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Stephen Scherer

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Chromosomes, Human, Pair 7

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Alessia Dolcetti; Anath C Lionel; Christian R Marshall; Stephen W Scherer; Candice K Silversides; Dimitri J Stavropoulos; Anne S Bassett
1q21.1 Microduplication expression in adults.
Gregory Ryan Handrigan; Jennelle C Hodge; Anath C Lionel; Christian R Marshall; Maury Pinsk; Riyana Babul-Hirji; Jason E Cain; David Chitayat; Sarah Dyack; Luis F Escobar; Bridget A Fernandez; McKinsey Goodenberger; Jill A Rosenfeld; Stephen W Scherer; Lisa G Shaffer; Dimitri J Stavropoulos; Joseph C Stegman; Andrea K Vaags; Verna Yiu; Norman D Rosenblum
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Magan Trottier; Rosanna Weksberg; Wendy Roberts; Stephen W Scherer; Cheryl Shuman; David Chitayat; Cheryl S Cytrynbaum; Irene Drmic; Fiona A Miller
Parents' perspectives on participating in genetic research in autism.

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All Publications

2013: Alessia Dolcetti; Anath C Lionel; Christian R Marshall; Stephen W Scherer; Candice K Silversides; Dimitri J Stavropoulos; Anne S Bassett
1q21.1 Microduplication expression in adults.
Genetics in medicine : official journal of the American College of Medical Genetics 2013;15(4):282-9.
2013: Gregory Ryan Handrigan; Jennelle C Hodge; Anath C Lionel; Christian R Marshall; Maury Pinsk; Riyana Babul-Hirji; Jason E Cain; David Chitayat; Sarah Dyack; Luis F Escobar; Bridget A Fernandez; McKinsey Goodenberger; Jill A Rosenfeld; Stephen W Scherer; Lisa G Shaffer; Dimitri J Stavropoulos; Joseph C Stegman; Andrea K Vaags; Verna Yiu; Norman D Rosenblum
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Journal of medical genetics 2013;50(3):163-73.
2013: Magan Trottier; Rosanna Weksberg; Wendy Roberts; Stephen W Scherer; Cheryl Shuman; David Chitayat; Cheryl S Cytrynbaum; Irene Drmic; Fiona A Miller
Parents' perspectives on participating in genetic research in autism.
Journal of autism and developmental disorders 2013;43(3):556-68.
2013: Andy Wing Chun Pang; Lars Feuk; Jeffrey R Macdonald; Ohsuke Migita; Stephen W Scherer
Mechanisms of formation of structural variation in a fully sequenced human genome.
Human mutation 2013;34(2):345-54.
2013: Daria Grafodatskaya; Jill Hamilton; Youliang Lou; Rageen Rajendram; Stephen W Scherer; Charles E Schwartz; Cindy Skinner; James Stavropoulos; Andrei L Turinsky; Fatima E Abidi; Carolyn A Bondy; Darci T Butcher; Yi-An Chen; Sanaa Choufani; Barian H Y Chung; Sarah J Goodman; Shoshana Wodak; Chunhua Zhao; Rosanna Weksberg
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.
BMC medical genomics 2013;6():1.
2012: Aparna Prasad; Jessica Rickaby; Wendy Roberts; Daisuke Sato; Peggy S Eis; Bridget A Fernandez; Eli Hatchwell; Anath C Lionel; Chao Lu; Christian R Marshall; Daniele Merico; Peter Szatmari; Bhooma Thiruvahindrapuram; John Wei; Stephen W Scherer
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
G3 (Bethesda, Md.) 2012;2(12):1665-85.
2012: Carl Ernst; Michael T Geraghty; James F Gusella; David J Harris; Jennelle C Hodge; Emanuelle Lemyre; Christian R Marshall; Kay Metcalfe; Cynthia C Morton; Shahrin Pereira; Vamsee Pillalamarri; Shaun Purcell; Bradley F Quade; Jill Rosenfeld; Douglas Ruderfer; Stephen W Scherer; Lisa G Shaffer; Yiping Shen; Pamela Sklar; Anne C Spencer; Dimitri J Stavropoulos; Ian Blumenthal; Colby Chiang; Liam Crapper; Alpha B Diallo; Alcy Torres; Robert S Wildin; Bai-Lin Wu; Michael E Talkowski
Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity.
Archives of general psychiatry 2012;69(12):1238-46.
2012: Julie Turnbull; Atul Tyagi; Peixiang Wang; XiaoChu Zhao; Salah Omer; Nela Pencea; Stephen W Scherer; Erica Tiberia; Cameron Ackerley; Mushtaq Ahmed; Christopher Bennett; Aruna Chakrabarty; Elayne M Chan; Jean-Marie Girard; Yan Liu; Hannes Lohi; Berge A Minassian
Early-onset Lafora body disease.
Brain : a journal of neurology 2012;135(Pt 9):2684-98.
2012: Danielle M Andrade; Christian R Marshall; Tara Paton; Stephen W Scherer; Julie Turnbull; Berge A Minassian
Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy.
Pediatric neurology 2012;47(3):205-8.
2012: Wigdan Al-Sukhni; Melissa Bondy; Ayelet Borgida; Aaron Gropper; Spring Holter; Sarah Joe; Alison P Klein; Anath C Lionel; Christian R Marshall; Sara Moore; Gloria M Petersen; Kari G Rabe; Stephen W Scherer; Ann Grossbart Schwartz; Sapna Syngal; George Zogopoulos; Nora Zwingerman; Steven Gallinger
Identification of germline genomic copy number variation in familial pancreatic cancer.
Human genetics 2012;131(9):1481-94.
2012: Adrian M Dubuc; Charles G Eberhart; Pim J French; Wieslawa Grajkowska; Nanne K Kloosterhof; Marco A Marra; A Sorana Morrissy; Paul A Northcott; John Peacock; Stefan Pfister; James T Rutka; Stephen W Scherer; David Shih; Timothy E van Meter; William A Weiss; Emily P Y Yu; Michael D Taylor
Subgroup-specific alternative splicing in medulloblastoma.
Acta neuropathologica 2012;123(4):485-99.
2012: Brian H Y Chung; Lucie Dupuis; Sarah H Elsea; Chumei Li; Anath C Lionel; Christian R Marshall; Sureni Mullegama; Stephen W Scherer; D James Stavropoulos; Rosanna Weksberg; Swaroop Aradhya; Lauren Brick; Roberto Mendoza-Londono
Severe intellectual disability and autistic features associated with microduplication 2q23.1.
European journal of human genetics : EJHG 2012;20(4):398-403.
2012: Andrea K Vaags; Susan Walker; Lonnie Zwaigenbaum; Lili Senman; Dimitri J Stavropoulos; Quinn P Stein; Peter Szatmari; Ann Thompson; Joo Wook Ahn; Patrick F Bolton; Christina Chrysler; David A Collier; Sarah Curran; Irene Drmic; Bridget A Fernandez; Eric Fombonne; McKinsey Goodenberger; Jennelle C Hodge; Anath C Lionel; Christian R Marshall; Caroline Ogilvie; Dalila Pinto; Aparna Prasad; Wendy Roberts; Carolyn Russell; Daisuke Sato; Stephen W Scherer
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
American journal of human genetics 2012;90(1):133-41.
2012: Bridget A Fernandez; Sara Fernandez; Jane S Green; Andrée MacMillan; Krista Mahoney; Sarah McColl; Sergio L Pereira; Proton Rahman; Stephen W Scherer; Michael O Woods; Brendan Barrett; Kym M Boycott; Ford Bursey
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.
BMC medical genetics 2012;13():111.
2011: M T Carter; C Fairbrother-Davies; Bridget A Fernandez; Ann M Joseph-George; A C Lionel; C R Marshall; S M Nikkel; C Noakes; A Noor; D Pinto; A Prasad; Wendy Roberts; J Vincent; Rosanna Weksberg; Stephen W Scherer
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.
Clinical genetics 2011;80(5):435-43.
