Syeda S. Waseem

Koeln, NW, Germany

Last Updated: 09/26/2026

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Found 8 publications

Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family.

Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family.

Journal: The International journal of neuroscience

Published: June 01, 2022

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.

Journal: Genes

Published: August 23, 2021

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

Journal: Genes

Published: April 16, 2021

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

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

Journal: Molecular genetics & genomic medicine

Published: January 30, 2020

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

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

Journal: The Journal of clinical investigation

Published: November 16, 2017

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.

Journal: Annals of neurology

Published: May 09, 2017

Genetic heterogeneity in Pakistani microcephaly families revisited.

Genetic heterogeneity in Pakistani microcephaly families revisited.

Journal: Clinical genetics

Published: November 24, 2016

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

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

Journal: Human genetics

Published: August 26, 2015

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Last Updated: 09/26/2026