen; Ritterson Carolyn M; Hobson Grace M; Garbern James; Lupski James R; Inoue Ken
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.
Annals of neurology 2006;59(2):398-403.
2006: Szigeti Kinga; Nelis Eva; Lupski James R
Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.
Neuromolecular medicine 2006;8(1-2):243-54.
2006: Timmerman Vincent; Lupski James R; De Jonghe Peter
Molecular genetics, biology, and therapy for inherited peripheral neuropathies.
Neuromolecular medicine 2006;8(1-2):1-2.
2005: Lupski James R; Stankiewicz Pawel
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.
PLoS genetics 2005;1(6):e49.
2005: Lee Jennifer A; Cheung Sau W; Ward Patricia A; Inoue Ken; Lupski James R
Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization.
Prenatal diagnosis 2005;25(13):1188-91.
2005: Tonk Vijay S; Wilson Golder N; Yatsenko Svetlana A; Stankiewicz Pawel; Lupski James R; Schutt Robert C; Northup J K; Velagaleti Gopalrao V N
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: Thompson Debra A; Janecke Andreas R; Lange Jessica; Feathers Kecia L; Hübner Christian A; McHenry Christina L; Stockton David W; Rammesmayer Gabriele; Lupski James R; Antinolo Guillermo; Ayuso Carmen; Baiget Montserrat; Gouras Peter; Heckenlively John R; den Hollander Anneke; Jacobson Samuel G; Lewis Richard A; Sieving Paul A; Wissinger Bernd; Yzer Suzanne; Zrenner Eberhart; Utermann Gerd; Gal Andreas
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: Khajavi Mehrdad; Inoue Ken; Wiszniewski Wojciech; Ohyama Tomoko; Snipes G Jackson; Lupski James R
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: Borg Katarzyna; Stankiewicz Pawel; Bocian Ewa; Kruczek Anna; Obersztyn Ewa; Lupski James R; Mazurczak Tadeusz
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: Ross Alison J; May-Simera Helen; Eichers Erica R; Kai Masatake; Hill Josephine; Jagger Daniel J; Leitch Carmen C; Chapple J Paul; Munro Peter M; Fisher Shannon; Tan Perciliz L; Phillips Helen M; Leroux Michel R; Henderson Deborah J; Murdoch Jennifer N; Copp Andrew J; Eliot Marie-Madeleine; Lupski James R; Kemp David T; Dollfus Hélène; Tada Masazumi; Katsanis Nicholas; Forge Andrew; Beales Philip L
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
Nature genetics 2005;37(10):1135-40.
2005: Yatsenko Svetlana A; Treadwell-Deering Diane; Krull Kevin; Lewis Richard Alan; Glaze Daniel; Stankiewicz Pawel; Lupski James R; Potocki Lorraine
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: Wiszniewski Wojciech; Zaremba Charles M; Yatsenko Alexander N; Jamrich Milan; Wensel Theodore G; Lewis Richard Alan; Lupski James R
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
Human molecular genetics 2005;14(19):2769-78.
2005: Kurotaki Naohiro; Shen Joseph J; Touyama Mayumi; Kondoh Tatsuro; Visser Remco; Ozaki Takao; Nishimoto Junji; Shiihara Takashi; Uetake Kimiaki; Makita Yoshio; Harada Naoki; Raskin Salmo; Brown Chester W; Höglund Pia; Okamoto Nobuhiko; Lupski James R
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: Stankiewicz Pawel; Thiele Hannelore; Schlicker Mike; Cseke-Friedrich Andrea; Bartel-Friedrich Sylva; Yatsenko Svetlana A; Lupski James R; Hansmann Ingo
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: Bien-Willner Gabriel A; Stankiewicz Pawel; Lupski James R; Northup Jill K; Velagaleti Gopalrao V N
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: Cheung Sau W; Shaw Chad A; Yu Wei; Li Jiangzham; Ou Zhishuo; Patel Ankita; Yatsenko Svetlana A; Cooper Mitchell L; Furman Patti; Stankiewicz Pawel; Lupski James R; Chinault A Craig; Beaudet Arthur L
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: Yatsenko S A; Cheung S W; Scott D A; Nowaczyk M J M; Tarnopolsky M; Naidu S; Bibat G; Patel A; Leroy J G; Scaglia F; Stankiewicz P; Lupski J R
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: Saifi Gulam Mustafa; Szigeti Kinga; Wiszniewski Wojciech; Shy Michael E; Krajewski Karen; Hausmanowa-Petrusewicz Irena; Kochanski Andrzej; Reeser Suzanne; Mancias Pedro; Butler Ian; Lupski James R
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: Bi Weimin; Ohyama Tomoko; Nakamura Hisashi; Yan Jiong; Visvanathan Jaya; Justice Monica J; Lupski James R
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: Velagaleti Gopalrao V N; Bien-Willner Gabriel A; Northup Jill K; Lockhart Lillian H; Hawkins Judy C; Jalal Syed M; Withers Marjorie; Lupski James R; Stankiewicz Pawel
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: Mishaan Ana M Avalos; Mason Edward O; Martinez-Aguilar Gerardo; Hammerman Wendy; Propst Jennifer J; Lupski James R; Stankiewicz Pawel; Kaplan Sheldon L; Hulten Kristina
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: El-Khamisy Sherif F; Saifi Gulam M; Weinfeld Michael; Johansson Fredrik; Helleday Thomas; Lupski James R; Caldecott Keith W
Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1.
Nature 2005;434(7029):108-13.