2011: Brian H Y Chung; Irene Drmic; Bridget A Fernandez; Daria Grafodatskaya; Christian R Marshall; Wendy Roberts; Melissa Carter; Rosanna Weksberg; Stephen W Scherer
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
European journal of medical genetics 2011;54(5):e516-20.
2011: Anath C Lionel; Christian R Marshall; Ruth McPherson; Jessica Rickaby; Robert Roberts; Wendy Roberts; Russell Schachar; Paul D Arnold; Nicole Barbosa; Andrew R Carson; Jennifer Crosbie; Bridget A Fernandez; Andreas Fiebig; Andre Franke; Matthew Gazzellone; Tara Goodale; Jennifer L Howe; Stefan Schreiber; Alexandre Stewart; Peter Szatmari; Bhooma Thiruvahindrapuram; Zhuozhi Wang; John Wei; Lonnie Zwaigenbaum; Stephen W Scherer
Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.
Science translational medicine 2011;3(95):95ra75.
2011: Stephen W Scherer; Geraldine Dawson
Risk factors for autism: translating genomic discoveries into diagnostics.
Human genetics 2011;130(1):123-48.
2011: Dalila Pinto; Aparna Prasad; Elena Prigmore; Diana Rajan; Diane Rigler; Stephen W Scherer; Xinghua Shi; Richard S Smith; Bhooma Thiruvahindrapuram; Tom Fitzgerald; Susan Gribble; Matthew E Hurles; Charles Lee; Anath C Lionel; Jeffrey R MacDonald; Ryan Mills; Kristin Noonan; Ji Hyeon Park; Nigel P Carter; Katayoon Darvishi; Patricia K Donahoe; Lars Feuk
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.
Nature biotechnology 2011;29(6):512-20.
2011: Ann M Joseph-George; Yongshu He; Christian R Marshall; Raymond C C Wong; Jeffrey R MacDonald; Ciara A Fahey; David Chitayat; Kathy Chun; Greg Ryan; Anne M Summers; Elizabeth J T Winsor; Stephen W Scherer
Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions.
Journal of medical genetics 2011;48(5):317-22.
2011: Richard F Wintle; Anath C Lionel; Pingzhao Hu; Stephen D Ginsberg; Dalila Pinto; Bhooma Thiruvahindrapduram; John Wei; Christian R Marshall; Jane Pickett; Edwin H Cook; Stephen W Scherer
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Autism research : official journal of the International Society for Autism Research 2011;4(2):89-97.
2011: Mohammad M Ghahramani Seno; Pingzhao Hu; Fuad G Gwadry; Dalila Pinto; Christian R Marshall; Guillermo Casallo; Stephen W Scherer
Gene and miRNA expression profiles in autism spectrum disorders.
Brain research 2011;1380():85-97.
2011: Sanaa Choufani; Jonathan S Shapiro; Martha Susiarjo; Darci T Butcher; Daria Grafodatskaya; Youliang Lou; Jose Carlos Ferreira; Dalila Pinto; Stephen W Scherer; Lisa G Shaffer; Philippe Coullin; Isabella Caniggia; Joseph Beyene; Rima Slim; Marisa S Bartolomei; Rosanna Weksberg
A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes.
Genome research 2011;21(3):465-76.
2011: Brian H Y Chung; James Stavropoulos; Christian R Marshall; Rosanna Weksberg; Stephen W Scherer; Grace Yoon
2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.
American journal of medical genetics. Part A 2011;155A(2):424-9.
2011: Mohammad M Ghahramani Seno; Benjamin Y M Kwan; Ka Ki M Lee-Ng; Rainald Moessner; Anath C Lionel; Christian R Marshall; Stephen W Scherer
Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene.
BMC medical genetics 2011;12():45.
2010: M A Rafiq; M Ansar; C R Marshall; A Noor; N Shaheen; Alireza Mowjoodi; M A Khan; G Ali; M Amin-ud-Din; Lars Feuk; John B Vincent; Stephen W Scherer
Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan.
Clinical genetics 2010;78(5):478-83.
2010: Hansoo Park; Jong-Il Kim; Young Seok Ju; Omer Gokcumen; Ryan Mills; Sheehyun Kim; Seungbok Lee; Dongwhan Suh; Dongwan Hong; Hyunseok Peter Kang; Yun Joo Yoo; Jong-Yeon Shin; Hyun-Jin Kim; Maryam Yavartanoo; Young Wha Chang; Jung-Sook Ha; Wilson Chong; Ga-Ram Hwang; Katayoon Darvishi; Hyungtae Kim; Song Ju Yang; Kap-Seok Yang; Hyungtae Kim; Matthew E Hurles; Stephen W Scherer; Nigel P Carter; Chris Tyler-Smith; Charles Lee; Jeong-Sun Seo
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing.
Nature genetics 2010;42(5):400-5.
2010: Donald F Conrad; Dalila Pinto; Richard Redon; Lars Feuk; Omer Gokcumen; Yujun Zhang; Jan Aerts; T Daniel Andrews; Chris Barnes; Peter Campbell; Tomas Fitzgerald; Min Hu; Chun Hwa Ihm; Kati Kristiansson; Daniel G Macarthur; Jeffrey R MacDonald; Ifejinelo Onyiah; Andy Wing Chun Pang; Sam Robson; Kathy Stirrups; Armand Valsesia; Klaudia Walter; John Wei; Chris Tyler-Smith; Nigel P Carter; Charles Lee; Stephen W Scherer; Matthew E Hurles
Origins and functional impact of copy number variation in the human genome.
Nature 2010;464(7289):704-12.
2010: Bridget A Fernandez; Wendy Roberts; Brian Chung; Rosanna Weksberg; M Stephen Meyn; Peter Szatmari; Ann M Joseph-George; Sara Mackay; Kathy Whitten; Barbara Noble; Cathy Vardy; Victoria Crosbie; Sandra Luscombe; Eva Tucker; Lesley Turner; Christian R Marshall; Stephen W Scherer
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.
Journal of medical genetics 2010;47(3):195-203.
2010: Daria Grafodatskaya; S Choufani; Jose Carlos Ferreira; D T Butcher; Y Lou; C Zhao; Stephen W Scherer; Rosanna Weksberg
EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines.
Genomics 2010;95(2):73-83.
2010: Andy W Pang; Jeffrey R MacDonald; Dalila Pinto; John Wei; Muhammad A Rafiq; Donald F Conrad; Hansoo Park; Matthew E Hurles; Charles Lee; J Craig Venter; Ewen F Kirkness; Samuel Levy; Lars Feuk; Stephen W Scherer
Towards a comprehensive structural variation map of an individual human genome.
Genome biology 2010;11(5):R52.
2010: Charles Lee; Stephen W Scherer
The clinical context of copy number variation in the human genome.
Expert reviews in molecular medicine 2010;12():e8.
2009: Shin-ichi Horike; Jose Carlos Ferreira; Makiko Meguro-Horike; Sanaa Choufani; Adam C Smith; Cheryl Shuman; Wendy Meschino; David Chitayat; Elaine Zackai; Stephen W Scherer; Rosanna Weksberg
Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome.
American journal of medical genetics. Part A 2009;149A(11):2415-23.
2009: Lee M Fidler; Gregory J Wilson; Fanfan Liu; Xuezhi Cui; Stephen W Scherer; Glenn P Taylor; Robert M Hamilton
Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations.
Journal of cellular and molecular medicine 2009;13(10):4219-28.
2009: John B Vincent; Abdul Noor; Christian Windpassinger; Peter J Gianakopoulos; Thomas Schwarzbraun; Simon E Alfred; Beata Stachowiak; Stephen W Scherer; Wendy Roberts; Klaus Wagner; Peter M Kroisel; Erwin Petek
Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(6):817-26.
2009: Andrew R Carson; Stephen W Scherer
Identifying concerted evolution and gene conversion in mammalian gene pairs lasting over 100 million years.
BMC evolutionary biology 2009;9():156.
