Search Results - "Gowans, Lord J. J."
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Rare variants analyses suggest novel cleft genes in the African population
Published in Scientific reports (20-06-2024)“…Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology. While over 60 common risk loci have been identified, they explain…”
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Perceptions and beliefs of community gatekeepers about genomic risk information in African cleft research
Published in BMC public health (17-02-2024)“…A fundamental ethical issue in African genomics research is how socio-cultural factors impact perspectives, acceptance, and utility of genomic information,…”
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Genome-wide study of gene-by-sex interactions identifies risks for cleft palate
Published in Human genetics (01-11-2024)“…Structural birth defects affect 3–4% of all live births and, depending on the type, tend to manifest in a sex-biased manner. Orofacial clefts (OFCs) are the…”
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Novel GRHL3 Variants in a South African Cohort With Cleft Lip and Palate
Published in The Cleft palate-craniofacial journal (01-09-2022)“…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…”
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Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate
Published in Scientific reports (11-07-2022)“…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…”
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Investigating the relationship between cancer and orofacial clefts using GWAS significant loci for cancers: A case-control and case-triad study
Published in Frontiers in oral health (05-08-2022)“…Several population-based case-control studies have reported concurrent presentation of cancer and congenital malformations. Many associations have been made…”
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Co‐occurrence of orofacial clefts and clubfoot phenotypes in a sub‐Saharan African cohort: Whole‐exome sequencing implicates multiple syndromes and genes
Published in Molecular genetics & genomic medicine (01-04-2021)“…Background Orofacial clefts (OFCs) are congenital malformations of the face and palate, with an incidence of 1 per 700 live births. Clubfoot or congenital…”
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Genomic analyses in African populations identify novel risk loci for cleft palate
Published in Human molecular genetics (15-03-2019)“…Abstract Orofacial clefts are common developmental disorders that pose significant clinical, economical and psychological problems. We conducted genome-wide…”
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Six2 regulates Pax9 expression, palatogenesis and craniofacial bone formation
Published in Developmental biology (15-02-2020)“…In this study, we investigated the role of the transcription factor Six2 in palate development. Six2 was selected using the SysFACE tool to predict genes from…”
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Shared genetic risk between major orofacial cleft phenotypes in an African population
Published in Genetic epidemiology (01-09-2024)“…Nonsyndromic orofacial clefts (NSOFCs) represent a large proportion (70%–80%) of all OFCs. They can be broadly categorized into nonsyndromic cleft lip with or…”
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Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate
Published in The Cleft palate-craniofacial journal (01-04-2024)“…Objectives Novel or rare damaging mutations have been implicated in the developmental pathogenesis of nonsyndromic cleft lip with or without cleft palate (nsCL…”
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Parents and Provider Perspectives on the Return of Genomic Findings for Cleft Families in Africa
Published in AJOB empirical bioethics (02-04-2024)“…Inadequate knowledge among health care providers (HCPs) and parents of affected children limits the understanding and utility of secondary genetic findings…”
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Genome-Wide Scan for Parent-of-Origin Effects in a sub-Saharan African Cohort With Nonsyndromic Cleft Lip and/or Cleft Palate (CL/P)
Published in The Cleft palate-craniofacial journal (01-07-2022)“…Objective Nonsyndromic cleft lip and/or cleft palate (NSCL/P) have multifactorial etiology where genetic factors, gene–environment interactions, stochastic…”
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Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate
Published in Birth defects research (20-01-2017)“…Background Recent advances in genomics methodologies, in particular the availability of next‐generation sequencing approaches have made it possible to identify…”
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Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate
Published in HGG advances (12-10-2023)“…Cleft palate (CP) is one of the most common craniofacial birth defects; however, there are relatively few established genetic risk factors associated with its…”
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Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndrome
Published in Molecular genetics & genomic medicine (01-08-2020)“…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…”
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Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts
Published in Molecular genetics & genomic medicine (01-11-2018)“…Background Orofacial clefts are the most common malformations of the head and neck region. Genetic and environmental factors have been implicated in the…”
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Variant analyses of candidate genes in orofacial clefts in multi‐ethnic populations
Published in Oral diseases (01-10-2022)“…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…”
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Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus
Published in Frontiers in genetics (20-09-2019)“…The etiology of dental anomalies is multifactorial; and genetic and environmental factors that affect the dental lamina have been implicated. We investigated…”
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