Ehtisham Ul Haq Makhdoom

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

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Maria Iqbal, Reza Maroofian, Büşranur Çavdarlı et al. · Genetics in Medicine · 2021 · 26 citations · Full text

Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families

Ehtisham Ul Haq Makhdoom, Haseeb Anwar, Shahid Mahmood Baig et al. · Pakistan Journal of Medical Sciences · 2021 · 11 citations · Full text

A homozygous founder variant in <scp><i>PDE2A</i></scp> causes paroxysmal dyskinesia with intellectual disability

Hammad Yousaf, Shagufta Rehmat, Muhammad Jameel et al. · Clinical Genetics · 2023 · 11 citations · Full text

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

Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal et al. · Genes · 2021 · 10 citations · Full text