selected publications
- 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
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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
American journal of human genetics.
2023
Academic Article
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Times cited: 15 -
Dystonia phenomenology and treatment response in migraine.
Headache.
2023
Academic Article
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Times cited: 1 - Adult-onset Niemann-Pick disease type C masquerading as spinocerebellar ataxia. Molecular genetics & genomic medicine. 2022 Academic Article GET IT
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CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
2021
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Times cited: 2 -
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: 28 -
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: 4 -
McLeod syndrome: Five new pedigrees with novel mutations.
2019
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Times cited: 7 -
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.
Neurogenetics.
2019
Academic Article
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Times cited: 12 -
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: 42 -
Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.
2017
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Times cited: 19 -
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: 137 - Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder. 2014 GET IT
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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