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James Sutcliffe

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Disorders

Physiology

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Chromosomes, Human, Pair 15

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Benjamin M Neale; Irene Newsham; Zuleyma Peralta; Paz Polak; Ryan Poplin; Jeffrey G Reid; Kathryn Roeder; Elizabeth Rossin; Aniko Sabo; Kaitlin E Samocha; Chad Schafer; Gerard D Schellenberg; Khalid Shakir; Christine Stevens; Shamil Sunyaev; James S Sutcliffe; Otto Valladares; Benjamin F Voight; Li-San Wang; Jack R Wimbish; Yuanqing Wu; Seungtai Yoon; Tuo Zhao; Ruth Dannenfelser; Mark DePristo; Bernie Devlin; Tim Fennell; Jason Flannick; Menachem Fromer; Stacey Gabriel; Kiran Garimella; Evan T Geller; Richard A Gibbs; Yi Han; Omar Jabado; Andrew Kirby; Yan Kou; Shawn E Levy; Lora Lewis; Jayon Lihm; Elaine Lim; Chiao-Feng Lin; Han Liu; Li Liu; Avi Ma'ayan; Jared Maguire; Vladimir Makarov; Donna Muzny; Uma Nagaswamy; Eric Banks; Catalina Betancur; Eric Boerwinkle; Braden E Boone; Joseph Buxbaum; Guiqing Cai; Nicholas G Campbell; Edwin H Cook; Emily L Crawford; Mark J Daly
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Jeremy Veenstra-VanderWeele; Ran Ye; Ana Carneiro; Jordan Cohen; Jacqueline N Crawley; Lynette Daws; Hideki Iwamoto; Tammy Jessen; Travis M Kerr; Padmanabhan Mannangatti; Douglas G McMahon; Christopher L Muller; W Anthony Owens; Sammanda Ramamoorthy; Elaine Sanders-Bush; Jennifer E Sauer; Charisma R Shah; James S Sutcliffe; Brent J Thompson; Randy D Blakely
Autism gene variant causes hyperserotonemia, serotonin receptor hypersensitivity, social impairment and repetitive behavior.
Jillian P Casey; Judith M Conroy; Edwin H Cook; Hilary Coon; Catarina Correia; Christina Corsello; Marc Coutanche; Michael Cuccaro; Geraldine Dawson; Maretha de Jonge; Richard Delorme; Eftichia Duketis; Frederico Oliveira Duque; Brett S. Abrahams; Joana Almeida; Richard Anney; Elena Bacchelli; Anthony J Bailey; Gillian Baird; Agatino Battaglia; Tom Berney; Catalina Betancur; Nadia Bolshakova; Patrick F Bolton; Thomas Bourgeron; Sean Brennan; Joseph Buxbaum; Phil Cali; Rita M Cantor; Annette Estes; Penny Farrar; Bridget A Fernandez; Suzanne Foley; Susan E Folstein; Eric Fombonne; Christine M Freitag; Louise Gallagher; Daniel H Geschwind; John Gilbert; Michael Gill; Christopher Gillberg; Joseph T Glessner; Andrew Green; Jonathan Green; Stephen J Guter; Jonathan L Haines; Hakon Hakonarson; Joachim Hallmayer; Richard Holt; Gillian Hughes; Vanessa Hus; Roberta Igliozzi; Cecilia Kim; Sabine M Klauck; Alexander Kolevzon; Janine A Lamb; Ann Le Couteur; Marion Leboyer; Bennett L Leventhal; Catherine Lord; Sabata C Lund; Elena Maestrini; Tiago Magalhaes; Carine Mantoulan; Christian R Marshall; Helen McConachie; Christopher J McDougle; Jane McGrath; William M McMahon; Alison Merikangas; Judith Miller; Fiorella Minopoli; Ghazala K Mirza; Anthony P Monaco; Jeff Munson; Stanley F Nelson; John I Nurnberger; Gudrun Maria Nygren; Guiomar Oliveira; Alistair T Pagnamenta; Katerina Papanikolaou; Jeremy R Parr; Barbara Parrini; Margaret Pericak-Vance; Andrew Pickles; Dalila Pinto; Joseph Piven; David J Posey; Annemarie Poustka; Fritz Poustka; Jiannis Ragoussis; Regina Regan; Bernadette Roge; Michael L Rutter; Gerard D Schellenberg; Stephen W Scherer; Ana F Sequeira; Naisha Shah; Denis C Shields; Latha Soorya; Inês Sousa; Vera Stoppioni; James S Sutcliffe; Nuala Sykes; Peter Szatmari; Raffaella Tancredi; Maïté Tauber; Ann P Thompson; Susanne Thomson; John Tsiantis; Herman Van Engeland; Astrid Vicente; Veronica J Vieland; John B Vincent; Fred Volkmar; Jacob A S Vorstman; Simon Wallace; Kai Wang; Thomas H Wassink; Kathy White; Ellen M Wijsman; Kirsty Wing; Kerstin Wittemeyer; Brian L Yaspan; Lonnie Zwaigenbaum; Sean Ennis
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

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All Publications

2012: Benjamin M Neale; Irene Newsham; Zuleyma Peralta; Paz Polak; Ryan Poplin; Jeffrey G Reid; Kathryn Roeder; Elizabeth Rossin; Aniko Sabo; Kaitlin E Samocha; Chad Schafer; Gerard D Schellenberg; Khalid Shakir; Christine Stevens; Shamil Sunyaev; James S Sutcliffe; Otto Valladares; Benjamin F Voight; Li-San Wang; Jack R Wimbish; Yuanqing Wu; Seungtai Yoon; Tuo Zhao; Ruth Dannenfelser; Mark DePristo; Bernie Devlin; Tim Fennell; Jason Flannick; Menachem Fromer; Stacey Gabriel; Kiran Garimella; Evan T Geller; Richard A Gibbs; Yi Han; Omar Jabado; Andrew Kirby; Yan Kou; Shawn E Levy; Lora Lewis; Jayon Lihm; Elaine Lim; Chiao-Feng Lin; Han Liu; Li Liu; Avi Ma'ayan; Jared Maguire; Vladimir Makarov; Donna Muzny; Uma Nagaswamy; Eric Banks; Catalina Betancur; Eric Boerwinkle; Braden E Boone; Joseph Buxbaum; Guiqing Cai; Nicholas G Campbell; Edwin H Cook; Emily L Crawford; Mark J Daly
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Nature 2012;485(7397):242-5.
