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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2024
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotoniaMaria Asif, Arwa Ishaq A Khayyat, Salem Alawbathani, et al.
Annals of Neurology|September 12, 2017
Mutations of KIF14 cause primary microcephaly by impairing cytokinesisAbubakar Moawia, Ranad Shaheen, Sajida Rasool, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2022
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signalingWilliam Dufour, Salem Alawbathani, Anne-Sophie Jourdain, et al.
Genes|June 2, 2021
Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJEhtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndromeMuhammad Sajid Hussain, Agatino Battaglia, Sandra Szczepanski, et al.
Molecular Genetics & Genomic Medicine|July 18, 2020
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from PakistanSajida Rasool, Jamshaid Mahmood Baig, Abubakar Moawia, et al.
Clinical Genetics|July 16, 2021
A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndromeEmrah Kaygusuz, Arwa Ishaq A Khayyat, Uzma Abdullah, et al.
HGG Advances|May 16, 2022
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathwayMaria Asif, Emrah Kaygusuz, Marwan Shinawi, et al.
Nature Genetics|October 27, 2014
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathyCarol-Anne Martin, Ilyas Ahmad, Anna Klingseisen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 10, 2021
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomaliesMaria Iqbal, Reza Maroofian, Büşranur Çavdarlı, et al.
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