2005: Kurotaki Naohiro; Stankiewicz Pawel; Wakui Keiko; Niikawa Norio; Lupski James R
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: Shen Joseph J; Kurotaki N; Patel A; Lupski J R; Brown C W
Low factor XII level in an individual with Sotos syndrome.
Pediatric blood & cancer 2005;44(2):187-9.
2005: Yatsenko Alexander N; Wiszniewski Wojciech; Zaremba Charles M; Jamrich Milan; Lupski James R
Evolution of ABCA4 proteins in vertebrates.
Journal of molecular evolution 2005;60(1):72-80.
2005: Healy Mimi; Huong Joe; Bittner Traci; Lising Maricel; Frye Stacie; Raza Sabeen; Schrock Robert; Manry Janet; Renwick Alex; Nieto Robert; Woods Charles; Versalovic James; Lupski James R
Microbial DNA typing by automated repetitive-sequence-based PCR.
Journal of clinical microbiology 2005;43(1):199-207.
2005: Shaw Christine J; Lupski James R
Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms.
Human genetics 2005;116(1-2):1-7.
2005: Zhou Tong; Lee Jae Wan; Tatavarthi Haritha; Lupski James R; Valerie Kristoffer; Povirk Lawrence F
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.
2004: Szigeti K; Sule N; Adesina A M; Armstrong D L; Saifi G M; Bonilla E; Hirano M; Lupski J R
Increased blood-brain barrier permeability with thymidine phosphorylase deficiency.
Annals of neurology 2004;56(6):881-6.
2004: Bi Weimin; Saifi G Mustafa; Shaw Christine J; Walz Katherina; Fonseca Patricia; Wilson Meredith; Potocki Lorraine; Lupski James R
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.
Human genetics 2004;115(6):515-24.
2004: Stankiewicz Pawell; Shaw Christine J; Withers Marjorie; Inoue Ken; Lupski James R
Serial segmental duplications during primate evolution result in complex human genome architecture.
Genome research 2004;14(11):2209-20.
2004: Yan Jiong; Keener Victoria W; Bi Weimin; Walz Katherina; Bradley Allan; Justice Monica J; Lupski James R
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: Kulaga Heather M; Leitch Carmen C; Eichers Erica R; Badano Jose L; Lesemann Alysa; Hoskins Bethan E; Lupski James R; Beales Philip L; Reed Randall R; Katsanis Nicholas
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: Yatsenko S A; Yatsenko A N; Szigeti K; Craigen W J; Stankiewicz P; Cheung S W; Lupski J R
Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome.
Clinical genetics 2004;66(2):128-36.
2004: Shaw Christine J; Withers Marjorie A; Lupski James R
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: Shaw Christine J; Stankiewicz Pawel; Bien-Willner Gabriel; Bello Scott C; Shaw Chad A; Carrera Marta; Perez Jurado Luis; Estivill Xavier; Lupski James R
Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.
Human genetics 2004;115(1):1-7.
2004: Inoue Ken; Khajavi Mehrdad; Ohyama Tomoko; Hirabayashi Shin-ichi; Wilson John; Reggin James D; Mancias Pedro; Butler Ian J; Wilkinson Miles F; Wegner Michael; Lupski James R
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.
Nature genetics 2004;36(4):361-9.
2004: Shaw Christine J; Lupski James R
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: Szigeti K; Wong L-J C; Perng C-L; Saifi G M; Eldin K; Adesina A M; Cass D L; Hirano M; Lupski J R; Scaglia F
MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.
Journal of medical genetics 2004;41(2):125-9.
2004: Shaw C J; Shaw C A; Yu W; Stankiewicz P; White L D; Beaudet A L; Lupski J R
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: Walz Katherina; Spencer Corinne; Kaasik Krista; Lee Cheng C; Lupski James R; Paylor Richard
Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).
Human molecular genetics 2004;13(4):367-78.
2004: Midro Alina T; Panasiuk Barbara; Tümer Zeynep; Stankiewicz Pawel; Silahtaroglu Asli; Lupski James R; Zemanova Zuzana; Stasiewicz-Jarocka Beata; Hubert Ewa; Tarasów Eugeniusz; Famulski Waldemar; Zadrozna-Tolwinska Barbara; Wasilewska Ewa; Kirchhoff Marie; Kalscheuer Vera; Michalova Kyra; Tommerup Niels
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: Shaw Christine J; Stankiewicz Pawel; Christodoulou John; Smith Ellie; Jones Kristi; Lupski James R
A girl with duplication 17p10-p12 associated with a dicentric chromosome.
American journal of medical genetics. Part A 2004;124A(2):173-8.
2004: Barbouti Aikaterini; Stankiewicz Pawel; Nusbaum Chad; Cuomo Christina; Cook April; Höglund Mattias; Johansson Bertil; Hagemeijer Anne; Park Sung-Sup; Mitelman Felix; Lupski James R; Fioretos Thoas
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.
2004: Lupski James R
Hotspots of homologous recombination in the human genome: not all homologous sequences are equal.
Genome biology 2004;5(10):242.
2004: Eichers Erica R; Lewis Richard Alan; Katsanis Nicholas; Lupski James R
Triallelic inheritance: a bridge between Mendelian and multifactorial traits.
Annals of medicine 2004;36(4):262-72.
2003: Toki Fumiaki; Suzuki Norio; Inoue Ken; Suzuki Makoto; Hirakata Kyoko; Nagai Kyoko; Kuroiwa Minoru; Lupski James R; Tsuchida Yoshiaki
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: Bi Weimin; Park Sung-Sup; Shaw Christine J; Withers Marjorie A; Patel Pragna I; Lupski James R
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: Shen J J; Brown C A; Lupski J R; Potocki L
Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.