2012: Jeremy Veenstra-VanderWeele; Ran Ye; Ana Carneiro; Jordan Cohen; Jacqueline N Crawley; Lynette Daws; Hideki Iwamoto; Tammy Jessen; Travis M Kerr; Padmanabhan Mannangatti; Douglas G McMahon; Christopher L Muller; W Anthony Owens; Sammanda Ramamoorthy; Elaine Sanders-Bush; Jennifer E Sauer; Charisma R Shah; James S Sutcliffe; Brent J Thompson; Randy D Blakely
Autism gene variant causes hyperserotonemia, serotonin receptor hypersensitivity, social impairment and repetitive behavior.
Proceedings of the National Academy of Sciences of the United States of America 2012;109(14):5469-74.
2012: Jillian P Casey; Judith M Conroy; Edwin H Cook; Hilary Coon; Catarina Correia; Christina Corsello; Marc Coutanche; Michael Cuccaro; Geraldine Dawson; Maretha de Jonge; Richard Delorme; Eftichia Duketis; Frederico Oliveira Duque; Brett S. Abrahams; Joana Almeida; Richard Anney; Elena Bacchelli; Anthony J Bailey; Gillian Baird; Agatino Battaglia; Tom Berney; Catalina Betancur; Nadia Bolshakova; Patrick F Bolton; Thomas Bourgeron; Sean Brennan; Joseph Buxbaum; Phil Cali; Rita M Cantor; Annette Estes; Penny Farrar; Bridget A Fernandez; Suzanne Foley; Susan E Folstein; Eric Fombonne; Christine M Freitag; Louise Gallagher; Daniel H Geschwind; John Gilbert; Michael Gill; Christopher Gillberg; Joseph T Glessner; Andrew Green; Jonathan Green; Stephen J Guter; Jonathan L Haines; Hakon Hakonarson; Joachim Hallmayer; Richard Holt; Gillian Hughes; Vanessa Hus; Roberta Igliozzi; Cecilia Kim; Sabine M Klauck; Alexander Kolevzon; Janine A Lamb; Ann Le Couteur; Marion Leboyer; Bennett L Leventhal; Catherine Lord; Sabata C Lund; Elena Maestrini; Tiago Magalhaes; Carine Mantoulan; Christian R Marshall; Helen McConachie; Christopher J McDougle; Jane McGrath; William M McMahon; Alison Merikangas; Judith Miller; Fiorella Minopoli; Ghazala K Mirza; Anthony P Monaco; Jeff Munson; Stanley F Nelson; John I Nurnberger; Gudrun Maria Nygren; Guiomar Oliveira; Alistair T Pagnamenta; Katerina Papanikolaou; Jeremy R Parr; Barbara Parrini; Margaret Pericak-Vance; Andrew Pickles; Dalila Pinto; Joseph Piven; David J Posey; Annemarie Poustka; Fritz Poustka; Jiannis Ragoussis; Regina Regan; Bernadette Roge; Michael L Rutter; Gerard D Schellenberg; Stephen W Scherer; Ana F Sequeira; Naisha Shah; Denis C Shields; Latha Soorya; Inês Sousa; Vera Stoppioni; James S Sutcliffe; Nuala Sykes; Peter Szatmari; Raffaella Tancredi; Maïté Tauber; Ann P Thompson; Susanne Thomson; John Tsiantis; Herman Van Engeland; Astrid Vicente; Veronica J Vieland; John B Vincent; Fred Volkmar; Jacob A S Vorstman; Simon Wallace; Kai Wang; Thomas H Wassink; Kathy White; Ellen M Wijsman; Kirsty Wing; Kerstin Wittemeyer; Brian L Yaspan; Lonnie Zwaigenbaum; Sean Ennis
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
Human genetics 2012;131(4):565-79.
2012: Catherine Lord; Feihan Lu; Rhiannon Luyster; Donna M Martin; Judith Miles; Fiona Miller; Jennifer Olson; OY Ousley; Sarika U Peters; Eva Petkova; Judith Piggot; Jennifer Richler; Celine Saulnier; Mandy Steiman; James S Sutcliffe; Jennifer Tjernagel; Zachary Warren; Agnes Whitaker; Molly Algermissen; Raphael Bernier; Somer Lauren Bishop; Edwin H Cook; Amy Esler; Eric Fombonne; Weijin Gan; Jennifer Gerdts; Robin Page Goin-Kochel; Katherine Gotham; Lee Anne Green-Snyder; Stephen Guter; Lisa Guy; Ellen Hanson; Rachel Hundley; Vanessa Hus; Stephen M Kanne; Ami Klin; Susan Risi
A multisite study of the clinical diagnosis of different autism spectrum disorders.
Archives of general psychiatry 2012;69(3):306-13.
2012: Zachary Warren; Alison Vehorn; Elizabeth Dohrmann; Amy Nicholson; James S Sutcliffe; Jeremy Veenstra-VanderWeele
Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping "rapidly"?
Autism research : official journal of the International Society for Autism Research 2012;5(1):31-8.
2012: Lambertus Klei; David H Ledbetter; Catherine Lord; Jennifer K Lowe; Shrikant M Mane; Christa Lese Martin; Donna M Martin; Nadine M Melhem; Daniel Moreno-De-Luca; Eric M Morrow; Michael T Murtha; Kathryn Roeder; Stephan J Sanders; Matthew W State; James S Sutcliffe; Christopher A Walsh; A Jeremy Willsey; Timothy W Yu; Eric Fombonne; Daniel Geschwind; Dorothy E Grice; Vanessa Hus; Pauline Chaste; Edwin H Cook; Bernie Devlin
Common genetic variants, acting additively, are a major source of risk for autism.
Molecular autism 2012;3(1):9.
2012: Lea Davis; Eric R Gamazon; Emily Kistner-Griffin; Chunyu Liu; James S Sutcliffe; Judith A Badner; Edwin H Cook; Nancy J Cox
Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci.
Molecular autism 2012;3(1):3.
2011: Patricia B S Celestino-Soper; A Craig Chinault; Edwin H Cook; Lea Davis; A Gulhan Ercan-Sencicek; Tomasz Gambin; Jennifer R German; Jian Li; Aleksandar Milosavljevic; Michael T Murtha; Zhishuo Ou; Stephan Sanders; Chad A Shaw; Pawel Stankiewicz; Sate Matthew; James S Sutcliffe; Susanne Thomson; Arthur L Beaudet
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Human molecular genetics 2011;20(22):4360-70.
2011: Richard J L Anney; Joseph Buxbaum; Joseph D Buxbaum; Louise Gallagher; Michael Gill; Michael Gill; Elaine M Kenny; Colm O'Dushlaine; Elena Parkhomenka; James S Sutcliffe; James Sutcliffe; Brian L Yaspan; Louise Gallagher
Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.
European journal of human genetics : EJHG 2011;19(10):1082-9.
2011: Chong-Bin Zhu; Nicholas G Campbell; William A Hewlett; Kathryn M Lindler; James S Sutcliffe; Randy D Blakely
Colocalization and regulated physical association of presynaptic serotonin transporters with A₃ adenosine receptors.
