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

Gene expression dynamics of human and mouse craniofacial development at the single-cell level

人类和小鼠颅面发育的单细胞水平基因表达动态

Khouri-Farah, Nagham; Manchel, Alexandra; Wentworth Winchester, Emma; Schilder, Brian M; Robinson, Kelsey; Curtis, Sarah W; Skene, Nathan G; Leslie-Clarkson, Elizabeth J; Cotney, Justin

Actomyosin contractility and a threshold of cadherin cell adhesion are required during tissue fusion.

组织融合过程中需要肌动球蛋白的收缩性和钙黏蛋白细胞粘附的阈值。

Teng Camilla S, Curtis Sarah W, Brewer Grace C, Leslie-Clarkson Elizabeth J, Bush Jeffrey O

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

Identification of functional non-coding variants associated with orofacial cleft.

鉴定与唇腭裂相关的非编码功能变异

Kumari Priyanka, Friedman Ryan Z, Curtis Sarah W, Pi Lira, Paraiso Kitt, Visel Axel, Rhea Lindsey, Dunnwald Martine, Patni Anjali P, Mar Daniel, Bomsztyk Karol, Mathieu Julie, Ruohola-Baker Hannele, Leslie-Clarkson Elizabeth J, White Michael A, Cohen Barak A, Cornell Robert A

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

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

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

Gene expression patterns of the developing human face at single cell resolution reveal cell type contributions to normal facial variation and disease risk

单细胞分辨率下发育中人脸的基因表达模式揭示了不同细胞类型对正常面部变异和疾病风险的贡献。

Khouri-Farah, Nagham; Winchester, Emma Wentworth; Schilder, Brian M; Robinson, Kelsey; Curtis, Sarah W; Skene, Nathan G; Leslie-Clarkson, Elizabeth J; Cotney, Justin

Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts

研究唇腭裂中新生变异的基因功能和单细胞表达谱

Itai, Toshiyuki; Yan, Fangfang; Liu, Andi; Dai, Yulin; Iwaya, Chihiro; Curtis, Sarah W; Leslie, Elizabeth J; Simon, Lukas M; Jia, Peilin; Chen, Xiangning; Iwata, Junichi; Zhao, Zhongming