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

Mitochondrial heteroplasmy is a risk factor for the development of chronic lymphocytic leukemia

线粒体异质性是慢性淋巴细胞白血病发生的危险因素。

Pasca, Sergiu; Hong, Yun Soo; Shi, Wen; Puiu, Daniela; Lake, Nicole J; Lek, Monkol; Guallar, Eliseo; Arking, Dan E; Gondek, Lukasz P

Dysregulation of Hippo Signaling Pathway as a Convergent Mechanism Underlying Choroid Plexus Defects in Bipolar Disorder

Hippo信号通路失调是双相情感障碍脉络丛缺陷的潜在机制

Kim, Jonghun; Choe, Museog; Kaya, Kutlu; Hu, Yue; Ng, Kenneth; Qiu, Caihong; Zhong, Mei; Yang, Woosub; Kiral, Ferdi; Scandura, Michael; Cha, Hyuk-Jin; Gruen, Jeffrey; Lek, Monkol; Jonas, Elizabeth; Blumberg, Hilary; Park, In-Hyun

Reversible compromise of physiological resilience by accumulation of heteroplasmic mtDNA mutations

异质性线粒体DNA突变的积累导致生理恢复力可逆性受损

Huang, Huihui; Wang, Yi; Zsengeller, Zsuzsanna K; Gorham, Joshua M; Vemireddy, Vamsidhara; Clark, Amanda J; Pan, Hui; Dreyfuss, Jonathan M; Jotwani, Vasantha; Shlipak, Michael G; Sarnak, Mark J; Parikh, Chirag R; Thiessen-Philbrook, Heather; Katz, Ronit; Waikar, Sushrut S; Lake, Nicole J; Lek, Monkol; Shi, Wen; Puiu, Daniela; Hong, Yun Soo; Seidman, Jonathan G; Arking, Dan E; Parikh, Samir M

Recessive genetic contribution to congenital heart disease in 5,424 probands

5424例先证者中隐性遗传因素对先天性心脏病的影响

Dong, Weilai; Jin, Sheng Chih; Sierant, Michael C; Lu, Ziyu; Li, Boyang; Lu, Qiongshi; Morton, Sarah U; Zhang, Junhui; López-Giráldez, Francesc; Nelson-Williams, Carol; Knight, James R; Zhao, Hongyu; Cao, Junyue; Mane, Shrikant; Gruber, Peter J; Lek, Monkol; Goldmuntz, Elizabeth; Deanfield, John; Giardini, Alessandro; Mital, Seema; Russell, Mark; Gaynor, J William; Cnota, James F; Wagner, Michael; Srivastava, Deepak; Bernstein, Daniel; Porter, George A Jr; Newburger, Jane; Roberts, Amy E; Yandell, Mark; Yost, H Joseph; Tristani-Firouzi, Martin; Kim, Richard; Seidman, Jonathan; Chung, Wendy K; Gelb, Bruce D; Seidman, Christine E; Lifton, Richard P; Brueckner, Martina

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes

对 11,555 名先证者的基因组分析鉴定出 60 个显性先天性心脏病基因

Sierant, Michael C; Jin, Sheng Chih; Bilguvar, Kaya; Morton, Sarah U; Dong, Weilai; Jiang, Wei; Lu, Ziyu; Li, Boyang; López-Giráldez, Francesc; Tikhonova, Irina; Zeng, Xue; Lu, Qiongshi; Choi, Jungmin; Zhang, Junhui; Nelson-Williams, Carol; Knight, James R; Zhao, Hongyu; Cao, Junyue; Mane, Shrikant; Sedore, Stanley C; Gruber, Peter J; Lek, Monkol; Goldmuntz, Elizabeth; Deanfield, John; Giardini, Alessandro; Mital, Seema; Russell, Mark; Gaynor, J William; King, Eileen; Wagner, Michael; Srivastava, Deepak; Shen, Yufeng; Bernstein, Daniel; Porter, George A Jr; Newburger, Jane W; Seidman, Jonathan G; Roberts, Amy E; Yandell, Mark; Yost, H Joseph; Tristani-Firouzi, Martin; Kim, Richard; Chung, Wendy K; Gelb, Bruce D; Seidman, Christine E; Brueckner, Martina; Lifton, Richard P

ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec

ODAD4相关原发性纤毛运动障碍:魁北克省五例病例及一个创始变异体的报告

Bourassa, Marie-Hélène; Sillon, Guillaume; Ding, Shuizi; Chioccioli, Maurizio; Lek, Monkol; Ma, Kaiyue; Mejia-Garcia, Alejandro; Gravel, Simon; Vinh, Donald C; Knowles, Michael R; Leigh, Margaret W; Davis, Stephanie D; Ferkol, Thomas; Olivier, Kenneth N; Schecterman, Elizabeth N; Yin, Weining; Sears, Patrick R; Gentzsch, Martina; Boyles, Susan E; Bennett, William D; Zeman, Kirby L; Ostrowski, Lawrence E; Zariwala, Maimoona A; Shapiro, Adam J

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

通过对超过6500个罕见病家族进行外显子组和基因组测序数据的系统分析,检测出线粒体DNA变异,从而解决了未确诊的病例。

Stenton, Sarah L; Laricchia, Kristen; Lake, Nicole J; Chaluvadi, Sushma; Ganesh, Vijay; DiTroia, Stephanie; Osei-Owusu, Ikeoluwa; Pais, Lynn; O'Heir, Emily; Austin-Tse, Christina; O'Leary, Melanie; Abu Shanap, Mayada; Barrows, Chelsea; Berger, Seth; Bönnemann, Carsten G; Bujakowska, Kinga M; Campagna, Dean R; Compton, Alison G; Donkervoort, Sandra; Fleming, Mark D; Gallacher, Lyndon; Gleeson, Joseph G; Haliloglu, Goknur; Pierce, Eric A; Place, Emily M; Sankaran, Vijay G; Shimamura, Akiko; Stark, Zornitza; Tan, Tiong Yang; Thorburn, David R; White, Susan M; Zaki, Maha S; Vilain, Eric; Lek, Monkol; Rehm, Heidi L; O'Donnell-Luria, Anne

Hypercholesterolemia-induced LXR signaling in smooth muscle cells contributes to vascular lesion remodeling and visceral function

高胆固醇血症诱导的平滑肌细胞LXR信号传导促进血管病变重塑和内脏功能

Zhang, Hanming; Sáenz de Urturi, Diego; Fernández-Tussy, Pablo; Huang, Yan; Jovin, Daniel G; Zhang, Xinbo; Huang, Shushu; Lek, Monkol; da Silva Catarino, Jonatas; Sternak, Magdalena; Citrin, Kathryn M; Swirski, Fillip K; Gustafsson, Jan-Åke; Greif, Daniel M; Esplugues, Enric; Biwer, Lauren A; Suárez, Yajaira; Fernández-Hernando, Carlos

Quantifying constraint in the human mitochondrial genome

量化人类线粒体基因组的约束

Lake, Nicole J; Ma, Kaiyue; Liu, Wei; Battle, Stephanie L; Laricchia, Kristen M; Tiao, Grace; Puiu, Daniela; Ng, Kenneth K; Cohen, Justin; Compton, Alison G; Cowie, Shannon; Christodoulou, John; Thorburn, David R; Zhao, Hongyu; Arking, Dan E; Sunyaev, Shamil R; Lek, Monkol

A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders

一种基于细胞类型的框架,用于识别孟德尔遗传调控障碍中的非编码变异。

Lee, Arthur S; Ayers, Lauren J; Kosicki, Michael; Chan, Wai-Man; Fozo, Lydia N; Pratt, Brandon M; Collins, Thomas E; Zhao, Boxun; Rose, Matthew F; Sanchis-Juan, Alba; Fu, Jack M; Wong, Isaac; Zhao, Xuefang; Tenney, Alan P; Lee, Cassia; Laricchia, Kristen M; Barry, Brenda J; Bradford, Victoria R; Jurgens, Julie A; England, Eleina M; Lek, Monkol; MacArthur, Daniel G; Lee, Eunjung Alice; Talkowski, Michael E; Brand, Harrison; Pennacchio, Len A; Engle, Elizabeth C