Associated Papers
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1
A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome.
Yadav N et al.
Annals of Human Genetics, 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
32677750 (PubMed )
Supplement: MGG3-8-e1408-s002.pdf
Loss of CPAP in developing mouse brain and its functional implication for human primary microcephaly.
Lin YN et al.
Journal of Cell Science, 2020
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM3_ESM.xlsx › Table_S2
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
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30214071 (PubMed )
Supplement: NIHMS1061370-supplement-1061370_Sup_MOESM2.xlsx › Sheet1
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Novel CENPJ mutation causes Seckel syndrome.
Al-Dosari MS et al.
Journal of Medical Genetics, 2010
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