المؤلفون: Chopra, Maya, Savatt, Juliann, Bingaman, Taylor, Good, Molly, Morgan, Alexis, Cooney, Caitlin, Rossel, Allison, VanHoute, Bryanna, Cordova, Ineke, Mahida, Sonal, Lanzotti, Virginia, Baldridge, Dustin, Gurnett, Christina, Piven, Joseph, Hazlett, Heather, Pomeroy, Scott, Sahin, Mustafa, Payne, Philip, Riggs, Erin, Constantino, John

المصدر: Genetics in Medicine. 26(3)

مصطلحات موضوعية: Autism, Gene curation, Intellectual disability, Neurodevelopmental disorders, Variant of uncertain significance, Humans, Genetic Variation, Databases, Genetic, Genetic Testing, Phenotype, Brain

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8k68d1b9

المؤلفون: Gropman, A., Smith-Hicks, C.L., Neul, J., Agosto, J.A. Martinez, German, K., Izumi, K., Abbeduto, L., Dawalt, L., Wangler, M., Wasserstein, M., Storch, Eric A., Cohen, J.S., Samaco, R., Molholm, S., Shankar, S., Srivastava, S., Walkley, S., Sveden, A., Dies, K., Gupta, Aditi, Oh, Inez, Hauck, Rachel, Chopra, Maya, Savatt, Juliann M., Bingaman, Taylor I., Good, Molly E., Morgan, Alexis, Cooney, Caitlin, Rossel, Allison M., VanHoute, Bryanna, Cordova, Ineke, Mahida, Sonal, Lanzotti, Virginia, Baldridge, Dustin, Gurnett, Christina A., Piven, Joseph, Hazlett, Heather, Pomeroy, Scott L., Sahin, Mustafa, Payne, Philip R.O., Riggs, Erin Rooney, Constantino, John N.

المصدر: In Genetics in Medicine March 2024 26(3)

المؤلفون: 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 Zola, 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

المصدر: Genetics in Medicine (2022-05-25)

مصطلحات موضوعية: Autism, ClinGen, Gene–disease validity, Intellectual disability, Neurodevelopmental disorders, Genetics (clinical), Life sciences, Genetics & genetic processes, Human health sciences, Laboratory medicine & medical technology, Sciences du vivant, Génétique & processus génétiques, Sciences de la santé humaine, Médecine de laboratoire & technologie médicale

Relation: https://api.elsevier.com/content/article/PII:S1098360022007560?httpAccept=text/xml; urn:issn:1098-3600; urn:issn:1530-0366

URL الوصول: https://orbi.uliege.be/handle/2268/292913

المؤلفون: Chopra, Maya, Savatt, Juliann M., Bingaman, Taylor I., Good, Molly E., Morgan, Alexis, Cooney, Caitlin, Rossel, Allison M., VanHoute, Bryanna, Cordova, Ineke, Mahida, Sonal, Lanzotti, Virginia, Baldridge, Dustin, Gurnett, Christina A., Piven, Joseph, Hazlett, Heather, Pomeroy, Scott L., Sahin, Mustafa, Payne, Philip R.O., Riggs, Erin Rooney, Constantino, John N., Gropman, A., Smith-Hicks, C.L., Neul, J., Agosto, J.A. Martinez-, German, K., Izumi, K., Abbeduto, L., Dawalt, L., Wangler, M., Wasserstein, M., Storch, Eric A., Cohen, J.S., Samaco, R., Molholm, S., Shankar, S., Srivastava, S., Walkley, S., Sveden, A., Dies, K., Gupta, Aditi, Oh, Inez, Hauck, Rachel

المصدر: Genetics in Medicine; 20230101, Issue: Preprints

المؤلفون: 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.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Sep; Vol. 24 (9), pp. 1899-1908. Date of Electronic Publication: 2022 May 26.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Autism Spectrum Disorder*/diagnosis , Autism Spectrum Disorder*/genetics , Autistic Disorder*/diagnosis , Autistic Disorder*/genetics , Intellectual Disability*/diagnosis , Intellectual Disability*/genetics , Neurodevelopmental Disorders*/genetics, Humans