Jaya Ganesh

Molecular and clinical genetics of mitochondrial diseases due to<i>POLG</i>mutations

Lee-Jun Wong, Robert K. Naviaux, Nicola Brunetti‐Pierri et al. · Human Mutation · 2008 · 291 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.

Sara Shanske, Jorida Çoku, Jiesheng Lu et al. · PubMed · 2008 · 125 citations

Life Sciences, Genetics, Molecular Genetics +14

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene

Belén Bornstein, Estela Área-Gómez, Kevin M. Flanigan et al. · Neuromuscular Disorders · 2008 · 105 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari et al. · Human Mutation · 2015 · 89 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

Björn Fischer‐Zirnsak, Nathalie Escande‐Beillard, Jaya Ganesh et al. · The American Journal of Human Genetics · 2015 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5