Búsqueda | Biblioteca Virtual en Salud Odontología. Uruguay

1.

The heterogeneous genetic architectures of orofacial clefts.

Robinson, Kelsey; Curtis, Sarah W; Leslie, Elizabeth J.

Trends Genet ; 40(5): 410-421, 2024 May.

Artículo en Inglés | MEDLINE | ID: mdl-38480105

2.

POIROT: a powerful test for parent-of-origin effects in unrelated samples leveraging multiple phenotypes.

Head, S Taylor; Leslie, Elizabeth J; Cutler, David J; Epstein, Michael P.

Bioinformatics ; 39(4)2023 04 03.

Artículo en Inglés | MEDLINE | ID: mdl-37067493

3.

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

Ray, Debashree; Venkataraghavan, Sowmya; Zhang, Wanying; Leslie, Elizabeth J; Hetmanski, Jacqueline B; Weinberg, Seth M; Murray, Jeffrey C; Marazita, Mary L; Ruczinski, Ingo; Taub, Margaret A; Beaty, Terri H.

PLoS Genet ; 17(7): e1009584, 2021 07.

Artículo en Inglés | MEDLINE | ID: mdl-34242216

4.

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

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

Genet Epidemiol ; 46(3-4): 182-198, 2022 04.

Artículo en Inglés | MEDLINE | ID: mdl-35191549

5.

Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes.

Curtis, Sarah W; Carlson, Jenna C; Beaty, Terri H; Murray, Jeffrey C; Weinberg, Seth M; Marazita, Mary L; Cotney, Justin L; Cutler, David J; Epstein, Michael P; Leslie, Elizabeth J.

Hum Genet ; 142(10): 1531-1541, 2023 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-37676273

6.

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

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

Am J Hum Genet ; 107(1): 124-136, 2020 07 02.

Artículo en Inglés | MEDLINE | ID: mdl-32574564

7.

Embracing human genetics: a primer for developmental biologists.

Leslie, Elizabeth J.

Development ; 147(21)2020 07 02.

Artículo en Inglés | MEDLINE | ID: mdl-32616565

8.

FaceBase 3: analytical tools and FAIR resources for craniofacial and dental research.

Samuels, Bridget D; Aho, Robert; Brinkley, James F; Bugacov, Alejandro; Feingold, Eleanor; Fisher, Shannon; Gonzalez-Reiche, Ana S; Hacia, Joseph G; Hallgrimsson, Benedikt; Hansen, Karissa; Harris, Matthew P; Ho, Thach-Vu; Holmes, Greg; Hooper, Joan E; Jabs, Ethylin Wang; Jones, Kenneth L; Kesselman, Carl; Klein, Ophir D; Leslie, Elizabeth J; Li, Hong; Liao, Eric C; Long, Hannah; Lu, Na; Maas, Richard L; Marazita, Mary L; Mohammed, Jaaved; Prescott, Sara; Schuler, Robert; Selleri, Licia; Spritz, Richard A; Swigut, Tomek; van Bakel, Harm; Visel, Axel; Welsh, Ian; Williams, Cristina; Williams, Trevor J; Wysocka, Joanna; Yuan, Yuan; Chai, Yang.

Development ; 147(18)2020 09 21.

Artículo en Inglés | MEDLINE | ID: mdl-32958507

9.

Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting.

Diaz Perez, Kimberly K; Curtis, Sarah W; Sanchis-Juan, Alba; Zhao, Xuefang; Head, Taylor; Ho, Samantha; Carter, Bridget; McHenry, Toby; Bishop, Madison R; Valencia-Ramirez, Luz C; Restrepo, Claudia; Hecht, Jacqueline T; Uribe, Lina M; Wehby, George; Weinberg, Seth M; Beaty, Terri H; Murray, Jeffrey C; Feingold, Eleanor; Marazita, Mary L; Cutler, David J; Epstein, Michael P; Brand, Harrison; Leslie, Elizabeth J.

Genet Med ; 25(10): 100918, 2023 10.

Artículo en Inglés | MEDLINE | ID: mdl-37330696

10.

Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?

Diaz Perez, Kimberly K; Chung, Sydney; Head, S Taylor; Epstein, Michael P; Hecht, Jacqueline T; Wehby, George L; Weinberg, Seth M; Murray, Jeffrey C; Marazita, Mary L; Leslie, Elizabeth J.

Am J Med Genet A ; 191(10): 2558-2570, 2023 10.

Artículo en Inglés | MEDLINE | ID: mdl-37350193

11.

FAT4 identified as a potential modifier of orofacial cleft laterality.

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

Genet Epidemiol ; 45(7): 721-735, 2021 10.

Artículo en Inglés | MEDLINE | ID: mdl-34130359

12.

A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.

