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

Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia

CALM1/2相关疾病的表型扩展,包括不伴有心律失常的神经系统表型

Hoang, Hieu D; Spillmann, Rebecca C; Wegner, Daniel J; Tedesco, Maria G; Brohus, Malene; Novelli, Antonio; Stregapede, Fabrizia; Rogaia, Daniela; Troiani, Stefania; Lesinski, Jacob; Yuan, Weimin; Fielder, Sara M; Zhang, Bo; Morrison, Stephanie; Regmi, Suk; Foti, Miryam R S; Baldridge, Dustin; Silverman, Gary A; Shea, Patrick; Dickson, Patricia; Wambach, Jennifer A; Overgaard, Michael T; Jensen, Helene H; Olsen, Anders; Prontera, Paolo; Shashi, Vandana; Pak, Stephen C; Schedl, Tim

Transcription factors implicated in substance use disorder, from immediate early genes to altered gene expression

与物质使用障碍相关的转录因子,从早期基因到基因表达改变

Orr, Emily; Yi, Jiye; Baldridge, Dustin

Association of Social Determinants of Health With Genetic Test Request and Completion Rates in Children With Neurologic Disorders

社会健康决定因素与神经系统疾病儿童基因检测申请率和完成率之间的关联

Cole, Jordan Janae; Williams, Jonathan P; Sellitto, Angela D; Baratta, Laura Rosa; Huecker, Julia B; Baldridge, Dustin; Kannampallil, Thomas; Gurnett, Christina A; Balls-Berry, Joyce E

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder

HECTD1基因序列变异会导致不同的神经发育障碍

Zerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D; Ruiz, Anna; Manso-Basúz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L; Vilain, Eric; Arnadottir, Gudny A; Sulem, Patrick; Sulem, Telma S; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M; Valentine, Rozalia; Trowbridge, Sara K; Murali, Chaya N; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D; Keppler-Noreuil, Kim M; Hall, April L; McGivern, Bobbi; Monaghan, Kristin G; Guillen Sacoto, Maria J; Baldridge, Dustin; Silverman, Gary A; Dahiya, Sonika; Turner, Tychele N; Schedl, Tim; Corbin, Joshua G; Pak, Stephen C; Zohn, Irene E; Gurnett, Christina A

Developing a genetic return of results service core

开发基因回报结果服务核心

McKenzie, Jennifer A; McRoy, Erin; Bowling, Kevin M; Granadillo De Luque, Jorge Luis; Mozersky, Jessica; Linnenbringer, Erin; Baldridge, Dustin; Heusel, Jonathan W; Neidich, Julie A; Cashen, Amanda F; Bierut, Laura J; Hartz, Sarah M; Gurnett, Christina A

Finding buried genetic test results in the electronic health record is inefficient and variable across institutions

在电子健康记录中查找隐藏的基因检测结果效率低下,而且不同机构之间的差异也很大。

Veatch, Olivia J; Mathew, Jomol; Rockowitz, Shira; Baldridge, Dustin; Wetzel, Alyssa; Niarchou, Maria; Clarke, Megan; Shankar, Prabhu; Shankar, Suma; Cohen, Julie S; German, Kendell; Berger, Seth; Sellitto, Angela; Oh, Inez Y; Raizada, Rashi; Sliz, Piotr; Soby, Selvin; Kaplarevic, Mihailo; Doherty, Dan; Gropman, Andrea; Smith-Hicks, Constance; Neul, Jeffrey L; Lanzotti, Virginia; Darbro, Benjamin; Chang, Qiang; Sahin, Mustafa; Chopra, Maya

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

Brain malformations and seizures by impaired chaperonin function of TRiC

TRiC分子伴侣功能受损导致脑畸形和癫痫发作

Kraft, Florian; Rodriguez-Aliaga, Piere; Yuan, Weimin; Franken, Lena; Zajt, Kamil; Hasan, Dimah; Lee, Ting-Ting; Flex, Elisabetta; Hentschel, Andreas; Innes, A Micheil; Zheng, Bixia; Julia Suh, Dong Sun; Knopp, Cordula; Lausberg, Eva; Krause, Jeremias; Zhang, Xiaomeng; Trapane, Pamela; Carroll, Riley; McClatchey, Martin; Fry, Andrew E; Wang, Lisa; Giesselmann, Sebastian; Hoang, Hieu; Baldridge, Dustin; Silverman, Gary A; Radio, Francesca Clementina; Bertini, Enrico; Ciolfi, Andrea; Blood, Katherine A; de Sainte Agathe, Jean-Madeleine; Charles, Perrine; Bergant, Gaber; Čuturilo, Goran; Peterlin, Borut; Diderich, Karin; Streff, Haley; Robak, Laurie; Oegema, Renske; van Binsbergen, Ellen; Herriges, John; Saunders, Carol J; Maier, Andrea; Wolking, Stefan; Weber, Yvonne; Lochmüller, Hanns; Meyer, Stefanie; Aleman, Alberto; Polavarapu, Kiran; Nicolas, Gael; Goldenberg, Alice; Guyant, Lucie; Pope, Kathleen; Hehmeyer, Katherine N; Monaghan, Kristin G; Quade, Annegret; Smol, Thomas; Caumes, Roseline; Duerinckx, Sarah; Depondt, Chantal; Van Paesschen, Wim; Rieubland, Claudine; Poloni, Claudia; Guipponi, Michel; Arcioni, Severine; Meuwissen, Marije; Jansen, Anna C; Rosenblum, Jessica; Haack, Tobias B; Bertrand, Miriam; Gerstner, Lea; Magg, Janine; Riess, Olaf; Schulz, Jörg B; Wagner, Norbert; Wiesmann, Martin; Weis, Joachim; Eggermann, Thomas; Begemann, Matthias; Roos, Andreas; Häusler, Martin; Schedl, Tim; Tartaglia, Marco; Bremer, Juliane; Pak, Stephen C; Frydman, Judith; Elbracht, Miriam; Kurth, Ingo

Clinical variants paired with phenotype: A rich resource for brain gene curation

临床变异与表型相结合:脑基因注释的丰富资源

Chopra, Maya; Savatt, Juliann M; Bingaman, Taylor I; Good, Molly E; Morgan, Alexis; Cooney, Caitlin; Rossel, Allison M; VanHoute, Bryanna; Cordova, Ineke; Mahida, Sonal; Lanzotti, Virginia; Baldridge, Dustin; Gurnett, Christina A; Piven, Joseph; Hazlett, Heather; Pomeroy, Scott L; Sahin, Mustafa; Payne, Philip R O; Riggs, Erin Rooney; Constantino, John N

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.

FAM177A1 是一种定位于高尔基体的蛋白质,其功能丧失会导致一种新的神经发育障碍

Kohler Jennefer N, Legro Nicole R, Baldridge Dustin, Shin Jimann, Bowman Angela, Ugur Berrak, Jackstadt Madelyn M, Shriver Leah P, Patti Gary J, Zhang Bo, Feng Wenjia, McAdow Anthony R, Goddard Pagé, Ungar Rachel A, Jensen Tanner, Smith Kevin S, Fresard Laure, Alvarez Raquel, Bonner Devon, Reuter Chloe M, McCormack Colleen, Kravets Elijah, Marwaha Shruti, Holt James M, Worthey Elizabeth A, Ashley Euan A, Montgomery Stephen B, Fisher Paul G, Postlethwait John, De Camilli Pietro, Solnica-Krezel Lila, Bernstein Jonathan A, Wheeler Matthew T