Dianne Abuelo

Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

Dong-Chuan Guo, Hariyadarshi Pannu, Van Tran‐Fadulu et al. · Nature Genetics · 2007 · 846 citations

Medicine, Cardiology, Surgery +14

Permanent Neonatal Diabetes due to Mutations in <i>KCNJ11</i> Encoding Kir6.2

Jørn V. Sagen, Helge Ræder, Eba Hathout et al. · Diabetes · 2004 · 334 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Familial Thoracic Aortic Aneurysms and Dissections

Dongchuan Guo, Sumera N. Hasham, Shao-Qing Kuang et al. · Circulation · 2001 · 219 citations

Life Sciences, Genetics, Molecular Genetics +12

Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of <i>MECP2</i> and Adjacent Region in Xq28

Michael J. Friez, Julie R. Jones, Katie Clarkson et al. · PEDIATRICS · 2006 · 190 citations

Life Sciences, Genetics, Molecular Genetics +17

Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.

Simonida Gencic, Dianne Abuelo, M Ambler et al. · PubMed · 1989 · 166 citations

Life Sciences, Genetics, Neurology +17