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

A comprehensive multidisciplinary thoracic aortic program improves patient quality metrics after type A aortic dissection repair

一项综合性的多学科胸主动脉治疗方案可改善A型主动脉夹层修复术后的患者质量指标。

Burke, Christopher R; Sweet, Matthew P; DeGraaff, Bret; Dhanekula, Arjune; Tugan, Dariga; Flodin, Rachel; Otto, Catherine M; Buber, Jonathan; Byers, Peter H; Schwarze, Ulrike; Upson, Melissa; Zettervall, Sara L; DeRoo, Scott

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.

同步长读长基因组、甲基化组、表观基因组和转录组分析揭示了孟德尔遗传病的成因

Vollger Mitchell R, Korlach Jonas, Eldred Kiara C, Swanson Elliott, Underwood Jason G, Bohaczuk Stephanie C, Mao Yizi, Cheng Yong-Han H, Ranchalis Jane, Blue Elizabeth E, Schwarze Ulrike, Munson Katherine M, Saunders Christopher T, Wenger Aaron M, Allworth Aimee, Chanprasert Sirisak, Duerden Brittney L, Glass Ian, Horike-Pyne Martha, Kim Michelle, Leppig Kathleen A, McLaughlin Ian J, Ogawa Jessica, Rosenthal Elisabeth A, Sheppeard Sam, Sherman Stephanie M, Strohbehn Samuel, Yuen Amy L, Stacey Andrew W, Reh Thomas A, Byers Peter H, Bamshad Michael J, Hisama Fuki M, Jarvik Gail P, Sancak Yasemin, Dipple Katrina M, Stergachis Andrew B

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

Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

SLC1A4基因的显性负性变异会导致常染色体显性遗传性癫痫综合征。

Pujol-Giménez, Jonai; Mirzaa, Ghayda; Blue, Elizabeth E; Albano, Giuseppe; Miller, Danny E; Allworth, Aimee; Bennett, James T; Byers, Peter H; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B; Gillentine, Madelyn A; Glass, Ian; Hing, Anne; Horike-Pyne, Martha; Leppig, Kathleen A; Parhin, Azma; Ranchalis, Jane; Raskind, Wendy H; Rosenthal, Elisabeth A; Schwarze, Ulrike; Sheppeard, Sam; Strohbehn, Samuel; Sybert, Virginia P; Timms, Andrew; Wener, Mark; Bamshad, Michael J; Hisama, Fuki M; Jarvik, Gail P; Dipple, Katrina M; Hediger, Matthias A; Stergachis, Andrew B

Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A

利用全长同工型测序解析夏科-马里-图斯病2A型的分子基础

Stergachis, Andrew B; Blue, Elizabeth E; Gillentine, Madelyn A; Wang, Lee-Kai; Schwarze, Ulrike; Cortés, Adriana Sedeño; Ranchalis, Jane; Allworth, Aimee; Bland, Austin E; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B; Glass, Ian; Horike-Pyne, Martha; Huang, Alden Y; Khan, Alyna T; Leppig, Kathleen A; Miller, Danny E; Mirzaa, Ghayda; Parhin, Azma; Raskind, Wendy H; Rosenthal, Elisabeth A; Sheppeard, Sam; Strohbehn, Samuel; Sybert, Virginia P; Tran, Thao T; Wener, Mark H; Byers, Peter H H; Nelson, Stanley F; Bamshad, Michael J; Dipple, Katrina M; Jarvik, Gail P; Hoppins, Suzanne; Hisama, Fuki M

2020 McKusick Award address

2020年麦库西克奖获奖感言

Byers, Peter H

Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta

在四个新的隐性遗传成骨不全家族中发现了MESD基因的双等位基因变异,该基因编码一种WNT信号通路相关蛋白。

Tran, Thao T; Keller, Rachel B; Guillemyn, Brecht; Pepin, Melanie; Corteville, Jane E; Khatib, Samir; Fallah, Mohammad-Sadegh; Zeinali, Sirous; Malfait, Fransiska; Symoens, Sofie; Coucke, Paul; Witters, Peter; Levtchenko, Elena; Bagherian, Hamideh; Nickerson, Deborah A; Bamshad, Michael J; Chong, Jessica X; Byers, Peter H

Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders

患有高活动性埃勒斯-当洛斯综合征和高活动性谱系障碍的患者的自主神经症状存在细微差异

Martinez, Kiana L; Mauss, Corina; Andrews, Jennifer; Saboda, Kathylynn; Huynh, Julie M; Sanoja, Alejandro J; Jesudas, Rohith; Byers, Peter H; Laukaitis, Christina M

A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis

血管型埃勒斯-当洛斯综合征诊断的多机构经验

Shalhub, Sherene; Byers, Peter H; Hicks, Kelli L; Coleman, Dawn M; Davis, Frank M; De Caridi, Giovanni; Weaver, K Nicole; Miller, Erin M; Schermerhorn, Marc L; Shean, Katie; Oderich, Gustavo; Ribeiro, Mauricio; Nishikawa, Cole; Charlton-Ouw, Kristofer; Behrendt, Christian-Alexander; Debus, E Sebastian; von Kodolitsch, Yskert; Zarkowsky, Devin; Powell, Richard J; Pepin, Melanie; Milewicz, Dianna M; Regalado, Ellen S; Lawrence, Peter F; Woo, Karen

6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype

6q25.1 (TAB2) 微缺失是左心发育不全的危险因素:一例扩展表型的病例报告

Cheng, Andrew; Neufeld-Kaiser, Whitney; Byers, Peter H; Liu, Yajuan J