De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.

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Title: De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.
Authors: Niehaus AD; Division of Medical Genetics, Department of Pediatrics, Stanford School of Medicine, Stanford, California, USA., Bonner DE; Division of Medical Genetics, Department of Pediatrics, Stanford School of Medicine, Stanford, California, USA., Carter J; Division of Medical Genetics, Department of Pediatrics, Stanford School of Medicine, Stanford, California, USA., Avello K; PreventionGenetics LLC, Part of Exact Sciences, Marshfield, Wisconsin, USA., Jacob N; PreventionGenetics LLC, Part of Exact Sciences, Marshfield, Wisconsin, USA., Neu MB; Division of Medical Genetics, Department of Pediatrics, Stanford School of Medicine, Stanford, California, USA.; Division of Cardiovascular Medicine, Department of Medicine, Stanford University, Stanford, California, USA., Mendez R; Division of Cardiovascular Medicine, Department of Medicine, Stanford University, Stanford, California, USA., Qiao W; Department of Pathology, Stanford Medicine Clinical Genomics Laboratory, Stanford School of Medicine, Stanford, California, USA., Scott SA; Department of Pathology, Stanford Medicine Clinical Genomics Laboratory, Stanford School of Medicine, Stanford, California, USA., Levy RJ; Division of Child Neurology, Department of Neurology and Neurological Sciences, Stanford School of Medicine, Stanford, California, USA., Mattas L; Division of Child Neurology, Department of Neurology and Neurological Sciences, Stanford School of Medicine, Stanford, California, USA., Schymick J; Division of Genetics, Santa Clara Valley Healthcare, San Jose, California, USA., Van Andel M; Division of Genetics, Santa Clara Valley Healthcare, San Jose, California, USA., Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK., Mueller J; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK., Sarkozy A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK., DiTroia S; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., O'Leary M; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Neale A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., O'Donnell-Luria A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Toro C; National Institutes of Health, National Human Genome Research Institute, Undiagnosed Diseases Program, Bethesda, Maryland, USA., Wolfe LA; National Institutes of Health, National Human Genome Research Institute, Undiagnosed Diseases Program, Bethesda, Maryland, USA., Martinez-Agosto JA; Departments of Human Genetics, Pediatrics and Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, California, USA., Montgomery SB; Department of Pathology, Stanford Medicine Clinical Genomics Laboratory, Stanford School of Medicine, Stanford, California, USA.; Department of Genetics, Stanford School of Medicine, Stanford, California, USA.; Department of Biomedical Data Science, Stanford School of Medicine, Stanford, California, USA., Wheeler MT; Division of Cardiovascular Medicine, Department of Medicine, Stanford University, Stanford, California, USA., Bernstein JA; Division of Medical Genetics, Department of Pediatrics, Stanford School of Medicine, Stanford, California, USA., Tise CG; Division of Medical Genetics, Department of Pediatrics, Stanford School of Medicine, Stanford, California, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Apr 19. Date of Electronic Publication: 2026 Apr 19.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1552-4833
DOI:10.1002/ajmg.a.70162