Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts

Autor: Rasha N. Alotaibi, Brian J. Howe, Lina M. Moreno Uribe, Carla Sanchez, Frederic W.B. Deleyiannis, Carmencita Padilla, Fernando A. Poletta, Ieda M. Orioli, Carmen J. Buxó, George L. Wehby, Alexandre R. Vieira, Jeffrey Murray, Consuelo Valencia-Ramírez, Claudia P. Restrepo Muñeton, Ross E. Long, John R. Shaffer, Steven E. Reis, Seth M. Weinberg, Katherine Neiswanger, Daniel W. McNeil, Mary L. Marazita

Publikováno v: Human Heredity. 87:34-50

Introduction: Enamel hypoplasia causes a reduction in the thickness of affected enamel and is one of the most common dental anomalies. This defect is caused by environmental and/or genetic factors that interfere with tooth formation, emphasizing the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41069edb8af58714d63e2e2abe6c1c74
https://doi.org/10.1159/000522642

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

Autor: Nandita Mukhopadhyay, Eleanor Feingold, Lina Moreno‐Uribe, George Wehby, Luz Consuelo Valencia‐Ramirez, Claudia P. Restrepo Muñeton, Carmencita Padilla, Frederic Deleyiannis, Kaare Christensen, Fernando A. Poletta, Ieda M. Orioli, Jacqueline T. Hecht, Carmen J. Buxó, Azeez Butali, Wasiu L. Adeyemo, Alexandre R. Vieira, John R. Shaffer, Jeffrey C. Murray, Seth M. Weinberg, Elizabeth J. Leslie, Mary L. Marazita

Publikováno v: Mukhopadhyay, N, Feingold, E, Moreno-Uribe, L, Wehby, G, Valencia-Ramirez, L C, Restrepo Muñeton, C P, Padilla, C, Deleyiannis, F, Christensen, K, Poletta, F A, Orioli, I M, Hecht, J T, Buxó, C J, Butali, A, Adeyemo, W L, Vieira, A R, Shaffer, J R, Murray, J C, Weinberg, S M, Leslie, E J & Marazita, M L 2022, ' Genome-wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes ', Genetic Epidemiology, vol. 46, no. 3-4, pp. 182-198 . https://doi.org/10.1002/gepi.22447
Genet Epidemiol

Nonsyndromic orofacial clefts (OFCs) are among the most common craniofacial birth defects worldwide, and known to exhibit phenotypic and genetic heterogeneity. Cleft lip plus cleft palate (CLP) and cleft lip only (CL) are commonly combined together a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e51385e2323a1133edbd24a52ee6b3c9
https://portal.findresearcher.sdu.dk/da/publications/c7612e3a-7802-4965-b750-26a9465baf46

Dental Anomaly Detection Using Intraoral Photos Via Deep Learning

Autor: Jacqueline T. Hecht, Carmencita D. Padilla, Lina M. Moreno Uribe, Consuelo Valencia-Ramirez, Tong Wang, Iêda M. Orioli, Seth M. Weinberg, Carmen J. Buxó, Azeez Butali, Fernando A. Poletta, B.J. Howe, George L. Wehby, Mary L. Marazita, Ronilo Ragodos, Claudia P. Restrepo Muñeton

Children with orofacial clefting (OFC) present with a wide range of dental anomalies. Identifying these anomalies is vital to understand their etiology and to discern the complex phenotypic spectrum of OFC. Such anomalies are currently identified usi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c64bb247e93ba4ba06b4aac6d67cb7b
https://doi.org/10.21203/rs.3.rs-1061414/v1

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

Autor: George L. Wehby, Carmen J. Buxó, Seth M. Weinberg, John R. Shaffer, Jeffrey C. Murray, Jacqueline T. Hecht, Luz Consuelo Valencia-Ramirez, Claudia P. Restrepo Muñeton, Carmencita Padilla, Kaare Christensen, Fernando A. Poletta, Wasiu Lanre Adeyemo, Alexandre R. Vieira, Eleanor Feingold, Iêda M. Orioli, Azeez Butali, Elizabeth J. Leslie, Frederic W.-B. Deleyiannis, Lina Moreno-Uribe, Nandita Mukhopadhyay, Mary L. Marazita

Orofacial clefts (OFCs) are among the most prevalent craniofacial birth defects worldwide and create a significant public health burden. The majority of OFCs are non-syndromic and vary in prevalence by ethnicity. Africans have the lowest prevalence o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2e6b580849dca44b07b5691bb06fc0cf
https://doi.org/10.1101/2020.10.27.20220574

Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios

Autor: David J. Cutler, Madison R. Bishop, Robert J. Lipinski, Jacqueline T. Hecht, Lina Moreno-Uribe, Margaret A. Taub, Elizabeth J. Leslie, Yah Huei Wu-Chou, Michael P. Epstein, Ingo Ruczinski, Jacqueline B. Hetmanski, Samantha Ho, Jeffrey C. Murray, Claudia P. Restrepo Muñeton, Nandita Mukhopadhyay, Luz Consuelo Valencia-Ramirez, Pankaj Chopra, Philip Kuo-Ting Chen, Kimberly K. Diaz Perez, Harrison Brand, Terri H. Beaty, Seth M. Weinberg, George L. Wehby, Eleanor Feingold, Mary L. Marazita, Frederic W.-B. Deleyiannis, Miranda Sun

Publikováno v: Am J Hum Genet

Although de novo mutations (DNMs) are known to increase an individual's risk of congenital defects, DNMs have not been fully explored regarding orofacial clefts (OFCs), one of the most common human birth defects. Therefore, whole-genome sequencing of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2a08b53b1995f2310e68b66a25c5469
https://pubmed.ncbi.nlm.nih.gov/32574564