Molecular pharmacology 2011;80(3):458-65.
2011: Stephan Sanders; Chad A Shaw; Michael Sheldon; Youeun Song; James S Sutcliffe; Susanne A Thomson; Jay A Tischfield; Christopher Walsh; Qi Wang; Brian L Yaspan; Timothy W Yu; Ilana R Yurkiewicz; Nicole R Davis Wright; Arthur L Beaudet; Kaya Bilguvar; Andrew I Brooks; Rita M Cantor; Patricia B S Celestino-Soper; Murim Choi; Su H Chu; Edwin H Cook; Emily L Crawford; Martin Curland; Lea Davis; Bernie Devlin; Rahul M Dhodapkar; Michael DiCola; Nicholas M DiLullo; A Gulhan Ercan-Sencicek; Thomas V Fernandez; Vikram Fielding-Singh; Daniel O Fishman; Eric Fombonne; Stephanie Frahm; Rouben Garagaloyan; Daniel Geschwind; Gerald S Goh; Dorothy E Grice; Murat Günel; Abha R Gupta; Vanessa Hus; Sindhuja Kammela; Lambertus Klei; David Ledbetter; Richard P Lifton; Catherine Lord; Jennifer K Lowe; Sabata C Lund; Rui Luo; Shrikant M Mane; Christa Lese Martin; Donna M Martin; Christopher E Mason; Anna D McGrew; Kyle A Meyer; William J Moffat; Michael P Moreau; Daniel Moreno-De-Luca; Eric M Morrow; John D Murdoch; Michael T Murtha; Gordon T Ober; Brian J O'Roak; Rebecca S Pottenger; Melanie J Raubeson; Kathryn Roeder; Sate Matthew
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Neuron 2011;70(5):863-85.
2011: Daniel B Campbell; Dibyadeep Datta; Shaine T Jones; Evon Batey Lee; James S Sutcliffe; Elizabeth A D Hammock; Pat Levitt
Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder.
Journal of neurodevelopmental disorders 2011;3(2):101-12.
2011: Veronica J Vieland; Joachim Hallmayer; Yungui Huang; Hameed Khan; Anthony P Monaco; Alistair T Pagnamenta; Andrew D Paterson; Dalila Pinto; Stephen W Scherer; James S Sutcliffe; Peter Szatmari
Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism.
Journal of neurodevelopmental disorders 2011;3(2):113-23.
2011: Brian L Yaspan; William S Bush; Eric S Torstenson; Deqiong Ma; Margaret Pericak-Vance; Marylyn D Ritchie; James S Sutcliffe; Jonathan L Haines
Genetic analysis of biological pathway data through genomic randomization.
Human genetics 2011;129(5):563-71.
2011: Emily Kistner-Griffin; Camille W Brune; Lea Davis; James S Sutcliffe; Nancy J Cox; Edwin H Cook
Parent-of-origin effects of the serotonin transporter gene associated with autism.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2011;156(2):139-44.
2011: Alistair T Pagnamenta; Hameed Khan; Susan Walker; Dianne Gerrelli; Kirsty Wing; Maria Clara Bonaglia; Roberto Giorda; Tom Berney; Elisa Mani; Massimo Molteni; Dalila Pinto; Ann Le Couteur; Joachim Hallmayer; James S Sutcliffe; Peter Szatmari; Andrew D Paterson; Stephen W Scherer; Veronica J Vieland; Anthony P Monaco
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability.
Journal of medical genetics 2011;48(1):48-54.
2011: R J Delahanty; J Q Kang; C W Brune; E O Kistner; Eric Courchesne; N J Cox; Edwin H Cook; Robert L Macdonald; James S Sutcliffe
Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism.
Molecular psychiatry 2011;16(1):86-96.
2010: Richard Anney; Lambertus Klei; Dalila Pinto; Regina Regan; Judith Conroy; Tiago R Magalhaes; Catarina Correia; Brett S. Abrahams; Nuala Sykes; Alistair T Pagnamenta; Joana Almeida; Elena Bacchelli; Anthony J Bailey; Gillian Baird; Agatino Battaglia; Tom Berney; Nadia Bolshakova; Sven Bölte; Patrick F Bolton; Thomas Bourgeron; Sean Brennan; Jessica Brian; Andrew R Carson; Guillermo Casallo; Jillian Casey; Su H Chu; Lynne Cochrane; Christina Corsello; Emily L Crawford; Andrew Crossett; Geraldine Dawson; Maretha de Jonge; Richard Delorme; Irene Drmic; Eftichia Duketis; Frederico Oliveira Duque; Annette Estes; Penny Farrar; Bridget A Fernandez; Susan E Folstein; Eric Fombonne; Christine M Freitag; John Gilbert; Christopher Gillberg; Joseph T Glessner; Jeremy Goldberg; Jonathan Green; Stephen J Guter; Hakon Hakonarson; Elizabeth A Heron; Matthew Hill; Richard Holt; Jennifer L Howe; Gillian Hughes; Vanessa Hus; Roberta Igliozzi; Cecilia Kim; Sabine M Klauck; Alexander Kolevzon; Olena Korvatska; Vlad Kustanovich; Clara M Lajonchere; Janine A Lamb; Magdalena Laskawiec; Marion Leboyer; Ann Le Couteur; Bennett L Leventhal; Anath C Lionel; Xiao-Qing Liu; Catherine Lord; Linda Lotspeich; Sabata C Lund; Elena Maestrini; William Mahoney; Carine Mantoulan; Christian R Marshall; Helen McConachie; Christopher J McDougle; Jane McGrath; William M McMahon; Nadine M Melhem; Alison Merikangas; Ohsuke Migita; Nancy J Minshew; Ghazala K Mirza; Jeffrey Munson; Stanley F Nelson; Carolyn Noakes; Abdul Noor; Gudrun Maria Nygren; Guiomar Oliveira; Katerina Papanikolaou; Jeremy R Parr; Barbara Parrini; Tara Paton; Andrew Pickles; Joseph Piven; David J Posey; Annemarie Poustka; Fritz Poustka; APARNA PRASAD; Jiannis Ragoussis; Katy Renshaw; Jessica Rickaby; Wendy Roberts; Kathryn Roeder; Bernadette Roge; Michael L Rutter; Laura J Bierut; John P Rice; Jeff Salt; Katherine Sansom; Daisuke Sato; Ricardo Segurado; Lili Senman; Naisha Shah; Val C Sheffield; Latha Soorya; Inês Sousa; Vera Stoppioni; Christina Strawbridge; Raffaella Tancredi; Katherine Tansey; Bhooma Thiruvahindrapduram; Ann P Thompson; Susanne Thomson; Ana Tryfon; John Tsiantis; Herman Van Engeland; John B Vincent; Fred Volkmar; Simon Wallace; Kai Wang; Zhouzhi Wang; Thomas H Wassink; Kirsty Wing; Kerstin Wittemeyer; Shawn Wood; Brian L Yaspan; Danielle Zurawiecki; Lonnie Zwaigenbaum; Catalina Betancur; Joseph Buxbaum; Rita M Cantor; Edwin H Cook; Hilary Coon; Michael Cuccaro; Louise Gallagher; Daniel Geschwind; Michael Gill; Jonathan L Haines; Judith Miller; Anthony P Monaco; John I Nurnberger; Andrew D Paterson; Margaret Pericak-Vance; Gerard D Schellenberg; Stephen W Scherer; James S Sutcliffe; Peter Szatmari; Astrid M Vicente; Veronica J Vieland; Ellen M Wijsman; Bernie Devlin; Sean Ennis; Joachim Hallmayer
A genome-wide scan for common alleles affecting risk for autism.
