Sarah Dyack

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man

Karin Tuschl, Peter T. Clayton, Sídney M. Gospe et al. · The American Journal of Human Genetics · 2012 · 374 citations · Full text

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

Jan Kazenwadel, Genevieve A. Secker, Yajuan J. Liu et al. · Blood · 2011 · 276 citations · Full text

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

Duane L. Guernsey, Haiyan Jiang, Dean R. Campagna et al. · Nature Genetics · 2009 · 243 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

Dongchuan Guo, Ellen S. Regalado, Darren E. Casteel et al. · The American Journal of Human Genetics · 2013 · 241 citations · Full text

Developmental Biology, Recurrent Gain-of-function Mutation, Acute Aortic Dissections +4

In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients

Nicolas Sylvius, Zofia T. Bilińska, John P. Veinot et al. · Journal of Medical Genetics · 2005 · 100 citations · Full text