2009: Timothy Caulfield; Stephanie M Fullerton; Sarah E Ali-Khan; Laura Arbour; Esteban G Burchard; Richard S Cooper; Billie-Jo Hardy; Simrat Harry; Robyn Hyde-Lay; Jonathan Kahn; Rick Kittles; Barbara A Koenig; Sandra Sj Lee; Michael Malinowski; Vardit Ravitsky; Pamela Sankar; Stephen W Scherer; Béatrice Séguin; Darren Shickle; Guilherme Suarez-Kurtz; Abdallah S Daar
Race and ancestry in biomedical research: exploring the challenges.
Genome medicine 2009;1(1):8.
2009: Janet A Buchanan; Andrew R Carson; David Chitayat; David Malkin; M Stephen Meyn; Peter N Ray; Cheryl Shuman; Rosanna Weksberg; Stephen W Scherer
The cycle of genome-directed medicine.
Genome medicine 2009;1(2):16.
2008: Layla Parker-Katiraee; Eleni Bousiaki; David Monk; Gudrun E Moore; Kazuhiko Nakabayashi; Stephen W Scherer
Dynamic variation in allele-specific gene expression of Paraoxonase-1 in murine and human tissues.
Human molecular genetics 2008;17(21):3263-70.
2008: Janet A Buchanan; Stephen W Scherer
Contemplating effects of genomic structural variation.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(9):639-47.
2008: Adam Shlien; Uri Tabori; Christian R Marshall; Malgorzata Pienkowska; Lars Feuk; Ana Novokmet; Sonia Nanda; Harriet Druker; Stephen W Scherer; David Malkin
Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(32):11264-9.
2008: David Monk; Alexandre Wagschal; philippe arnaud; Pari-Sima Müller; Layla Parker-Katiraee; Déborah Bourc'his; Stephen W Scherer; Robert Feil; Philip Stanier; Gudrun E Moore
Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing.
Genome research 2008;18(8):1270-81.
2008: Elaine Tam; Edwin J Young; Colleen A Morris; Christian R Marshall; Wayne Loo; Stephen W Scherer; Carolyn Beth Mervis; Lucy Osborne
The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.
American journal of medical genetics. Part A 2008;146A(14):1797-806.
2008: John B Vincent; Sanaa Choufani; Shin-ichi Horike; Beata Stachowiak; Martin Li; Fred J Dill; Christian Marshall; Monica Hrynchak; Elizabeth Pewsey; Kennedy C Ukadike; Jan M Friedman; Anand K Srivastava; Stephen W Scherer
A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints.
Psychiatric genetics 2008;18(3):101-9.
2008: Xavier Estivill; Nancy J Cox; STEPHEN CHANOCK; Pui-Yan Kwok; Stephen W Scherer; Anthony J Brookes
SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report.
PLoS genetics 2008;4(4):e1000068.
2008: Sharan Goobie; J Knijnenburg; D Fitzpatrick; F H Sharkey; A C Lionel; C R Marshall; T Azam; Mary Shago; K Chong; Roberto Mendoza-Londono; N S den Hollander; C Ruivenkamp; E Maher; H J Tanke; Karoly Szuhai; R F Wintle; Stephen W Scherer
Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.
Cytogenetic and genome research 2008;123(1-4):65-78.
2008: Kohji Okamura; Richard F Wintle; Stephen W Scherer
Characterization of the differentially methylated region of the Impact gene that exhibits Glires-specific imprinting.
Genome biology 2008;9(11):R160.
2007: Rainald Moessner; Christian R Marshall; James S Sutcliffe; Jennifer Skaug; Dalila Pinto; John Vincent; Lonnie Zwaigenbaum; Bridget Fernandez; Wendy Roberts; Peter Szatmari; Stephen W Scherer
Contribution of SHANK3 mutations to autism spectrum disorder.
American journal of human genetics 2007;81(6):1289-97.
2007: Dalila Pinto; Christian Marshall; Lars Feuk; Stephen W Scherer
Copy-number variation in control population cohorts.
Human molecular genetics 2007;16 Spec No. 2():R168-73.
2007: Albert K Mensah; Vincenzo De Luca; Beata Stachowiak; Abdul Noor; Christian Windpassinger; Stephen T S Lam; James L Kennedy; Stephen W Scherer; Ivan F M Lo; John B Vincent
Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong.
Schizophrenia research 2007;95(1-3):228-35.
2007: Stephen W Scherer; Charles Lee; Ewan Birney; David M Altshuler; Evan E Eichler; Nigel P Carter; Matthew E Hurles; Lars Feuk
Challenges and standards in integrating surveys of structural variation.
Nature genetics 2007;39(7 Suppl):S7-15.
2007: Layla Parker-Katiraee; Andrew R Carson; Takahiro Yamada; philippe arnaud; Robert Feil; Sayeda N Abu-Amero; Gudrun E Moore; Masahiro Kaneda; George H Perry; Anne C Stone; Charles Lee; Makiko Meguro-Horike; Hiroyuki Sasaki; Keiko Kobayashi; Kazuhiko Nakabayashi; Stephen W Scherer
Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution.
PLoS genetics 2007;3(5):e65.
2007: Chris G Harvey; Sailesh D Menon; Beata Stachowiak; Abdul Noor; Adam Proctor; Albert K Mensah; Gevork N Mnatzakanian; Simon E Alfred; Ray Guo; Stephen W Scherer; James L Kennedy; Wendy Roberts; Anand K Srivastava; Anand K Srivistava; Berge A Minassian; John B Vincent
Sequence variants within exon 1 of MECP2 occur in females with mental retardation.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007;144B(3):355-60.
2007: Dorota A Kwasnicka-Crawford; Wendy Roberts; Stephen W Scherer
Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.
Journal of autism and developmental disorders 2007;37(4):694-702.
2007: Barbara E Stranger; Matthew Forrest; Mark Dunning; Catherine E Ingle; Claude Beazley; Natalie P Thorne; Richard Redon; Christine P Bird; Anna De Grassi; Charles Lee; Chris Tyler-Smith; Nigel Carter; Stephen W Scherer; Simon Tavaré; Panos Deloukas; Matthew E Hurles; Emmanouil T Dermitzakis
Relative impact of nucleotide and copy number variation on gene expression phenotypes.
Science (New York, N.Y.) 2007;315(5813):848-53.
2007: Kohji Okamura; John Wei; Stephen W Scherer
Evolutionary implications of inversions that have caused intra-strand parity in DNA.
BMC genomics 2007;8():160.
2007: Catherine F Li; Jeffrey R MacDonald; Robert Y Wei; Jocelyn Ray; Kimberly Lau; Christopher Kandel; Rachel Koffman; Sherilyn Bell; Stephen W Scherer; Benjamin A Alman
Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse.
BMC genomics 2007;8():92.
2007: Erwin Petek; Thomas Schwarzbraun; Abdul Noor; Megha Patel; Kazuhiko Nakabayashi; Sanaa Choufani; Christian Windpassinger; Mara Stamenkovic; Mary M Robertson; Harald N Aschauer; Hugh M D Gurling; Peter M Kroisel; Klaus Wagner; Stephen W Scherer; John B Vincent
Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.
Molecular genetics and genomics : MGG 2007;277(1):71-81.
2006: Heike Fiegler; Richard Redon; Dan Andrews; Carol Scott; Robert Andrews; Carol Carder; Richard Clark; Oliver M Dovey; Peter Ellis; Lars Feuk; Lisa French; Paul Hunt; Dimitrios Kalaitzopoulos; James R Larkin; Lyndal Montgomery; George H Perry; Bob Plumb; Keith Michael Porter; Rachel E Rigby; Diane Rigler; Armand Valsesia; Cordelia Langford; Sean Humphray; Stephen W Scherer; Charles Lee; Matthew E Hurles; Nigel P Carter
Accurate and reliable high-throughput detection of copy number variation in the human genome.
Genome research 2006;16(12):1566-74.
