Assessment of candidate genes and genetic heterogeneity in human non syndromic orofacial clefts specifically non syndromic cleft lip with or without palate

K Saleem, T Zaib, W Sun, S Fu - Heliyon, 2019 - cell.com
Non syndromic orofacial clefts specifically non-syndromic cleft lip/palate are one of the most
common craniofacial malformation among birth defects in human having multifactorial …

Genetic and epigenetic studies in non‐syndromic oral clefts

A Alade, W Awotoye, A Butali - Oral diseases, 2022 - Wiley Online Library
The etiology of non‐syndromic oral clefts (NSOFC) is complex with genetics, genomics,
epigenetics, and stochastics factors playing a role. Several approaches have been applied …

Environmental mechanisms of orofacial clefts

MA Garland, K Reynolds, CJ Zhou - Birth defects research, 2020 - Wiley Online Library
Orofacial clefts (OFCs) are among the most common birth defects and impart a significant
burden on afflicted individuals and their families. It is increasingly understood that many …

A large structural variant collection in Holstein cattle and associated database for variant discovery, characterization, and application

JR Grant, EK Herman, LD Barlow, F Miglior… - BMC genomics, 2024 - Springer
Abstract Background Structural variants (SVs) such as deletions, duplications, and insertions
are known to contribute to phenotypic variation but remain challenging to identify and …

[PDF][PDF] Cleft lip/palate and educational attainment: cause, consequence or correlation? A Mendelian randomization study

C Dardani, LJ Howe, N Mukhopadhyay… - International Journal …, 2020 - academic.oup.com
Background Previous studies have found that children born with a non-syndromic orofacial
cleft have lower-than-average educational attainment. Differences could be due to a genetic …

The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip

SW Curtis, D Chang, MK Lee, JR Shaffer… - Human Genetics and …, 2021 - cell.com
Nonsyndromic orofacial clefts (OFCs) are a common birth defect and are phenotypically
heterogenous in the structure affected by the cleft—cleft lip (CL) and cleft lip and palate …

Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes

SW Curtis, JC Carlson, TH Beaty, JC Murray… - Human genetics, 2023 - Springer
As one of the most common structural birth defects, orofacial clefts (OFCs) have been
studied for decades, and recent studies have demonstrated that there are genetic …

[HTML][HTML] The impact of developmental genes in non-syndromic cleft lip and/or palate

NŞ Uysal, Fİ Şahin, YK Terzi - Journal of the Turkish German …, 2023 - ncbi.nlm.nih.gov
Non-syndromic cleft lip and/or palate (NSCL/P) is a congenital malformation with a
prevalence of 1: 700 births. It has a multifactorial etiology. Human craniofacial development …

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 …

Combining genetic and single-cell expression data reveals cell types and novel candidate genes for orofacial clefting

A Siewert, S Hoeland, E Mangold, KU Ludwig - Scientific Reports, 2024 - nature.com
Non-syndromic cleft lip with/without cleft palate (nsCL/P) is one of the most common birth
defects and has a multifactorial etiology. To date, over 45 loci harboring common risk …