Uzma Abdullah

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

Rikke S. Møller, Line H.G. Larsen, Katrine M. Johannesen et al. · Molecular Syndromology · 2016 · 127 citations · Full text

Medicine, Genetics, Neurology +17

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 novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family

Sandra Szczepanski, Muhammad Sajid Hussain, İlknur Sur‐Erdem et al. · Human Genetics · 2015 · 36 citations

Life Sciences, Genetics, Molecular Genetics +13

An update of pathogenic variants in <i>ASPM</i>, <i>WDR62, CDK5RAP2</i>,<i> STIL, CENPJ,</i> and<i> CEP135</i> underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan

Sajida Rasool, Jamshaid Mahmood Baig, Abubakar Moawia et al. · Molecular Genetics & Genomic Medicine · 2020 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

Muhammad Jameel, Joakim Klar, Muhammad Tariq et al. · BMC Medical Genetics · 2014 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17