Associated Papers
A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome.
Yadav N et al.
Annals of Human Genetics, 2022
Exome sequencing as first-tier test for fetuses with severe central nervous system structural anomalies.
Yaron Y et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 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
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
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