Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Jacqueline B. Hetmanski"'
Autor:
Abimbola Oladayo, Lord Jephthah Joojo Gowans, Waheed Awotoye, Azeez Alade, Tamara Busch, Thirona Naicker, Mekonen A. Eshete, Wasiu L. Adeyemo, Jacqueline B. Hetmanski, Erliang Zeng, Olawale Adamson, Chinyere Adeleke, Mary Li, Veronica Sule, Sami Kayali, Joy Olotu, Peter A. Mossey, Solomon Obiri‐Yeboah, Carmen J. Buxo, Terri Beaty, Margaret Taub, Peter Donkor, Mary L. Marazita, Oluwakemi Odukoya, Adebowale A. Adeyemo, Jeffrey C. Murray, Anya Prince, Azeez Butali
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 10, Pp n/a-n/a (2023)
Abstract 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 lar
Externí odkaz:
https://doaj.org/article/4d477af3634b4221a6b0a0f3e5017d57
Autor:
Waheed Awotoye, Peter A. Mossey, Jacqueline B. Hetmanski, Lord J. J. Gowans, Mekonen A. Eshete, Wasiu L. Adeyemo, Azeez Alade, Erliang Zeng, Olawale Adamson, Thirona Naicker, Deepti Anand, Chinyere Adeleke, Tamara Busch, Mary Li, Aline Petrin, Babatunde S. Aregbesola, Ramat O. Braimah, Fadekemi O. Oginni, Ayodeji O. Oladele, Abimbola Oladayo, Sami Kayali, Joy Olotu, Mohaned Hassan, John Pape, Peter Donkor, Fareed K. N. Arthur, Solomon Obiri-Yeboah, Daniel K. Sabbah, Pius Agbenorku, Gyikua Plange-Rhule, Alexander Acheampong Oti, Rose A. Gogal, Terri H. Beaty, Margaret Taub, Mary L. Marazita, Michael J. Schnieders, Salil A. Lachke, Adebowale A. Adeyemo, Jeffrey C. Murray, Azeez Butali
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
Abstract 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 protein-altering DNMs that contrib
Externí odkaz:
https://doaj.org/article/0796813889b94d029ee132863003d559
Autor:
Wanying Zhang, Sowmya Venkataraghavan, Jacqueline B. Hetmanski, Elizabeth J. Leslie, Mary L. Marazita, Eleanor Feingold, Seth M. Weinberg, Ingo Ruczinski, Margaret A. Taub, Alan F. Scott, Debashree Ray, Terri H. Beaty
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Two large studies of case–parent trios ascertained through a proband with a non-syndromic orofacial cleft (OFC, which includes cleft lip and palate, cleft lip alone, or cleft palate alone) were used to test for possible gene–environment (G × E)
Externí odkaz:
https://doaj.org/article/d2d845570c634b34a0d2c00920c5d220
Autor:
Debashree Ray, Sowmya Venkataraghavan, Wanying Zhang, Elizabeth J Leslie, Jacqueline B Hetmanski, Seth M Weinberg, Jeffrey C Murray, Mary L Marazita, Ingo Ruczinski, Margaret A Taub, Terri H Beaty
Publikováno v:
PLoS Genetics, Vol 17, Iss 7, p e1009584 (2021)
Based on epidemiologic and embryologic patterns, nonsyndromic orofacial clefts- the most common craniofacial birth defects in humans- are commonly categorized into cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which are t
Externí odkaz:
https://doaj.org/article/90525a7ed9d84f02a38684f2479cc4de
Autor:
Waheed, Awotoye, Peter A, Mossey, Jacqueline B, Hetmanski, Lord J J, Gowans, Mekonen A, Eshete, Wasiu L, Adeyemo, Azeez, Alade, Erliang, Zeng, Olawale, Adamson, Olutayo, James, Azeez, Fashina, Modupe O, Ogunlewe, Thirona, Naicker, Chinyere, Adeleke, Tamara, Busch, Mary, Li, Aline, Petrin, Abimbola, Oladayo, Sami, Kayali, Joy, Olotu, Veronica, Sule, Mohaned, Hassan, John, Pape, Emmanuel T, Aladenika, Peter, Donkor, Fareed K N, Arthur, Solomon, Obiri-Yeboah, Daniel K, Sabbah, Pius, Agbenorku, Debashree, Ray, Gyikua, Plange-Rhule, Alexander Acheampong, Oti, Daniah, Albokhari, Nara, Sobreira, Martine, Dunnwald, Terri H, Beaty, Margaret, Taub, Mary L, Marazita, Adebowale A, Adeyemo, Jeffrey C, Murray, Azeez, Butali
Publikováno v:
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.
