Genetic determination of human facial morphology: links between cleft-lips and normal variation

S Boehringer, F Van Der Lijn, F Liu… - European Journal of …, 2011 - nature.com
Recent genome-wide association studies have identified single nucleotide polymorphisms
(SNPs) associated with non-syndromic cleft lip with or without cleft palate (NSCL/P), and …

Six NSCL/P loci show associations with normal-range craniofacial variation

K Indencleef, J Roosenboom, H Hoskens… - Frontiers in …, 2018 - frontiersin.org
Objectives: Orofacial clefting is one of the most prevalent craniofacial malformations.
Previous research has demonstrated that unaffected relatives of patients with non-syndromic …

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 …

Exploratory genotype–phenotype correlations of facial form and asymmetry in unaffected relatives of children with non‐syndromic cleft lip and/or palate

SF Miller, SM Weinberg, NL Nidey, DK Defay… - Journal of …, 2014 - Wiley Online Library
Family relatives of children with nonsyndromic cleft lip with or without cleft palate (NSCL/P)
who presumably carry a genetic risk yet do not manifest overt oral clefts, often present with …

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 …

A genome-wide association study identifies five loci influencing facial morphology in Europeans

F Liu, F Van Der Lijn, C Schurmann, G Zhu… - 2012 - journals.plos.org
Inter-individual variation in facial shape is one of the most noticeable phenotypes in
humans, and it is clearly under genetic regulation; however, almost nothing is known about …

Transverse craniofacial features and their genetic predisposition in families with nonsyndromic unilateral cleft lip and palate

YJ Yoon, MR Perkiomaki, RH Tallents… - The Cleft palate …, 2004 - journals.sagepub.com
Objective The purpose of this study was to evaluate the transverse craniofacial form in
families with nonsyndromic cleft lip and palate (NSCLP). It was hypothesized that affected as …

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

E Mangold, KU Ludwig, S Birnbaum, C Baluardo… - Nature …, 2010 - nature.com
We conducted a genome-wide association study for nonsyndromic cleft lip with or without
cleft palate (NSCL/P) in 401 affected individuals and 1,323 controls, with replication in an …

Evidence for SNP‐SNP interaction identified through targeted sequencing of cleft case‐parent trios

Y Xiao, MA Taub, I Ruczinski, F Begum… - Genetic …, 2017 - Wiley Online Library
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is the most common craniofacial
birth defect in humans, affecting 1 in 700 live births. This malformation has a complex …

Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2

MK Lee, JR Shaffer, EJ Leslie, E Orlova, JC Carlson… - PloS one, 2017 - journals.plos.org
Several studies have now shown evidence of association between common genetic variants
and quantitative facial traits in humans. The reported associations generally involve simple …