日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Visions, expectations, and reservations in epigenetic editing: towards responsible innovation

表观遗传编辑的愿景、期望和顾虑:迈向负责任的创新

Heinsberg, Lacey W; Liu, Dongjing; Shaffer, John R; Weeks, Daniel E; Conley, Yvette P; van Baalen, Sophie; Verra, Thomas; Macnaghten, Phil; Bunnik, Eline; Habets, Michelle GJL

The craniofacial shape of modern humans embodies genomic signatures of evolution, diversity, and clinical conditions

现代人类的颅面形态体现了进化、多样性和临床状况的基因组特征。

Goovaerts, Seppe; Devine, Jay; Claessens, Nina; Gabbita, Sameer; Deprest, Jolien; Pauwels, Kaat; Herrick, Noah; Mohammed, Jaaved; Mounier, Aurélien; Sofer, Tamar; Long, Hannah K; Bartsch, Ullrich; Hallgrímsson, Benedikt; Lewis, Sarah J; Richmond, Stephen; Bauermeister, Sarah; Walsh, Susan; Shaffer, John R; Shriver, Mark D; Naqvi, Sahin; Wysocka, Joanna; Kivisild, Toomas; Weinberg, Seth M; Claes, Peter

Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanation

7p14.1是唇腭裂风险位点吗?对多个群体拷贝数变异的全基因组研究既重复了之前的研究结果,也提供了一种新的解释。

Mukhopadhyay, Nandita; Feingold, Eleanor E; Brand, Harrison; Lee, Myoung Keun; Kurtas, Edibe Nehir; Sanchis-Juan, Alba; Moreno-Uribe, Lina; Wehby, George; Valencia-Ramirez, Luz Consuelo; Muñeton, Claudia P Restrepo; Padilla, Carmencita; Deleyiannis, Frederic; Poletta, Fernando A; Orioli, Ieda M; Hecht, Jacqueline T; Buxó, Carmen J; Butali, Azeez; Adeyemo, Wasiu L; Abebe, Mekonen Eshete; Vieira, Alexandre R; Shaffer, John R; Murray, Jeffrey C; Weinberg, Seth M; Ruczinski, Ingo; Leslie-Clarkson, Elizabeth J; Marazita, Mary L

Leveraging the genetics of human face shape boosts the discovery of orofacial cleft risk loci

利用人类面部形状的遗传学信息可以促进唇腭裂风险基因位点的发现。

Herrick, Noah; Goovaerts, Seppe; Manchel, Alexandra; Lee, Myoung Keun; Zhang, Xinyi; Davies, Amy; Carlson, Jenna C; Leslie-Clarkson, Elizabeth J; Lewis, Sarah J; Marazita, Mary L; Cotney, Justin; Claes, Peter; Shaffer, John R; Weinberg, Seth M

Trio-based GWAS reveals novel loci associated with different forms of isolated cleft lip

基于三联体的全基因组关联研究揭示了与不同类型孤立性唇裂相关的新基因位点

Herrick, Noah; Erdogan-Yildirim, Zeynep; Lee, Myoung Keun; Curtis, Sarah W; Berke, Seth; Brewer, Grace; McHenry, Toby; El Sergani, Ahmed M; Anderton, Joel; Mukhopadhyay, Nandita; Carlson, Jenna C; Beaty, Terri; Butali, Azeez; Buxo-Martinez, Carmen J; Hecht, Jacqueline T; Liao, Eric; Moreno Uribe, Lina M; Padilla, Carmencita D; Wehby, George; Feingold, Eleanor; Murray, Jeffrey C; Ruczinski, Ingo; Leslie-Clarkson, Elizabeth J; Weinberg, Seth M; Shaffer, John R; Marazita, Mary L

Optimized phenotyping of complex morphological traits: enhancing discovery of common and rare genetic variants

优化复杂形态特征的表型分析:增强常见和罕见遗传变异的发现

Yuan, Meng; Goovaerts, Seppe; Lee, Myoung K; Devine, Jay; Richmond, Stephen; Walsh, Susan; Shriver, Mark D; Shaffer, John R; Marazita, Mary L; Peeters, Hilde; Weinberg, Seth M; Claes, Peter

Enhanced insights into the genetic architecture of 3D cranial vault shape using pleiotropy-informed GWAS

利用多效性信息全基因组关联分析,加深对三维颅盖形态遗传结构的理解。

Goovaerts, Seppe; Naqvi, Sahin; Hoskens, Hanne; Herrick, Noah; Yuan, Meng; Shriver, Mark D; Shaffer, John R; Walsh, Susan; Weinberg, Seth M; Wysocka, Joanna; Claes, Peter

Genetic susceptibility to oral and atherosclerotic cardiovascular diseases based on dental and heart SCORE studies

基于牙科和心脏SCORE研究的口腔和动脉粥样硬化性心血管疾病的遗传易感性

Bezamat, Mariana; Baxter, Dylan J; Mukhopadhyay, Nandita; Saeed, Anum; Liu, Lei; de Las Fuentes, Lisa; Foxman, Betsy; Shaffer, John R; McNeil, Daniel W; Reis, Steven E; Marazita, Mary L

Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk

CALD1、ESRP1 和 RBFOX1 的变异与唇腭裂风险相关。

Carlson, Jenna C; Zhang, Xinyi; Erdogan-Yildirim, Zeynep; Beaty, Terri H; Butali, Azeez; Buxó, Carmen J; Gowans, Lord J J; Hecht, Jacqueline T; Long, Ross E; Moreno, Lina; Murray, Jeffrey C; Orioli, Ieda M; Padilla, Carmencita; Wehby, George L; Feingold, Eleanor; Leslie-Clarkson, Elizabeth J; Weinberg, Seth M; Marazita, Mary L; Shaffer, John R

Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans

GRHL2基因单倍体不足与人类唇腭裂有关

Curtis, Sarah W; Yang, Cinderella; Sanchis-Juan, Alba; Singleton, Katherine; Beaty, Terri H; Erger, Florian; Epstein, Michael P; Feingold, Eleanor; Krause, Max; Moreno Uribe, Lina M; Netzer, Christian; Padilla, Carmencita D; Shaffer, John R; Weinberg, Seth M; Carlson, Jenna C; Velmans, Clara; Murray, Jeffrey C; Dworkin, Seb; Marazita, Mary L; Brand, Harrison; Leslie-Clarkson, Elizabeth J