Arthur W. Grix

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber et al. · The American Journal of Human Genetics · 2012 · 216 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28

Laurent Villard, Karine Nguyen, Carlos Cardoso et al. · The American Journal of Human Genetics · 2002 · 121 citations · Full text

Life Sciences, Genetics, Molecular Genetics +3

Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting

Irfan Saadi, Fowzan S. Alkuraya, Stephen S. Gisselbrecht et al. · The American Journal of Human Genetics · 2011 · 95 citations · Full text

Dentistry, Genetics, Molecular Biology +14

OA1 Mutations and Deletions in X-Linked Ocular Albinism

Rhonda E. Schnur, Mei Gao, Penelope A. Wick et al. · The American Journal of Human Genetics · 1998 · 64 citations · Full text

Medicine, Genetics, Ophthalmology +14

Identification of 34 novel and 56 known<i>FOXL2</i>mutations in patients with blepharophimosis syndrome

Diane Beysen, Sarah De Jaegere, David J. Amor et al. · Human Mutation · 2008 · 54 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16