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Select item 105683751.

Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts

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

Mol Genet Genomic Med. 2023 Oct; 11(10): e2237. Published online 2023 Jul 26. doi: 10.1002/mgg3.2237

PMCID:: PMC10568375

Abstract Article PDF–1.0M

Select item 97955292.

Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations

Hanna K. Zieger, Leonie Weinhold, Axel Schmidt, Manuel Holtgrewe, Stefan A. Juranek, Anna Siewert, Annika B. Scheer, Frederic Thieme, Elisabeth Mangold, Nina Ishorst, Fabian U. Brand, Julia Welzenbach, Dieter Beule, Katrin Paeschke, Peter M. Krawitz, Kerstin U. Ludwig

HGG Adv. 2023 Jan 12; 4(1): 100166. Published online 2022 Dec 5. doi: 10.1016/j.xhgg.2022.100166

PMCID:: PMC9795529

Abstract Article PDF–1.8M

Select item 95166303.

Spatiotemporal MicroRNA-Gene Expression Network Related to Orofacial Clefts

F. Yan, L.M. Simon, A. Suzuki, C. Iwaya, P. Jia, J. Iwata, Z. Zhao

J Dent Res. 2022 Oct; 101(11): 1398–1407. Published online 2022 Jun 30. doi: 10.1177/00220345221105816

PMCID:: PMC9516630

Abstract Article PDF–3.2M

Select item 93073174.

Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate

Yao Yu, Rolando Alvarado, Lauren E Petty, Ryan J Bohlender, Douglas M Shaw, Jennifer E Below, Nada Bejar, Oscar E Ruiz, Bhavna Tandon, George T Eisenhoffer, Daniel L Kiss, Chad D Huff, Ariadne Letra, Jacqueline T Hecht

Hum Mol Genet. 2022 Jul 15; 31(14): 2348–2357. Published online 2022 Feb 11. doi: 10.1093/hmg/ddac037

PMCID:: PMC9307317

Abstract Article PDF–959K

Select item 92661965.

The Mafb cleft-associated variant H131Q is not required for palatogenesis in the mouse

Brian J. Paul, Kristina J. Palmer, Lindsey Rhea, Melissa Carlson, Jocelyn C. Sharp, C. Herbert Pratt, Stephen A. Murray, Martine Dunnwald

Dev Dyn. Author manuscript; available in PMC 2022 Jul 8.

Published in final edited form as: Dev Dyn. 2021 Oct; 250(10): 1463–1476. Published online 2021 Mar 27. doi: 10.1002/dvdy.327

PMCID:: PMC9266196

Abstract Article PDF–2.4M

Select item 86308276.

FAT4 Identified as a Potential Modifier of Orofacial Cleft Laterality

Sarah W. Curtis, Daniel Chang, Miranda R. Sun, Michael P. Epstein, Jeffrey C. Murray, Eleanor Feingold, Terri H. Beaty, Seth M. Weinberg, Mary L. Marazita, Robert J. Lipinski, Jenna C. Carlson, Elizabeth J. Leslie

Genet Epidemiol. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: Genet Epidemiol. 2021 Oct; 45(7): 721–735. Published online 2021 Jun 15. doi: 10.1002/gepi.22420

PMCID:: PMC8630827

Abstract Article PDF–1.2M

Select item 85409857.

PAX7, PAX9 and RYK Expression in Cleft Affected Tissue

Mārtiņš Vaivads, Ilze Akota, Māra Pilmane

Medicina (Kaunas) 2021 Oct; 57(10): 1075. Published online 2021 Oct 8. doi: 10.3390/medicina57101075

PMCID:: PMC8540985

Abstract Article PDF–1.3M

Select item 83119738.

