selected publications
- Human mutations in SLITRK3 implicated in GABAergic synapse development in mice. Frontiers in molecular neuroscience. 2024 Academic Article GET IT
- A multi-stem cell basis for craniosynostosis and calvarial mineralization. Nature. 2023 Academic Article GET IT
- ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks. Human molecular genetics. 2023 Academic Article GET IT
- The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. American journal of human genetics. 2023 Academic Article GET IT
- Dystonia phenomenology and treatment response in migraine. Headache. 2023 Academic Article GET IT
- Adult-onset Niemann-Pick disease type C masquerading as spinocerebellar ataxia. Molecular genetics & genomic medicine. 2022 Academic Article GET IT
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain : a journal of neurology.
2020
Academic Article
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Times cited: 46 -
Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar.
Human molecular genetics.
2019
Academic Article
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Times cited: 2 -
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.
Neurogenetics.
2019
Academic Article
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Times cited: 14 -
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Human mutation.
2019
Academic Article
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Times cited: 56 -
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.
Human genetics.
2015
Academic Article
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Times cited: 107 -
It's a small world: fusion of cultures in genetic counseling.
Journal of genetic counseling.
2012
Academic Article
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Times cited: 3 - Adult-onset Niemann–Pick disease type C masquerading as spinocerebellar ataxia. Article