Journal of medical genetics 2003;40(11):854-7.
2003: Potocki Lorraine; Shaw Christine J; Stankiewicz Pawel; Lupski James R
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: Yan Jiong; Walz Katherina; Nakamura Hisashi; Carattini-Rivera Sandra; Zhao Qi; Vogel Hannes; Wei Ning; Justice Monica J; Bradley Allan; Lupski James R
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: Saifi Gulam Mustafa; Szigeti Kinga; Snipes G Jackson; Garcia Carlos A; Lupski James R
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: Szigeti Kinga; Saifi Gulam Mustafa; Armstrong Dawna; Belmont John W; Miller Geoffrey; Lupski James R
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: Hanson Miriam; Lupski James R; Hicks John; Metry Denise
Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis.
Archives of dermatology 2003;139(7):916-20.
2003: Inoue Ken; Lupski James R
Genetics and genomics of behavioral and psychiatric disorders.
Current opinion in genetics & development 2003;13(3):303-9.
2003: Yatsenko Alexander N; Shroyer Noah F; Lewis Richard A; Lupski James R
An ABCA4 genomic deletion in patients with Stargardt disease.
Human mutation 2003;21(6):636-44.
2003: Walz Katherina; Caratini-Rivera Sandra; Bi Weimin; Fonseca Patricia; Mansouri Dena L; Lynch Jennifer; Vogel Hannes; Noebels Jeffrey L; Bradley Allan; Lupski James R
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: Beales Philip L; Badano Jose L; Ross Alison J; Ansley Stephen J; Hoskins Bethan E; Kirsten Brigitta; Mein Charles A; Froguel Philippe; Scambler Peter J; Lewis Richard Alan; Lupski James R; Katsanis Nicholas
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: Stankiewicz Pawel; Shaw Christine J; Dapper Jason D; Wakui Keiko; Shaffer Lisa G; Withers Marjorie; Elizondo Leah; Park Sung-Sup; Lupski James R
Genome architecture catalyzes nonrecurrent chromosomal rearrangements.
American journal of human genetics 2003;72(5):1101-16.
2003: Schlesinger Alan E; Potocki Lorraine; Poznanski Andrew K; Lupski James R
The hand in Smith-Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis.
Pediatric radiology 2003;33(3):173-6.
2003: Boerkoel Cornelius F; Takashima Hiroshi; Nakagawa Masanori; Izumo Shuji; Armstrong Dawna; Butler Ian; Mancias Pedro; Papasozomenos Sozos C H; Stern Lawrence Z; Lupski James R
CMT4A: identification of a Hispanic GDAP1 founder mutation.
Annals of neurology 2003;53(3):400-5.
2003: Badano José L; Ansley Stephen J; Leitch Carmen C; Lewis Richard Alan; Lupski James R; Katsanis Nicholas
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: Jordanova A; De Jonghe P; Boerkoel C F; Takashima H; De Vriendt E; Ceuterick C; Martin J-J; Butler I J; Mancias P; Papasozomenos S Ch; Terespolsky D; Potocki L; Brown C W; Shy M; Rita D A; Tournev I; Kremensky I; Lupski J R; Timmerman V
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: Lupski James R
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: Stankiewicz P; Inoue K; Bi W; Walz K; Park S S; Kurotaki N; Shaw C J; Fonseca P; Yan J; Lee J A; Khajavi M; Lupski J R
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: Stankiewicz P; Cheung S W; Shaw C J; Saleki R; Szigeti K; Lupski J R
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: Inoue Ken; Shilo Konstantin; Boerkoel Cornelius F; Crowe Carol; Sawady Joram; Lupski James R; Agamanolis Dimitri P
Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.
Annals of neurology 2002;52(6):836-42.
2002: Shaw Christine J; Bi Weimin; Lupski James R
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: Katsanis Nicholas; Worley Kim C; Gonzalez Guillermo; Ansley Stephen J; Lupski James R
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: Shlush Liran I; Behar Doron M; Zelazny Adrian; Keller Nathy; Lupski James R; Beaudet Arthur L; Bercovich Dani
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: Inoue Ken; Osaka Hitoshi; Thurston Virginia C; Clarke Joe T R; Yoneyama Akira; Rosenbarker Lisa; Bird Thomas D; Hodes M E; Shaffer Lisa G; Lupski James R
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: Takashima Hiroshi; Boerkoel Cornelius F; John Joy; Saifi Gulam Mustafa; Salih Mustafa A M; Armstrong Dawna; Mao Yuxin; Quiocho Florante A; Roa Benjamin B; Nakagawa Masanori; Stockton David W; Lupski James R
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: Lupski James R
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: Bejjani Bassem A; Xu Li; Armstrong Dawna; Lupski James R; Reneker Lixing W
Expression patterns of cytochrome P4501B1 (Cyp1b1) in FVB/N mouse eyes.
Experimental eye research 2002;75(3):249-57.
2002: Katsanis Nicholas; Eichers Erica R; Ansley Stephen J; Lewis Richard Alan; Kayserili Hülya; Hoskins Bethan E; Scambler Peter J; Beales Philip L; Lupski James R
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: Takashima Hiroshi; Boerkoel Cornelius F; De Jonghe Peter; Ceuterick Chantal; Martin Jean-Jacques; Voit Thomas; Schröder J-Michael; Williams Anna; Brophy Peter J; Timmerman Vincent; Lupski James R
Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
Annals of neurology 2002;51(6):709-15.
