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

A comprehensive framework for the interpretation of TTN missense variants

用于解释 TTN 错义变异的综合框架

Di Feo, Maria Francesca; Rees, Martin; Lillback, Victoria; Kho, Ay Lin; Meybatova, Angelina; Holt, Mark; Jungbluth, Heinz; Muntoni, Francesco; Baranello, Giovanni; Sarkozy, Anna; Fiorillo, Chiara; Baratto, Serena; Bruno, Claudio; Traverso, Monica; Iacomino, Michele; Pedemonte, Marina; Brolatti, Noemi; Faravelli, Francesca; Zara, Federico; Mandarà, G M Luana; Beggs, Alan H; Genetti, Casie A; Barraza-Flores, Pamela; Rodolico, Carmelo; Messina, Sonia; Schnabel, Franziska; Balogh, Istvan; Szakszon, Katalin; Sarv, Siiri; Õunap, Katrin; Ricci, Federica Silvia; Mussa, Alessandro; Malfatti, Edoardo; Bertini, Enrico Silvio; D'Amico, Adele; Diodato, Daria; Catteruccia, Michela; Ravenscroft, Gianina; Johari, Mridul; Kurbatov, Sergei A; Chausova, Polina; Murtazina, Aysylu; Kuchina, Anna; Shchagina, Olga; Drakos, Minas; Spilioti, Martha; Evangeliou, Athanasios E; Zaganas, Ioannis; Zhong, Huahua; Luo, Sushan; Merlini, Luciano; Nguyen, Cam-Tu-Emilie; Tasca, Giorgio; Reeves, Tara; Mörner, Stellan; Danielsson, Olof; Udd, Bjarne; Gautel, Mathias; Savarese, Marco

The Role of Academic Medical Centers in Personalized Experimental Therapeutic Development: Key Considerations

学术医疗中心在个性化实验治疗研发中的作用:关键考量

Dies, Kira A; Yu, Timothy W; Chamberlin, Nancy L; Holm, Ingrid A; Beggs, Alan H; Kennedy, Kerri O; Fleming, Judith C; Pomeroy, Scott L; Urion, David K; Srivastava, Siddharth

Toward Same-Day Genome Sequencing in the Critical Care Setting

迈向重症监护环境下的当日基因组测序

Wojcik, Monica H; Larkin, Katie; Cipicchio, Michelle; Doupnik, Austin; Zhao, Chen; Cech, Cynthia; Lopez, Douglas; Chandrasekar, Jagadeeswaran; Leadbetter, Joanne; Mannion, John; Berg, Kendall; Golkaram, Mahdi; Osentowski, McKenna; Freer, Megan; Lehmann, Taylor; Lee, Won-Mean; Ormbrek, Emily; Prindle, Marc J; Nabavi, Melud; Chaturvedi, Amal; Seberino, Chuck; Baker, Daniel N; Williams, Cara; Toledo, Diana; Malolepsza, Edyta; Fleharty, Mark; Oza, Andrea; Low, Sophie; Beggs, Alan H; Genetti, Casie A; Strickland, Gwendolyn; Anderson, Katherine N; Chung, Wendy K; Rehm, Heidi L; Hofherr, Sean; Kokoris, Mark; Lennon, Niall

