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American Journal of Human Genetics|October 27, 2020
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research StudiesLaura M Amendola, Kathleen Muenzen, Leslie G Biesecker, et al.Clinical Genetics|June 19, 2023
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq programKatherine E Bonini, Amanda Thomas-Wilson, Priya N Marathe, et al.Journal of the Endocrine Society|June 8, 2026
Genome sequencing identifies monogenic causes in adults with metabolic diseasesVolkan Okur, Amanda Marcus, John N Falcone, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 5, 2019
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert PanelJun Shen, Andrea M Oza, Ignacio Del Castillo, et al.JAMA Psychiatry|January 18, 2013
Implication of a rare deletion at distal 16p11.2 in schizophreniaSaurav Guha, Elliott Rees, Ariel Darvasi, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 9, 2015
Independent evidence for an association between general cognitive ability and a genetic locus for educational attainmentJoey W Trampush, Todd Lencz, Emma Knowles, et al.Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.Pageof 4