Human molecular genetics 2010;19(20):4072-82.
2010: Dalila Pinto; Alistair T Pagnamenta; Lambertus Klei; Richard Anney; Daniele Merico; Regina Regan; Judith Conroy; Tiago R Magalhaes; Catarina Correia; Brett S. Abrahams; Joana Almeida; Elena Bacchelli; Gary D Bader; Anthony J Bailey; Gillian Baird; Agatino Battaglia; Tom Berney; Nadia Bolshakova; Sven Bölte; Patrick F Bolton; Thomas Bourgeron; Sean Brennan; Jessica Brian; Susan E Bryson; Andrew R Carson; Guillermo Casallo; Jillian Casey; Brian H Y Chung; Lynne Cochrane; Christina Corsello; Emily L Crawford; Andrew Crossett; Cheryl Cytrynbaum; Geraldine Dawson; Maretha de Jonge; Richard Delorme; Irene Drmic; Eftichia Duketis; Frederico Oliveira Duque; Annette Estes; Penny Farrar; Bridget A Fernandez; Susan E Folstein; Eric Fombonne; Christine M Freitag; John Gilbert; Christopher Gillberg; Joseph T Glessner; Jeremy Goldberg; Andrew Green; Jonathan Green; Stephen J Guter; Hakon Hakonarson; Elizabeth A Heron; Matthew Hill; Richard Holt; Jennifer L Howe; Gillian Hughes; Vanessa Hus; Roberta Igliozzi; Cecilia Kim; Sabine M Klauck; Alexander Kolevzon; Olena Korvatska; Vlad Kustanovich; Clara M Lajonchere; Janine A Lamb; Magdalena Laskawiec; Marion Leboyer; Ann Le Couteur; Bennett L Leventhal; Anath C Lionel; Xiao-Qing Liu; Catherine Lord; Linda Lotspeich; Sabata C Lund; Elena Maestrini; William Mahoney; Carine Mantoulan; Christian R Marshall; Helen McConachie; Christopher J McDougle; Jane McGrath; William M McMahon; Alison Merikangas; Ohsuke Migita; Nancy J Minshew; Ghazala K Mirza; Jeffrey Munson; Stanley F Nelson; Carolyn Noakes; Abdul Noor; Gudrun Maria Nygren; Guiomar Oliveira; Katerina Papanikolaou; Jeremy R Parr; Barbara Parrini; Tara Paton; Andrew Pickles; Marion Pilorge; Joseph Piven; Chris P Ponting; David J Posey; Annemarie Poustka; Fritz Poustka; APARNA PRASAD; Jiannis Ragoussis; Katy Renshaw; Jessica Rickaby; Wendy Roberts; Kathryn Roeder; Bernadette Roge; Michael L Rutter; Laura J Bierut; John P Rice; Jeff Salt; Katherine Sansom; Daisuke Sato; Ricardo Segurado; Ana F Sequeira; Lili Senman; Naisha Shah; Val C Sheffield; Latha Soorya; Inês Sousa; Olaf Stein; Nuala Sykes; Vera Stoppioni; Christina Strawbridge; Raffaella Tancredi; Katherine Tansey; Bhooma Thiruvahindrapduram; Ann P Thompson; Susanne Thomson; Ana Tryfon; John Tsiantis; Herman Van Engeland; John B Vincent; Fred Volkmar; Simon Wallace; Kai Wang; Zhouzhi Wang; Thomas H Wassink; Caleb Webber; Rosanna Weksberg; Kirsty Wing; Kerstin Wittemeyer; Shawn Wood; Jing Wu; Brian L Yaspan; Danielle Zurawiecki; Lonnie Zwaigenbaum; Joseph Buxbaum; Rita M Cantor; Edwin H Cook; Hilary Coon; Michael Cuccaro; Bernie Devlin; Sean Ennis; Louise Gallagher; Daniel Geschwind; Michael Gill; Jonathan L Haines; Joachim Hallmayer; Judith Miller; Anthony P Monaco; John I Nurnberger; Andrew D Paterson; Margaret Pericak-Vance; Gerard D Schellenberg; Peter Szatmari; Astrid M Vicente; Veronica J Vieland; Ellen M Wijsman; Stephen W Scherer; James S Sutcliffe; Catalina Betancur
Functional impact of global rare copy number variation in autism spectrum disorders.
Nature 2010;466(7304):368-72.
2010: Daniel B Campbell; Dana Warren; James S Sutcliffe; Evon Batey Lee; Pat Levitt
Association of MET with social and communication phenotypes in individuals with autism spectrum disorder.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010;153B(2):438-46.
2009: Shane E McCarthy; Vladimir Makarov; George Kirov; Anjene M Addington; Jon McClellan; Seungtai Yoon; Diana O Perkins; Diane E Dickel; Mary Kusenda; Olga Krastoshevsky; Verena Krause; Ravinesh A Kumar; Detelina Grozeva; Dheeraj Malhotra; Tom Walsh; Elaine H Zackai; Paige Kaplan; Jaya Ganesh; Ian D Krantz; Nancy B Spinner; Patricia Roccanova; Abhishek Bhandari; Kevin Pavon; B Lakshmi; Anthony Leotta; Jude Kendall; Yoon-Ha Lee; Vladimir Vacic; Sydney Gary; Lilia M Iakoucheva; Timothy J Crow; Susan L Christian; Jeffrey A Lieberman; Thomas Stroup; Terho Lehtimäki; Kaija Puura; Chad Haldeman-Englert; Justin Pearl; Meredith Goodell; Virginia L Willour; Pamela Derosse; Jo Steele; Layla Kassem; Jessica Wolff; Nisha Chitkara; Francis McMajon; Anil Malhotra; James B Potash; Thomas G. Schulze; Markus M Nöthen; Sven Cichon; Marcella Rietschel; Ellen Leibenluft; Vlad Kustanovich; Clara M Lajonchere; James S Sutcliffe; David Skuse; Michael Gill; Louise Gallagher; Nancy R Mendell; Nick Craddock; Michael J Owen; Michael C O'Donovan; Tamim H Shaikh; Ezra Susser; Lynn E Delisi; Patrick F Sullivan; Curtis K Deutsch; Judith Rapoport; Deborah Levy; Mary-Claire King; Jonathan Sebat
Microduplications of 16p11.2 are associated with schizophrenia.
