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Arthur L. Beaudet
Researcher at Baylor College of Medicine
Publications - 409
Citations - 49816
Arthur L. Beaudet is an academic researcher from Baylor College of Medicine. The author has contributed to research in topics: Angelman syndrome & Gene. The author has an hindex of 111, co-authored 404 publications receiving 45860 citations. Previous affiliations of Arthur L. Beaudet include University of Virginia & Johns Hopkins University School of Medicine.
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Journal ArticleDOI
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang,Donna M. Muzny,Jeffrey G. Reid,Matthew N. Bainbridge,Alecia Willis,Patricia A. Ward,Alicia Braxton,Joke Beuten,Fan Xia,Zhiyv Niu,Matthew T. Hardison,Richard E. Person,Mir Reza Bekheirnia,Magalie S. Leduc,Amelia Kirby,Peter Pham,Jennifer Scull,Min Wang,Yan Ding,Sharon E. Plon,James R. Lupski,Arthur L. Beaudet,Richard A. Gibbs,Christine M. Eng +23 more
TL;DR: W whole-exome sequencing identified the underlying genetic defect in 25% of consecutive patients referred for evaluation of a possible genetic condition.
Journal ArticleDOI
The NIH Roadmap Epigenomics Mapping Consortium
Bradley E. Bernstein,John A. Stamatoyannopoulos,Joseph F. Costello,Bing Ren,Aleksandar Milosavljevic,Alexander Meissner,Manolis Kellis,Marco A. Marra,Arthur L. Beaudet,Joseph R. Ecker,Peggy J. Farnham,Martin Hirst,Eric S. Lander,Tarjei S. Mikkelsen,James A. Thomson +14 more
TL;DR: The NIH Roadmap Epigenomics Mapping Consortium aims to produce a public resource of epigenomic maps for stem cells and primary ex vivo tissues selected to represent the normal counterparts of tissues and organ systems frequently involved in human disease.
Journal ArticleDOI
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
Harry T. Orr,Ming Yi Chung,Sandro Banfi,Thomas J. Kwiatkowski,Antonio Servadio,Arthur L. Beaudet,Alanna E. McCall,Lisa A. Duvick,Laura P.W. Ranum,Huda Y. Zoghbi +9 more
TL;DR: There is a direct correlation between the size of the (CAG)n repeat expansion and the age–of–onset of SCA1, with larger alleles occurring in juvenile cases.
Journal ArticleDOI
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
Stephen Sanders,A. Gulhan Ercan-Sencicek,Vanessa Hus,Rui Luo,Michael T. Murtha,Daniel Moreno-De-Luca,Su H. Chu,Michael P. Moreau,Abha R. Gupta,Susanne Thomson,Christopher E. Mason,Kaya Bilguvar,Patrícia B. S. Celestino-Soper,Murim Choi,Emily L. Crawford,Lea K. Davis,Nicole R. Davis Wright,Rahul M. Dhodapkar,Michael DiCola,Nicholas M. DiLullo,Thomas V. Fernandez,Vikram Fielding-Singh,Daniel O. Fishman,Stephanie Frahm,Rouben Garagaloyan,Gerald Goh,Sindhuja Kammela,Lambertus Klei,Jennifer K. Lowe,Sabata C. Lund,Anna D. McGrew,Kyle A. Meyer,William J. Moffat,John D. Murdoch,Brian J. O'Roak,Gordon T. Ober,Rebecca S. Pottenger,Melanie J. Raubeson,Youeun Song,Qi Wang,Brian L. Yaspan,Timothy W. Yu,Ilana R. Yurkiewicz,Arthur L. Beaudet,Rita M. Cantor,Martin Curland,Dorothy E. Grice,Murat Gunel,Richard P. Lifton,Shrikant Mane,Donna M. Martin,Chad A. Shaw,Michael Sheldon,Jay A. Tischfield,Christopher A. Walsh,Eric M. Morrow,David H. Ledbetter,Eric Fombonne,Catherine Lord,Christa Lese Martin,Andrew Brooks,James S. Sutcliffe,Edwin H. Cook,Daniel H. Geschwind,Kathryn Roeder,Bernie Devlin,Matthew W. State +66 more
TL;DR: A genome-wide analysis of rare copy-number variation in 1124 autism spectrum disorder families, each comprised of a single proband, unaffected parents, and, in most kindreds, an unaffected sibling, finds significant association of ASD with de novo duplications of 7q11.23, where the reciprocal deletion causes Williams-Beuren syndrome.
Journal ArticleDOI
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
Stephen Sanders,Xin He,A. Jeremy Willsey,A. Gulhan Ercan-Sencicek,Kaitlin E. Samocha,Kaitlin E. Samocha,A. Ercument Cicek,A. Ercument Cicek,Michael T. Murtha,Vanessa H. Bal,Somer L. Bishop,Shan Dong,Arthur P. Goldberg,Cai Jinlu,John F. Keaney,Lambertus Klei,Jeffrey D. Mandell,Daniel Moreno-De-Luca,Christopher S. Poultney,Elise B. Robinson,Elise B. Robinson,Louw Smith,Tor Solli-Nowlan,Mack Y. Su,Nicole A. Teran,Michael F. Walker,Donna M. Werling,Arthur L. Beaudet,Rita M. Cantor,Eric Fombonne,Daniel H. Geschwind,Dorothy E. Grice,Catherine Lord,Jennifer K. Lowe,Shrikant Mane,Donna M. Martin,Eric M. Morrow,Michael E. Talkowski,James S. Sutcliffe,Christopher A. Walsh,Timothy W. Yu,David H. Ledbetter,Christa Lese Martin,Edwin H. Cook,Joseph D. Buxbaum,Mark J. Daly,Mark J. Daly,Bernie Devlin,Kathryn Roeder,Matthew W. State +49 more
TL;DR: Analysis of de novo CNVs from the full Simons Simplex Collection replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci, including 6 CNV regions.