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Article

Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.

American journal of human genetics - 5 Jan 2023

Lansdon Lisa A, Dickinson Amanda, Arlis Sydney, Liu Huan, Hlas Arman, Hahn Alyssa, Bonde Greg, Long Abby, Standley Jennifer, Tyryshkina Anastasia, Wehby George, Lee Nanette R, Daack-Hirsch Sandra, Mohlke Karen, Girirajan Santhosh, Darbro Benjamin W, Cornell Robert A, Houston Douglas W, Murray Jeffrey C, Manak J Robert

Abstract excerpt

Cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex, heterogeneous etiology. It is well established that common and rare sequence variants contribute to the formation of CL/P, but the contribution of copy-number variants (CNVs) to cleft formation remains relatively understudied. To fill this knowledge gap, we conducted a large-scale comparative analysis of genome-wide CNV...

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Identifiers

PMID: 36493769
DOI: 10.1016/j.ajhg.2022.11.012
PMCID: PMC9892779

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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