2006: Daisuke Komura; Fan Shen; Shumpei Ishikawa; Karen R Fitch; Wenwei Chen; Jane Zhang; Guoying Liu; Sayoko Ihara; Hiroshi Nakamura; Matthew E Hurles; Charles Lee; Stephen W Scherer; Keith W Jones; Michael H Shapero; Jing Huang; Hiroyuki Aburatani
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays.
Genome research 2006;16(12):1575-84.
2006: Razi Khaja; Junjun Zhang; Jeffrey R MacDonald; Yongshu He; Ann M Joseph-George; John Wei; Muhammad A Rafiq; Cheng Qian; Mary Shago; Lorena Pantano; Hiroyuki Aburatani; Keith Jones; Richard Redon; Matthew E Hurles; Lluis Armengol; Xavier Estivill; Richard J Mural; Charles Lee; Stephen W Scherer; Lars Feuk
Genome assembly comparison identifies structural variants in the human genome.
Nature genetics 2006;38(12):1413-8.
2006: Dorota A Kwaśnicka-Crawford; Andrew R Carson; Stephen W Scherer
IQCJ-SCHIP1, a novel fusion transcript encoding a calmodulin-binding IQ motif protein.
Biochemical and biophysical research communications 2006;350(4):890-9.
2006: Kohji Okamura; Lars Feuk; Tomàs Marquès-Bonet; Arcadi Navarro; Stephen W Scherer
Frequent appearance of novel protein-coding sequences by frameshift translation.
Genomics 2006;88(6):690-7.
2006: Michael D Wilson; Joseph Cheung; Duane W Martindale; Stephen W Scherer; Ben F Koop
Comparative analysis of the paired immunoglobulin-like receptor (PILR) locus in six mammalian genomes: duplication, conversion, and the birth of new genes.
Physiological genomics 2006;27(3):201-18.
2006: Lars Feuk; Aino Kalervo; Marita Lipsanen-Nyman; Jennifer Skaug; Kazuhiko Nakabayashi; Brenda Finucane; Danielle Hartung; Micheil Innes; Batsheva Kerem; Malgorzata J M Nowaczyk; Joseph Rivlin; Wendy Roberts; Lili Senman; Anne Summers; Peter Szatmari; Virginia Wong; John B Vincent; Susan Zeesman; Lucy Osborne; Janis Oram Cardy; Juha Kere; Stephen W Scherer; Katariina Hannula-Jouppi
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.
American journal of human genetics 2006;79(5):965-72.
2006: Danielle M Andrade; Stephen W Scherer; Berge A Minassian
Protein therapy for Unverricht-Lundborg disease using cystatin B transduction by TAT-PTD. Is it that simple?
Epilepsy research 2006;72(1):75-9.
2006: Jennifer L Freeman; George H Perry; Lars Feuk; Richard Redon; Steven A McCarroll; David Altshuler; Hiroyuki Aburatani; Keith W Jones; Chris Tyler-Smith; Matthew E Hurles; Nigel P Carter; Stephen W Scherer; Charles Lee
Copy number variation: new insights in genome diversity.
Genome research 2006;16(8):949-61.
2006: Thomas Schwarzbraun; Christian Windpassinger; Lisa Ofner; John B Vincent; Joseph Cheung; Stephen W Scherer; Klaus Wagner; Peter M Kroisel; Erwin Petek
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).
European journal of medical genetics 2006;49(4):338-45.
2006: Andrew R Carson; Lars Feuk; Mansoor Mohammed; Stephen W Scherer
Strategies for the detection of copy number and other structural variants in the human genome.
Human genomics 2006;2(6):403-14.
2006: George H Perry; Joëlle Tchinda; Sean D McGrath; Junjun Zhang; Simon R Picker; Angela M Cáceres; A John Iafrate; Chris Tyler-Smith; Stephen W Scherer; Evan E Eichler; Anne C Stone; Charles Lee
Hotspots for copy number variation in chimpanzees and humans.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(21):8006-11.
2006: John B Vincent; Shin-ichi Horike; Sanaa Choufani; Andrew D Paterson; Wendy Roberts; P Szatmari; Rosanna Weksberg; B Fernandez; Stephen W Scherer
An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster.
Journal of medical genetics 2006;43(5):429-34.
2006: Lars Feuk; Christian R Marshall; Richard F Wintle; Stephen W Scherer
Structural variants: changing the landscape of chromosomes and design of disease studies.
Human molecular genetics 2006;15 Spec No 1():R57-66.
2006: Susan Zeesman; Malgorzata J M Nowaczyk; Ikuko Teshima; Wendy Roberts; Janis Oram Cardy; Jessica Brian; Lili Senman; Lars Feuk; Lucy Osborne; Stephen W Scherer
Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2.
American journal of medical genetics. Part A 2006;140(5):509-14.
2006: Lars Feuk; Andrew R Carson; Stephen W Scherer
Structural variation in the human genome.
Nature reviews. Genetics 2006;7(2):85-97.
2006: Junjun Zhang; Lars Feuk; G E Duggan; Razi Khaja; Stephen W Scherer
Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome.
Cytogenetic and genome research 2006;115(3-4):205-14.
2006: Lucy Osborne; Ann M Joseph-George; Stephen W Scherer
Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization.
Methods in molecular medicine 2006;126():113-28.
2006: Razi Khaja; Jeffrey R MacDonald; Junjun Zhang; Stephen W Scherer
Methods for identifying and mapping recent segmental and gene duplications in eukaryotic genomes.
Methods in molecular biology (Clifton, N.J.) 2006;338():9-20.
2006: Andrew R Carson; Joseph Cheung; Stephen W Scherer
Duplication and relocation of the functional DPY19L2 gene within low copy repeats.
BMC genomics 2006;7():45.
2006: Hannes Lohi; Elayne M Chan; Stephen W Scherer; Berge A Minassian
On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies.
Advances in neurology 2006;97():399-415.
2006: Maria-Mercè Garcia-Barceló; Man-ting So; Danny Ko-chun Lau; Thomas Yuk-yu Leon; Zheng-Wei Yuan; Wei-Song Cai; Vincent C H Lui; Ming Fu; Jo-Anne Herbrick; Emily Gutter; Virginia Proud; Long Li; Jacqueline Pierre-Louis; Kirk Aleck; Ernest van Heurn; Elena Belloni; Stephen W Scherer; Paul K H Tam
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome.
Clinical chemistry 2006;52(1):46-52.
2005: Lluis Armengol; Tomàs Marquès-Bonet; Joseph Cheung; Razi Khaja; Juan R González; Stephen W Scherer; Arcadi Navarro; Xavier Estivill
Murine segmental duplications are hot spots for chromosome and gene evolution.
Genomics 2005;86(6):692-700.
2005: Martin J Somerville; Carolyn Beth Mervis; Edwin J Young; Eul-Ju Seo; Miguel del Campo; Steven Bamforth; Ella Peregrine; Wayne Loo; Margaret Lilley; Luis A Pérez Jurado; Colleen A Morris; Stephen W Scherer; Lucy Osborne
Severe expressive-language delay related to duplication of the Williams-Beuren locus.
The New England journal of medicine 2005;353(16):1694-701.
2005: Lars Feuk; Jeffrey R MacDonald; Terence Tang; Andrew R Carson; Martin Li; Girish Rao; Razi Khaja; Stephen W Scherer
Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.
PLoS genetics 2005;1(4):e56.
2005: Bridget A Fernandez; J Siegel-Bartelt; Jo-Anne Herbrick; Ikuko Teshima; Stephen W Scherer
Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature.
Clinical genetics 2005;68(4):349-59.
2005: Leonarda Ianzano; Junjun Zhang; Elayne M Chan; Xiao-Chu Zhao; Hannes Lohi; Stephen W Scherer; Berge A Minassian
Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes.
Human mutation 2005;26(4):397.
2005: Hannes Lohi; Leonarda Ianzano; Xiao-Chu Zhao; Elayne M Chan; Julie Turnbull; Stephen W Scherer; Cameron Ackerley; Berge A Minassian
Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy.
Human molecular genetics 2005;14(18):2727-36.
