Kamal Khan

Mutations of <i>KIF14</i> cause primary microcephaly by impairing cytokinesis

Abubakar Moawia, Ranad Shaheen, Sajida Rasool et al. · Annals of Neurology · 2017 · 85 citations

Life Sciences, Genetics, Molecular Genetics +17

A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features

Georgios Kellaris, Kamal Khan, Shahid Mahmood Baig et al. · Human Genomics · 2018 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies

Tahir Naeem Khan, Kamal Khan, Azita Sadeghpour et al. · The American Journal of Human Genetics · 2019 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities

Zafar Ali, Joakim Klar, M. Inam Jameel et al. · Journal of the Neurological Sciences · 2016 · 31 citations

Medicine, Genetics, Molecular Genetics +16

A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers

Joakim Klar, Zafar Ali, Muhammad Farooq et al. · European Journal of Human Genetics · 2017 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16