2002: Stankiewicz Pawel; Lupski James R
Molecular-evolutionary mechanisms for genomic disorders.
Current opinion in genetics & development 2002;12(3):312-9.
2002: Smith Ann C M; Gropman Andrea L; Bailey-Wilson Joan E; Goker-Alpan Ozlem; Elsea Sarah H; Blancato Jan; Lupski James R; Potocki Lorraine
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: Park Sung-Sup; Stankiewicz Pawel; Bi Weimin; Shaw Christine; Lehoczky Jessica; Dewar Ken; Birren Bruce; Lupski James R
Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.
Genome research 2002;12(5):729-38.
2002: Bi Weimin; Yan Jiong; Stankiewicz Pawe; Park Sung-Sup; Walz Katherina; Boerkoel Cornelius F; Potocki Lorraine; Shaffer Lisa G; Devriendt Koen; Nowaczyk Magorzata J M; Inoue Ken; Lupski James R
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: Campbell Hugh D; Fountain Shelley; McLennan Ian S; Berven Leise A; Crouch Michael F; Davy Deborah A; Hooper Jane A; Waterford Kynan; Chen Ken-Shiung; Lupski James R; Ledermann Birgit; Young Ian G; Matthaei Klaus I
Fliih, a gelsolin-related cytoskeletal regulator essential for early mammalian embryonic development.
Molecular and cellular biology 2002;22(10):3518-26.
2002: Eichers Erica R; Green Jane S; Stockton David W; Jackman Christopher S; Whelan James; McNamara J Arch; Johnson Gordon J; Lupski James R; Katsanis Nicholas
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: Boerkoel Cornelius F; Takashima Hiroshi; Garcia Carlos A; Olney Richard K; Johnson John; Berry Katherine; Russo Paul; Kennedy Shelley; Teebi Ahmad S; Scavina Mena; Williams Lowell L; Mancias Pedro; Butler Ian J; Krajewski Karen; Shy Michael; Lupski James R
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Annals of neurology 2002;51(2):190-201.
2002: Bernstein Paul S; Leppert Mark; Singh Nanda; Dean Michael; Lewis Richard Alan; Lupski James R; Allikmets Rando; Seddon Johanna M
Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings.
Investigative ophthalmology & visual science 2002;43(2):466-73.
2002: Stankiewicz Pawel; Lupski James R
Genome architecture, rearrangements and genomic disorders.
Trends in genetics : TIG 2002;18(2):74-82.
2002: Boerkoel Cornelius F; Takashima Hiroshi; Lupski James R
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.
2002: Friedman Thomas B; Hinnant John T; Ghosh Manju; Boger Erich T; Riazuddin S; Lupski James R; Potocki Lorraine; Wilcox Edward R
DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation.
Advances in oto-rhino-laryngology 2002;61():124-30.
2002: Versalovic James; Lupski James R
Molecular detection and genotyping of pathogens: more accurate and rapid answers.
Trends in microbiology 2002;10(10 Suppl):S15-21.
2002: Inoue Ken; Lupski James R
Molecular mechanisms for genomic disorders.
Annual review of genomics and human genetics 2002;3():199-242.
2001: Inoue K; Kanai M; Tanabe Y; Kubota T; Kashork C D; Wakui K; Fukushima Y; Lupski J R; Shaffer L G
Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease.
Prenatal diagnosis 2001;21(13):1133-6.
2001: Inoue K; Tanaka H; Scaglia F; Araki A; Shaffer L G; Lupski J R
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: Stankiewicz P; Parka S S; Holder S E; Waters C S; Palmer R W; Berend S A; Shaffer L G; Potocki L; Lupski J R
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: Liburd N; Ghosh M; Riazuddin S; Naz S; Khan S; Ahmed Z; Riazuddin S; Liang Y; Menon P S; Smith T; Smith A C; Chen K S; Lupski J R; Wilcox E R; Potocki L; Friedman T B
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: Shroyer N F; Lewis R A; Yatsenko A N; Wensel T G; Lupski J R
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: Shroyer N F; Lewis R A; Yatsenko A N; Lupski J R
Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.
Investigative ophthalmology & visual science 2001;42(12):2757-61.
2001: Katsanis N; Lupski J R; Beales P L
Exploring the molecular basis of Bardet-Biedl syndrome.
Human molecular genetics 2001;10(20):2293-9.
2001: Stockton D W; Meade R A; Netscher D T; Epstein M J; Shenaq S M; Shaffer L G; Lupski J R
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: Katsanis N; Ansley S J; Badano J L; Eichers E R; Lewis R A; Hoskins B E; Scambler P J; Davidson W S; Beales P L; Lupski J R
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
Science (New York, N.Y.) 2001;293(5538):2256-9.
2001: Takashima H; Boerkoel C F; Lupski J R
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: Katsanis N; Worley K C; Lupski J R
An evaluation of the draft human genome sequence.
Nature genetics 2001;29(1):88-91.
2001: Boerkoel C F; Takashima H; Bacino C A; Daentl D; Lupski J R
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.
Neurogenetics 2001;3(3):153-7.
2001: Stankiewicz P; Park S S; Inoue K; Lupski J R
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: Katsanis N; Shroyer N F; Lewis R A; Cavender J C; Al-Rajhi A A; Jabak M; Lupski J R
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.
Clinical genetics 2001;59(6):424-9.
2001: Shroyer N F; Lewis R A; Lupski J R
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: Inoue K; Dewar K; Katsanis N; Reiter L T; Lander E S; Devon K L; Wyman D W; Lupski J R; Birren B
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: Badano J L; Inoue K; Katsanis N; Lupski J R
New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis.
