[HTML][HTML] Genetic factors influencing risk to orofacial clefts: today's challenges and tomorrow's opportunities

TH Beaty, ML Marazita, EJ Leslie - F1000Research, 2016 - ncbi.nlm.nih.gov
Orofacial clefts include cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), which
combined represent the largest group of craniofacial malformations in humans with an …

Facial genetics: a brief overview

S Richmond, LJ Howe, S Lewis, E Stergiakouli… - Frontiers in …, 2018 - frontiersin.org
Historically, craniofacial genetic research has understandably focused on identifying the
causes of craniofacial anomalies and it has only been within the last 10 years, that there has …

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 …

Multimodal spatiotemporal transcriptomic resolution of embryonic palate osteogenesis

JO Piña, R Raju, DM Roth, EW Winchester… - Nature …, 2023 - nature.com
The terminal differentiation of osteoblasts and subsequent formation of bone marks an
important phase in palate development that leads to the separation of the oral and nasal …

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 …

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 meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or …

EJ Leslie, JC Carlson, JR Shaffer, A Butali, CJ Buxó… - Human genetics, 2017 - Springer
Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial
birth defects with complex etiologies that include genetic and environmental risk factors …

Decoding the human face: progress and challenges in understanding the genetics of craniofacial morphology

S Naqvi, H Hoskens, F Wilke… - Annual review of …, 2022 - annualreviews.org
Variations in the form of the human face, which plays a role in our individual identities and
societal interactions, have fascinated scientists and artists alike. Here, we review our current …

Revisiting the embryogenesis of lip and palate development

NL Hammond, MJ Dixon - Oral Diseases, 2022 - Wiley Online Library
Clefts of the lip and palate (CLP), the major causes of congenital facial malformation
globally, result from failure of fusion of the facial processes during embryogenesis. With a …

Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci

EJ Leslie, MA Taub, H Liu, KM Steinberg… - The American Journal of …, 2015 - cell.com
Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have
identified multiple strongly associated regions, the causal variants are unknown. To address …