Syeda Seema Waseem

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

Daniela A. Braun, Svjetlana Lovric, David Schapiro et al. · Journal of Clinical Investigation · 2018 · 138 citations · Full text

Glomerular Disease, Genetics, Renal Pathology +22

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

Abubakar Moawia, Ranad Shaheen, Sajida Rasool et al. · Annals of Neurology · 2017 · 83 citations

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 · 34 citations

Primary Microcephaly, Mendelian Disorder, Genetic Disorder +10

Genetic heterogeneity in Pakistani microcephaly families revisited

Ilyas Ahmad, Shahid Mahmood Baig, Adnan Abdulkareem et al. · Clinical Genetics · 2016 · 33 citations

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 · 33 citations · Full text