Clinical chemistry 2001;47(5):838-43.
2001: Yatsenko A N; Shroyer N F; Lewis R A; Lupski J R
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: Liehr T; Reiter L T; Lupski J R; Murakami T; Claussen U; Rautenstrauss B
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: Beales P L; Katsanis N; Lewis R A; Ansley S J; Elcioglu N; Raza J; Woods M O; Green J S; Parfrey P S; Davidson W S; Lupski J R
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: Edelmann L; Stankiewicz P; Spiteri E; Pandita R K; Shaffer L; Lupski J R; Morrow B E;
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: Boerkoel C F; Takashima H; Stankiewicz P; Garcia C A; Leber S M; Rhee-Morris L; Lupski J R
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
American journal of human genetics 2001;68(2):325-33.
2000: Katsanis N; Beales P L; Woods M O; Lewis R A; Green J S; Parfrey P S; Ansley S J; Davidson W S; Lupski J R
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
Nature genetics 2000;26(1):67-70.
2000: Britton R A; Chen S M; Wallis D; Koeuth T; Powell B S; Shaffer L G; Largaespada D; Jenkins N A; Copeland N G; Court D L; Lupski J R
Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era.
Genomics 2000;67(1):78-82.
2000: Potocki L; Glaze D; Tan D X; Park S S; Kashork C D; Shaffer L G; Reiter R J; Lupski J R
Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.
Journal of medical genetics 2000;37(6):428-33.
2000: Shroyer N F; Lewis R A; Lupski J R
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.
Human genetics 2000;106(2):244-8.
2000: Bejjani B A; Stockton D W; Lewis R A; Tomey K F; Dueker D K; Jabak M; Astle W F; Lupski J R
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: Gutierrez A; England J D; Sumner A J; Ferer S; Warner L E; Lupski J R; Garcia C A
Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease.
Muscle & nerve 2000;23(2):182-8.
2000: Katsanis N; Venable S; Smith J R; Lupski J R
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: Lupski J R
Recessive Charcot-Marie-tooth disease.
Annals of neurology 2000;47(1):6-8.
2000: Potocki L; Chen K S; Park S S; Osterholm D E; Withers M A; Kimonis V; Summers A M; Meschino W S; Anyane-Yeboa K; Kashork C D; Shaffer L G; Lupski J R
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
Nature genetics 2000;24(1):84-7.
1999: Katsanis N; Lewis R A; Stockton D W; Mai P M; Baird L; Beales P L; Leppert M; Lupski J R
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: Kashork C D; Chen K S; Lupski J R; Shaffer L G
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A.
Annals of the New York Academy of Sciences 1999;883():457-9.
1999: Boerkoel C F; Inoue K; Reiter L T; Warner L E; Lupski J R
Molecular mechanisms for CMT1A duplication and HNPP deletion.
Annals of the New York Academy of Sciences 1999;883():22-35.
1999: Reiter L T; Liehr T; Rautenstrauss B; Robertson H M; Lupski J R
Localization of mariner DNA transposons in the human genome by PRINS.
Genome research 1999;9(9):839-43.
1999: Inoue K; Tanabe Y; Lupski J R
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: Shroyer N F; Lewis R A; Allikmets R; Singh N; Dean M; Leppert M; Lupski J R
The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial.
Vision research 1999;39(15):2537-44.
1999: Warner L E; Svaren J; Milbrandt J; Lupski J R
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: Timmerman V; De Jonghe P; Ceuterick C; De Vriendt E; Löfgren A; Nelis E; Warner L E; Lupski J R; Martin J J; Van Broeckhoven C
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.
Neurology 1999;52(9):1827-32.
1999: Kashork C D; Lupski J R; Shaffer L G
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization.
Prenatal diagnosis 1999;19(5):446-9.
1999: Inoue K; Osaka H; Imaizumi K; Nezu A; Takanashi J; Arii J; Murayama K; Ono J; Kikawa Y; Mito T; Shaffer L G; Lupski J R
Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations.
Annals of neurology 1999;45(5):624-32.
1999: Potocki L; Chen K S; Lupski J R
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: Probst F J; Chen K S; Zhao Q; Wang A; Friedman T B; Lupski J R; Camper S A
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: Lupski J R
Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.
Pediatric research 1999;45(2):159-65.
1999: Potocki L; Chen K S; Koeuth T; Killian J; Iannaccone S T; Shapira S K; Kashork C D; Spikes A S; Shaffer L G; Lupski J R
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: Lewis R A; Shroyer N F; Singh N; Allikmets R; Hutchinson A; Li Y; Lupski J R; Leppert M; Dean M
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: Warner L E; Garcia C A; Lupski J R
Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms.
Annual review of medicine 1999;50():263-75.
1998: Lupski J R
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: Bejjani B A; Oberg K C; Wilkins I; Moise A; Langston C; Superti-Furga A; Lupski J R
Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1.
American journal of medical genetics 1998;79(5):392-5.
1998: Stockton D W; Lewis R A; Abboud E B; Al-Rajhi A; Jabak M; Anderson K L; Lupski J R
A novel locus for Leber congenital amaurosis on chromosome 14q24.
Human genetics 1998;103(3):328-33.
1998: Wu Y Q; Sutton V R; Nickerson E; Lupski J R; Potocki L; Korenberg J R; Greenberg F; Tassabehji M; Shaffer L G
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: Zhao Q; Chen K S; Bejjani B A; Lupski J R
Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179.
Genomics 1998;49(3):394-400.
