Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate

J Welzenbach, NL Hammond, M Nikolić… - Human Genetics and …, 2021 - cell.com
Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common congenital facial
malformation with a multifactorial etiology. Genome-wide association studies (GWASs) have …

Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations

HK Zieger, L Weinhold, A Schmidt, M Holtgrewe… - Human Genetics and …, 2023 - cell.com
Non-syndromic cleft lip with/without cleft palate (nsCL/P) is a highly heritable facial disorder.
To date, systematic investigations of the contribution of rare variants in non-coding regions …

Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology

LJ Howe, MK Lee, GC Sharp, G Davey Smith… - PLoS …, 2018 - journals.plos.org
There is increasing evidence that genetic risk variants for non-syndromic cleft lip/palate
(nsCL/P) are also associated with normal-range variation in facial morphology. However …

Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate

Y Sun, Y Huang, A Yin, Y Pan, Y Wang, C Wang… - Nature …, 2015 - nature.com
Nonsyndromic cleft lip with or without a cleft palate (NSCL/P) is among the most common
human congenital birth defects and imposes a substantial physical and financial burden on …

Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity

Y Yu, X Zuo, M He, J Gao, Y Fu, C Qin, L Meng… - Nature …, 2017 - nature.com
Non-syndromic cleft lip with palate (NSCLP) is the most serious sub-phenotype of non-
syndromic orofacial clefts (NSOFC), which are the most common craniofacial birth defects in …

A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24. 2, 17q23 and 19q13

EJ Leslie, JC Carlson, JR Shaffer… - Human molecular …, 2016 - academic.oup.com
Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate
(CL/P), are among the most common birth defects in humans, affecting approximately 1 in …

Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate

W Awotoye, PA Mossey, JB Hetmanski, LJJ Gowans… - Scientific reports, 2022 - nature.com
Abstract The majority (85%) of nonsyndromic cleft lip with or without cleft palate (nsCL/P)
cases occur sporadically, suggesting a role for de novo mutations (DNMs) in the etiology of …

DeepFace: Deep learning-based framework to contextualize orofacial cleft-related variants during human embryonic craniofacial development

Y Dai, T Itai, G Pei, F Yan, Y Chu, X Jiang… - Human Genetics and …, 2024 - cell.com
Orofacial clefts (OFC) are among the most common human congenital birth defects.
Previous multiethnic studies have identified dozens of associated loci for both cleft lip with or …

Genetic inheritance models of non-syndromic cleft lip with or without palate: from monogenic to polygenic

X Cheng, F Du, X Long, J Huang - Genes, 2023 - mdpi.com
Non-syndromic cleft lip with or without palate (NSCL/P) is a prevalent birth defect that affects
1/500–1/1400 live births globally. The genetic basis of NSCL/P is intricate and involves both …

CleftGeneDB: a resource for annotating genes associated with cleft lip and cleft palate

H Xu, F Yan, R Hu, A Suzuki, C Iwaya, P Jia… - Science …, 2021 - ui.adsabs.harvard.edu
Cleft lip with/without cleft palate (CL/P) is one of the most common congenital human birth
defects with a prevalence estimated at approximately 1/700 live births worldwide, varying …