Fatima Rahman

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

Danai Bem, Shin‐ichiro Yoshimura, Ricardo Bastos et al. · The American Journal of Human Genetics · 2011 · 175 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

Manju A. Kurian, Esther Meyer, Grace Vassallo et al. · Brain · 2010 · 104 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia

Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni et al. · Brain · 2021 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

Thi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio et al. · The American Journal of Human Genetics · 2020 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

Evin M. Padhi, Tristan J. Hayeck, Sumantra Chatterjee et al. · Human Genomics · 2021 · 35 citations · Full text

Medicine, Genetics, Molecular Genetics +16