De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

Excess of rare, inherited truncating mutations in autism

Niklas Krumm, Tychele N. Turner, Carl Baker et al. · Nature Genetics · 2015 · 635 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Francesca Pasutto, Heinrich Sticht, G. Hammersen et al. · The American Journal of Human Genetics · 2007 · 359 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Jaw and branchial arch mutants in zebrafish I: branchial arches

Thomas F. Schilling, Tatjana Piotrowski, Heiner Grandel et al. · Development · 1996 · 335 citations

Life Sciences, Anatomy, Developmental Biology +17

Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation

Agatino Battaglia, H. Eugene Hoyme, Bruno Dallapiccola et al. · PEDIATRICS · 2008 · 310 citations

Life Sciences, Genetics, Pediatrics +17

Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome

Heidi A. Heilstedt, Blake C. Ballif, L A Howard et al. · The American Journal of Human Genetics · 2003 · 296 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12