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
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
Novel CENPJ mutation causes Seckel syndrome.
Al-Dosari MS et al.
Journal of Medical Genetics, 2010
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