Lakhani, Shenela

Publications

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selected publications

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. American journal of human genetics. 2025 Article GET IT
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures. Genetics in medicine : official journal of the American College of Medical Genetics. 2024 Academic Article GET IT
Times cited: 6
Human mutations in SLITRK3 implicated in GABAergic synapse development in mice. Frontiers in molecular neuroscience. 2024 Academic Article GET IT
Times cited: 3
A multi-stem cell basis for craniosynostosis and calvarial mineralization. Nature. 2023 Academic Article GET IT
Times cited: 57
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
Times cited: 19
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. American journal of human genetics. 2023 Academic Article GET IT
Times cited: 22
Dystonia phenomenology and treatment response in migraine. Headache. 2023 Academic Article GET IT
Times cited: 7
Adult-onset Niemann-Pick disease type C masquerading as spinocerebellar ataxia. Molecular genetics & genomic medicine. 2022 Academic Article GET IT
Times cited: 8
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Clinical genetics. 2021 Article GET IT
Times cited: 6
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain : a journal of neurology. 2020 Academic Article GET IT
Times cited: 66
Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar. Human molecular genetics. 2019 Academic Article GET IT
Times cited: 25
McLeod syndrome: Five new pedigrees with novel mutations. Parkinsonism & related disorders. 2019 Article GET IT
Times cited: 11
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity. Neurogenetics. 2019 Academic Article GET IT
Times cited: 17
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Human mutation. 2019 Academic Article GET IT
Times cited: 64
Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. European journal of medical genetics. 2017 Article GET IT
Times cited: 28
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Human genetics. 2015 Academic Article GET IT
Times cited: 168
Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder. American journal of medical genetics. Part A. 2014 Article GET IT
It's a small world: fusion of cultures in genetic counseling. Journal of genetic counseling. 2012 Academic Article GET IT
Times cited: 4
Adult-onset Niemann–Pick disease type C masquerading as spinocerebellar ataxia. Article

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Background

education and training

M.Sc., McGill University (Canada) 2010
B.Sc., Carleton University (Canada) 2008

Contact

full name

Shenela Lakhani

primary email

shl2034@med.cornell.edu

webpage

Center for Neurogenetics

VIVO Weill Cornell Medical College

Shenela Lakhani Assistant Professor of Research in Neuroscience

Publications

selected publications

Background

education and training

Contact

full name

primary email

webpage

Phone

Publications

selected publications

Background

education and training

Contact

full name

primary email

webpage