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

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

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

Functional Annotation of De Novo Variants Found Near GWAS Loci Associated With Cleft Lip With or Without Cleft Palate

对与唇裂(伴或不伴腭裂)相关的 GWAS 位点附近发现的新生变异进行功能注释

Curtis, Sarah W; Cook, Laura E; Paraiso, Kitt; Visel, Axel; Cotney, Justin L; Murray, Jeffrey C; Beaty, Terri H; Marazita, Mary L; Carlson, Jenna C; Leslie-Clarkson, Elizabeth J

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 816 trios

通过分析816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; Beaty, Terri H; Butali, Azeez; Buxó, Carmen J; Cutler, David J; Epstein, Michael P; Hecht, Jacqueline T; Uribe, Lina Moreno; Shaw, Gary M; Murray, Jeffrey C; Brand, Harrison; Weinberg, Seth M; Marazita, Mary L; Doheny, Kimberly F; Leslie-Clarkson, Elizabeth J

Estimation of Direct and Indirect Polygenic Effects and Gene-Environment Interactions using Polygenic Scores in Case-Parent Trio Studies

利用病例-父母三联体研究中的多基因评分估计直接和间接多基因效应以及基因-环境相互作用

Wang, Ziqiao; Grosvenor, Luke; Ray, Debashree; Cheng, Tianyuan; Ruczinski, Ingo; Beaty, Terri H; Volk, Heather; Ladd-Acosta, Christine; Chatterjee, Nilanjan

Early Evidence of Chronic Obstructive Pulmonary Disease Obscured by Race-Specific Prediction Equations

种族特异性预测方程掩盖了慢性阻塞性肺疾病的早期证据

Regan, Elizabeth A; Lowe, Melissa E; Make, Barry J; Curtis, Jeffrey L; Chen, Quan Grace; Crooks, James L; Wilson, Carla; Oates, Gabriela R; Gregg, Robert W; Baldomero, Arianne K; Bhatt, Surya P; Diaz, Alejandro A; Benos, Panayiotis V; O'Brien, James K; Young, Kendra A; Kinney, Gregory L; Conrad, Douglas J; Lowe, Katherine E; DeMeo, Dawn L; Non, Amy; Cho, Michael H; Kallet, Julia; Foreman, Marilyn G; Westney, Gloria E; Hoth, Karin; MacIntyre, Neil R; Hanania, Nicola A; Wolfe, Amy; Amaza, Hannatu; Han, MeiLan; Beaty, Terri H; Hansel, Nadia N; McCormack, Meredith C; Balasubramanian, Aparna; Crapo, James D; Silverman, Edwin K; Casaburi, Richard; Wise, Robert A

Multi-omics in nasal epithelium reveals three axes of dysregulation for asthma risk in the African Diaspora populations

鼻上皮多组学研究揭示了非洲裔人群哮喘风险的三个失调轴

Szczesny, Brooke; Boorgula, Meher Preethi; Chavan, Sameer; Campbell, Monica; Johnson, Randi K; Kammers, Kai; Thompson, Emma E; Cox, Madison S; Shankar, Gautam; Cox, Corey; Morin, Andréanne; Lorizio, Wendy; Daya, Michelle; Kelada, Samir N P; Beaty, Terri H; Doumatey, Ayo P; Cruz, Alvaro A; Watson, Harold; Naureckas, Edward T; Giles, B Louise; Arinola, Ganiyu A; Sogaolu, Olumide; Falade, Adegoke G; Hansel, Nadia N; Yang, Ivana V; Olopade, Christopher O; Rotimi, Charles N; Landis, R Clive; Figueiredo, Camila A; Altman, Matthew C; Kenny, Eimear; Ruczinski, Ingo; Liu, Andrew H; Ober, Carole; Taub, Margaret A; Barnes, Kathleen C; Mathias, Rasika A