2005: Stephen W Scherer; Karen W Gripp; Jaume Lucena; Linda Nicholson; Jean-Paul Bonnefont; Luis A Pérez Jurado; Lucy Osborne
Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.
Human genetics 2005;117(4):383-8.
2005: Dorota A Kwasnicka-Crawford; Andrew R Carson; Wendy Roberts; Anne M Summers; Karola Rehnström; Irma Järvelä; Stephen W Scherer
Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.
Genomics 2005;86(2):182-94.
2005: Takahiro Yamada; Andrew R Carson; Isabella Caniggia; Kyohei Umebayashi; Tamotsu Yoshimori; Kazuhiko Nakabayashi; Stephen W Scherer
Endothelial nitric-oxide synthase antisense (NOS3AS) gene encodes an autophagy-related protein (APG9-like2) highly expressed in trophoblast.
The Journal of biological chemistry 2005;280(18):18283-90.
2005: Kolja Eppert; Jay S Wunder; Vicky Aneliunas; Lap-Chee Tsui; Stephen W Scherer; Irene L Andrulis
Altered expression and deletion of RMO1 in osteosarcoma.
International journal of cancer. Journal international du cancer 2005;114(5):738-46.
2005: Andrew P Boright; Andrew D Paterson; Lucia Mirea; Shelley B Bull; Alireza Mowjoodi; Stephen W Scherer; Bernard Zinman
Genetic variation at the ACE gene is associated with persistent microalbuminuria and severe nephropathy in type 1 diabetes: the DCCT/EDIC Genetics Study.
Diabetes 2005;54(4):1238-44.
2005: Kazuhiko Nakabayashi; Daniela Amann; Yan Ren; Ulpu Saarialho-Kere; Nili Avidan; Simone Gentles; Jeffrey R MacDonald; Erik G Puffenberger; Angela M Christiano; Amalia Martinez-Mir; Julio C Salas-Alanis; Renata Rizzo; Esther Vamos; Anja Raams; Clifford M Les; Eric Seboun; Nicolaas G J Jaspers; Jacques Beckmann; Charles E Jackson; Stephen W Scherer
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
American journal of human genetics 2005;76(3):510-6.
2005: Hannes Lohi; Edwin J Young; Susan N Fitzmaurice; Clare Rusbridge; Elayne M Chan; Mike Vervoort; Julie Turnbull; Xiao-Chu Zhao; Leonarda Ianzano; Andrew D Paterson; Nathan B Sutter; Elaine A Ostrander; Catherine André; G Diane Shelton; Cameron Ackerley; Stephen W Scherer; Berge A Minassian
Expanded repeat in canine epilepsy.
Science (New York, N.Y.) 2005;307(5706):81.
2004: Stephen W Scherer; Eric Green
Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome.
Human molecular genetics 2004;13 Spec No 2():R303-13.
2004: Gregory Robb; Andrew R Carson; Sharon C Tai; Jason E Fish; Sundeep Singh; Takahiro Yamada; Stephen W Scherer; Kazuhiko Nakabayashi; Philip A Marsden
Post-transcriptional regulation of endothelial nitric-oxide synthase by an overlapping antisense mRNA transcript.
The Journal of biological chemistry 2004;279(36):37982-96.
2004: A John Iafrate; Lars Feuk; Miguel N Rivera; Marc L Listewnik; Patricia K Donahoe; Ying Qi; Stephen W Scherer; Charles Lee
Detection of large-scale variation in the human genome.
Nature genetics 2004;36(9):949-51.
2004: John B Vincent; Debbie Kolozsvari; Wendy S Roberts; Patrick Bolton; Hugh M D Gurling; Stephen W Scherer
Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;129B(1):82-4.
2004: Elayne M Chan; S Omer; M Ahmed; L R Bridges; C Bennett; Stephen W Scherer; Berge A Minassian
Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus.
Neurology 2004;63(3):565-7.
2004: Kazuhiko Nakabayashi; S Makino; S Minagawa; A C Smith; J S Bamforth; Philip Stanier; Michael Preece; L Parker-Katiraee; T Paton; Mitsuo Oshimura; Pleasantine Mill; Y Yoshikawa; C C Hui; David Monk; Gudrun E Moore; Stephen W Scherer
Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues.
Journal of medical genetics 2004;41(8):601-8.
2004: Michael D Taylor; Xiaoyun Zhang; Ling Liu; Chi-Chung Hui; Todd G Mainprize; Stephen W Scherer; Brandon J Wainwright; David Hogg; James T Rutka
Failure of a medulloblastoma-derived mutant of SUFU to suppress WNT signaling.
Oncogene 2004;23(26):4577-83.
2004: Elayne M Chan; Cameron Ackerley; Hannes Lohi; Leonarda Ianzano; Miguel A Cortez; Patrick Shannon; Stephen W Scherer; Berge A Minassian
Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy.
Human molecular genetics 2004;13(11):1117-29.
2004: Gevork N Mnatzakanian; Hannes Lohi; Iulia Munteanu; Simon E Alfred; Takahiro Yamada; Patrick J M MacLeod; Julie R Jones; Stephen W Scherer; N Carolyn Schanen; Michael J Friez; John B Vincent; Berge A Minassian
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.
Nature genetics 2004;36(4):339-41.
2004: John B Vincent; Sandy Thevarkunnel; Debbie Kolozsvari; Andrew D Paterson; Wendy Roberts; Stephen W Scherer
Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;125B(1):54-6.
2004: Leonarda Ianzano; Edwin J Young; Xiao-Chu Zhao; Elayne M Chan; M T Rodriguez; Maria V Torrado; Stephen W Scherer; Berge A Minassian
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.
Human mutation 2004;23(2):170-6.
2004: Xiangdong Liu; Xiaobin Li; Martin Li; Yugo J Acimovic; Zhenzhong Li; Stephen W Scherer; Xavier Estivill; Lap-Chee Tsui
Characterization of the segmental duplication LCR7-20 in the human genome.
Genomics 2004;83(2):262-9.
2003: Danielle M Andrade; Cameron Ackerley; T S C Minett; Hélio A G Teive; Saeed Bohlega; Stephen W Scherer; Berge A Minassian
Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.
Neurology 2003;61(11):1611-4.
2003: Ahmed Fadiel; Stuart Lithwick; Gopi Ganji; Stephen W Scherer
Remarkable sequence signatures in archaeal genomes.
Archaea (Vancouver, B.C.) 2003;1(3):185-90.
2003: Eitan Zlotorynski; Ayelet Rahat; Jennifer Skaug; Neta Ben-Porat; Efrat Ozeri; Ruth Hershberg; Ayala Levi; Stephen W Scherer; Hanah Margalit; Batsheva Kerem
Molecular basis for expression of common and rare fragile sites.
Molecular and cellular biology 2003;23(20):7143-51.
2003: Elayne M Chan; Edwin J Young; Leonarda Ianzano; Iulia Munteanu; Xiaochu Zhao; Constantine C Christopoulos; Giuliano Avanzini; Maurizio Elia; Cameron Ackerley; Nebojsa J Jovic; Saeed Bohlega; Eva Andermann; Guy Rouleau; Antonio V Delgado-Escueta; Berge A Minassian; Stephen W Scherer
Mutations in NHLRC1 cause progressive myoclonus epilepsy.
Nature genetics 2003;35(2):125-7.
2003: Elayne M Chan; D E Bulman; Andrew D Paterson; Julie Turnbull; Eva Andermann; F Andermann; Guy Rouleau; Antonio V Delgado-Escueta; Stephen W Scherer; Berge A Minassian
Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22.
Journal of medical genetics 2003;40(9):671-5.
2003: Lluis Armengol; Miguel Angel Pujana; Joseph Cheung; Stephen W Scherer; Xavier Estivill
Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements.
Human molecular genetics 2003;12(17):2201-8.
2003: Alexander K Hudek; Joseph Cheung; Andrew P Boright; Stephen W Scherer
Genescript: DNA sequence annotation pipeline.
Bioinformatics (Oxford, England) 2003;19(9):1177-8.