1998: Reiter L T; Hastings P J; Nelis E; De Jonghe P; Van Broeckhoven C; Lupski J R
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: Warner L E; Mancias P; Butler I J; McDonald C M; Keppen L; Koob K G; Lupski J R
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
Nature genetics 1998;18(4):382-4.
1998: Liang Y; Wang A; Probst F J; Arhya I N; Barber T D; Chen K S; Deshmukh D; Dolan D F; Hinnant J T; Carter L E; Jain P K; Lalwani A K; Li X C; Lupski J R; Moeljopawiro S; Morell R; Negrini C; Wilcox E R; Winata S; Camper S A; Friedman T B
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: Britton R A; Powell B S; Dasgupta S; Sun Q; Margolin W; Lupski J R; Court D L
Cell cycle arrest in Era GTPase mutants: a potential growth rate-regulated checkpoint in Escherichia coli.
Molecular microbiology 1998;27(4):739-50.
1998: Bejjani B A; Lewis R A; Tomey K F; Anderson K L; Dueker D K; Jabak M; Astle W F; Otterud B; Leppert M; Lupski J R
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: Lupski J R
Charcot-Marie-Tooth disease: lessons in genetic mechanisms.
Molecular medicine (Cambridge, Mass.) 1998;4(1):3-11.
1997: Chen K S; Manian P; Koeuth T; Potocki L; Zhao Q; Chinault A C; Lee C C; Lupski J R
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: Allikmets R; Shroyer N F; Singh N; Seddon J M; Lewis R A; Bernstein P S; Peiffer A; Zabriskie N A; Li Y; Hutchinson A; Dean M; Lupski J R; Leppert M
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
Science (New York, N.Y.) 1997;277(5333):1805-7.
1997: Reiter L T; Murakami T; Koeuth T; Gibbs R A; Lupski J R
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: Stockton D W; Ross H L; Bacino C A; Altman C A; Shaffer L G; Lupski J R
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: Britton R A; Powell B S; Court D L; Lupski J R
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: Murakami T; Reiter L T; Lupski J R
Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.
Genomics 1997;42(1):161-4.
1997: Campbell H D; Fountain S; Young I G; Claudianos C; Hoheisel J D; Chen K S; Lupski J R
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: Britton R A; Lupski J R
Isolation and characterization of suppressors of two Escherichia coli dnaG mutations, dnaG2903 and parB.
Genetics 1997;145(4):867-75.
1997: Shaffer L G; Kennedy G M; Spikes A S; Lupski J R
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: Allikmets R; Singh N; Sun H; Shroyer N F; Hutchinson A; Chidambaram A; Gerrard B; Baird L; Stauffer D; Peiffer A; Rattner A; Smallwood P; Li Y; Anderson K L; Lewis R A; Nathans J; Leppert M; Dean M; Lupski J R
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
Nature genetics 1997;15(3):236-46.
1997: Versalovic J; Lupski J R
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: Timmerman V; Rautenstrauss B; Reiter L T; Koeuth T; Löfgren A; Liehr T; Nelis E; Bathke K D; De Jonghe P; Grehl H; Martin J J; Lupski J R; Van Broeckhoven C
Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.
Journal of medical genetics 1997;34(1):43-9.
1997: Murakami T; Sun Z S; Lee C C; Lupski J R
Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
Genomics 1997;39(1):99-103.
1997: Rautenstrauss B; Fuchs C; Liehr T; Grehl H; Murakami T; Lupski J R
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: Warner L E; Shohat M; Shorer Z; Lupski J R
Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.
Human mutation 1997;10(1):21-4.
1996: Anderson K L; Lewis R A; Bejjani B A; Baird L; Otterud B; Tomey K F; Astle W F; Dueker D K; Leppert M; Lupski J R
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: Trask B J; Mefford H; van den Engh G; Massa H F; Juyal R C; Potocki L; Finucane B; Abuelo D N; Witt D R; Magenis E; Baldini A; Greenberg F; Lupski J R; Patel P I
Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients.
Human genetics 1996;98(6):710-8.
1996: Woods C R; Koeuth T; Estabrook M M; Lupski J R
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: Murakami T; Garcia C A; Reiter L T; Lupski J R
Charcot-Marie-Tooth disease and related inherited neuropathies.
Medicine 1996;75(5):233-50.
1996: Warner L E; Hilz M J; Appel S H; Killian J M; Kolodry E H; Karpati G; Carpenter S; Watters G V; Wheeler C; Witt D; Bodell A; Nelis E; Van Broeckhoven C; Lupski J R
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: Chen R M; Lupski J R; Greenberg F; Lewis R A
Ophthalmic manifestations of Smith-Magenis syndrome.
Ophthalmology 1996;103(7):1084-91.
1996: Murakami T; Lupski J R
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: Roa B B; Greenberg F; Gunaratne P; Sauer C M; Lubinsky M S; Kozma C; Meck J M; Magenis R E; Shaffer L G; Lupski J R
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: Juyal R C; Figuera L E; Hauge X; Elsea S H; Lupski J R; Greenberg F; Baldini A; Patel P I
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.
American journal of human genetics 1996;58(5):998-1007.
1996: Greenberg F; Lewis R A; Potocki L; Glaze D; Parke J; Killian J; Murphy M A; Williamson D; Brown F; Dutton R; McCluggage C; Friedman E; Sulek M; Lupski J R
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
American journal of medical genetics 1996;62(3):247-54.
