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Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Riggs, Erin Rooney; Bingaman, Taylor I; Barry, Carrie-Ann; Behlmann, Andrea; Bluske, Krista; Bostwick, Bret; Bright, Alison; Chen, Chun-An; Clause, Amanda R; Dharmadhikari, Avinash V; Ganapathi, Mythily; Gonzaga-Jauregui, Claudia; Grant, Andrew R; Hughes, Madeline Y; Kim, Se Rin; Krause, Amanda; Liao, Jun; Lumaka, Aimé; Mah, Michelle; Maloney, Caitlin M; Mohan, Shruthi; Osei-Owusu, Ikeoluwa A; Reble, Emma; Rennie, Olivia; Savatt, Juliann M; Shimelis, Hermela; Siegert, Rebecca K; Sneddon, Tam P; Thaxton, Courtney; Toner, Kelly A; Tran, Kien Trung; Webb, Ryan; Wilcox, Emma H; Yin, Jiani; Zhuo, Xinming; Znidarsic, Masa; Martin, Christa Lese; Betancur, Catalina; Vorstman, Jacob A S; Miller, David T; Schaaf, Christian P.
Afiliação
  • Riggs ER; Autism & Developmental Medicine Institute, Geisinger, Danville, PA. Electronic address: eriggs@geisinger.edu.
  • Bingaman TI; Autism & Developmental Medicine Institute, Geisinger, Danville, PA.
  • Barry CA; Drexel University College of Medicine, Philadelphia, PA.
  • Behlmann A; Invitae, San Francisco, CA.
  • Bluske K; Illumina, Inc, San Diego, CA.
  • Bostwick B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Bright A; Natera, San Carlos, CA.
  • Chen CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Clause AR; Illumina, Inc, San Diego, CA.
  • Dharmadhikari AV; Department of Pathology and Laboratory Medicine, Children's Hospital of Los Angeles, Los Angeles, CA; Keck School of Medicine, University of Southern California, Los Angeles, CA.
  • Ganapathi M; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY.
  • Gonzaga-Jauregui C; Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Querétaro, Mexico.
  • Grant AR; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; New York Medical College, Valhalla, NY.
  • Hughes MY; University of Illinois Chicago, Chicago, IL.
  • Kim SR; National Human Genome Research Institute, Bethesda, MD.
  • Krause A; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
  • Liao J; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY.
  • Lumaka A; Laboratoire de Génétique Humaine, University of Liège, Liège, Belgium.
  • Mah M; Trillium Health Partners, Mississauga, Ontario, Canada.
  • Maloney CM; University of Washington, Seattle, WA.
  • Mohan S; University of North Carolina, Chapel Hill, NC.
  • Osei-Owusu IA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
  • Reble E; St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
  • Rennie O; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Savatt JM; Autism & Developmental Medicine Institute, Geisinger, Danville, PA.
  • Shimelis H; Autism & Developmental Medicine Institute, Geisinger, Danville, PA.
  • Siegert RK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
  • Sneddon TP; Department of Pathology and Laboratory Medicine, School of Medicine, The University of North Carolina, Chapel Hill, NC.
  • Thaxton C; Department of Pathology and Laboratory Medicine, School of Medicine, The University of North Carolina, Chapel Hill, NC.
  • Toner KA; Drexel University College of Medicine, Philadelphia, PA.
  • Tran KT; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
  • Webb R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
  • Wilcox EH; The Warren Alpert Medical School of Brown University, Providence, RI.
  • Yin J; Department of Neurology, University of California Los Angeles, Los Angeles, CA.
  • Zhuo X; The Jackson Laboratory for Genomic Medicine, Farmington, CT.
  • Znidarsic M; University Medical Center Ljubljana, Ljubljana, Slovenia.
  • Martin CL; Autism & Developmental Medicine Institute, Geisinger, Danville, PA.
  • Betancur C; Sorbonne Université, INSERM, CNRS, Neuroscience Paris Seine, Institut de Biologie Paris Seine, Paris, France.
  • Vorstman JAS; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Miller DT; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.
  • Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Institute of Human Genetics, Heidelberg University Hospital, Heidelberg, Germany.
Genet Med ; 24(9): 1899-1908, 2022 09.
Article em En | MEDLINE | ID: mdl-35616647
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno Autístico / Transtornos do Neurodesenvolvimento / Transtorno do Espectro Autista / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno Autístico / Transtornos do Neurodesenvolvimento / Transtorno do Espectro Autista / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article