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

Ancient regulatory evolution shapes individual language abilities in present-day humans

远古的调控进化塑造了现代人类的个体语言能力。

Casten, Lucas G; Koomar, Tanner; Thomas, Taylor R; Koh, Jin-Young; Hofammann, Dabney; Thenuwara, Savantha; Momany, Allison; O'Brien, Marlea; Murray, Jeffrey C; Tomblin, J Bruce; Michaelson, Jacob J

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

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

Salvage therapies for first relapse of SHH medulloblastoma in early childhood

儿童早期SHH型髓母细胞瘤首次复发的挽救治疗

Erker, Craig; Mynarek, Martin; Simbozel, Marie; Craig, Brandon T; Harrod, Virginia L; Cappellano, Andrea M; Cohen, Kenneth J; Lopez, Vicente Santa-Maria; Morales La Madrid, Andres; Cacciotti, Chantel; Baroni, Lorena; Salloum, Ralph; Margol, Ashley S; Michaiel, George; Aguilera, Dolly; Mazewski, Claire M; Kline, Cassie N; Finlay, Jonathan L; Abdelbaki, Mohamed S; Murray, Jeffrey C; Dorris, Kathleen; Crooks, Bruce; Ginn, Kevin F; Amayiri, Nisreen; Tippelt, Stephan; Fleischhack, Gudrun; Tonn, Svenja; Gerber, Nicolas U; Lassaletta, Alvaro; Hansford, Jordan R; Khan, Sara; Gilheeney, Stephen W; Hoffman, Lindsey M; Zapotocky, Michal; Larouche, Valérie; Shah, Shafqat; Ramaswamy, Vijay; Gajjar, Amar; Perreault, Sébastien; Mueller, Sabine; Hukin, Juliette; Cheng, Sylvia; Wang, Zhihong J; Matheson, Kara; Bailey, Simon; Bouffet, Eric; Clifford, Steven C; Robinson, Giles; Dufour, Christelle; Rutkowski, Stefan; Lafay-Cousin, Lucie

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios

通过分析818个三联体中改变蛋白质的新生变异,区分综合征型和非综合征型腭裂。

Robinson, Kelsey R; Curtis, Sarah W; Paschall, Justin E; Adeyemo, Wasiu Lanre; Beaty, Terri H; Butali, Azeez; Buxó, Carmen J; Cutler, David J; Epstein, Michael P; Gowans, Lord J J; Hecht, Jacqueline T; Shaw, Gary M; Uribe, Lina Moreno; Murray, Jeffrey C; Brand, Harrison; Weinberg, Seth M; Marazita, Mary L; Doheny, Kimberly F; Leslie-Clarkson, Elizabeth J

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy

PRKCI 的罕见变异导致 Van der Woude 综合征和皮周病的其他特征

Robinson, Kelsey; Singh, Sunil K; Walkup, Rachel B; Fawwal, Dorelle V; Vilfort, Kendra M; Koloskee, Amanda; Fashina, Azeez; Adeyemo, Wasiu Lanre; Beaty, Terri H; Butali, Azeez; Buxó, Carmen J; Chung, Wendy K; Cutler, David J; Epstein, Michael P; Gasser, Brooklynn; Gowans, Lord J J; Hecht, Jacqueline T; Mankad, Anuj; Moreno Uribe, Lina; Scott, Daryl A; Shaw, Gary M; Thomas, Mary Ann; Weinberg, Seth M; Liao, Eric C; Brand, Harrison; Marazita, Mary L; Lipinski, Robert J; Murray, Jeffrey C; Cornell, Robert A; Leslie-Clarkson, Elizabeth J

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

Building a growing genomic repository for maternal and fetal health through the PING Consortium

通过 PING 联盟构建不断增长的母婴健康基因组库

Abdelmalek, Clara M; Singh, Shriya; Fasil, Blain; Horvath, Allison R; Mulkey, Sarah B; Curé, Carlos; Campos, Maribel; Cavalcanti, Denise P; Tong, Van T; Mercado, Marcela; Daza, Marcela; Benavides, Mónica Marcela; Acosta, Jacqueline; Gilboa, Suzanne; Valencia, Diana; Sancken, Christina L; Newton, Suzanne; Scalabrin, Deolinda M F; Mussi-Pinhata, Marisa M; Vasconcelos, Zilton; Chakhtoura, Nahida; Moye, Jack; Leslie, Elizabeth J; Bulas, Dorothy; Vezina, Gilbert; Marques, Fernanda J P; Leyser, Marcio; Del Campo, Miguel; Vilain, Eric; DeBiasi, Roberta L; Wang, Tongguang; Nath, Avindra; Haydar, Tarik; Muenke, Max; Mansour, Tamer A; du Plessis, Adre J; Murray, Jeffrey C; Cordero, José F; Kousa, Youssef A

Gene-by-Environment Interactions Involving Maternal Exposures with Orofacial Cleft Risk in Filipinos

菲律宾人唇腭裂风险中涉及母体暴露的基因-环境相互作用

Erdogan-Yildirim, Zeynep; Carlson, Jenna C; Mukhopadhyay, Nandita; Leslie-Clarkson, Elizabeth J; Padilla, Carmencita D; Murray, Jeffrey C; Beaty, Terri H; Weinberg, Seth M; Marazita, Mary L; Shaffer, John R