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

Young people's experience of predictive genetic testing for inherited cardiac conditions: a qualitative study

年轻人对遗传性心脏病预测基因检测的体验:一项定性研究

Mulhern, Sarah; Morrish, Ansley M; Connell, Vanessa; Hickerton, Chriselle; Macciocca, Ivan

Titin-related familial dilated cardiomyopathy: factors associated with disease onset

肌联蛋白相关家族性扩张型心肌病:与疾病发病相关的因素

Johnson, Renee; Fletcher, Robert A; Peters, Stacey; Ohanian, Monique; Soka, Magdalena; Smolnikov, Andrei; Abihider, Katherine E; Ackerman, Michael J; Ader, Flavie; Akhtar, Mohammed M; Amin, Ahmad S; Ashley, Euan A; Atherton, John J; Austin, Rachel; Baas, Annette F; Bagnall, Richard D; Ross, Samantha Barratt; Blouin, Jean-Louis; Brown, Emily E; Bundgaard, Henning; Cannie, Douglas; Chmielewski, Przemyslaw; Correnti, Gemma; Crespo-Leiro, Maria Generosa; Dal Ferro, Matteo; Dellefave-Castillo, Lisa M; Dominguez, Fernando; Dooijes, Dennis; Dybro, Anne M; Ed Demri, Youssef; El Hachmi, Mohamed; Escobar-Lopez, Luis; Foye, Sarah Jajesnica; Franaszczyk, Maria; Gigli, Marta; Lopez, Esther Gonzalez; Goudal, Adeline; Graw, Sharon; Guipponi, Michel; Haan, Eric; Haas, Jan; Hammersley, Daniel J; Hansen, Frederikke G; Hayward, Christopher S; Hey, Thomas Morris; Heymans, Stephane; Ho, Carolyn Y; Houweling, Arjan C; Ingles, Jodie; Ingrey, Angela; Jabbour, Andrew; James, Paul A; Jansweijer, Joeri A; Jongbloed, Jan D H; Keogh, Anne M; Larrañaga-Moreira, Jose M; Lekanne Deprez, Ronald H; Macciocca, Ivan; Macdonald, Peter S; Mansencal, Nicolas; Mansour, Julia; Martinez-Veira, Cristina; McDonough, Barbara; McGaughran, Julie; Medo, Kristen; Merlo, Marco; Michalak, Ewa; Monserrat, Lorenzo; Mountain, Helen; Muller, Steven A; Murphy, Anne M; Murray, Brittney; Oates, Emily C; Ormondroyd, Elizabeth; Pachter, Nicholas; Paldino, Alessia; Palmyre, Aurélien; Pereira, Naveen L; Picard, Kermshlise C; Poplawski, Nicola; Prasad, Sanjay; Proukhnitzky, Julie; Pruny, Jean-Francois; Reant, Patricia; Richard, Pascale; Ronan, Anne; Sedaghat-Hamedani, Farbod; Semsarian, Christopher; Storm, Garrett; Stroeks, Sophie; Syrris, Petros; Taylor, Matthew R G; Thomson, Kate; Thompson, Tina; van Tintelen, J Peter; Vissing, Christoffer Rasmus; Waddell-Smith, Kathryn E; Wallis, Mathew; Zentner, Dominica; Arnott, Clare; Marian, Ali J; Oh, Jaewon; Fokstuen, Siv; James, Cynthia A; Barriales-Villa, Roberto; Meder, Benjamin; Wahbi, Karim; Giudicessi, John R; Parikh, Victoria N; Ware, James S; Piriou, Nicolas; Rooryck, Caroline; Lakdawala, Neal K; Mestroni, Luisa; Sinagra, Gianfranco; Elliott, Perry M; Watkins, Hugh; McNally, Elizabeth M; Charron, Philippe; van Spaendonck-Zwarts, Karin Y; Garcia-Pavia, Pablo; Peña-Peña, Maria Luisa; Mogensen, Jens; Christensen, Alex Hoerby; Bilińska, Zofia T; Rasmussen, Torsten B; Seidman, Jonathan G; Seidman, Christine E; Te Riele, Anneline S J M; Verdonschot, Job A J; Pinto, Yigal M; Christiaans, Imke; Fatkin, Diane

A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship

用于基因组测序的多层分析平台:澳大利亚基因组学心血管疾病旗舰项目的设计和初步研究结果

Austin, Rachel; Brown, Jaye S; Casauria, Sarah; Madelli, Evanthia O; Mattiske, Tessa; Boughtwood, Tiffany; Metke, Alejandro; Davis, Andrew; Horton, Ari E; Winlaw, David; Das, Debjani; Soka, Magdalena; Giannoulatou, Eleni; Rath, Emma M; Haan, Eric; Blue, Gillian M; Vohra, Jitendra; Atherton, John J; van Spaendonck-Zwarts, Karin; Cox, Kathy; Burnett, Leslie; Wallis, Mathew; Haas, Matilda; Quinn, Michael C J; Pachter, Nicholas; Poplawski, Nicola K; Stark, Zornitza; Bagnall, Richard D; Weintraub, Robert G; Pantaleo, Sarah-Jane; Lunke, Sebastian; De Fazio, Paul; Thompson, Tina; James, Paul; Chang, Yuchen; Fatkin, Diane; Macciocca, Ivan; Ingles, Jodie; Dunwoodie, Sally L; Semsarian, Chris; McGaughran, Julie

