Aisha Al Shamsi

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

Xia Wang, Wu‐Lin Charng, Chun‐An Chen et al. · Nature Genetics · 2017 · 77 citations · Full text

Medicine, Genetics, Molecular Genetics +17

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

Mohammad K. Eldomery, Zeynep Coban‐Akdemir, F.‐Nora Vögtle et al. · Genome Medicine · 2016 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

Francesco Vetrini, Shane McKee, Jill A. Rosenfeld et al. · Genome Medicine · 2019 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy

Myriam Srour, Noriaki Shimokawa, Fadi F. Hamdan et al. · The American Journal of Human Genetics · 2017 · 40 citations · Full text

Medicine, Neurology, Neuroscience +14

PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies

Ahmed H. Al-Amri, Paul Armstrong, Mascia Amici et al. · Biological Psychiatry · 2022 · 29 citations · Full text

Life Sciences, Genetics, Neuroscience +17