The expanding clinical and genetic spectrum of DYNC1H1-related disorders

DYNC1H1相关疾病的临床和遗传谱不断扩大

Möller, Birk; Becker, Lena-Luise; Saffari, Afshin; Afenjar, Alexandra; Coci, Emanuele G; Williamson, Rachel; Ward-Melver, Catherine; Gibaud, Marc; Sedláčková, Lucie; Laššuthová, Petra; Libá, Zuzana; Vlčková, Markéta; William, Nancy; Klee, Eric W; Gavrilova, Ralitza H; Lévy, Jonathan; Capri, Yline; Scavina, Mena; Körner, Robert Walter; Valivullah, Zaheer; Weiß, Claudia; Möller, Greta Marit; Frazier, Zoë; Roberts, Amy; Gener, Blanca; Scala, Marcello; Striano, Pasquale; Zara, Federico; Thiel, Moritz; Sinnema, Margje; Kamsteeg, Erik-Jan; Donkervoort, Sandra; Duboc, Veronique; Zaafrane-Khachnaoui, Khaoula; Elkhateeb, Nour; Selim, Laila; Margot, Henri; Marin, Victor; Beneteau, Claire; Isidor, Bertrand; Cogne, Benjamin; Keren, Boris; Küsters, Benno; Beggs, Alan H; Sveden, Abigail; Chopra, Maya; Genetti, Casie A; Nicolai, Joost; Dötsch, Jörg; Koy, Anne; Bönnemann, Carsten G; von der Hagen, Maja; von Kleist-Retzow, Jürgen-Christoph; Voermans, Nicol C; Jungbluth, Heinz; Dafsari, Hormos Salimi

Development of self-phenotyping tools to empower patients and improve diagnostics

开发自我表型分析工具,以增强患者自主性并改进诊断

Shefchek, Kent; Ziniel, Sonja I; McMurry, Julie A; Brownstein, Catherine A; Brownstein, John S; Riggs, Erin Rooney; Might, Matthew; Smedley, Damian; Clugston, Amy; Beggs, Alan H; Paterson, Heather; Robinson, Peter N; Vasilevsky, Nicole A; Holm, Ingrid A; Haendel, Melissa A

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

Family genetic risk communication and reverse cascade testing in the BabySeq project

BabySeq 项目中的家庭遗传风险沟通和逆向级联检测

Uveges, Melissa K; Smith, Hadley Stevens; Pereira, Stacey; Genetti, Casie; McGuire, Amy L; Beggs, Alan H; Green, Robert C; Holm, Ingrid A

International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease

国际精准儿童健康伙伴关系(IPCHiP):一项旨在加速罕见儿科疾病发现并改善治疗效果的倡议

Howell, Katherine B; White, Susan M; McTague, Amy; D'Gama, Alissa M; Costain, Gregory; Poduri, Annapurna; Scheffer, Ingrid E; Chau, Vann; Smith, Lindsay D; Stephenson, Sarah E M; Wojcik, Monica; Davidson, Andrew; Sebire, Neil; Sliz, Piotr; Beggs, Alan H; Chitty, Lyn S; Cohn, Ronald D; Marshall, Christian R; Andrews, Nancy C; North, Kathryn N; Cross, J Helen; Christodoulou, John; Scherer, Stephen W

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

星状蛋白的结构变异及其对表型和遗传的影响:由大片段缺失引起的显性远端表型的建立

Sagath, Lydia; Kiiski, Kirsi; Naidu, Kireshnee; Patel, Krutik; Jonson, Per Harald; Laarne, Milla; Djordjevic, Djurdja; Yoon, Grace; LaGroon, Anna; Rogers, Curtis; Galindo, Maureen Kelly; Scherer, Katalin; Kunstmann, Erdmute; Koparir, Erkan; Ho, Desirée; Davis, Mark; Joshi, Purwa; Zygmunt, Alexander; Orbach, Rotem; Donkervoort, Sandra; Bönnemann, Carsten G; Savarese, Marco; Echaniz-Laguna, Andoni; Biancalana, Valérie; Genetti, Casie A; Iannaccone, Susan T; Beggs, Alan H; Wallgren-Pettersson, Carina; Henning, Franclo; Pelin, Katarina; Lehtokari, Vilma-Lotta

Zebrafish and cellular models of SELENON-Congenital myopathy exhibit novel embryonic and metabolic phenotypes

斑马鱼和SELENON先天性肌病细胞模型表现出新的胚胎和代谢表型

Barraza-Flores, Pamela; Moghadaszadeh, Behzad; Lee, Won; Isaac, Biju; Sun, Liang; Hickey, Emily T; Rockowitz, Shira; Sliz, Piotr; Beggs, Alan H