Active: Orofacial clefts Clear all

GWAS 2025-10-11

Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.

Dack K, Ludwig KU et al.

Hum Mol Genet

Several genome wide association studies (GWASs) of orofacial cleft have been conducted. However only...

Orofacial clefts

10181

Participants

N/A

Studies

Details PubMed

GWAS 2024-04-18

Shared genetic risk between major orofacial cleft phenotypes in an African population.

Alade A, Peter T et al.

Genet Epidemiol

Nonsyndromic orofacial clefts (NSOFCs) represent a large proportion (70%-80%) of all OFCs. They can ...

Cleft lip with or without cleft palate or cleft palate (pleiotropy)

3178

Participants

N/A

Studies

Details PubMed

GWAS 2022-02-22

Genome-wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes.

Mukhopadhyay N, Feingold E et al.

Genet Epidemiol

Nonsyndromic orofacial clefts (OFCs) are among the most common craniofacial birth defects worldwide,...

Cleft lip or cleft lip with cleft palate

4891

Participants

N/A

Studies

Details PubMed

GWAS 2022-01-04

Multivariate GWAS of Structural Dental Anomalies and Dental Caries in a Multi-Ethnic Cohort.

Alotaibi RN, Howe BJ et al.

Front Dent Med

Odontogenesis is a complex process, where disruption can result in dental anomalies and/or increase ...

Dental anomalies (Tooth Agenesis, impaction and Rotation)

3579

Participants

N/A

Studies

Details PubMed

GWAS 2021-10-23

Genome-wide Gene-by-Sex Interaction Studies Identify Novel Nonsyndromic Orofacial Clefts Risk Locus.

Awotoye W, Comnick C et al.

J Dent Res

Risk loci identified through genome-wide association studies have explained about 25% of the phenoty...

Nonsyndromic orofacial cleft x sex interaction

3178

Participants

N/A

Studies

Details PubMed

GWAS 2021-07-09

Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios.

Ray D, Venkataraghavan S et al.

PLoS Genet

Based on epidemiologic and embryologic patterns, nonsyndromic orofacial clefts- the most common cran...

Cleft lip with or without cleft palate or cleft palate (pleiotropy)

10146

Participants

N/A

Studies

Details PubMed

GWAS 2021-06-15

FAT4 identified as a potential modifier of orofacial cleft laterality.

Curtis SW, Chang D et al.

Genet Epidemiol

Orofacial clefts (OFCs) are common (1 in 700 births) congenital malformations that include a cleft l...

Unilateral cleft lip (left vs right)

Replicated

672

Participants

N/A

Studies

Details PubMed

GWAS 2021-04-09

Genome-Wide Association Study of Non-syndromic Orofacial Clefts in a Multiethnic Sample of Families and Controls Identifies Novel Regions.

Mukhopadhyay N, Feingold E et al.

Front Cell Dev Biol

Orofacial clefts (OFCs) are among the most prevalent craniofacial birth defects worldwide and create...

Nonsyndromic cleft lip with or without cleft palate

9447

Participants

N/A

Studies

Details PubMed

GWAS 2021-04-01

The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip.

Curtis SW, Chang D et al.

HGG Adv

Nonsyndromic orofacial clefts (OFCs) are a common birth defect and are phenotypically heterogenous i...

Bilateral cleft lip

Replicated

1670

Participants

N/A

Studies

Details PubMed

GWAS 2020-10-29

Secondary Genome-Wide Association Study Using Novel Analytical Strategies Disentangle Genetic Components of Cleft Lip and/or Cleft Palate in 1q32.2.

Yang Y, Suzuki A et al.

Genes (Basel)

Orofacial cleft (OFC) is one of the most prevalent birth defects, leading to substantial and long-te...

Orofacial clefts

10542

Participants

N/A

Studies

Details PubMed

GWAS 2020-08-06

Genome-wide Analyses Identify a Novel Risk Locus for Nonsyndromic Cleft Palate.

He M, Zuo X et al.

J Dent Res

The 3 major subphenotypes observed in patients with nonsyndromic orofacial clefts (NSOFCs) are nonsy...

Nonsyndromic cleft palate

Replicated

11404

Participants

N/A

Studies

Details PubMed

GWAS 2018-11-19

Genomic analyses in african populations identify novel risk loci for cleft palate.

Butali A, Mossey PA et al.

Hum Mol Genet

Orofacial clefts are common developmental disorders that pose significant clinical, economical and p...

Cleft lip with or without cleft palate

Replicated

4429

Participants

N/A

Studies

Details PubMed

Title

Author

Journal

Disease/Trait

Date

Actions

Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.

Dack K, Ludwig KU et al.

Hum Mol Genet

Orofacial clefts

2025-10-11

Shared genetic risk between major orofacial cleft phenotypes in an African population.

Alade A, Peter T et al.

Genet Epidemiol

Cleft lip with or without cleft palate or cleft palate (pleiotropy)

2024-04-18

Genome-wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes.

Mukhopadhyay N, Feingold E et al.

Genet Epidemiol

Cleft lip or cleft lip with cleft palate

2022-02-22

Multivariate GWAS of Structural Dental Anomalies and Dental Caries in a Multi-Ethnic Cohort.

Alotaibi RN, Howe BJ et al.

Front Dent Med

Dental anomalies (Tooth Agenesis, impaction and Rotation)

2022-01-04

Genome-wide Gene-by-Sex Interaction Studies Identify Novel Nonsyndromic Orofacial Clefts Risk Locus.

Awotoye W, Comnick C et al.

J Dent Res

Nonsyndromic orofacial cleft x sex interaction

2021-10-23

Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios.

Ray D, Venkataraghavan S et al.

PLoS Genet

Cleft lip with or without cleft palate or cleft palate (pleiotropy)

2021-07-09

FAT4 identified as a potential modifier of orofacial cleft laterality.

Curtis SW, Chang D et al.

Genet Epidemiol

Unilateral cleft lip (left vs right)

2021-06-15

Genome-Wide Association Study of Non-syndromic Orofacial Clefts in a Multiethnic Sample of Families and Controls Identifies Novel Regions.

Mukhopadhyay N, Feingold E et al.

Front Cell Dev Biol

Nonsyndromic cleft lip with or without cleft palate

2021-04-09

The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip.

Curtis SW, Chang D et al.

HGG Adv

Bilateral cleft lip

2021-04-01

Secondary Genome-Wide Association Study Using Novel Analytical Strategies Disentangle Genetic Components of Cleft Lip and/or Cleft Palate in 1q32.2.

Yang Y, Suzuki A et al.

Genes (Basel)

Orofacial clefts

2020-10-29

Genome-wide Analyses Identify a Novel Risk Locus for Nonsyndromic Cleft Palate.

He M, Zuo X et al.

J Dent Res

Nonsyndromic cleft palate

2020-08-06

Genomic analyses in african populations identify novel risk loci for cleft palate.

Butali A, Mossey PA et al.

Hum Mol Genet

Cleft lip with or without cleft palate

2018-11-19