Nature genetics 2009;41(11):1223-7.
2009: Judith Conroy; Lynne Cochrane; Richard J L Anney; James S Sutcliffe; Paula Carthy; Adam Dunlop; Marice Mullarkey; Bronagh O'hici; Andrew J Green; Sean Ennis; Michael Gill; Louise Gallagher
Fine mapping and association studies in a candidate region for autism on chromosome 2q31-q32.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(4):535-44.
2009: Jeremy Veenstra-VanderWeele; Tammy N Jessen; Brent J Thompson; Michelle Carter; Harish C Prasad; Jennifer A Steiner; James S Sutcliffe; Randy D Blakely
Modeling rare gene variation to gain insight into the oldest biomarker in autism: construction of the serotonin transporter Gly56Ala knock-in mouse.
Journal of neurodevelopmental disorders 2009;1(2):158-71.
2009: Maja Bucan; Brett S. Abrahams; Kai Wang; Joseph T Glessner; Edward I Herman; Lisa I Sonnenblick; Ana I Alvarez Retuerto; Marcin Imielinski; Dexter Hadley; Jonathan P Bradfield; Cecilia Kim; Nicole B Gidaya; Ingrid Lindquist; Ted Hutman; Marian Sigman; Vlad Kustanovich; Clara M Lajonchere; Andrew Singleton; Junhyong Kim; Thomas H Wassink; William M McMahon; Thomas Owley; John A Sweeney; Hilary Coon; John I Nurnberger; Mingyao Li; Rita M Cantor; Nancy J Minshew; James S Sutcliffe; Edwin H Cook; Geraldine Dawson; Joseph Buxbaum; Struan F A Grant; Gerard D Schellenberg; Daniel Geschwind; Hakon Hakonarson
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
PLoS genetics 2009;5(6):e1000536.
2009: Joseph T Glessner; Kai Wang; Guiqing Cai; Olena Korvatska; Cecilia E Kim; Shawn Wood; Haitao Zhang; Annette Estes; Camille W. Brune; Jonathan P Bradfield; Marcin Imielinski; Edward C Frackelton; Jennifer Reichert; Emily L Crawford; Jeffrey Munson; Patrick M A Sleiman; Rosetta Chiavacci; Kiran Annaiah; Kelly Thomas; Cuiping Hou; Wendy Glaberson; James Flory; Frederick Otieno; Maria Garris; Latha Soorya; Lambertus Klei; Joseph Piven; Kacie J Meyer; Evdokia Anagnostou; Takeshi Sakurai; Rachel M Game; Danielle S Rudd; Danielle Zurawiecki; Christopher J McDougle; Lea Davis; Judith Miller; David J Posey; Shana Michaels; Alexander Kolevzon; Jeremy Silverman; Raphael Bernier; Susan E Levy; Robert T Schultz; Geraldine Dawson; Thomas Owley; William M McMahon; Thomas H Wassink; John A Sweeney; John I Nurnberger; Hilary Coon; James S Sutcliffe; Nancy J Minshew; Struan F A Grant; Maja Bucan; Edwin H Cook; Joseph Buxbaum; Bernie Devlin; Gerard D Schellenberg; Hakon Hakonarson
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Nature 2009;459(7246):569-73.
2009: Kai Wang; Haitao Zhang; Deqiong Ma; Maja Bucan; Joseph T Glessner; Brett S. Abrahams; Daria Salyakina; Marcin Imielinski; Jonathan P Bradfield; Patrick M A Sleiman; Cecilia E Kim; Cuiping Hou; Edward Frackelton; Rosetta Chiavacci; Nagahide Takahashi; Takeshi Sakurai; Eric Rappaport; Clara M Lajonchere; Jeffrey Munson; Annette Estes; Olena Korvatska; Joseph Piven; Lisa I Sonnenblick; Ana I Alvarez Retuerto; Edward I Herman; Hongmei Dong; Ted Hutman; Marian Sigman; Sally Ozonoff; Ami Klin; Thomas Owley; John A Sweeney; Camille W. Brune; Rita M Cantor; Raphael Bernier; John Gilbert; Michael Cuccaro; William M McMahon; Judith Miller; Sate Matthew; Thomas H Wassink; Hilary Coon; Susan E Levy; Robert T Schultz; John I Nurnberger; Jonathan L Haines; James S Sutcliffe; Edwin H Cook; Nancy J Minshew; Joseph Buxbaum; Geraldine Dawson; Struan F A Grant; Daniel Geschwind; Margaret Pericak-Vance; Gerard D Schellenberg; Hakon Hakonarson
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
Nature 2009;459(7246):528-33.
2009: Daniel B Campbell; Timothy M Buie; Harland Winter; Margaret Bauman; James S Sutcliffe; James M Perrin; Pat Levitt
Distinct genetic risk based on association of MET in families with co-occurring autism and gastrointestinal conditions.
Pediatrics 2009;123(3):1018-24.
2009: Harish C Prasad; Jennifer A Steiner; James S Sutcliffe; Randy D Blakely
Enhanced activity of human serotonin transporter variants associated with autism.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences 2009;364(1514):163-73.
2009: Ravinesh A Kumar; Christian R Marshall; Judith A Badner; Timothy D Babatz; Zohar Mukamel; Kimberly A Aldinger; Jyotsna Sudi; Camille W. Brune; Gerald Goh; Samer Karamohamed; James S Sutcliffe; Edwin H Cook; Daniel Geschwind; William B Dobyns; Stephen W Scherer; Susan L Christian
Association and mutation analyses of 16p11.2 autism candidate genes.
PloS one 2009;4(2):e4582.
