Mara Sifry-Platt

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

David Dimmock, Q. Zhang, Carlo Dionisi‐Vici et al. · Human Mutation · 2008 · 169 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

Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit II

Lee-Jun Wong, Pu Dai, Duan‐Jun Tan et al. · American Journal of Medical Genetics · 2001 · 33 citations

Life Sciences, Genetics, Molecular Biology +15

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis

Ganka V. Douglas, Joanna Wiszniewska, Mark Lipson et al. · Journal of Human Genetics · 2011 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Thanatophoric dysplasia type I with syndactyly

Steven G. Brodie, Hiroshi Kitoh, Mark Lipson et al. · American Journal of Medical Genetics · 1998 · 20 citations

Dentistry, Genetics, Molecular Genetics +16