2003: Leonarda Ianzano; Xiao-Chu Zhao; Berge A Minassian; Stephen W Scherer
Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product.
Genomics 2003;81(6):579-87.
2003: Johann K Hitzler; Joseph Cheung; Yue Li; Stephen W Scherer; Alvin Zipursky
GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome.
Blood 2003;101(11):4301-4.
2003: Louise Bentley; Kazuhiko Nakabayashi; David Monk; Colin V Beechey; Jo Peters; Z Birjandi; F E Khayat; M Patel; Michael A Preece; Philip Stanier; Stephen W Scherer; Gudrun E Moore
The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome.
Journal of medical genetics 2003;40(4):249-56.
2003: Felipe A Cisternas; John B Vincent; Stephen W Scherer; Peter N Ray
Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family.
Genomics 2003;81(3):279-91.
2003: Erwin Petek; Christian Windpassinger; Monika Mach; Ludwig Rauter; Stephen W Scherer; Klaus Wagner; Peter M Kroisel
Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus.
American journal of medical genetics. Part A 2003;117A(2):122-6.
2003: Anne-Marie Lamhonwah; Jennifer Skaug; Stephen W Scherer; Ingrid Tein
A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn's disease locus (IBD5).
Biochemical and biophysical research communications 2003;301(1):98-101.
2003: Joseph Cheung; Michael D Wilson; Junjun Zhang; Razi Khaja; Jeffrey R MacDonald; Hong-Qiang Heng; Ben F Koop; Stephen W Scherer
Recent segmental and gene duplications in the mouse genome.
Genome biology 2003;4(8):R47.
2003: Joseph Cheung; Xavier Estivill; Razi Khaja; Jeffrey R MacDonald; Ken Lau; Lap-Chee Tsui; Stephen W Scherer
Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.
Genome biology 2003;4(4):R25.
2003: Andrew P Boright; Juha A Kere; Stephen W Scherer
Genomics and pediatric research.
Pediatric research 2003;53(1):4-9.
2002: John B Vincent; Erwin Petek; Sandy Thevarkunnel; Debbie Kolozsvari; Joseph Cheung; Megha Patel; Stephen W Scherer
The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system.
Genomics 2002;80(3):283-94.
2002: Kazuhiko Nakabayashi; Louise Bentley; Megan P Hitchins; Kohzoh Mitsuya; Makiko Meguro; Sachi Minagawa; John S Bamforth; Philip Stanier; Michael Preece; Rosanna Weksberg; Mitsuo Oshimura; Gudrun E Moore; Stephen W Scherer
Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32.
Human molecular genetics 2002;11(15):1743-56.
2002: Michael D Taylor; Ling Liu; Corey Raffel; Chi-Chung Hui; Todd G Mainprize; Xiaoyun Zhang; Ron Agatep; Sharon Chiappa; Luzhang Gao; Anja Lowrance; Aihau Hao; Alisa M Goldstein; Theodora Stavrou; Stephen W Scherer; Wieslaw T Dura; Brandon J Wainwright; Jeremy A Squire; James T Rutka; David Hogg
Mutations in SUFU predispose to medulloblastoma.
Nature genetics 2002;31(3):306-10.
2002: Kathy Chun; Ahmad S Teebi; Jack H Jung; Shelley Kennedy; Rachel Laframboise; Wendy S Meschino; Kazuhiko Nakabayashi; Stephen W Scherer; Peter N Ray; Ikuko Teshima
Genetic analysis of patients with the Saethre-Chotzen phenotype.
American journal of medical genetics 2002;110(2):136-43.
2002: Asaf Hellman; Eitan Zlotorynski; Stephen W Scherer; Joseph Cheung; John B Vincent; David I Smith; Luba Trakhtenbrot; Batsheva Kerem
A role for common fragile site induction in amplification of human oncogenes.
Cancer cell 2002;1(1):89-97.
2002: Kazuhiko Nakabayashi; Bridget A Fernandez; Ikuko Teshima; Cheryl Shuman; Virginia K Proud; Cynthia J Curry; David Chitayat; Theresa Grebe; Jeffrey Ming; Mitsuo Oshimura; Makiko Meguro; Kohzoh Mitsuya; Paromita Deb-Rinker; Jo-Anne Herbrick; Rosanna Weksberg; Stephen W Scherer
Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.
Genomics 2002;79(2):186-96.
2001: Joseph Cheung; Erwin Petek; Kazuhiko Nakabayashi; Lap-Chee Tsui; John B Vincent; Stephen W Scherer
Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31.
Genomics 2001;78(1-2):7-11.
2001: Lucy Osborne; M Li; B Pober; David Chitayat; J Bodurtha; Ariane Mandel; Teresa Costa; T Grebe; S Cox; Lap-Chee Tsui; Stephen W Scherer
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
Nature genetics 2001;29(3):321-5.
2001: Stephen W Scherer; J Cheung
Discovery of the human genome sequence in the public and private databases.
Current biology : CB 2001;11(20):R808-11.
2001: Shinji Hadano; Collette K Hand; Hitoshi Osuga; Yoshiko Yanagisawa; Asako Otomo; Rebecca S Devon; N Miyamoto; Junko Showguchi-Miyata; Y Okada; Roshni R Singaraja; D A Figlewicz; T Kwiatkowski; B A Hosler; Tally Lerman-Sagie; Jennifer Skaug; Jamal Nasir; R H Brown; Stephen W Scherer; Guy Rouleau; Michael R Hayden; Joh-E Ikeda
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.
Nature genetics 2001;29(2):166-73.
2001: Zhigui Ma; Stephan W Morris; V Valentine; M Li; JA Herbrick; X Cui; D Bouman; Y Li; P K Mehta; D Nizetic; Y Kaneko; G C Chan; L C Chan; Jeremy Squire; Stephen W Scherer; Johann K Hitzler
Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia.
Nature genetics 2001;28(3):220-1.
2001: K Nakabayashi; Stephen W Scherer
The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35.
Genomics 2001;73(1):108-12.
2001: Erwin Petek; Christian Windpassinger; John B Vincent; Joseph Cheung; Andrew P Boright; Stephen W Scherer; Peter M Kroisel; Klaus Wagner
Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.
American journal of human genetics 2001;68(4):848-58.
2001: Michael D Wilson; C Riemer; Duane W Martindale; P Schnupf; A P Boright; T L Cheung; Daniel M Hardy; S Schwartz; Stephen W Scherer; L C Tsui; W Miller; Ben F Koop
Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5.
Nucleic acids research 2001;29(6):1352-65.
2001: C Guin Ting Wong; Stephen W Scherer; O Carter Snead; David R Hampson
Localization of the human mGluR4 gene within an epilepsy susceptibility locus(1).
Brain research. Molecular brain research 2001;87(1):109-16.
2001: Berge A Minassian; D M Andrade; Leonarda Ianzano; Edwin J Young; E Chan; Cameron Ackerley; Stephen W Scherer
Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase.
Annals of neurology 2001;49(2):271-5.
2001: Shinji Hadano; Yoshiko Yanagisawa; Jennifer Skaug; Keith Fichter; Jamal Nasir; Duane W Martindale; BF Koop; Stephen W Scherer; Donald W Nicholson; Guy Rouleau; J Ikeda; Michael R Hayden
Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2.
Genomics 2001;71(2):200-13.
2000: Takehiko Sasaki; Junko Irie-Sasaki; Y Horie; Kurt Bachmaier; Jimmie E Fata; M Li; Akira Suzuki; Denis Bouchard; Alexandra Ho; Mark Redston; Steven Gallinger; Rama Khokha; Tak W Mak; Phillip T Hawkins; Len Stephens; Stephen W Scherer; May Tsao; Josef M Penninger
Colorectal carcinomas in mice lacking the catalytic subunit of PI(3)Kgamma.
Nature 2000;406(6798):897-902.
2000: Berge A Minassian; Leonarda Ianzano; M Meloche; Eva Andermann; Guy Rouleau; Antonio V Delgado-Escueta; Stephen W Scherer
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.