2008: Heather C Mefford; andrew sharp; Carl Baker; Andy Itsara; Zhaoshi Jiang; Karen Buysse; Shuwen Huang; Viv K Maloney; John A Crolla; Diana Baralle; Amanda Collins; Catherine Mercer; Koen Norga; Thomy de Ravel; koenraad devriendt; Ernie M H F Bongers; Nicole de Leeuw; William Reardon; stefania gimelli; Frederique Bena; Raoul Hennekam; Alison Male; Lorraine Gaunt; Jill Clayton-Smith; Ingrid Simonic; Soo Mi Park; Sarju G Mehta; Serena Nik-Zainal; C Geoffrey Woods; Helen V Firth; Georgina Parkin; Marco Fichera; Santina Reitano; Mariangela Lo Giudice; Kelly E Li; Iris Casuga; Adam Broomer; Bernard Conrad; Markus Schwerzmann; Lorenz Räber; Sabina Gallati; Pasquale Striano; Antonietta Coppola; John L Tolmie; Edward S Tobias; Chris Lilley; Lluis Armengol; Yves Spysschaert; Patrick Verloo; Anja De Coene; Linde Goossens; Geert Mortier; Frank Speleman; Ellen van Binsbergen; Marcel R Nelen; Ron Hochstenbach; Martin Poot; Louise Gallagher; Michael Gill; Jon McClellan; Mary-Claire King; Regina Regan; Cindy Skinner; Roger E Stevenson; Stylianos Antonarakis; Caifu Chen; Xavier Estivill; Björn Menten; Giorgio Gimelli; Susan Gribble; Stuart Schwartz; James S Sutcliffe; Tom Walsh; Samantha J L Knight; Jonathan Sebat; Corrado Romano; Charles E Schwartz; Joris Veltman; Bert B A de Vries; Joris R Vermeesch; John C K Barber; Lionel Willatt; May Tassabehji; Evan E Eichler
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
The New England journal of medicine 2008;359(16):1685-99.
2008: James S Sutcliffe
Heterogeneity and the design of genetic studies in autism.
Autism research : official journal of the International Society for Autism Research 2008;1(4):205-6.
2008: James S Sutcliffe
Genetics. Insights into the pathogenesis of autism.
Science (New York, N.Y.) 2008;321(5886):208-9.
2008: Daniel B Campbell; Chun Li; James S Sutcliffe; Antonio M Persico; Pat Levitt
Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder.
Autism research : official journal of the International Society for Autism Research 2008;1(3):159-68.
2008: James S Sutcliffe
Affiliative behaviors and beyond: it's the phenotype, stupid.
Biological psychiatry 2008;63(10):909-10.
2008: Anthony Bailey; James S Sutcliffe; Robert Schultz; Sally J Rogers
Our vision for Autism Research.
Autism research : official journal of the International Society for Autism Research 2008;1(2):71-2.
2008: Sarah Cross; Soo-Jeong Kim; Lauren A Weiss; Ryan J Delahanty; James S Sutcliffe; Bennett L Leventhal; Edwin H Cook; Jeremy Veenstra-VanderWeele
Molecular genetics of the platelet serotonin system in first-degree relatives of patients with autism.
Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2008;33(2):353-60.
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: Jonathan Sebat; B Lakshmi; Dheeraj Malhotra; Jennifer Troge; Christa Lese Martin; Tom Walsh; Boris Yamrom; Seungtai Yoon; Alex Krasnitz; Jude Kendall; Anthony Leotta; Deepa Pai; Ray Zhang; Yoon-Ha Lee; James Hicks; Sarah J Spence; Annette T Lee; Kaija Puura; Terho Lehtimäki; David Ledbetter; Peter K Gregersen; Joel Bregman; James S Sutcliffe; Vaidehi Jobanputra; Wendy Chung; Dorothy Warburton; Mary-Claire King; David Skuse; Daniel Geschwind; T Conrad Gilliam; Qian Ye; Michael Wigler
Strong association of de novo copy number mutations with autism.
Science (New York, N.Y.) 2007;316(5823):445-9.
2007: Peter Szatmari; Andrew D Paterson; Lonnie Zwaigenbaum; Wendy Roberts; Jessica Brian; Xiao-Qing Liu; John B Vincent; Jennifer L Skaug; Ann P Thompson; Lili Senman; Lars Feuk; Cheng Qian; Susan E Bryson; Marshall B Jones; Christian R Marshall; Stephen W Scherer; Veronica J Vieland; Christopher Bartlett; La Vonne Mangin; Rhinda Goedken; Alberto Segre; Margaret Pericak-Vance; Michael Cuccaro; John Gilbert; Harry H Wright; Ruth K Abramson; Catalina Betancur; Thomas Bourgeron; Christopher Gillberg; Marion Leboyer; Joseph Buxbaum; Kenneth L Davis; Eric Hollander; Jeremy Silverman; Joachim Hallmayer; Linda Lotspeich; James S Sutcliffe; Jonathan L Haines; Susan E Folstein; Joseph Piven; Thomas H Wassink; Val Sheffield; Daniel Geschwind; Maja Bucan; W Ted Brown; Rita M Cantor; John N Constantino; T Conrad Gilliam; Martha Herbert; Clara Lajonchere; David Ledbetter; Christa Lese Martin; Janet Miller; Stan Nelson; Carol A Samango-Sprouse; Sarah J Spence; Sate Matthew; Rudolph E Tanzi; Hilary Coon; Geraldine Dawson; Bernie Devlin; Annette Estes; Pamela Flodman; Lambertus Klei; William M McMahon; Nancy J Minshew; Jeffrey Munson; Elena Korvatska; Patricia M Rodier; Gerard D Schellenberg; Moyra Smith; M Anne Spence; Chris Stodgell; Ping Guo Tepper; Ellen M Wijsman; Chang-En Yu; Bernadette Rogé; Carine Mantoulan; Kerstin Wittemeyer; Annemarie Poustka; Bärbel Felder; Sabine M Klauck; Claudia Schuster; Fritz Poustka; Sven Bölte; Sabine Feineis-Matthews; Evelyn Herbrecht; Gabi Schmötzer; John Tsiantis; Katerina Papanikolaou; Elena Maestrini; Elena Bacchelli; Francesca Blasi; Simona Carone; Claudio Toma; Herman Van Engeland; Maretha de Jonge; Chantal Kemner; Frederieke Koop; Frederike Koop; Marjolein Langemeijer; Marjolijn Langemeijer; Channa Hijmans; Channa Hijimans; Wouter G Staal; Gillian Baird; Patrick Bolton; Michael L Rutter; Emma Weisblatt; Jonathan Green; Catherine Aldred; Julie-Anne Wilkinson; Andrew Pickles; Ann Le Couteur; Tom Berney; Helen McConachie; Anthony J Bailey; Kostas Francis; Gemma Honeyman; Aislinn Hutchinson; Jeremy R Parr; Simon Wallace; Anthony P Monaco; Gabrielle Barnby; Kazuhiro Kobayashi; Janine A Lamb; Ines Sousa; Nuala Sykes; Edwin H Cook; Stephen J Guter; Bennett L Leventhal; Jeff Salt; Catherine Lord; Christina Corsello; Vanessa Hus; Daniel E Weeks; Fred Volkmar; Maïté Tauber; Eric Fombonne; Andy Shih; Kacie J Meyer
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Nature genetics 2007;39(3):319-28.
