Sarah Servattalab

Somatic Mutations in Cerebral Cortical Malformations

Saumya Shekhar Jamuar, Anh-Thu N. Lam, Martin Kircher et al. · New England Journal of Medicine · 2014 · 394 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

Xiaochang Zhang, Jiqiang Ling, Giulia Barcia et al. · The American Journal of Human Genetics · 2014 · 136 citations · Full text

Life Sciences, Genetics, Neuroscience +11

Socioeconomic and Racial and/or Ethnic Disparities in Multisystem Inflammatory Syndrome

Karina Javalkar, Victoria Robson, Lukas K. Gaffney et al. · PEDIATRICS · 2021 · 86 citations · Full text

Public Health, Child Health, Pediatrics +17

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

Tojo Nakayama, Almundher Al‐Maawali, Malak El‐Quessny et al. · The American Journal of Human Genetics · 2015 · 80 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Biallelic mutations in human DCC cause developmental split-brain syndrome

Saumya Shekhar Jamuar, Klaus Schmitz‐Abe, Alissa M. D’Gama et al. · Nature Genetics · 2017 · 79 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12