IRF2BPL Is Associated with Neurological PhenotypesPaul C. Marcogliese, Wim Terryn, Vandana Shashi et al.|The American Journal of Human Genetics|2018Cited by 115
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseasesLoren D.M. Peña, Lorraine Potocki, Jennifer A. Sullivan et al.|Genetics in Medicine|2017Cited by 52
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Sureni V. Mullegama, Linyan Meng et al.|The American Journal of Human Genetics|2017Cited by 51