1996: Reiter L T; Murakami T; Koeuth T; Pentao L; Muzny D M; Gibbs R A; Lupski J R
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: Shaffer L G; McCaskill C; Hersh J H; Greenberg F; Lupski J R
A clinical and molecular study of mosaicism for trisomy 17.
Human genetics 1996;97(1):69-72.
1996: Lupski J R; Roth J R; Weinstock G M
Chromosomal duplications in bacteria, fruit flies, and humans.
American journal of human genetics 1996;58(1):21-7.
1996: Killian J M; Tiwari P S; Jacobson S; Jackson R D; Lupski J R
Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy.
Muscle & nerve 1996;19(1):74-8.
1996: Warner L E; Reiter L T; Murakami T; Lupski J R
Molecular mechanisms for Charcot-Marie-Tooth disease and related demyelinating peripheral neuropathies.
Cold Spring Harbor symposia on quantitative biology 1996;61():659-71.
1996: Nelis E; Warner L E; Vriendt E D; Chance P F; Lupski J R; Van Broeckhoven C
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: Warner L E; Roa B B; Lupski J R
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: Roa B B; Warner L E; Garcia C A; Russo D; Lovelace R; Chance P F; Lupski J R
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.
Human mutation 1996;7(1):36-45.
1995: Anderson K L; Baird L; Lewis R A; Chinault A C; Otterud B; Leppert M; Lupski J R
A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p.
American journal of human genetics 1995;57(6):1351-63.
1995: Koeuth T; Versalovic J; Lupski J R
Differential subsequence conservation of interspersed repetitive Streptococcus pneumoniae BOX elements in diverse bacteria.
Genome research 1995;5(4):408-18.
1995: Juyal R C; Finucane B; Shaffer L G; Lupski J R; Greenberg F; Scott C I; Baldini A; Patel P I
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: Harvey B S; Koeuth T; Versalovic J; Woods C R; Lupski J R
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: Warner L E; Roa B B; Lupski J R
Settling the myelin protein zero question in CMT1B.
Nature genetics 1995;11(2):119-20.
1995: Juyal R C; Greenberg F; Mengden G A; Lupski J R; Trask B J; van den Engh G; Lindsay E A; Christy H; Chen K S; Baldini A
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: Go M F; Chan K Y; Versalovic J; Koeuth T; Graham D Y; Lupski J R
Cluster analysis of Helicobacter pylori genomic DNA fingerprints suggests gastroduodenal disease-specific associations.
Scandinavian journal of gastroenterology 1995;30(7):640-6.
1995: Britton R A; Lupski J R
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: Chen K S; Gunaratne P H; Hoheisel J D; Young I G; Miklos G L; Greenberg F; Shaffer L G; Campbell H D; Lupski J R
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: Versalovic J; Kapur V; Koeuth T; Mazurek G H; Whittam T S; Musser J M; Lupski J R
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: Georghiou P R; Hamill R J; Wright C E; Versalovic J; Koeuth T; Watson D A; Lupski J R
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.
1995: Levin M L; Shaffer L G; Lewis RAp6; Gresik M V; Lupski J R
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.
1994: Georghiou P R; Doggett A M; Kielhofner M A; Stout J E; Watson D A; Lupski J R; Hamill R J
Molecular fingerprinting of Legionella species by repetitive element PCR.
Journal of clinical microbiology 1994;32(12):2989-94.
1994: Metzger R; Brown D P; Grealish P; Staver M J; Versalovic J; Lupski J R; Katz L
Characterization of the macromolecular synthesis (MMS) operon from Listeria monocytogenes.
Gene 1994;151(1-2):161-6.
1994: Suter U; Snipes G J; Schoener-Scott R; Welcher A A; Pareek S; Lupski J R; Murphy R A; Shooter E M; Patel P I
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: Shapira S K; Anderson K L; Orr-Urtregar A; Craigen W J; Lupski J R; Shaffer L G
De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.
American journal of medical genetics 1994;52(1):44-50.
1994: Matise T C; Chakravarti A; Patel P I; Lupski J R; Nelis E; Timmerman V; Van Broeckhoven C; Weeks D E
Detection of tandem duplications and implications for linkage analysis.
American journal of human genetics 1994;54(6):1110-21.
1994: Leppert M; Baird L; Anderson K L; Otterud B; Lupski J R; Lewis R A
Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.
Nature genetics 1994;7(1):108-12.
1994: Patel P I; Lupski J R
Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.
Trends in genetics : TIG 1994;10(4):128-33.
1994: Chance P F; Abbas N; Lensch M W; Pentao L; Roa B B; Patel P I; Lupski J R
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: Roa B B; Lupski J R
Molecular genetics of Charcot-Marie-Tooth neuropathy.
Advances in human genetics 1994;22():117-52.
1993: Versalovic J; Lupski J R
The Haemophilus influenzae dnaG sequence and conserved bacterial primase motifs.
Gene 1993;136(1-2):281-6.
1993: Roa B B; Dyck P J; Marks H G; Chance P F; Lupski J R
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
Nature genetics 1993;5(3):269-73.
1993: Versalovic J; Woods C R; Georghiou P R; Hamill R J; Lupski J R
DNA-based identification and epidemiologic typing of bacterial pathogens.
Archives of pathology & laboratory medicine 1993;117(11):1088-98.
1993: Lupski J R; Chance P F; Garcia C A
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: Roa B B; Garcia C A; Pentao L; Killian J M; Trask B J; Suter U; Snipes G J; Ortiz-Lopez R; Shooter E M; Patel P I; Lupski J R
Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.
Nature genetics 1993;5(2):189-94.