2006: Daniel B Campbell; James S Sutcliffe; Philip J Ebert; Roberto Militerni; Carmela Bravaccio; Simona Trillo; Maurizio Elia; Cindy Schneider; Raun Melmed; Roberto Sacco; Antonio M Persico; Pat Levitt
A genetic variant that disrupts MET transcription is associated with autism.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(45):16834-9.
2006: Lauren A Weiss; Gülüm Kosova; Ryan J Delahanty; Lan Jiang; Edwin H Cook; Carole Ober; James S Sutcliffe
Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility.
European journal of human genetics : EJHG 2006;14(8):923-31.
2006: Raquel Rabionet; Jacob McCauley; James M Jaworski; Allison E Ashley-Koch; Eden R Martin; James S Sutcliffe; Jonathan L Haines; G Robert DeLong; Ruth K Abramson; Harry H Wright; Michael Cuccaro; John Gilbert; Margaret Pericak-Vance
Lack of association between autism and SLC25A12.
The American journal of psychiatry 2006;163(5):929-31.
2006: Shaochun Ma; Bassel Abou-Khalil; Marcia A Blair; James S Sutcliffe; Jonathan L Haines; Peter Hedera
Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures.
Neuroscience letters 2006;394(1):74-8.
2005: Harish C Prasad; Chong-Bin Zhu; Jacob McCauley; Devadoss J Samuvel; Sammanda Ramamoorthy; Richard C Shelton; William A Hewlett; James S Sutcliffe; Randy D Blakely
Human serotonin transporter variants display altered sensitivity to protein kinase G and p38 mitogen-activated protein kinase.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(32):11545-50.
2005: James S Sutcliffe; Ryan J Delahanty; Harish C Prasad; Jacob McCauley; Qiao Han; Lan Jiang; Chun Li; Susan E Folstein; Randy D Blakely
Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors.
American journal of human genetics 2005;77(2):265-79.
2005: David A Skaar; Yujun Shao; Jonathan L Haines; J E Stenger; James M Jaworski; Eden R Martin; G Robert DeLong; Jason Moore; Jacob McCauley; James S Sutcliffe; Allison E Ashley-Koch; Michael Cuccaro; Susan E Folstein; John Gilbert; Margaret Pericak-Vance
Analysis of the RELN gene as a genetic risk factor for autism.
Molecular psychiatry 2005;10(6):563-71.
2005: Shaochun Ma; Bassel Abou-Khalil; James S Sutcliffe; Jonathan L Haines; Peter Hedera
The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.
BMC medical genetics 2005;6():13.
2005: Jacob McCauley; Chun Li; Lan Jiang; Lana M Olson; Genea Crockett; Kimberly Gainer; Susan E Folstein; Jonathan L Haines; James S Sutcliffe
Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates.
BMC medical genetics 2005;6():1.
2004: Raquel Rabionet; James M Jaworski; Allison E Ashley-Koch; Eden R Martin; James S Sutcliffe; Jonathan L Haines; G Robert DeLong; Ruth K Abramson; Harry H Wright; Michael Cuccaro; John Gilbert; Margaret Pericak-Vance
Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes.
Neuroscience letters 2004;372(3):209-14.
2004: Jacob McCauley; Lana M Olson; Ryan J Delahanty; Taneem Amin; Erika L Nurmi; Edward L Organ; Michelle M Jacobs; Susan E Folstein; Jonathan L Haines; James S Sutcliffe
A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;131B(1):51-9.
2004: Jacob McCauley; Lana M Olson; Michael Dowd; Taneem Amin; A Steele; Randy D Blakely; Susan E Folstein; Jonathan L Haines; James S Sutcliffe
Linkage and association analysis at the serotonin transporter (SLC6A4) locus in a rigid-compulsive subset of autism.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;127B(1):104-12.
2004: Holli B Hutcheson; Lana M Olson; Yuki Bradford; Susan E Folstein; Susan L Santangelo; James S Sutcliffe; Jonathan L Haines
Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes.
BMC medical genetics 2004;5():12.
2004: Peter Hedera; Bassel Abou-Khalil; Amy E Crunk; Kelly A Taylor; Jonathan L Haines; James S Sutcliffe
Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene.
Epilepsia 2004;45(3):218-22.
2004: Elisabeth M Dykens; James S Sutcliffe; Pat Levitt
Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues.
Mental retardation and developmental disabilities research reviews 2004;10(4):284-91.
2003: Erika L Nurmi; Michael Dowd; Ovsanna Tadevosyan-Leyfer; Jonathan L Haines; Susan E Folstein; James S Sutcliffe
Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11-q13.
Journal of the American Academy of Child and Adolescent Psychiatry 2003;42(7):856-63.
2003: Erika L Nurmi; Taneem Amin; Lana M Olson; Michelle M Jacobs; Jacob McCauley; A Y Lam; Edward L Organ; Susan E Folstein; Jonathan L Haines; James S Sutcliffe
Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism.
Molecular psychiatry 2003;8(6):624-34, 570.
2003: James S Sutcliffe; Michael K Han; Taneem Amin; Robert A Kesterson; Erika L Nurmi
Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures.
BMC genomics 2003;4(1):15.
2003: Holli B Hutcheson; Yuki Bradford; Susan E Folstein; MB Gardiner; Susan L Santangelo; James S Sutcliffe; Jonathan L Haines
Defining the autism minimum candidate gene region on chromosome 7.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2003;117B(1):90-6.
2003: James S Sutcliffe; Erika L Nurmi; Paul J Lombroso
Genetics of childhood disorders: XLVII. Autism, part 6: duplication and inherited susceptibility of chromosome 15q11-q13 genes in autism.
Journal of the American Academy of Child and Adolescent Psychiatry 2003;42(2):253-6.
2003: M Matsumura; T Kubota; E Hidaka; K Wakui; S Kadowaki; I Ueta; T Shimizu; Ichiro Ueno; K Yamauchi; L B Herzing; Erika L Nurmi; James S Sutcliffe; Y Fukushima; T Katsuyama
'Severe' Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation.
Clinical genetics 2003;63(1):79-81.
2001: Bassel Abou-Khalil; Q Ge; R Desai; Robin C C Ryther; A Bazyk; R Bailey; Jonathan L Haines; James S Sutcliffe; Alfred L George
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.
Neurology 2001;57(12):2265-72.
2001: Erika L Nurmi; Yuki Bradford; Yongxiong Chen; J Hall; B Arnone; MB Gardiner; Holli B Hutcheson; John Gilbert; Margaret Pericak-Vance; Susan A Copeland-Yates; Ron C Michaelis; Thomas H Wassink; Susan L Santangelo; Val C Sheffield; Joseph Piven; Susan E Folstein; Jonathan L Haines; James S Sutcliffe
Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families.
Genomics 2001;77(1-2):105-13.
