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

Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range

编码突触前蛋白 Bassoon 的 BSN 基因变异会导致一种独特的神经发育障碍,其表型范围很广。

Guzman, Stacy G; Ruggiero, Sarah M; Ganesan, Shiva; Ellis, Colin A; Harrison, Alicia G; Sullivan, Katie R; Stark, Zornitza; Brown, Natasha J; Kana, Sajel L; Tuttle, Anabelle; Tenorio, Jair; Lapunzina, Pablo; Nevado, Julián; McDonald, Marie T; Jensen, Courtney; Wheeler, Patricia G; Stange, Lila; Morrison, Jennifer; Keren, Boris; Heide, Solveig; Keating, Meg W; Butler, Kameryn M; Lyons, Mike A; Jain, Shailly; Yeganeh, Mehdi; Thompson, Michelle L; Schroeder, Molly; Nguyen, Hoanh; Granadillo, Jorge; Johnston, Kari M; Murali, Chaya N; Bosanko, Katie; Burrow, T Andrew; Morgan, Syreeta; Watson, Deborah J; Hakonarson, Hakon; Helbig, Ingo

MCT8 Deficiency in Females

女性MCT8缺乏症

Groeneweg, Stefan; van Geest, Ferdy S; van der Most, Floor; Abela, Lucia; Alfieri, Paolo; Bauer, Andrew J; Bertini, Enrico; Cappa, Marco; Çelik, Nurullah; de Coo, Irenaeus F M; Dolcetta-Capuzzo, Anna; Dubinski, Ilja; Granadillo, Jorge L; Hoefsloot, Lies H; Kalscheuer, Vera M; van der Knoop, Marieke M; Krude, Heiko; McNerney, Kyle P; Paone, Laura; Peeters, Robin P; Peters, Catherine; Schuelke, Markus; Schweizer, Ulrich; Sprague, Jennifer E; van Trotsenburg, A S Paul; Wilpert, Nina-Maria; Zanni, Ginevra; van Zutven, Laura J C M; Visser, W Edward

Behavioral and neural effects of temporoparietal high-definition transcranial direct current stimulation in logopenic variant primary progressive aphasia: a preliminary study

颞顶叶高分辨率经颅直流电刺激对语词缺失型原发性进行性失语症的行为和神经效应:一项初步研究

Granadillo, Elias D; Fellmeth, Mason; Youssofzadeh, Vahab; Heffernan, Joseph; Shah-Basak, Priyanka P; Pillay, Sara B; Ustine, Candida; Kraegel, Peter; Schold, Shelby; Mueller, Kimberly D; Ikonomidou, Chrysanthy; Okonkwo, Ozioma; Raghavan, Manoj; Binder, Jeffrey R

Differential effects on tumor progression by APOBEC3A, APOBEC3B, and APOBEC3H Haplotype I in a breast cancer mouse xenograft model

APOBEC3A、APOBEC3B 和 APOBEC3H 单倍型 I 在乳腺癌小鼠异种移植模型中对肿瘤进展的不同影响

Granadillo Rodríguez, Milaid; Wong, Lai; Shayeganmehr, Arzhang; Pellegrina, Diogo; Vizeacoumar, Frederick S; Vizeacoumar, Franco J; Helmy, Mohamed; Chelico, Linda

A survey of hypothalamic phenotypes identifies molecular and behavioral consequences of MYT1L haploinsufficiency in male and female mice

一项针对下丘脑表型的研究揭示了MYT1L单倍体不足在雄性和雌性小鼠中的分子和行为后果。

Maloney, Susan E; McCullough, Katherine B; Chaturvedi, Sneha M; Selmanovic, Din; Chase, Rebecca; Chen, Jiayang; Wu, Shanyun; Granadillo, Jorge L; Kroll, Kristen L; Dougherty, Joseph D

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

Severe Neurological Presentation in Siblings With COQ5-Related Primary Coenzyme Q10 Deficiency: Expanding Clinical and Molecular Spectrum

COQ5相关原发性辅酶Q10缺乏症患儿的严重神经系统表现:不断扩展的临床和分子谱

Wongkittichote, Parith; Guerra, Rachel M; Wegner, Daniel J; Toy, Samantha; Hauer, Jacqueline A; Pagliarini, David J; Granadillo, Jorge L

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

远程医疗在评估未确诊罕见病患者方面有效:一项未确诊疾病网络研究

Tan, Queenie K-G; McConkie-Rosell, Allyn; Brown, Rachel M; Spillmann, Rebecca C; Schoch, Kelly; Chanprasert, Sirisak; Acosta, Maria T; Toro, Camilo; Rosenfeld, Jill A; Orengo, James P; Scott, Daryl A; Granadillo, Jorge L; Sisco, Kathleen; Wegner, Daniel J; Tekin, Mustafa; Bivona, Stephanie; Peart, LéShon; Rodan, Lance; Bonner, Devon; Wheeler, Matthew T; Bernstein, Jonathan A; Ruzhnikov, Maura; Adams, David R; Hisama, Fuki M; Shashi, Vandana

Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range

编码突触前蛋白 Bassoon 的 BSN 基因变异会导致一种新型神经发育障碍,其表型范围很广。

Guzman, Stacy G; Ruggiero, Sarah M; Ganesan, Shiva; Ellis, Colin A; Harrison, Alicia G; Sullivan, Katie R; Stark, Zornitza; Brown, Natasha J; Kana, Sajel L; Tuttle, Anabelle; Tenorio, Jair; Lapunzina, Pablo; Nevado, Julián; McDonald, Marie T; Jensen, Courtney; Wheeler, Patricia G; Stange, Lila; Morrison, Jennifer; Keren, Boris; Heide, Solveig; Keating, Meg W; Butler, Kameryn M; Lyons, Mike A; Jain, Shailly; Yeganeh, Mehdi; Thompson, Michelle L; Schroeder, Molly; Nguyen, Hoanh; Granadillo, Jorge; Johnston, Kari M; Murali, Chaya N; Bosanko, Katie; Burrow, T Andrew; Morgan, Syreeta; Watson, Deborah J; Hakonarson, Hakon; Helbig, Ingo

Neurobehavioral Profiles and Clinical Consequences of MYT1L-Related Neurodevelopmental Disorder: Insights from the Brain Gene Registry

MYT1L相关神经发育障碍的神经行为特征和临床后果:来自脑基因登记库的启示

Granadillo, Jorge L; Kaster, Levi; Grewal, Daleep; Schreiber, Allyson; Abbacchi, Anna M; Lanzotti, Virginia; Gupta, Aditi; Gurnett, Christina A; Kroll, Kristen L; Dougherty, Joseph D