Marisa I. Mendes

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Marisa I. Mendes, Mariana Salazar, Kether Guerrero et al. · The American Journal of Human Genetics · 2018 · 89 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

Lu Wang, Zhen Li, David Sievert et al. · Nature Communications · 2020 · 87 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype

Arjan F. Theil, Elena Botta, Anja Raams et al. · The American Journal of Human Genetics · 2019 · 64 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Andreea Manole, Stéphanie Efthymiou, Emer O’Connor et al. · The American Journal of Human Genetics · 2020 · 64 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

Molly E. Kuo, Arjan F. Theil, Anneke J.A. Kievit et al. · The American Journal of Human Genetics · 2019 · 57 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16