Associated Papers
Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.
Bonardi CM et al.
Nature Communications, 2026
CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome.
Theis JL et al.
Circulation. Genomic and Precision Medicine, 2022
A CELSR1 variant in a patient with pulmonary arterial hypertension.
Eyries M et al.
Clinical Genetics, 2021
CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease.
Yang L et al.
Database : the Journal of Biological Databases and Curation, 2020
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.
Beaumont M et al.
Human Genetics, 2019
Genetic analysis of rare coding mutations of CELSR1-3 in congenital heart and neural tube defects in Chinese people.
Qiao X et al.
Clinical Science (london, England : 1979), 2016
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