2001: Beth Joseph; Mark Egli; James S Sutcliffe; Travis Thompson
Possible dosage effect of maternally expressed genes on visual recognition memory in Prader-Willi syndrome.
American journal of medical genetics 2001;105(1):71-5.
2000: A Dimitropoulos; Irene D Feurer; Elizabeth Roof; Wendy Stone; Merlin G Butler; James S Sutcliffe; Travis Thompson
Appetitive behavior, compulsivity, and neurochemistry in Prader-Willi syndrome.
Mental retardation and developmental disabilities research reviews 2000;6(2):125-30.
1999: Ping Fang; E Lev-Lehman; Ting-Fen Tsai; Tohru Matsuura; C S Benton; James S Sutcliffe; Susan L Christian; T Kubota; D J Halley; Hanne Meijers-Heijboer; S Langlois; J M Graham; J Beuten; P J Willems; David Ledbetter; Arthur L Beaudet
The spectrum of mutations in UBE3A causing Angelman syndrome.
Human molecular genetics 1999;8(1):129-35.
1998: Susan L Christian; N K Bhatt; S A Martin; James S Sutcliffe; T Kubota; B Huang; A Mutirangura; A C Chinault; Arthur L Beaudet; David Ledbetter
Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb.
Genome research 1998;8(2):146-57.
1997: James S Sutcliffe; M Han; Susan L Christian; David Ledbetter
Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome.
Lancet 1997;350(9090):1520-1.
1997: Urs Albrecht; James S Sutcliffe; Bruce M Cattanach; Colin V Beechey; Dawna Armstrong; Gregor Eichele; Arthur L Beaudet
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons.
Nature genetics 1997;17(1):75-8.
1997: AHM M Huq; James S Sutcliffe; M Nakao; Y Shen; R A Gibbs; Arthur L Beaudet
Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity.
Genome research 1997;7(6):642-8.
1997: James S Sutcliffe; Yong-Hui Jiang; R J Galijaard; Tohru Matsuura; Ping Fang; T Kubota; Susan L Christian; Jan Bressler; Bruce M Cattanach; David Ledbetter; Arthur L Beaudet
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.
Genome research 1997;7(4):368-77.
1997: Tohru Matsuura; James S Sutcliffe; Ping Fang; R J H Galjaard; Yong-Hui Jiang; C S Benton; J M Rommens; Arthur L Beaudet
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.
Nature genetics 1997;15(1):74-7.
1996: T Kubota; James S Sutcliffe; S Aradhya; G Gillessen-Kaesbach; Susan L Christian; Bernhard Horsthemke; Arthur L Beaudet; David Ledbetter
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.
American journal of medical genetics 1996;66(1):77-80.
1996: Yi Ning; A Roschke; Susan L Christian; J Lesser; James S Sutcliffe; David Ledbetter
Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region.
Genome research 1996;6(8):742-6.
1996: Yoshihiro Jinno; Kazuo Sengoku; M Nakao; Kenichi Tamate; Toshinobu Miyamoto; T Matsuzaka; James S Sutcliffe; T Anan; N Takuma; K Nishiwaki; Y Ikeda; T Ishimaru; Mutsuo Ishikawa; Norio Niikawa
Mouse/human sequence divergence in a region with a paternal-specific methylation imprint at the human H19 locus.
Human molecular genetics 1996;5(8):1155-61.
1996: J Beuten; James S Sutcliffe; B M Casey; Arthur L Beaudet; Raoul Hennekam; Patrick J Willems
Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN.
American journal of medical genetics 1996;63(2):414-5.
1996: J Beuten; Raoul Hennekam; B Van Roy; Kathelijne Mangelschots; James S Sutcliffe; D J J Halley; F A Hennekam; Arthur L Beaudet; Patrick J Willems
Angelman syndrome in an inbred family.
Human genetics 1996;97(3):294-8.
1996: M Nakao; James S Sutcliffe; Arthur L Beaudet
Advantages of RT-PCR and denaturing gradient gel electrophoresis for analysis of genomic imprinting: detection of new mouse and human expressed polymorphisms.
Human mutation 1996;7(2):144-8.
1995: P H Gunaratne; M Nakao; David Ledbetter; James S Sutcliffe; A Craig Chinault
Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region.
Genes & development 1995;9(7):808-20.
1994: James S Sutcliffe; M Nakao; Susan L Christian; K H Orstavik; Niels Tommerup; David Ledbetter; Arthur L Beaudet
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.
Nature genetics 1994;8(1):52-8.
1994: M Nakao; James S Sutcliffe; B Durtschi; A Mutirangura; David Ledbetter; Arthur L Beaudet
Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).
Human molecular genetics 1994;3(2):309-15.
1993: A Mutirangura; A Jayakumar; James S Sutcliffe; M Nakao; M J McKinney; Karin Buiting; Bernhard Horsthemke; Arthur L Beaudet; A Craig Chinault; David Ledbetter
A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.
Genomics 1993;18(3):546-52.
1993: C T Ashley; James S Sutcliffe; C B Kunst; H A Leiner; Evan E Eichler; David L Nelson; Stephen Warren
Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat.
Nature genetics 1993;4(3):244-51.
1993: H L Hinds; C T Ashley; James S Sutcliffe; David L Nelson; Stephen Warren; David E Housman; Martin Schalling
Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome.
Nature genetics 1993;3(1):36-43.
1992: James S Sutcliffe; David L Nelson; F Zhang; M Pieretti; CT Caskey; D Saxe; Stephen Warren
DNA methylation represses FMR-1 transcription in fragile X syndrome.
Human molecular genetics 1992;1(6):397-400.
1992: James S Sutcliffe; F Zhang; CT Caskey; David L Nelson; Stephen Warren
PCR amplification and analysis of yeast artificial chromosomes.
Genomics 1992;13(4):1303-6.
1992: Gregory J Riggins; Stephanie L Sherman; Ben A Oostra; James S Sutcliffe; D Feitell; David L Nelson; B A van Oost; A P Smits; F J Ramos; E Pfendner
Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site.
American journal of medical genetics 1992;43(1-2):237-43.
1991: Y H Fu; D P Kuhl; Antonio Pizzuti; M Pieretti; James S Sutcliffe; S Richards; A J Verkerk; Jeanette J A Holden; R G Fenwick; Stephen Warren
Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.
Cell 1991;67(6):1047-58.
1991: A J Verkerk; M Pieretti; James S Sutcliffe; Y H Fu; D P Kuhl; Antonio Pizzuti; O Reiner; S Richards; M F Victoria; F P Zhang
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
Cell 1991;65(5):905-14.
1988: Stephen Warren; F P Zhang; James S Sutcliffe; J F Peters
Strategy for molecular cloning of the fragile X site DNA.
American journal of medical genetics 1988;30(1-2):613-23.