Waheed Awotoye
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View article: A Comparative Evaluation of Deep Machine Learning Models in Orthodontic Clinical Outcomes: A Scoping Review.
A Comparative Evaluation of Deep Machine Learning Models in Orthodontic Clinical Outcomes: A Scoping Review. Open
View article: Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiology
Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiology Open
Objectives Nonsyndromic orofacial clefts (OFCs) involve complex genetic and environmental factors, with over 60 risk loci accounting for only a minority of estimated heritability and residing in non-coding regions with unclear functional r…
View article: Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance
Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance Open
Objective Oculoauriculovertebral spectrum (OAVS) encompasses abnormalities on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular, and vertebral anom…
View article: Multi-omic analyses of a twin pair with mirror image cleft lip identifies pathogenic variant in<i>FGF20</i>modified by differential methylation upstream of<i>ZFP57</i>
Multi-omic analyses of a twin pair with mirror image cleft lip identifies pathogenic variant in<i>FGF20</i>modified by differential methylation upstream of<i>ZFP57</i> Open
Background Disturbances in the intricate processes that control craniofacial morphogenesis can result in birth defects, most common of which are orofacial clefts (OFCs). Nonsyndromic cleft lip (nsCL), one of the phenotypic forms amongst OF…
View article: Parental Age and Severity of Non-Syndromic Orofacial Clefts: Relationship with De Novo Mutations
Parental Age and Severity of Non-Syndromic Orofacial Clefts: Relationship with De Novo Mutations Open
Background: This study investigates the relationship between paternal and maternal age, and the severity of orofacial clefts and the presence of de novo mutations in children. Methods: This was a retrospective study of individuals who were…
View article: Aggressive Periodontitis: A case report with exome sequencing and functional characterization of identified variant
Aggressive Periodontitis: A case report with exome sequencing and functional characterization of identified variant Open
Aggressive periodontitis (AgP) is characterized by rapid and progressive destruction of the periodontal tissues and eventual tooth loss. Genetic risk contributions have been explored and rare mutations in NOD2 were reported. Sequencing ana…
View article: Rare variants analyses suggest novel cleft genes in the African population
Rare variants analyses suggest novel cleft genes in the African population Open
Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology. While over 60 common risk loci have been identified, they explain only a small proportion of the heritability for NSOFCs. Rare variants have been imp…
View article: Shared genetic risk between major orofacial cleft phenotypes in an African population
Shared genetic risk between major orofacial cleft phenotypes in an African population Open
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 (NSCL/P) and nonsyndromic cleft palate only (NSCPO). Althou…
View article: Rare Variants Analyses Suggest Novel Cleft Genes in the African Population
Rare Variants Analyses Suggest Novel Cleft Genes in the African Population Open
Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology. While over 60 common risk loci have been identified, they explain only a small proportion of the heritability for NSOFC. Rare variants have been impl…
View article: Perceptions and beliefs of community gatekeepers about genomic risk information in African cleft research
Perceptions and beliefs of community gatekeepers about genomic risk information in African cleft research Open
Background A fundamental ethical issue in African genomics research is how socio-cultural factors impact perspectives, acceptance, and utility of genomic information, especially in stigmatizing conditions like orofacial clefts (OFCs). Prev…
View article: Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum
Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum Open
Background Oculoauriculovertebral Spectrum (OAVS) encompasses abnormalities on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular and vertebral anom…
View article: DNA methylation effects on Van der Woude Syndrome phenotypic variability
DNA methylation effects on Van der Woude Syndrome phenotypic variability Open
OBJECTIVE Van der Woude Syndrome (VWS) classically presents with combinations of lip pits (LP) and orofacial clefts, with marked phenotypic discordance even amongst individuals carrying the same mutation. Such discordance suggests a possib…
View article: Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts
Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts Open
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 reporting of SFs in Africans, who are underrepresented in l…
View article: Correction to “A mutational hotspot in <i>AMOTL1</i> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature”
Correction to “A mutational hotspot in <i>AMOTL1</i> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature” Open
View article: Baseline assessment of oral health needs among underserved populations in the United States
Baseline assessment of oral health needs among underserved populations in the United States Open
Introduction: There are numerous inequities in access to oral healthcare in the United States (US). Lower utilization of oral healthcare services, a higher burden of dental diseases, and poorer dental outcomes are more prevalent among US i…
View article: Novel <i>IRF6</i> variant in orofacial cleft patients from Durban, South Africa
