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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2017
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseasesLoren D M Pena, Yong-Hui Jiang, Kelly Schoch, et al.American Journal of Human Genetics|January 31, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Linyan Meng, Szabolcs Szelinger, et al.American Journal of Human Genetics|July 31, 2018
IRF2BPL Is Associated with Neurological PhenotypesPaul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.Pageof 3