Genome-Wide Association Study (GWAS) of dental caries in diverse populations

Rasha N. Alotaibi, Brian J. Howe, Jonathan M. Chernus, Nandita Mukhopadhyay, Carla Sanchez, Frederic W. B. Deleyiannis, Katherine Neiswanger, Carmencita Padilla, Fernando A. Poletta, Ieda M. Orioli, Carmen J. Buxó, Jacqueline T. Hecht, George L. Wehby, Ross E. Long, Alexandre R. Vieira, Seth M. Weinberg, John R. Shaffer, Lina M. Moreno Uribe, Mary L. Marazita

BMC Oral Health. 2021; 21: 377. Published online 2021 Jul 26. doi: 10.1186/s12903-021-01670-5

PMCID:: PMC8311973

Abstract Article PDF–1.9M

Select item 82702119.

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

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

PLoS Genet. 2021 Jul; 17(7): e1009584. Published online 2021 Jul 9. doi: 10.1371/journal.pgen.1009584

PMCID:: PMC8270211

Abstract Article PDF–2.8M

Select item 825625010.

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

M. He, X. Zuo, H. Liu, W. Wang, Y. Zhang, Y. Fu, Q. Zhen, Y. Yu, Y. Pan, C. Qin, B. Li, R. Yang, J. Wu, Z. Huang, H. Ge, H. Wu, Q. Xu, Y. Zuo, W. Chen, Y. Qin, Z. Liu, S. Chen, H. Zhang, F. Zhou, H. Yan, Y. Yu, L. Yong, G. Chen, B. Liang, R.A. Cornell, L. Zong, L. Wang, D. Zou, L. Sun, Z. Bian

J Dent Res. 2020 Dec; 99(13): 1461–1468. Published online 2020 Aug 6. doi: 10.1177/0022034520943867

PMCID:: PMC8256250

Abstract Article PDF–1.1M

Select item 824030811.

Evaluating shared genetic influences on nonsyndromic cleft lip/palate and oropharyngeal neoplasms

Laurence J. Howe, Gibran Hemani, Corina Lesseur, Valérie Gaborieau, Kerstin U. Ludwig, Elisabeth Mangold, Paul Brennan, Andy R. Ness, Beate St Pourcain, George Davey Smith, Sarah J. Lewis

Genet Epidemiol. 2020 Nov; 44(8): 924–933. Published online 2020 Jul 24. doi: 10.1002/gepi.22343

PMCID:: PMC8240308

Abstract Article PDF–499K

Select item 773019612.

Deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate

Mimi Yow, Nuno V. Hermann, Yuan Wei, Agneta Karsten, Sven Kreiborg

Sci Rep. 2020; 10: 21666. Published online 2020 Dec 10. doi: 10.1038/s41598-020-78602-w

PMCID:: PMC7730196

Abstract Article PDF–1011K

Select item 769357913.

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

Yunju Yang, Akiko Suzuki, Junichi Iwata, Goo Jun

Genes (Basel) 2020 Nov; 11(11): 1280. Published online 2020 Oct 29. doi: 10.3390/genes11111280

PMCID:: PMC7693579

Abstract Article PDF–673K

Select item 699266714.

Methylenetetrahydrofolate reductase C677T polymorphism is not associated with the risk of nonsyndromic cleft lip/palate: An updated meta-analysis

Mohammad Moslem Imani, Negin Golchin, Mohsen Safaei, Farzad Rezaei, Hooshyar Abbasi, Masoud Sadeghi, Pia Lopez-Jornet, Hamid Reza Mozaffari, Roohollah Sharifi

Sci Rep. 2020; 10: 1531. Published online 2020 Jan 30. doi: 10.1038/s41598-020-58357-0

PMCID:: PMC6992667

Abstract Article PDF–5.7M

Select item 694759715.

Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene

Iris ALM van Rooij, Kerstin U Ludwig, Julia Welzenbach, Nina Ishorst, Michelle Thonissen, Tessel E Galesloot, Edwin Ongkosuwito, Stefaan J Bergé, Khalid Aldhorae, Augusto Rojas-Martinez, Lambertus ALM Kiemeney, Joris Robert Vermeesch, Han Brunner, Nel Roeleveld, Koen Devriendt, Titiaan Dormaar, Greet Hens, Michael Knapp, Carine Carels, Elisabeth Mangold

Genes (Basel) 2019 Dec; 10(12): 1023. Published online 2019 Dec 7. doi: 10.3390/genes10121023

PMCID:: PMC6947597

Abstract Article PDF–1.5M

Select item 689579016.

