Emrah Kaygusuz

Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome

Muhammad Sajid Hussain, Agatino Battaglia, Sandra Szczepanski et al. · The American Journal of Human Genetics · 2014 · 47 citations

Fibrosis, Mendelian Disorder, Disease Mechanism +10

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

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

Maria Asif, Emrah Kaygusuz, Marwan Shinawi et al. · Human Genetics and Genomics Advances · 2022 · 20 citations · Full text

Loss-of-function variants in <i>DNM1</i> cause a specific form of developmental and epileptic encephalopathy only in biallelic state

Gökhan Yigit, Ruth Sheffer, Muhannad Daana et al. · Journal of Medical Genetics · 2021 · 14 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