Associated Papers
A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.
Ahmad R et al.
Neurogenetics, 2025
Expanding the mutational spectrum of congenital microcephaly in Pakistani families.
Farooq S et al.
Frontiers in Genetics, 2025
A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome.
Yadav N et al.
Annals of Human Genetics, 2022
Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.
Khan NM et al.
Biomed Research International, 2022
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Rasool S et al.
Molecular Genetics & Genomic Medicine, 2020
Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient.
Cueto-González AM et al.
Human Genome Variation, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).
Naveed M et al.
Genetics Research, 2018
Genetic causes of MCPH in consanguineous Pakistani families.
Kraemer N et al.
Clinical Genetics, 2016
Genetic heterogeneity in Pakistani microcephaly families.
Sajid Hussain M et al.
Clinical Genetics, 2013
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome.
McIntyre RE et al.
Plos Genetics, 2012
Novel CENPJ mutation causes Seckel syndrome.
Al-Dosari MS et al.
Journal of Medical Genetics, 2010
Functional characterization of the microtubule-binding and -destabilizing domains of CPAP and d-SAS-4.
Hsu WB et al.
Experimental Cell Research, 2008
A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.
Gul A et al.
Journal of Human Genetics, 2006
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
Bond J et al.
Nature Genetics, 2005
Select a paper to view details