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

Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy

对不明原因癫痫婴儿进行非诊断性短读长基因组测序后进行全面重新分析的诊断率

Nguyen, Jimmy N H; Lachgar-Ruiz, Maria; Higginbotham, Edward J; Coleman, Matthew; Coleman, John; Shao, Wanqing; Scotchman, Elizabeth; Pritchard, Ashley J; Bell, Katrina M; Chitty, Lyn S; Christodoulou, John; De Fazio, Paul; Deshwar, Ashish R; Eltze, Christin; Griffiths, Anna J S; Hassell, Jane; Jain, Puneet; Kaliakatsos, Marios; Liang, Nicole S Y; Lombard, Patrick; Marshall, Christian R; Marx, Catherine; McRae, Lyndsey; Mulhern, Sarah; Paternoster, Ben; Perez Caballero, Ana; Pipko, Neta; Sidhu, Jashanpreet; Smith, Lacey; Stark, Zornitza; Trost, Brett; Wakeling, Emma; White, Susan M; Yoong, Michael; Chandler, Natalie J; Cross, J Helen; Scheffer, Ingrid E; Chau, Vann; Poduri, Annapurna; Howell, Katherine B; Stephenson, Sarah E M; McTague, Amy; Costain, Gregory; D'Gama, Alissa M

Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and education

基因组学时代的变异解读培训:以学习成果为基础的专业能力和教育

Nisselle, Amy; Liddicoat, Douglas; Cliffe, Corrina; Gallacher, Lyndon; Martyn, Melissa; Hodgson, Jan; Baker, Naomi L; Beshay, Victoria; Fanjul-Fernandez, Miriam; Fellowes, Andrew P; Lunke, Sebastian; Phelan, Dean G; Roesley, Ain; Stark, Zornitza; Tan, Tiong Yang; Thompson, Bryony; Gaff, Clara L; Thorne, Natalie

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

将威尔逊-荣格纳原则应用于基因组学时代:国际新生儿测序联盟的共识建议

Downie, Lilian; Yeo, Julie; Minten, Thomas; Heald, Rose; Ansel, Derek; Baker, Mei; Balciuniene, Jorune; Berg, Jonathan S; Boemer, François; Chung, Wendy K; Cope, Heidi L; Eckstein, David J; Encina, Nicolas; Faivre, Laurence; Ferlini, Alessandra; García-Villoria, Judit; Gelb, Michael H; González De Aledo-Castillo, José Manuel; Golden-Grant, Katie; Parad, Richard B; Shah, Nidhi; Stark, Zornitza; Sund, Kristen L; Tsipouras, Petros; To, Meekai; Bick, David; Green, Robert C; Gold, Nina B

Genomics workforce views on automating genomic reanalysis: trust, equity and governance

基因组学从业人员对基因组再分析自动化的看法:信任、公平和治理

King, Emily A; Lynch, Fiona; Stark, Zornitza; Vears, Danya F

Genomic Newborn Screening: Verdict From an Australian Citizens' Jury

新生儿基因组筛查:澳大利亚公民陪审团的裁决

Aquino, Yves Saint James; Scarfe, Joanne; Popic, Diana; Carolan, Lucy; Degeling, Chris; Prokopovich, Kathleen; Otlowski, Margaret F A; Singh, Saniya; Fabrianesi, Belinda; Bhattacharya, Kaustuv; Jones, Kristi; Newson, Ainsley J; Shih, Patti; Bennetts, Bruce; Frost, Emma; Stark, Zornitza L; Nowak, Kristen; Healy, Louise; Norris, Sarah; Carter, Stacy M

Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study

支持在数字时代大规模开展新生儿基因组筛查的决策:BabyScreen+ 研究

Downie, Lilian; Caruana, Jade; Kugenthiran, Nathasha; Kanga-Parabia, Anaita; Tutty, Erin; Bombard, Yvonne; Clausen, Marc; Bouffler, Sophie; Gaff, Clara; Archibald, Alison D; Lunke, Sebastian; Stark, Zornitza

A guide to gene-disease relationships in nephrology

肾脏病学中基因-疾病关系指南

Stark, Zornitza; Byrne, Alicia B; Sampson, Matthew G; Lennon, Rachel; Mallett, Andrew J

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异体通过损害突触功能导致神经发育综合征。

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Marshall, Christian R; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M; de Kruiff, Chris C; Rajabi, Farrah; Rodan, Lance H; Coury, Stephanie A; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P; Kraemer, Dennis; Prada, Carlos E; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G Christoph; Bamshad, Michael J; Campeau, Philippe M; Lehman, Anna; Hendon, Laura G; Wentzensen, Ingrid M; Monaghan, Kristin G; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K; Seeley, Andrea H; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J; Washington, Camerun; Stevens, Servi J C; Heijligers, Malou; Alkuraya, Fowzan S; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P; Kühn, Andrea A; Thoms, Sven; Morrie, Ryan D; Mekhoubad, Shila; Green, Eric M; Barmada, Sami J; Gitler, Aaron D; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S; Rauch, Anita; Lipstein, Noa

Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study

利用外显子组和基因组测序诊断新生儿肌张力低下的遗传基础:一项国际联盟研究

Morton, Sarah U; Costain, Gregory; French, Courtney E; Wakeling, Emma; Szuto, Anna; Christodoulou, John; Cohn, Ronald; Darras, Basil T; Wojcik, Monica H; D'Gama, Alissa M; Dowling, James J; Lunke, Sebastian; Muntoni, Francesco; Raymond, Lucy; Rowitch, David; Beggs, Alan H; Stark, Zornitza; Agrawal, Pankaj B

Role of CAMK2D in neurodevelopment and associated conditions

CAMK2D在神经发育及相关疾病中的作用

Rigter, Pomme M F; de Konink, Charlotte; Dunn, Matthew J; Proietti Onori, Martina; Humberson, Jennifer B; Thomas, Matthew; Barnes, Caitlin; Prada, Carlos E; Weaver, K Nicole; Ryan, Thomas D; Caluseriu, Oana; Conway, Jennifer; Calamaro, Emily; Fong, Chin-To; Wuyts, Wim; Meuwissen, Marije; Hordijk, Eva; Jonkers, Carsten N; Anderson, Lucas; Yuseinova, Berfin; Polonia, Sarah; Beysen, Diane; Stark, Zornitza; Savva, Elena; Poulton, Cathryn; McKenzie, Fiona; Bhoj, Elizabeth; Bupp, Caleb P; Bézieau, Stéphane; Mercier, Sandra; Blevins, Amy; Wentzensen, Ingrid M; Xia, Fan; Rosenfeld, Jill A; Hsieh, Tzung-Chien; Krawitz, Peter M; Elbracht, Miriam; Veenma, Danielle C M; Schulman, Howard; Stratton, Margaret M; Küry, Sébastien; van Woerden, Geeske M