1993: Wise C A; Garcia C A; Davis S N; Heju Z; Pentao L; Patel P I; Lupski J R
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: Roa B B; Lupski J R
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: Roa B B; Garcia C A; Suter U; Kulpa D A; Wise C A; Mueller J; Welcher A A; Snipes G J; Shooter E M; Patel P I; Lupski J R
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: Woods C R; Versalovic J; Koeuth T; Lupski J R
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: Versalovic J; Kapur V; Mason E O; Shah U; Koeuth T; Lupski J R; Musser J M
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: Versalovic J; Koeuth T; Britton R; Geszvain K; Lupski J R
Conservation and evolution of the rpsU-dnaG-rpoD macromolecular synthesis operon in bacteria.
Molecular microbiology 1993;8(2):343-55.
1993: Lupski J R; Pentao L; Williams L L; Patel P I
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: Roa B B; Garcia C A; Wise C A; Anderson K; Greenberg F; Patel P I; Lupski J R
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: Lupski J R
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: Pentao L; Wise C A; Chinault A C; Patel P I; Lupski J R
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: Woods C R; Versalovic J; Koeuth T; Lupski J R
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: Lupski J R; Garcia C A
Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.
Brain pathology (Zurich, Switzerland) 1992;2(4):337-49.
1992: Guzzetta V; Franco B; Trask B J; Zhang H; Saucedo-Cardenas O; Montes de Oca-Luna R; Greenberg F; Chinault A C; Lupski J R; Patel P I
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: Lupski J R; Weinstock G M
Short, interspersed repetitive DNA sequences in prokaryotic genomes.
Journal of bacteriology 1992;174(14):4525-9.
1992: Patel P I; Roa B B; Welcher A A; Schoener-Scott R; Trask B J; Pentao L; Snipes G J; Garcia C A; Francke U; Shooter E M; Lupski J R; Suter U
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: Pentao L; Lewis R A; Ledbetter D H; Patel P I; Lupski J R
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.
American journal of human genetics 1992;50(4):690-9.
1992: Lupski J R; Wise C A; Kuwano A; Pentao L; Parke J T; Glaze D G; Ledbetter D H; Greenberg F; Patel P I
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.
Nature genetics 1992;1(1):29-33.
1992: Subramanian P S; Versalovic J; McCabe E R; Lupski J R
Rapid mapping of Escherichia coli::Tn5 insertion mutations by REP-Tn5 PCR.
PCR methods and applications 1992;1(3):187-92.
1991: Versalovic J; Koeuth T; Lupski J R
Distribution of repetitive DNA sequences in eubacteria and application to fingerprinting of bacterial genomes.
Nucleic acids research 1991;19(24):6823-31.
1991: Greenberg F; Guzzetta V; Montes de Oca-Luna R; Magenis R E; Smith A C; Richter S F; Kondo I; Dobyns W B; Patel P I; Lupski J R
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: Hoffman E P; Garcia C A; Chamberlain J S; Angelini C; Lupski J R; Fenwick R
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: Versalovic J; Koeuth T; McCabe E R; Lupski J R
Use of the polymerase chain reaction for physical mapping of Escherichia coli genes.
Journal of bacteriology 1991;173(17):5253-5.
1991: Lupski J R; Garcia C A; Zoghbi H Y; Hoffman E P; Fenwick R G
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: Lupski J R; Langston C; Friedman R; Ledbetter D H; Greenberg F
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: Franco B; Lai L W; Patterson D; Ledbetter D H; Trask B J; van den Engh G; Iannaccone S; Frances S; Patel P I; Lupski J R
Molecular characterization of a patient with del(1)(q23-q25).
Human genetics 1991;87(3):269-77.
1991: Lupski J R; de Oca-Luna R M; Slaugenhaupt S; Pentao L; Guzzetta V; Trask B J; Saucedo-Cardenas O; Barker D F; Killian J M; Garcia C A; Chakravarti A; Patel P I
DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
Cell 1991;66(2):219-32.
1991: Grompe M; Versalovic J; Koeuth T; Lupski J R
Mutations in the Escherichia coli dnaG gene suggest coupling between DNA replication and chromosome partitioning.
Journal of bacteriology 1991;173(3):1268-78.
1991: Guzzetta V; Montes de Oca-Luna R; Lupski J R; Patel P I
Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction.
Genomics 1991;9(1):31-6.
1991: Roa B B; Garcia C A; Lupski J R
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.
1990: Patel P I; Garcia C; Montes de Oca-Luna R; Malamut R I; Franco B; Slaugenhaupt S; Chakravarti A; Lupski J R
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: Franco B; Rincon-Limas D; Nakamura Y; Patel P I; Lupski J R
Two MspI RFLPs at the D17S258 locus.
Nucleic acids research 1990;18(23):7196.
1990: Lupski J R; Zhang Y H; Rieger M; Minter M; Hsu B; Ooi B G; Koeuth T; McCabe E R
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: Ray R; Rincon-Limas D; Wright R A; Davis S N; Lupski J R; Patel P I
Three polymorphisms at the D17S29 locus.
Nucleic acids research 1990;18(16):4958.
1990: Patel P I; Franco B; Garcia C; Slaugenhaupt S A; Nakamura Y; Ledbetter D H; Chakravarti A; Lupski J R
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: Patel P I; Ledbetter D H; Frances S; Franco B; Wallace M R; Collins F S; Lupski J R
Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251]
Nucleic acids research 1990;18(4):1087.
1988: Lupski J R; Feigin R D
Molecular evolution of pathogenic Escherichia coli.
The Journal of infectious diseases 1988;157(6):1120-3.

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