Deregulated Adhesion Program in Palatal Keratinocytes of Orofacial Cleft Patients

Aysel Mammadova, Carine E.L. Carels, Jie Zhou, Christian Gilissen, Maria P.A.C. Helmich, Zhuan Bian, Huiqing Zhou, Johannes W. Von den Hoff

Genes (Basel) 2019 Nov; 10(11): 836. Published online 2019 Oct 23. doi: 10.3390/genes10110836

PMCID:: PMC6895790

Abstract Article PDF–1.5M

Select item 681285717.

Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft

Lulin Huang, Zhonglin Jia, Yi Shi, Qin Du, Jiayu Shi, Ziyan Wang, Yandong Mou, Qingwei Wang, Bihe Zhang, Qing Wang, Shi Ma, He Lin, Shijun Duan, Bin Yin, Yansong Lin, Yiru Wang, Dan Jiang, Fang Hao, Lin Zhang, Haixin Wang, Suyuan Jiang, Huijuan Xu, Chengwei Yang, Chenghao Li, Jingtao Li, Bing Shi, Zhenglin Yang

PLoS Genet. 2019 Oct; 15(10): e1008357. Published online 2019 Oct 14. doi: 10.1371/journal.pgen.1008357

PMCID:: PMC6812857

Abstract Article PDF–2.3M

Select item 676486618.

Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans

Timothy C. Cox, Andrew C. Lidral, Jason C. McCoy, Huan Liu, Liza L. Cox, Ying Zhu, Ryan D. Anderson, Lina M. Moreno Uribe, Deepti Anand, Mei Deng, Chika T. Richter, Nichole L. Nidey, Jennifer M. Standley, Elizabeth E. Blue, Jessica X. Chong, Joshua D. Smith, Edwin P. Kirk, Hanka Venselaar, Katy N. Krahn, Hans van Bokhoven, Huiqing Zhou, Robert A. Cornell, Ian A. Glass, Michael J. Bamshad, Deborah A. Nickerson, Jeffrey C. Murray, Salil A. Lachke, Thomas B. Thompson, Michael F. Buckley, Tony Roscioli

Hum Mutat. Author manuscript; available in PMC 2020 Oct 1.

Published in final edited form as: Hum Mutat. 2019 Oct; 40(10): 1813–1825. Published online 2019 Jun 18. doi: 10.1002/humu.23793

PMCID:: PMC6764866

Abstract Article PDF–1.6M

Select item 668672419.

Risk factors for orofacial clefts in India: A case–control study

Sutapa Bandyopadhyay Neogi, Samiksha Singh, Dinesh Raj Pallepogula, Hira Pant, Sunanda Reddy Kolli, Priyanka Bharti, Vikram Datta, Srinivas Reddy Gosla, Krishnamurthy Bonanthaya, Andy Ness, Sanjay Kinra, Pat Doyle, Venkata Satyanarayana Murthy Gudlavalleti

Birth Defects Res. 2017 Oct 2; 109(16): 1284–1291. Published online 2017 Aug 2. doi: 10.1002/bdr2.1073

PMCID:: PMC6686724

Abstract Article PDF–158K

Select item 662505120.

Congenital anomalies prevalence in Addis Ababa and the Amhara region, Ethiopia: a descriptive cross-sectional study

Molla Taye, Mekbeb Afework, Wondwossen Fantaye, Ermias Diro, Alemayehu Worku

BMC Pediatr. 2019; 19: 234. Published online 2019 Jul 11. doi: 10.1186/s12887-019-1596-2

PMCID:: PMC6625051

Abstract Article PDF–823K

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