Variant analyses of candidate genes in orofacial clefts in multi‐ethnic populations
Objectives Cleft lip with/without cleft palate and cleft palate only is congenital birth defects
where the upper lip and/or palate fail to fuse properly during embryonic facial development. …
where the upper lip and/or palate fail to fuse properly during embryonic facial development. …
Co‐occurrence of orofacial clefts and clubfoot phenotypes in a sub‐Saharan African cohort: Whole‐exome sequencing implicates multiple syndromes and genes
…, DK Sabbah, FKN Arthur, WO Awotoye… - Molecular genetics & …, 2021 - Wiley Online Library
Background Orofacial clefts (OFCs) are congenital malformations of the face and palate, with
an incidence of 1 per 700 live births. Clubfoot or congenital talipes equinovarus (CTEV) is a …
an incidence of 1 per 700 live births. Clubfoot or congenital talipes equinovarus (CTEV) is a …
Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate
W Awotoye, PA Mossey, JB Hetmanski… - The Cleft Palate …, 2024 - journals.sagepub.com
Objectives Novel or rare damaging mutations have been implicated in the developmental
pathogenesis of nonsyndromic cleft lip with or without cleft palate (nsCL ± P). Thus, we …
pathogenesis of nonsyndromic cleft lip with or without cleft palate (nsCL ± P). Thus, we …
[HTML][HTML] 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
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 nsCL/P. To …
sporadically, suggesting a role for de novo mutations (DNMs) in the etiology of nsCL/P. To …
Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndrome
Background The development of the face occurs during the early days of intrauterine life by
the formation of facial processes from the first Pharyngeal arch. Derangement in these well‐…
the formation of facial processes from the first Pharyngeal arch. Derangement in these well‐…
Shared genetic risk between major orofacial cleft phenotypes in an African population
…, W Awotoye, D Anand, O Abimbola… - Genetic …, 2024 - Wiley Online Library
Nonsyndromic orofacial clefts (NSOFCs) represent a large proportion (70%–80%) of all
OFCs. They can be broadly categorized into nonsyndromic cleft lip with or without cleft palate (…
OFCs. They can be broadly categorized into nonsyndromic cleft lip with or without cleft palate (…
Relationship between parental age and severity of orofacial clefts
OBJECTIVES This study aims to investigate the relationship between paternal age, maternal
age, and both on the severity of orofacial clefts. DESIGN This was a retrospective study of …
age, and both on the severity of orofacial clefts. DESIGN This was a retrospective study of …
Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts
A Oladayo, LJJ Gowans, W Awotoye… - Molecular genetics & …, 2023 - Wiley Online Library
Introduction The frequency and implications of secondary findings (SFs) from genomic testing
data have been extensively researched. However, little is known about the frequency or …
data have been extensively researched. However, little is known about the frequency or …
[HTML][HTML] Perceptions and beliefs of community gatekeepers about genomic risk information in African cleft research
Background A fundamental ethical issue in African genomics research is how socio-cultural
factors impact perspectives, acceptance, and utility of genomic information, especially in …
factors impact perspectives, acceptance, and utility of genomic information, especially in …
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature
…, LL Cox, PC Lee, LQ Zhang, W Awotoye… - American Journal of …, 2023 - Wiley Online Library
AMOTL1 encodes angiomotin‐like protein 1, an actin‐binding protein that regulates cell polarity,
adhesion, and migration. The role of AMOTL1 in human disease is equivocal. We report …
adhesion, and migration. The role of AMOTL1 in human disease is equivocal. We report …