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

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

Implementation of a Traceback Testing Program for Ovarian Cancer: Findings from the FACTS Study

卵巢癌溯源检测项目的实施:FACTS 研究的发现

Henrikson, Nora B; Jonas, M Cabell; Blasi, Paula R; Buchanan, Adam H; Suwannarat, Pim; Leppig, Kathleen; Scrol, Aaron; Leitzel, Tracey; Deneal, Adrienne N; Canedo, Daniela; Ramaprasan, Arvind; Basra, Sundeep S; Brown, Jennifer; Odums, Marilyn; Hu, Yirui; Romagnoli, Katrina M; Khieu, Estella; Balton, Elsa; Patel, Saumya; Kunnmann, Muki; Hassen, Dina; Hao, Jing; Lewis, Meredith; Schwiter, Rachel; Goehringer, Jessica; Ramey, Heather M; Gustafson, Shanshan; Hsieh, Katrina; Ladd, Ilene; Rahm, Alanna K

Comparison of Multiple State-of-the-Art Large Language Models for Patient Education Prior to CT and MRI Examinations

比较多种最先进的大型语言模型在CT和MRI检查前患者教育中的应用

Eminovic, Semil; Levita, Bogdan; Dell'Orco, Andrea; Leppig, Jonas Alexander; Nawabi, Jawed; Penzkofer, Tobias

Health System-Led Early Consent and Direct Contact of At-Risk Relatives: Pilot Study Results

医疗系统主导的早期知情同意和直接联系高危亲属:试点研究结果

Henrikson, Nora B; Scrol, Aaron; Zepp, Jamilyn M; Anderson, Melissa L; Blasi, Paula R; Ewing, John J; Grafton, Jane; Ralston, James D; Fullerton, Stephanie M; Leppig, Kathleen A

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

剪接体功能障碍会导致具有重叠特征的神经发育障碍。

Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R; Zhou, Yijing; Bosch, Daniëlle Gm; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K; Pérez-Jurado, Luis A; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Kremlikova Pourova, Radka; Sedlacek, Zdenek; Keena, Beth A; March, Michael E; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J; Harr, Margaret H; Lemire, Gabrielle; Boycott, Kym M; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M; Motazacker, Mahdi M; Martinez-Agosto, Julian A; Rabani, Ahna M; McCormick, Elizabeth M; Falk, Marni J; Ruggiero, Sarah M; Helbig, Ingo; Møller, Rikke S; Tessarollo, Lino; Tomassoni Ardori, Francesco; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M; Ganapathi, Mythily; Gelb, Bruce D; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sébastien; Jizi, Khadijé; Bruel, Ange-Line; Quelin, Chloé; Misra, Vinod K; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gökhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna Ce; Thompson, Michelle L; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C; Shashi, Vandana; Higginbotham, Edward J; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoît; Tran Mau-Them, Frederic; Fernandez Garcia Moya, Luis; García-Miñaúr, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlène; Hadj Habdallah, Hamza; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Véronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert Ba; van Slegtenhorst, Marjon A; Brooks, Alice S; Cogne, Benjamin; Rambaud, Thomas; Tümer, Zeynep; Zackai, Elaine H; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon

Genetic predictors of blood pressure traits are associated with preeclampsia

血压特征的遗传预测因子与先兆子痫有关

Jasper, Elizabeth A; Hellwege, Jacklyn N; Breeyear, Joseph H; Xiao, Brenda; Jarvik, Gail P; Stanaway, Ian B; Leppig, Kathleen A; Chittoor, Geetha; Hayes, M Geoffrey; Dikilitas, Ozan; Kullo, Iftikhar J; Holm, Ingrid A; Verma, Shefali Setia; Edwards, Todd L; Velez Edwards, Digna R

Multimodal management of ectopic hepatic pregnancy: a systematic review of the literature

异位肝妊娠的多模式治疗:文献系统综述

Beck, Maximilian Heinz; Sehouli, Jalid; Leppig, Jonas Alexander; Knitter, Sebastian; Pratschke, Johann; Krenzien, Felix

"I Didn't Have to Worry about It": Patient and Family Experiences with Health System Involvement in Notifying Relatives of Genetic Test Results

“我无需为此担心”:患者及其家属在医疗系统参与通知亲属基因检测结果方面的经历

Blasi, Paula Rae; Zepp, Jamilyn M; Scrol, Aaron; Ewing, John; Anderson, Melissa L; Ralston, James D; Fullerton, Stephanie M; Leppig, Kathleen; Henrikson, Nora B

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

UQCRFS1相关线粒体复合物III缺乏症和隐性GJA8相关白内障的双重诊断

Blue, Elizabeth E; Huang, Samuel J; Khan, Alyna; Golden-Grant, Katie; Boyd, Brenna; Rosenthal, Elisabeth A; Gillentine, Madelyn A; Fleming, Leah R; Adams, David R; Wolfe, Lynne; Allworth, Aimee; Bamshad, Michael J; Caruana, Nikeisha J; Chanprasert, Sirisak; Chen, Jingheng; Dargie, Nitsuh; Doherty, Daniel; Friederich, Marisa W; Hisama, Fuki M; Horike-Pyne, Martha; Lee, Jessica C; Donovan, Tonia E; Hock, Daniella H; Leppig, Kathleen A; Miller, Danny E; Mirzaa, Ghayda; Ranchalis, Jane; Raskind, Wendy H; Michel, Cole R; Reisdorph, Richard; Schwarze, Ulrike; Sheppeard, Sam; Strohbehn, Samuel; Stroud, David A; Sybert, Virginia P; Wener, Mark H; Stergachis, Andrew B; Lam, Christina T; Jarvik, Gail P; Dipple, Katrina M; Van Hove, Johan L K; Glass, Ian A