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

Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia

DENND2B基因变异与神经发育障碍、精神病和紧张症的易感性相关。

Murthy, Harsha; Hoang, Ny; Stark, Jamie C; Cui, Sunny; Pannia, Emanuela; Tsoi, Chung Ting; Harris, Simon; Ceolin, C'airah; Verhaeghe, Lauren; Scholten, Sydney; Baribeau, Danielle; Summers, Jane; Costain, Gregory; Selvanayagam, Thanuja; Howe, Jennifer L; Lewis, M E Suzanne; Brunet, Theresa; Rieger, Susanne; Rosenfeld, Jill A; Craigen, William J; Burrage, Lindsay C; Christie, Michelle R; Baldwin, Deborah; Wentzensen, Ingrid M; Keren, Boris; Cogne, Benjamin; Isidor, Bertrand; Afenjar, Alexandra; Elshafie, Reem M; Bastaki, Laila; Alkanderi, Sumaya; Myers, Kenneth A; Demarest, Scott; Angione, Katie; Abbott, Megan; Campeau, Philippe M; Dowling, James J; Mendoza-Londono, Roberto; Scherer, Stephen W; Deshwar, Ashish R; Vorstman, Jacob

Development and Treatment of Severe Lordoscoliosis in a Patient With Noonan Syndrome With Multiple Lentigines (NSML): A Case Report

伴有多发性雀斑的努南综合征(NSML)患者发生严重脊柱侧弯的病例报告

Lee, Rui Shian; Craigen, Fiona; Tsirikos, Athanasios I

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

显性负性ATP5F1A变异体破坏氧化磷酸化,导致神经系统疾病。

Sara M Fielder ,Marisa W Friederich ,Daniella H Hock ,Jessie R Zhang ,Liana M Valin ,Jill A Rosenfeld ,Kevin T A Booth ,Natasha J Brown ,Rocio Rius ,Tanavi Sharma ,Liana N Semcesen ,Kim C Worley ,Lindsay C Burrage ,Kayla Treat ,Tara Samson ,Sarah Govert ,Sara DaCunha ,Weimin Yuan ,Jian Chen ,Jacob Lesinski ,Hieu Hoang ,Stephanie A Morrison ,Farah A Ladha ,Roxanne A Van Hove ,Cole R Michel ,Richard Reisdorph ,Eric Tycksen ,Dustin Baldridge ,Gary A Silverman ,Claudia Soler-Alfonso ,Erin Conboy ,Francesco Vetrini ,Lisa Emrick ,William J Craigen ,David A Stroud ,Johan L K Van Hove ,Tim Schedl ,Stephen C Pak

The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics

超深度RNA测序在孟德尔遗传病诊断中的应用

Zhao, Sen; Sinson, Jefferson C; Li, Shenglan; Rosenfeld, Jill A; Zapata, Gladys; Macakova, Kristina; Pena, Mezthly; Maywald, Becky; Worley, Kim C; Burrage, Lindsay C; Weisz-Hubshman, Monika; Ketkar, Shamika; Craigen, William; Emrick, Lisa; Clark, Tyson; Lithwick, Gila Yanai; Shipony, Zohar; Eng, Christine; Lee, Brendan; Liu, Pengfei

Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis

双基因组二代测序检测线粒体疾病的经验:一项全面的分子诊断

Gorman, Elizabeth; Dai, Hongzheng; Feng, Yanming; Craigen, William James; Chen, David C Y; Xia, Fan; Meng, Linyan; Liu, Pengfei; Rigobello, Robert; Neogi, Arpita; Eng, Christine M; Wang, Yue

Development and validation of an LC-MS/MS method for the quantification of novel therapeutic TT-478, a selective adenosine receptor 2B antagonist, for a phase I/II clinical trial

开发并验证一种用于定量分析新型治疗药物 TT-478(一种选择性腺苷受体 2B 拮抗剂)的 LC-MS/MS 方法,用于 I/II 期临床试验

Whitaker, Daniel; Francis, Laura; Karaborni, Sami; Smith, Steven; Craigen, Jenny L; Svetlik, Svatopluk; Barnett, Shelby; Veal, Gareth J

The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics

超深度RNA测序在孟德尔遗传病诊断中的应用

Zhao, Sen; Sinson, Jefferson C; Li, Shenglan; Rosenfeld, Jill A; Zapata, Gladys; Macakova, Kristina; Pena, Mezthly; Maywald, Becky; Worley, Kim C; Burrage, Lindsay; Hubshman, Monika Weisz; Ketkar, Shamika; Craigen, William; Emrick, Lisa; Clark, Tyson; Lithwick, Gila Yanai; Shipony, Zohar; Eng, Christine; Lee, Brendan; Liu, Pengfei

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

显性负性 ATP5F1A 变体破坏氧化磷酸化,导致神经系统疾病

Fielder Sara M, Friederich Marisa W, Hock Daniella H, Zhang Jessie R, Valin Liana M, Rosenfeld Jill A, Booth Kevin T A, Brown Natasha J, Rius Rocio, Sharma Tanavi, Semcesen Liana N, Worley Kim C, Burrage Lindsay C, Treat Kayla, Samson Tara, Govert Sarah, DaCunha Sara, Yuan Weimin, Chen Jian, Lesinski Jacob, Hoang Hieu, Morrison Stephanie A, Ladha Farah A, Van Hove Roxanne A, Michel Cole R, Reisdorph Richard, Tycksen Eric, Baldridge Dustin, Silverman Gary A, Soler-Alfonso Claudia, Conboy Erin, Vetrini Francesco, Emrick Lisa, Craigen William J, Sykes Stephen M, Stroud David A, Van Hove Johan L K, Schedl Tim, Pak Stephen C

Collagenase Injection versus Limited Fasciectomy for Dupuytren's Contracture

胶原酶注射与有限筋膜切除术治疗杜普伊特伦挛缩症

Dias, Joseph; Tharmanathan, Puvanendran; Arundel, Catherine; Welch, Charlie; Wu, Qi; Leighton, Paul; Armaou, Maria; Johnson, Nick; James, Sophie; Cooke, John; Bainbridge, Lionel; Craigen, Michael; Warwick, David; Brady, Samantha; Flett, Lydia G; Jones, Judy; Knowlson, Catherine N; Watson, Michelle; Keding, Ada; Hewitt, Catherine E; Torgerson, David

The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing

人源细胞转分化结合RNA测序的临床应用及诊断实施

Shenglan Li,Sen Zhao,Jefferson C Sinson,Aleksandar Bajic,Jill A Rosenfeld,Matthew B Neeley,Mezthly Pena,Kim C Worley,Lindsay C Burrage,Monika Weisz-Hubshman,Shamika Ketkar,William J Craigen,Gary D Clark,Seema Lalani,Carlos A Bacino,Keren Machol,Hsiao-Tuan Chao,Lorraine Potocki,Lisa Emrick,Jennifer Sheppard,My T T Nguyen,Anahita Khoramnia,Paula Patricia Hernandez,Sandesh Cs Nagamani,Zhandong Liu