Neurology 2000;55(3):341-6.
2000: John B Vincent; Jo-Anne Herbrick; Hugh M D Gurling; Patrick Bolton; Wendy Roberts; Stephen W Scherer
Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual.
American journal of human genetics 2000;67(2):510-4.
2000: John B Vincent; Jennifer Skaug; Stephen W Scherer
The human homologue of flamingo, EGFL2, encodes a brain-expressed large cadherin-like protein with epidermal growth factor-like domains, and maps to chromosome 1p13.3-p21.1.
DNA research : an international journal for rapid publication of reports on genes and genomes 2000;7(3):233-5.
2000: Asaf Hellman; Ayelet Rahat; Stephen W Scherer; Saurav Guha; L C Tsui; Batsheva Kerem
Replication delay along FRA7H, a common fragile site on human chromosome 7, leads to chromosomal instability.
Molecular and cellular biology 2000;20(12):4420-7.
2000: Malgorzata J M Nowaczyk; M J Huggins; DJ Tomkins; E Rossi; JA Ramsay; John Woulfe; Stephen W Scherer; E Belloni
Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency..
Clinical genetics 2000;57(5):388-93.
2000: Berge A Minassian; Leonarda Ianzano; Antonio V Delgado-Escueta; Stephen W Scherer
Identification of new and common mutations in the EPM2A gene in Lafora disease.
Neurology 2000;54(2):488-90.
1999: BG Beatty; S Qi; M Pienkowska; JA Herbrick; T Scheidl; Z M Zhang; I Kola; Stephen W Scherer; Arun Seth
Chromosomal localization of phospholipase A2 activating protein, an Ets2 target gene, to 9p21.
Genomics 1999;62(3):529-32.
1999: David S Sinasac; Michael A Crackower; JR Lee; Keiko Kobayashi; Takeyori Saheki; Stephen W Scherer; Lap-Chee Tsui
Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue.
Genomics 1999;62(2):289-92.
1999: George M Yousef; Liu-Ying Luo; Stephen W Scherer; Georgia Sotiropoulou; Eleftherios P Diamandis
Molecular characterization of zyme/protease M/neurosin (PRSS9), a hormonally regulated kallikrein-like serine protease.
Genomics 1999;62(2):251-9.
1999: S J Mansour; J Skaug; X H Zhao; J Giordano; Stephen W Scherer; Paul Melançon
p200 ARF-GEP1: a Golgi-localized guanine nucleotide exchange protein whose Sec7 domain is targeted by the drug brefeldin A.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(14):7968-73.
1999: Keiko Kobayashi; David S Sinasac; Mikio Iijima; A P Boright; Laila Begum; JR Lee; Tomotsugu Yasuda; S Ikeda; Ryuki Hirano; H Terazono; Michael A Crackower; Ikuko Kondo; Lap-Chee Tsui; Stephen W Scherer; Takeyori Saheki
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.
Nature genetics 1999;22(2):159-63.
1999: Lucy Osborne; T Campbell; A Daradich; Stephen W Scherer; Lap-Chee Tsui
Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome.
Genomics 1999;57(2):279-84.
1999: Michael A Crackower; David S Sinasac; J Xia; Jun Motoyama; M Prochazka; Johanna M Rommens; Stephen W Scherer; Lap-Chee Tsui
Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human.
Genomics 1999;55(3):257-67.
1999: Michael A Crackower; David S Sinasac; JR Lee; JA Herbrick; Lap-Chee Tsui; Stephen W Scherer
Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24.
Cytogenetics and cell genetics 1999;87(3-4):197-8.
1999: Shinji Hadano; K Nichol; Ryan R Brinkman; Jamal Nasir; Duane W Martindale; BF Koop; Donald W Nicholson; Stephen W Scherer; Joh-E Ikeda; Michael R Hayden
A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34.
Genomics 1999;55(1):106-12.
1998: Sean E Egan; JA Herbrick; Lap-Chee Tsui; Brenda Cohen; Grace Flock; BG Beatty; Stephen W Scherer
Mapping of the human Lunatic Fringe (LFNG) gene to 7p22 and Manic Fringe (MFNG) to 22q12.
Genomics 1998;54(3):576-7.
1998: S J Mansour; J A Herbrick; Stephen W Scherer; Paul Melançon
Human GBF1 is a ubiquitously expressed gene of the sec7 domain family mapping to 10q24.
Genomics 1998;54(2):323-7.
1998: Berge A Minassian; JR Lee; Jo-Anne Herbrick; J Huizenga; S Soder; Andrew Mungall; Carl Bruder; R Gardner; Chung Yan Fong; S Carpenter; Laura B Jardim; P Satishchandra; Eva Andermann; O Carter Snead; I Lopes-Cendes; Lap-Chee Tsui; Antonio V Delgado-Escueta; Guy Rouleau; Stephen W Scherer
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.
Nature genetics 1998;20(2):171-4.
1998: D Mishmar; Ayelet Rahat; Stephen W Scherer; Gerald Nyakatura; B Hinzmann; Yoshinori Kohwi; Y Mandel-Gutfroind; J R Lee; Bernd Drescher; D E Sas; Hanah Margalit; Matthias Platzer; A Weiss; L C Tsui; André Rosenthal; Batsheva Kerem
Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(14):8141-6.
1998: AP Boright; Philip W Connelly; JH Brunt; Stephen W Scherer; Lap-Chee Tsui; Robert A Hegele
Genetic variation in paraoxonase-1 and paraoxonase-2 is associated with variation in plasma lipoproteins in Alberta Hutterites.
Atherosclerosis 1998;139(1):131-6.
1998: L Luo; JA Herbrick; Stephen W Scherer; BG Beatty; Jeremy Squire; Eleftherios P Diamandis
Structural characterization and mapping of the normal epithelial cell-specific 1 gene.
Biochemical and biophysical research communications 1998;247(3):580-6.
1998: M Ling; GE McEachern; A Seyda; Neviana Mackay; Stephen W Scherer; S Bratinova; BG Beatty; M L Giovannucci-Uzielli; Brian H Robinson
Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency.
Human molecular genetics 1998;7(3):501-5.
1998: A de la Puente; E Velasco; Luis A Pérez Jurado; Concepción Hernández-Chico; Frans M van de Rijke; Stephen W Scherer; Anton K Raap; Jesús Cruces
Analysis of the monomeric alphoid sequences in the pericentromeric region of human chromosome 7.
Cytogenetics and cell genetics 1998;83(3-4):176-81.
1997: Carol L Freund-Taylor; Cheryl Y Gregory-Evans; T Furukawa; Mary Papaioannou; J Looser; LA Ploder; James Bellingham; D Ng; Jo-Anne Herbrick; A Duncan; Stephen W Scherer; Lap-Chee Tsui; A Loutradis-Anagnostou; Samuel G Jacobson; C L Cepko; Shomi S Bhattacharya; Roderick R McInnes
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.
Cell 1997;91(4):543-53.
1997: Alex Odermatt; P E Taschner; Stephen W Scherer; BG Beatty; Vijay K Khanna; David R Cornblath; Vinay Chaudhry; W C Yee; B Schrank; G Karpati; M H Breuning; N Knoers; David H MacLennan
Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease.
Genomics 1997;45(3):541-53.
1997: Lucy Osborne; Jo-Anne Herbrick; T Greavette; Hong-Qiang Heng; Lap-Chee Tsui; Stephen W Scherer
PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7.
Genomics 1997;45(2):402-6.
1997: Robert A Hegele; Philip W Connelly; Stephen W Scherer; A J Hanley; S B Harris; Lap-Chee Tsui; B Zinman
Paraoxonase-2 gene (PON2) G148 variant associated with elevated fasting plasma glucose in noninsulin-dependent diabetes mellitus.
The Journal of clinical endocrinology and metabolism 1997;82(10):3373-7.
1997: Stephen W Scherer; S Soder; Robert M Duvoisin; J J Huizenga; Lap-Chee Tsui
The human metabotropic glutamate receptor 8 (GRM8) gene: a disproportionately large gene located at 7q31.3-q32.1.
