Aisha M. Al Shamsi

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

Claire Guissart, Xénia Latypova, Paul Rollier et al. · The American Journal of Human Genetics · 2018 · 81 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Jing Zhang, Tomasz Gambin, Bo Yuan et al. · Human Genetics · 2017 · 63 citations

Life Sciences, Genetics, Molecular Genetics +17

Biallelic <i>MED27</i> variants lead to variable ponto-cerebello-lental degeneration with movement disorders

Reza Maroofian, Rauan Kaiyrzhanov, Elisa Calì et al. · Brain · 2023 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Expanding the clinical and genetic spectra of <i>NKX6‐2</i>‐related disorder

Caterina Baldi, Aida M. Bertoli‐Avella, Nouriya Al‐Sannaa et al. · Clinical Genetics · 2018 · 14 citations

Life Sciences, Genetics, Neurology +17

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

Pablo Iruzubieta, Cesar Alves, Aisha M. Al Shamsi et al. · EBioMedicine · 2024 · 12 citations · Full text

Life Sciences, Genetics, Neurology +17