Novel <i>IRF6</i> variant in orofacial cleft patients from Durban, South Africa Open
Background To date, there are over 320 variants identified in the IRF6 gene that cause Van der Woude syndrome or popliteal pterygium syndrome. We sequenced this gene in a South African orofacial cleft cohort to identify the causal IRF6 var…
View article: A mutational hotspot in <scp><i>AMOTL1</i></scp> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature
A mutational hotspot in <span><i>AMOTL1</i></span> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature Open
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 a large cohort of individuals harboring heterozygous AMOT…
View article: Genetic heterogeneity and enrichment of variants in <scp>DNA‐repair</scp> genes in ameloblastoma
Genetic heterogeneity and enrichment of variants in <span>DNA‐repair</span> genes in ameloblastoma Open
Objective Ameloblastomas are a group of relatively common odontogenic tumors that frequently originate from the dental epithelium. These tumors are aggressive in nature and present as slow‐growing painless cortical expansion of the jaw. Hi…
View article: Damaging Mutations in <b> <i>AFDN</i> </b> Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate
Damaging Mutations in <b> <i>AFDN</i> </b> Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate Open
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 investigated the human genome for high-impact mutations that cou…
View article: Investigating the relationship between cancer and orofacial clefts using GWAS significant loci for cancers: A case-control and case-triad study
Investigating the relationship between cancer and orofacial clefts using GWAS significant loci for cancers: A case-control and case-triad study Open
Background Several population-based case-control studies have reported concurrent presentation of cancer and congenital malformations. Many associations have been made between oral clefting and cancers, though some of these results are con…
View article: Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate
Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate Open
View article: Periconceptional use of vitamin A and the risk of giving birth to a child with <scp>nonsyndromic</scp> orofacial clefts—A <scp>meta‐analysis</scp>
Periconceptional use of vitamin A and the risk of giving birth to a child with <span>nonsyndromic</span> orofacial clefts—A <span>meta‐analysis</span> Open
Background We conducted a meta‐analysis of observational epidemiological studies to evaluate the association between periconceptional use of vitamin A and the risk of giving birth to a child with nonsyndromic orofacial clefts (NSOFCs). Met…
View article: Systematic review on the known variants and genes associated with orofacial clefts in Africa
Systematic review on the known variants and genes associated with orofacial clefts in Africa Open
A systematic review of the literature was conducted to assess the known variants and genes associated with orofacial clefts (OFC) in Africa. This was performed via an electronic search, using a set of predefined search terms, in seven data…
View article: Whole-genome Sequencing Reveals De-novo Mutations Associated with Nonsyndromic Cleft Lip/Palate
Whole-genome Sequencing Reveals De-novo Mutations Associated with Nonsyndromic Cleft Lip/Palate Open
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 identify high impact DNMs that contribute to the risk…
View article: Genome-wide Gene-by-Sex Interaction Studies Identify Novel Nonsyndromic Orofacial Clefts Risk Locus
Genome-wide Gene-by-Sex Interaction Studies Identify Novel Nonsyndromic Orofacial Clefts Risk Locus Open
Risk loci identified through genome-wide association studies have explained about 25% of the phenotypic variations in nonsyndromic orofacial clefts (nsOFCs) on the liability scale. Despite the notable sex differences in the incidences of t…
View article: Novel GRHL3 Variants in a South African Cohort With Cleft Lip and Palate
Novel GRHL3 Variants in a South African Cohort With Cleft Lip and Palate Open
Objective The etiology of cleft palate (CP) is poorly understood compared with that of cleft lip with or without palate (CL ± P). Recently, variants in Grainyhead like transcription factor 3 ( GRHL3 ) were reported to be associated with a …
View article: Genome-Wide Scan for Parent-of-Origin Effects in a sub-Saharan African Cohort With Nonsyndromic Cleft Lip and/or Cleft Palate (CL/P)
Genome-Wide Scan for Parent-of-Origin Effects in a sub-Saharan African Cohort With Nonsyndromic Cleft Lip and/or Cleft Palate (CL/P) Open
Objective Nonsyndromic cleft lip and/or cleft palate (NSCL/P) have multifactorial etiology where genetic factors, gene–environment interactions, stochastic factors, gene–gene interactions, and parent-of-origin effects (POEs) play cardinal …
View article: Variant analyses of candidate genes in orofacial clefts in multi‐ethnic populations
Variant analyses of candidate genes in orofacial clefts in multi‐ethnic populations Open
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. Affecting ~1.2/1000 live births worldwide, these …
View article: Replication of GWAS significant loci in a sub-Saharan African Cohort with early childhood caries: a pilot study
Replication of GWAS significant loci in a sub-Saharan African Cohort with early childhood caries: a pilot study Open
View article: Dental Caries Severity and Nutritional Status of Nigerian Preschool Children
Dental Caries Severity and Nutritional Status of Nigerian Preschool Children Open
Introduction: Malnutrition in children is one of the most prevalent global health challenges, and malnourished children have a higher risk of death from childhood diseases. Early childhood caries (ECC) is the most common chronic disease of…