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 could explain the risk o
Autor:
Ferdouse Begum, Ingo Ruczinski, John E Hokanson, Sharon M Lutz, Margaret M Parker, Michael H Cho, Jacqueline B Hetmanski, Robert B Scharpf, James D Crapo, Edwin K Silverman, Terri H Beaty
Publikováno v:
PLoS ONE, Vol 11, Iss 10, p e0164134 (2016)
Many well-powered genome-wide association studies have identified genetic determinants of self-reported smoking behaviors and measures of nicotine dependence, but most have not considered the role of structural variants, such as copy number variation
Externí odkaz:
https://doaj.org/article/e8e6eeca791542eba2db2fbfa1907bc6
Autor:
Waheed Awotoye, Peter A. Mossey, Jacqueline B. Hetmanski, Lord J. J. Gowans, Mekonen A. Eshete, Wasiu L. Adeyemo, Azeez Alade, Erliang Zeng, Olawale Adamson, Thirona Naicker, Deepti Anand, Chinyere Adeleke, Tamara Busch, Mary Li, Aline Petrin, Babatunde S. Aregbesola, Ramat O. Braimah, Fadekemi O. Oginni, Ayodeji O. Oladele, Abimbola Oladayo, Sami Kayali, Joy Olotu, Mohaned Hassan, John Pape, Peter Donkor, Fareed K. N. Arthur, Solomon Obiri-Yeboah, Daniel K. Sabbah, Pius Agbenorku, Gyikua Plange-Rhule, Alexander Acheampong Oti, Rose A. Gogal, Terri H. Beaty, Margaret Taub, Mary L. Marazita, Michael J. Schnieders, Salil A. Lachke, Adebowale A. Adeyemo, Jeffrey C. Murray, Azeez Butali
Publikováno v:
Scientific reports. 12(1)
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 of nsCL/P,
Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate
Autor:
Waheed Awotoye, Peter A Mossey, Jacqueline B Hetmanski, Lord J J Gowans, Mekonen A Eshete, Wasiu L Adeyemo, Azeez Alade, Erliang Zeng, Olawale Adamson, Olutayo James, Azeez Fashina, Modupe O Ogunlewe, Thirona Naicker, Chinyere Adeleke, Tamara Busch, Mary Li, Aline Petrin, Abimbola Oladayo, Sami Kayali, Joy Olotu, Veronica Sule, Mohaned Hassan, John Pape, Emmanuel T Aladenika, Peter Donkor, Fareed K N Arthur, Solomon Obiri-Yeboah, Daniel K Sabbah, Pius Agbenorku, Debashree Ray, Gyikua Plange-Rhule, Alexander Acheampong Oti, Daniah Albokhari, Nara Sobreira, Martine Dunnwald, Terri H Beaty, Margaret Taub, Mary L Marazita, Adebowale A Adeyemo, Jeffrey C Murray, Azeez Butali
Publikováno v:
The Cleft Palate-Craniofacial Journal. :105566562211359
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 could explain the risk o
Autor:
Tao Wu, Holger Schwender, Ingo Ruczinski, Jeffrey C Murray, Mary L Marazita, Ronald G Munger, Jacqueline B Hetmanski, Margaret M Parker, Ping Wang, Tanda Murray, Margaret Taub, Shuai Li, Richard J Redett, M Daniele Fallin, Kung Yee Liang, Yah Huei Wu-Chou, Samuel S Chong, Vincent Yeow, Xiaoqian Ye, Hong Wang, Shangzhi Huang, Ethylin W Jabs, Bing Shi, Allen J Wilcox, Sun Ha Jee, Alan F Scott, Terri H Beaty
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e88088 (2014)
Nonsyndromic cleft palate (CP) is one of the most common human birth defects and both genetic and environmental risk factors contribute to its etiology. We conducted a genome-wide association study (GWAS) using 550 CP case-parent trios ascertained in
Externí odkaz:
https://doaj.org/article/15d955c4715d4d6eac28bc45d965d600
Autor:
Margaret A. Taub, Debashree Ray, Ingo Ruczinski, Mary L. Marazita, Elizabeth J. Leslie, Sowmya Venkataraghavan, Jacqueline B. Hetmanski, Terri L Beaty, Wanying Zhang
Based on epidemiologic and embryologic patterns, nonsyndromic orofacial clefts are commonly categorized into cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP). While nearly forty risk genes have been identified for CL/P, few r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::789260076865567124cde4ac72817c35
https://doi.org/10.1101/2020.11.13.20231654
https://doi.org/10.1101/2020.11.13.20231654