CE Schwartz

Mapping of Alport syndrome to the long arm of the X chromosome.

Curtis L. Atkin, Sandra J. Hasstedt, L.A. Menlove et al. · PubMed · 1988 · 127 citations

A novel mutation in the <i>PHF8 </i>gene is associated with X‐linked mental retardation with cleft lip/cleft palate

FE Abidi, JC Murray, CE Schwartz · Clinical Genetics · 2007 · 101 citations · Full text

Genetics, Molecular Biology, Molecular Genetics +19

Two percent of patients suspected of having Angelman syndrome have <i>TCF4</i> mutations

Kyoko Takano, Michael J. Lyons, C. D. Moyes et al. · Clinical Genetics · 2010 · 88 citations

Non‐syndromic X‐linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene

R. David Lebel, Melanie May, S Pouls et al. · Clinical Genetics · 2002 · 73 citations · Full text

OPD-spectrum Disorders Clinical Collaborative Group. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Sp Robertson, Twigg, AJ Sutherland-Smith et al. · Lirias (KU Leuven) · 2003 · 40 citations