Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Jenny Lord, Dominic McMullan, Ruth Y. Eberhardt et al. · The Lancet · 2019 · 708 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Guidelines for case classification for the national birth defects prevention study

Sonja A. Rasmussen, Richard S. Olney, Lewis B. Holmes et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 2003 · 580 citations

Public Health, Genetics, Pediatrics +11

Agenesis of the corpus callosum in California 1983–2003: A population‐based study

Hannah C. Glass, Gary M. Shaw, Chen Ma et al. · American Journal of Medical Genetics Part A · 2008 · 254 citations · Full text

Medicine, Maternal Health, Pediatrics +17

Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients

Chayim Schell-Apacik, Kristina Wagner, Moritz Bihler et al. · American Journal of Medical Genetics Part A · 2008 · 199 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17