Neilson, Derek E; Zech, Michael; Hufnagel, Robert B; Slone, Jesse; Wang, Xinjian; Homan, Shelli; Gutzwiller, Lisa M; Leslie, Elizabeth J; Leslie, Nancy D; Xiao, Jianfeng; Hedera, Peter; LeDoux, Mark S; Gebelein, Brian; Wilbert, Friederike; Eckenweiler, Matthias; Winkelmann, Juliane; Gilbert, Donald L; Huang, Taosheng.

Mov Disord ; 37(2): 375-383, 2022 02.

Artículo en Inglés | MEDLINE | ID: mdl-34636445

13.

Efficient estimation of indirect effects in case-control studies using a unified likelihood framework.

Satten, Glen A; Curtis, Sarah W; Solis-Lemus, Claudia; Leslie, Elizabeth J; Epstein, Michael P.

Stat Med ; 41(15): 2879-2893, 2022 07 10.

Artículo en Inglés | MEDLINE | ID: mdl-35352841

14.

Genetic models and approaches to study orofacial clefts.

Leslie, Elizabeth J.

Oral Dis ; 28(5): 1327-1338, 2022 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-34923716

15.

Feasibility of Social Media Recruitment for Orofacial Cleft Genetic Research.

Carlock, Grace; Manning, Kelly; Leslie, Elizabeth J.

Cleft Palate Craniofac J ; 59(6): 701-707, 2022 06.

Artículo en Inglés | MEDLINE | ID: mdl-34121473

16.

Heritability Analysis in Twins Indicates a Genetic Basis for Velopharyngeal Morphology.

Lee, Myoung Keun; Liu, Chenxing; Leslie, Elizabeth J; Shaffer, John R; Perry, Jamie L; Weinberg, Seth M.

Cleft Palate Craniofac J ; 59(11): 1340-1345, 2022 11.

Artículo en Inglés | MEDLINE | ID: mdl-34605288

17.

The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.

Kousa, Youssef A; Zhu, Huiping; Fakhouri, Walid D; Lei, Yunping; Kinoshita, Akira; Roushangar, Raeuf R; Patel, Nicole K; Agopian, A J; Yang, Wei; Leslie, Elizabeth J; Busch, Tamara D; Mansour, Tamer A; Li, Xiao; Smith, Arianna L; Li, Edward B; Sharma, Dhruv B; Williams, Trevor J; Chai, Yang; Amendt, Brad A; Liao, Eric C; Mitchell, Laura E; Bassuk, Alexander G; Gregory, Simon; Ashley-Koch, Allison; Shaw, Gary M; Finnell, Richard H; Schutte, Brian C.

Hum Mol Genet ; 28(10): 1726-1737, 2019 05 15.

Artículo en Inglés | MEDLINE | ID: mdl-30689861

18.

Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.

Sanchez Russo, Rossana; Gambello, Michael J; Murphy, Melissa M; Aberizk, Katrina; Black, Emily; Burrell, T Lindsey; Carlock, Grace; Cubells, Joseph F; Epstein, Michael T; Espana, Roberto; Goines, Katrina; Guest, Ryan M; Klaiman, Cheryl; Koh, Sookyong; Leslie, Elizabeth J; Li, Longchuan; Novacek, Derek M; Saulnier, Celine A; Sefik, Esra; Shultz, Sarah; Walker, Elaine; White, Stormi Pulver; Mulle, Jennifer Gladys.

Genet Med ; 23(5): 872-880, 2021 05.

Artículo en Inglés | MEDLINE | ID: mdl-33564151

19.

A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals.

Carlson, Jenna C; Anand, Deepti; Butali, Azeez; Buxo, Carmen J; Christensen, Kaare; Deleyiannis, Frederic; Hecht, Jacqueline T; Moreno, Lina M; Orioli, Ieda M; Padilla, Carmencita; Shaffer, John R; Vieira, Alexandre R; Wehby, George L; Weinberg, Seth M; Murray, Jeffrey C; Beaty, Terri H; Saadi, Irfan; Lachke, Salil A; Marazita, Mary L; Feingold, Eleanor; Leslie, Elizabeth J.

Genet Epidemiol ; 43(6): 704-716, 2019 09.

Artículo en Inglés | MEDLINE | ID: mdl-31172578

20.

Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21.

Mukhopadhyay, Nandita; Bishop, Madison; Mortillo, Michael; Chopra, Pankaj; Hetmanski, Jacqueline B; Taub, Margaret A; Moreno, Lina M; Valencia-Ramirez, Luz Consuelo; Restrepo, Claudia; Wehby, George L; Hecht, Jacqueline T; Deleyiannis, Frederic; Butali, Azeez; Weinberg, Seth M; Beaty, Terri H; Murray, Jeffrey C; Leslie, Elizabeth J; Feingold, Eleanor; Marazita, Mary L.

Hum Genet ; 139(2): 215-226, 2020 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-31848685

Biblioteca Virtual en Salud Odontología. Uruguay

Información y Conocimiento para la Salud

Configurar filtros

Su selección (0)

Formato de exportación:

Exportar: