Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.

Autor: 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.

Publikováno v: 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.

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

Autor: Patel MJ; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., DiStefano MT; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Precision Health Program, Geisinger, Danville, PA, USA., Oza AM; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, MA, USA., Hughes MY; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wilcox EH; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hemphill SE; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA., Cushman BJ; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA., Grant AR; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Siegert RK; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Shen J; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Chapin A; ARUP Laboratories, Salt Lake City, UT, USA., Boczek NJ; Department of Laboratory Medicine & Pathology, Mayo Clinic, Rochester, MN, USA., Schimmenti LA; Department of Otorhinolaryngology, Clinical Genomics and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Nara K; Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan., Kenna M; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, IA, USA., Booth KT; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, IA, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA, USA., Avraham KB; Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel., Kremer H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Griffith AJ; Department of Otolaryngology Head-Neck Surgery, College of Medicine, The University of Tennessee Health Science Center, Memphis, TN, USA., Rehm HL; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA., Amr SS; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Tayoun ANA; Al Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. Ahmad.Tayoun@ajch.ae.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates. Ahmad.Tayoun@ajch.ae.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2208-2212. Date of Electronic Publication: 2021 Jul 06.