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death

遗传性心脏病和不明原因猝死中剪接破坏性变异的负担

Singer, Emma S; Crowe, Joshua; Holliday, Mira; Isbister, Julia C; Lal, Sean; Nowak, Natalie; Yeates, Laura; Burns, Charlotte; Rajagopalan, Sulekha; Macciocca, Ivan; King, Ingrid; Wacker, Julie; Ingles, Jodie; Weintraub, Robert G; Semsarian, Christopher; Bagnall, Richard D

Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol

在急性护理环境中,对家庭进行超快速三联体基因组检测后,分两步提供并返回多种类型的额外基因组检测结果:一项研究方案

Bouffler, Sophie E; Lee, Ling; Lynch, Fiona; Martyn, Melissa; Lynch, Elly; Macciocca, Ivan; Curnow, Lisette; McCorkell, Giulia; Lunke, Sebastian; Chong, Belinda; Marum, Justine E; Delatycki, Martin; Downie, Lilian; Goranitis, Ilias; Vears, Danya F; Best, Stephanie; Clausen, Marc; Bombard, Yvonne; Stark, Zornitza; Gaff, Clara L

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

通过协作方式解决基因不一致问题,扩大国家和国际层面虚拟基因面板管理水平的提升。

Stark, Zornitza; Foulger, Rebecca E; Williams, Eleanor; Thompson, Bryony A; Patel, Chirag; Lunke, Sebastian; Snow, Catherine; Leong, Ivone U S; Puzriakova, Arina; Daugherty, Louise C; Leigh, Sarah; Boustred, Christopher; Niblock, Olivia; Rueda-Martin, Antonio; Gerasimenko, Oleg; Savage, Kevin; Bellamy, William; Lin, Victor San Kho; Valls, Roman; Gordon, Lavinia; Brittain, Helen K; Thomas, Ellen R A; Taylor Tavares, Ana Lisa; McEntagart, Meriel; White, Susan M; Tan, Tiong Y; Yeung, Alison; Downie, Lilian; Macciocca, Ivan; Savva, Elena; Lee, Crystle; Roesley, Ain; De Fazio, Paul; Deller, Jane; Deans, Zandra C; Hill, Sue L; Caulfield, Mark J; North, Kathryn N; Scott, Richard H; Rendon, Augusto; Hofmann, Oliver; McDonagh, Ellen M

Description of the Follicular Fluid Cytokine and Hormone Profiles in Human Physiological Natural Cycles

人类生理自然周期中卵泡液细胞因子和激素谱的描述

Piccinni, Marie-Pierre; Vicenti, Rossella; Logiodice, Federica; Fabbri, Raffaella; Kullolli, Ornela; Pallecchi, Marco; Paradisi, Roberto; Danza, Giovanna; Macciocca, Maria; Lombardelli, Letizia; Seracchioli, Renato

Effects of low-dose X-ray medical diagnostics on female gonads: Insights from large animal oocytes and human ovaries as complementary models

低剂量 X 射线医学诊断对女性性腺的影响:从大型动物卵母细胞和人类卵巢作为互补模型获得的见解

Nicola Antonio Martino, Rossella Vicenti, Maria Macciocca, Renato Seracchioli, Giuseppina Marzano, Antonella Mastrorocco, Giovanni Michele Lacalandra, Michele Tomaiuolo, Giuliana Marchesani, Eugenio Antonio Chiaravalle, Francesca Gioia Klinger, Serena Marcozzi, Raffaella Fabbri, Maria Elena Dell'Aqu

Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy

前瞻性评估全外显子组测序在扩张型心肌病中的应用价值

Ramchand, Jay; Wallis, Mathew; Macciocca, Ivan; Lynch, Elly; Farouque, Omar; Martyn, Melissa; Phelan, Dean; Chong, Belinda; Lockwood, Siobhan; Weintraub, Robert; Thompson, Tina; Trainer, Alison; Zentner, Dominica; Vohra, Jitendra; Chetrit, Michael; Hare, David L; James, Paul

The Global State of the Genetic Counseling Profession

全球遗传咨询行业现状

Abacan, MaryAnn; Alsubaie, Lamia; Barlow-Stewart, Kristine; Caanen, Beppy; Cordier, Christophe; Courtney, Eliza; Davoine, Emeline; Edwards, Janice; Elackatt, Niby J; Gardiner, Kate; Guan, Yue; Huang, Lian-Hua; Malmgren, Charlotta Ingvoldstad; Kejriwal, Sahil; Kim, Hyon J; Lambert, Deborah; Lantigua-Cruz, Paulina Araceli; Lee, Juliana M H; Lodahl, Marianne; Lunde, Åshild; Macaulay, Shelley; Macciocca, Ivan; Margarit, Sonia; Middleton, Anna; Moldovan, Ramona; Ngeow, Joanne; Obregon-Tito, Alexandra J; Ormond, Kelly E; Paneque, Milena; Powell, Karen; Sanghavi, Kunal; Scotcher, Diana; Scott, Jenna; Juhé, Clara Serra; Shkedi-Rafid, Shiri; Wessels, Tina-Marié; Yoon, Sook-Yee; Wicklund, Catherine