Genomics 1997;44(2):232-6.
1997: Michael A Crackower; Hong-Qiang Heng; X Shi; Stephen W Scherer; Lap-Chee Tsui
Fluorescent in situ mapping of the murine deleted in split hand/split foot 1 (dss1) gene to chromosome 6.
Mammalian genome : official journal of the International Mammalian Genome Society 1997;8(9):704.
1997: Lucy Osborne; S Soder; X M Shi; B Pober; Teresa Costa; Stephen W Scherer; Lap-Chee Tsui
Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome.
American journal of human genetics 1997;61(2):449-52.
1997: M I Edelson; Stephen W Scherer; L C Tsui; William R Welch; Debra A Bell; Ross S Berkowitz; Samuel C Mok
Identification of a 1300 kilobase deletion unit on chromosome 7q31.3 in invasive epithelial ovarian carcinomas.
Oncogene 1997;14(24):2979-84.
1997: Michael A Crackower; Stephen W Scherer; Hong-Qiang Heng; Lap-Chee Tsui
Cloning of a DSS1 pseudogene (DSS1P1) and mapping to human chromosome band 5q14.
Mammalian genome : official journal of the International Mammalian Genome Society 1997;8(2):159-60.
1996: Roger Gaedigk; Wolfram Karges; M F Hui; Stephen W Scherer; H-Michael Dosch
Genomic organization and transcript analysis of ICAp69, a target antigen in diabetic autoimmunity.
Genomics 1996;38(3):382-91.
1996: Erich Roessler; E Belloni; K Gaudenz; Philippe Jay; Philippe Berta; Stephen W Scherer; Lap-Chee Tsui; Maximilian Muenke
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
Nature genetics 1996;14(3):357-60.
1996: E Belloni; Maximilian Muenke; Erich Roessler; G Traverso; J Siegel-Bartelt; A Frumkin; H F Mitchell; H Donis-Keller; Cynthia Helms; A V Hing; Hong-Qiang Heng; BF Koop; D Martindale; Johanna M Rommens; Lap-Chee Tsui; Stephen W Scherer
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.
Nature genetics 1996;14(3):353-6.
1996: J Rowles; Stephen W Scherer; T Xi; M Majer; D C Nickle; Johanna M Rommens; K M Popov; R A Harris; N L Riebow; J Xia; Lap-Chee Tsui; Clifton Bogardus; Michal Prochazka
Cloning and characterization of PDK4 on 7q21.3 encoding a fourth pyruvate dehydrogenase kinase isoenzyme in human.
The Journal of biological chemistry 1996;271(37):22376-82.
1996: Lucy Osborne; D Martindale; Stephen W Scherer; XM Shi; J Huizenga; Hong-Qiang Heng; T Costa; B Pober; L Lew; J Brinkman; Johanna M Rommens; BF Koop; Lap-Chee Tsui
Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.
Genomics 1996;36(2):328-36.
1996: K Eppert; Stephen W Scherer; Hilmi Ozcelik; R Pirone; PA Hoodless; H Kim; Lap-Chee Tsui; B Bapat; Steven Gallinger; Irene L Andrulis; Gerald Thomsen; Jeffrey L Wrana; Liliana Attisano
MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma.
Cell 1996;86(4):543-52.
1996: Stephen W Scherer; D S Feinstein; L Oliveira; Lap-Chee Tsui; Steven J Pittler
Gene structure and chromosome localization to 7q21.3 of the human rod photoreceptor transducin gamma-subunit gene (GNGT1).
Genomics 1996;35(1):241-3.
1996: Michael A Crackower; Stephen W Scherer; Johanna M Rommens; C C Hui; Parvoneh Poorkaj-Navas; S Soder; J M Cobben; L Hudgins; James P Evans; Lap-Chee Tsui
Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.
Human molecular genetics 1996;5(5):571-9.
1996: E J Johnson; Stephen W Scherer; Lucy Osborne; Lap-Chee Tsui; David Oscier; S Mould; Finbarr E Cotter
Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia.
Blood 1996;87(9):3579-86.
1996: Pia Höglund; S Haila; Stephen W Scherer; Lap-Chee Tsui; Eric Green; J Weissenbach; Christer Holmberg; Albert de La Chapelle; Juha Kere
Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31.
Genome research 1996;6(3):202-10.
1996: Kazuhiko Takahara; Lucy Osborne; Rosemary W Elliott; L C Tsui; Stephen W Scherer; Daniel S Greenspan
Fine mapping of the human and mouse genes for the type I procollagen COOH-terminal proteinase enhancer protein.
Genomics 1996;31(2):253-6.
1996: Stephen W Scherer; Robert M Duvoisin; R Kuhn; Hong-Qiang Heng; E Belloni; Lap-Chee Tsui
Localization of two metabotropic glutamate receptor genes, GRM3 and GRM8, to human chromosome 7q.
Genomics 1996;31(2):230-3.
1995: Stephen W Scherer; Hong-Qiang Heng; G W Robinson; Kathleen A Mahon; James P Evans; Lap-Chee Tsui
Assignment of the human homolog of mouse Dlx3 to chromosome 17q21.3-q22 by analysis of somatic cell hybrids and fluorescence in situ hybridization.
Mammalian genome : official journal of the International Mammalian Genome Society 1995;6(4):310-1.
1994: Stephen W Scherer; Parvoneh Poorkaj-Navas; H Massa; S Soder; T Allen; M Nunes; D Geshuri; E Wong; E Belloni; S Little
Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.
Human molecular genetics 1994;3(8):1345-54.
1994: Juergen Kunz; Stephen W Scherer; I Klawitz; S Soder; Y Z Du; N Speich; M Kalff-Suske; Hong-Qiang Heng; Lap-Chee Tsui; Karl-Heinz Grzeschik
Regional localization of 725 human chromosome 7-specific yeast artificial chromosome clones.
Genomics 1994;22(2):439-48.
1994: Stephen W Scherer; Parvoneh Poorkaj-Navas; T Allen; J Kim; D Geshuri; M Nunes; S Soder; K Stephens; R A Pagon; M A Patton
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.
American journal of human genetics 1994;55(1):12-20.
1994: Hong-Qiang Heng; XM Shi; Stephen W Scherer; Irene L Andrulis; Lap-Chee Tsui
Refined localization of the asparagine synthetase gene (ASNS) to chromosome 7, region q21.3, and characterization of the somatic cell hybrid line 4AF/106/KO15.
Cytogenetics and cell genetics 1994;66(2):135-8.
1993: Philip A Marsden; Hong-Qiang Heng; Stephen W Scherer; R J Stewart; A V Hall; XM Shi; Lap-Chee Tsui; K T Schappert
Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene.
The Journal of biological chemistry 1993;268(23):17478-88.
1993: Stephen W Scherer; Johanna M Rommens; S Soder; E Wong; N Plavsic; B J Tompkins; A Beattie; J Kim; Lap-Chee Tsui
Refined localization and yeast artificial chromosome (YAC) contig--mapping of genes and DNA segments in the 7q21-q32 region.
Human molecular genetics 1993;2(6):751-60.
1993: Stephen W Scherer; Ellis J Neufeld; P M Lievens; Stuart H Orkin; J Kim; Lap-Chee Tsui
Regional localization of the CCAAT displacement protein gene (CUTL1) to 7q22 by analysis of somatic cell hybrids.
Genomics 1993;15(3):695-6.
1992: Stephen W Scherer; B J Tompkins; Lap-Chee Tsui
A human chromosome 7-specific genomic DNA library in yeast artificial chromosomes.
Mammalian genome : official journal of the International Mammalian Genome Society 1992;3(3):179-81.
1991: Stephen W Scherer; Gail Otulakowski; Brian H Robinson; Lap-Chee Tsui
Localization of the human dihydrolipoamide dehydrogenase gene (DLD) to 7q31----q32.
Cytogenetics and cell genetics 1991;56(3-4):176-7.