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

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

Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework

利用 ClinGen 临床有效性框架评估溶酶体疾病相关基因

Groopman, Emily; Mohan, Shruthi; Waddell, Amber; Wilke, Matheus; Fernandez, Raquel; Weaver, Meredith; Chen, Hongjie; Liu, Hongbin; Bali, Deeksha; Baudet, Heather; Clarke, Lorne; Hung, Christina; Mao, Rong; Pinto E Vairo, Filippo; Racacho, Lemuel; Yuzyuk, Tatiana; Craigen, William J; Goldstein, Jennifer

Developing a scoring system for gene curation prioritization in lysosomal diseases

开发溶酶体疾病基因注释优先级排序评分系统

Vernet Machado Bressan Wilke, Matheus; Goldstein, Jennifer; Groopman, Emily; Mohan, Shruthi; Waddell, Amber; Fernandez, Raquel; Chen, Hongjie; Bali, Deeksha; Baudet, Heather; Clarke, Lorne; Hung, Christina; Mao, Rong; Yuzyuk, Tatiana; Craigen, William J; Pinto E Vairo, Filippo

Barriers to a successful healthcare transition for individuals with urea cycle disorders

尿素循环障碍患者成功过渡到医疗保健体系的障碍

Ladha, Farah A; Le Mons, Cynthia; Craigen, William J; Magoulas, Pilar L; Marom, Ronit; Lewis, Andrea M

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

转录组导向的孟德尔遗传病诊断分析克服了传统基因组检测的局限性

Murdock, David R; Dai, Hongzheng; Burrage, Lindsay C; Rosenfeld, Jill A; Ketkar, Shamika; Müller, Michaela F; Yépez, Vicente A; Gagneur, Julien; Liu, Pengfei; Chen, Shan; Jain, Mahim; Zapata, Gladys; Bacino, Carlos A; Chao, Hsiao-Tuan; Moretti, Paolo; Craigen, William J; Hanchard, Neil A; Lee, Brendan

Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction

通过新生儿筛查发现的CRIM阴性婴儿型庞贝病,其临床结局得以改善:早期酶替代疗法和免疫耐受诱导的益处

Li, Cindy; Desai, Ankit K; Gupta, Punita; Dempsey, Katherine; Bhambhani, Vikas; Hopkin, Robert J; Ficicioglu, Can; Tanpaiboon, Pranoot; Craigen, William J; Rosenberg, Amy S; Kishnani, Priya S

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

MORC2 ATPase 模块的新生突变导致神经发育障碍,伴有生长迟缓和不同程度的颅面畸形

Guillen Sacoto, Maria J; Tchasovnikarova, Iva A; Torti, Erin; Forster, Cara; Andrew, E Hallie; Anselm, Irina; Baranano, Kristin W; Briere, Lauren C; Cohen, Julie S; Craigen, William J; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J; Fatemi, Ali; Fraser, Jamie L; Gallagher, Renata C; Guerin, Andrea; Haynes, Devon; High, Frances A; Inglese, Cara N; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S; Morel, Chantal F; Mu, Weiyi; Muller, Eric A 2nd; Nance, Jessica; Natowicz, Marvin R; Numis, Adam L; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E; Streff, Haley; Sweetser, David A; Szybowska, Marta; Walker, Melissa A; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G; Yoon, Grace; Kingston, Robert E; Juusola, Jane

Deletion of VDAC1 Hinders Recovery of Mitochondrial and Renal Functions After Acute Kidney Injury

VDAC1基因缺失会阻碍急性肾损伤后线粒体和肾功能的恢复

Nowak, Grazyna; Megyesi, Judit; Craigen, William J

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

HIST1H1E C端尾部功能异常加速细胞衰老并导致过早衰老

Flex, Elisabetta; Martinelli, Simone; Van Dijck, Anke; Ciolfi, Andrea; Cecchetti, Serena; Coluzzi, Elisa; Pannone, Luca; Andreoli, Cristina; Radio, Francesca Clementina; Pizzi, Simone; Carpentieri, Giovanna; Bruselles, Alessandro; Catanzaro, Giuseppina; Pedace, Lucia; Miele, Evelina; Carcarino, Elena; Ge, Xiaoyan; Chijiwa, Chieko; Lewis, M E Suzanne; Meuwissen, Marije; Kenis, Sandra; Van der Aa, Nathalie; Larson, Austin; Brown, Kathleen; Wasserstein, Melissa P; Skotko, Brian G; Begtrup, Amber; Person, Richard; Karayiorgou, Maria; Roos, J Louw; Van Gassen, Koen L; Koopmans, Marije; Bijlsma, Emilia K; Santen, Gijs W E; Barge-Schaapveld, Daniela Q C M; Ruivenkamp, Claudia A L; Hoffer, Mariette J V; Lalani, Seema R; Streff, Haley; Craigen, William J; Graham, Brett H; van den Elzen, Annette P M; Kamphuis, Daan J; Õunap, Katrin; Reinson, Karit; Pajusalu, Sander; Wojcik, Monica H; Viberti, Clara; Di Gaetano, Cornelia; Bertini, Enrico; Petrucci, Simona; De Luca, Alessandro; Rota, Rossella; Ferretti, Elisabetta; Matullo, Giuseppe; Dallapiccola, Bruno; Sgura, Antonella; Walkiewicz, Magdalena; Kooy, R Frank; Tartaglia, Marco