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

Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing

胸主动脉夹层病例和马凡综合征患者中存在非典型剪接变异,但基因检测结果为阴性

Murdock, David R; Guo, Dong-Chuan; DePaolo, John S; Schwarze, Ulrike; Duan, Xue-Yan; Cecchi, Alana C; Marin, Isabella C; Tang, YingYing; Chong, Jessica X; Bamshad, Michael J; Leppig, Kathleen A; Byers, Peter H; Damrauer, Scott M; Milewicz, Dianna M

Loss of function variants in ADAMTS6 : Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS)

ADAMTS6 功能缺失变异:结缔组织、心脏缺陷、胸主动脉瘤和神经发育综合征 (CHANS)

Huguet Herrero, Júlia; Arnaud, Pauline; Bibimbou, Angelique; Seifert, Deborah E; Mougin, Zakaria; Benarroch, Louise; Michot, Caroline; Capri, Yline; Ruaud, Lyse; Dupuis-Girod, Sophie; Guilhem, Alexandre; Beyer, Constance; Bajolle, Fanny; Milleron, Oliver; Jondeau, Guillaume; Hanna, Nadine; Reinhardt, Dieter P; Guo, Dong-Chuan; Milewicz, Dianna; Boileau, Catherine; Aubart, Mélodie; Mead, Timothy J; Le Goff, Carine

Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program

百万退伍军人计划中胸主动脉瘤和夹层的全基因组关联研究

Klarin, Derek; Devineni, Poornima; Sendamarai, Anoop K; Angueira, Anthony R; Graham, Sarah E; Shen, Ying H; Levin, Michael G; Pirruccello, James P; Surakka, Ida; Karnam, Purushotham R; Roychowdhury, Tanmoy; Li, Yanming; Wang, Minxian; Aragam, Krishna G; Paruchuri, Kaavya; Zuber, Verena; Shakt, Gabrielle E; Tsao, Noah L; Judy, Renae L; Vy, Ha My T; Verma, Shefali S; Rader, Daniel J; Do, Ron; Bavaria, Joseph E; Nadkarni, Girish N; Ritchie, Marylyn D; Burgess, Stephen; Guo, Dong-Chuan; Ellinor, Patrick T; LeMaire, Scott A; Milewicz, Dianna M; Willer, Cristen J; Natarajan, Pradeep; Tsao, Philip S; Pyarajan, Saiju; Damrauer, Scott M

An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family

在一个五代家族中,FBN1基因深内含子变异与假外显子形成和马凡氏综合征表型变异相关。

Guo, Dong-Chuan; Duan, Xueyan; Mimnagh, Kathleen; Cecchi, Alana C; Marin, Isabella C; Yu, Yang; Velasco, Walter V; Lee, Kwanghyuk; Zhu, Xue; Murdock, David R; Leal, Suzanne M; Wheeler, Marsha M; Smith, Josh; Bamshad, Michael J; Milewicz, Dianna M

Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve

罕见的基因组拷贝数变异提示二叶式主动脉瓣膜可能存在新的候选基因

Carlisle, Steven G; Albasha, Hasan; Michelena, Hector; Sabate-Rotes, Anna; Bianco, Lisa; De Backer, Julie; Mosquera, Laura Muiño; Yetman, Anji T; Bissell, Malenka M; Andreassi, Maria Grazia; Foffa, Ilenia; Hui, Dawn S; Caffarelli, Anthony; Kim, Yuli Y; Guo, Dong-Chuan; Citro, Rodolfo; De Marco, Margot; Tretter, Justin T; McBride, Kim L; Milewicz, Dianna M; Body, Simon C; Prakash, Siddharth K

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

编码ADAMTS样蛋白6的THSD4基因的致病性变异会导致遗传性胸主动脉瘤。

Elbitar, Sandy; Renard, Marjolijn; Arnaud, Pauline; Hanna, Nadine; Jacob, Marie-Paule; Guo, Dong-Chuan; Tsutsui, Ko; Gross, Marie-Sylvie; Kessler, Ketty; Tosolini, Laurent; Dattilo, Vincenzo; Dupont, Sebastien; Jonquet, Jeremie; Langeois, Maud; Benarroch, Louise; Aubart, Melodie; Ghaleb, Youmna; Abou Khalil, Yara; Varret, Mathilde; El Khoury, Petra; Ho-Tin-Noé, Benoit; Alembik, Yves; Gaertner, Sébastien; Isidor, Bertrand; Gouya, Laurent; Milleron, Olivier; Sekiguchi, Kiyotoshi; Milewicz, Dianna; De Backer, Julie; Le Goff, Carine; Michel, Jean-Baptiste; Jondeau, Guillaume; Sakai, Lynn Y; Boileau, Catherine; Abifadel, Marianne

Human SMAD4 Genomic Variants Identified in Individuals with Heritable and Early-Onset Thoracic Aortic Disease

在患有遗传性和早发性胸主动脉疾病的个体中发现了人类SMAD4基因组变异

Bhave, Shreyas A; Guo, Dong-Chuan; Angelov, Stoyan; Bamshad, Michael J; Nickerson, Deborah A; Milewicz, Dianna; Wallingford, Mary C

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

MYLK致病变异与主动脉疾病表现、妊娠风险及致病性错义变异的特征

Wallace, Stephanie E; Regalado, Ellen S; Gong, Limin; Janda, Alexandra L; Guo, Dong-Chuan; Russo, Claudio F; Kulmacz, Richard J; Hanna, Nadine; Jondeau, Guillaume; Boileau, Catherine; Arnaud, Pauline; Lee, Kwanghyuk; Leal, Suzanne M; Hannuksela, Matias; Carlberg, Bo; Johnston, Tami; Antolik, Christian; Hostetler, Ellen M; Colombo, Roberto; Milewicz, Dianna M

SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections

SMAD4 罕见变异与胸主动脉瘤和夹层患者及家族相关

Duan, Xue-Yan; Guo, Dong-Chuan; Regalado, Ellen S; Shen, Hong; Coselli, Joseph S; Estrera, Anthony L; Safi, Hazim J; Bamshad, Michael J; Nickerson, Deborah A; LeMaire, Scott A; De Backer, Julie; Milewicz, Dianna M

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections

LTBP3致病变异使个体易患胸主动脉瘤和夹层

Guo, Dong-Chuan; Regalado, Ellen S; Pinard, Amelie; Chen, Jiyuan; Lee, Kwanghyuk; Rigelsky, Christina; Zilberberg, Lior; Hostetler, Ellen M; Aldred, Micheala; Wallace, Stephanie E; Prakash, Siddharth K; Leal, Suzanne M; Bamshad, Michael J; Nickerson, Deborah A; Natowicz, Marvin; Rifkin, Daniel B; Milewicz, Dianna M