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

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

TRIM71 基因突变会导致以脑室扩大和脑积水为特征的神经发育综合征

Duy Phan Q, Jux Bettina, Zhao Shujuan, Mekbib Kedous Y, Dennis Evan, Dong Weilai, Nelson-Williams Carol, Mehta Neel H, Shohfi John P, Juusola Jane, Allington Garrett, Smith Hannah, Marlin Sandrine, Belhous Kahina, Monteleone Berrin, Schaefer G Bradley, Pisarska Margareta D, Vásquez Jaime, Estrada-Veras Juvianee I, Keren Boris, Mignot Cyril, Flore Leigh A, Palafoll Irene V, Alper Seth L, Lifton Richard P, Haider Shozeb, Moreno-De-Luca Andres, Jin Sheng Chih, Kolanus Waldemar, Kahle Kristopher T

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

INTS11基因的双等位基因变异与一种复杂的神经系统疾病相关。

Tepe, Burak; Macke, Erica L; Niceta, Marcello; Weisz Hubshman, Monika; Kanca, Oguz; Schultz-Rogers, Laura; Zarate, Yuri A; Schaefer, G Bradley; Granadillo De Luque, Jorge Luis; Wegner, Daniel J; Cogne, Benjamin; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Wagner, Eric J; Pais, Lynn S; Neil, Jennifer E; Mochida, Ganeshwaran H; Walsh, Christopher A; Magal, Nurit; Drasinover, Valerie; Shohat, Mordechai; Schwab, Tanya; Schmitz, Chris; Clark, Karl; Fine, Anthony; Lanpher, Brendan; Gavrilova, Ralitza; Blanc, Pierre; Burglen, Lydie; Afenjar, Alexandra; Steel, Dora; Kurian, Manju A; Prabhakar, Prab; Gößwein, Sophie; Di Donato, Nataliya; Bertini, Enrico S; Wangler, Michael F; Yamamoto, Shinya; Tartaglia, Marco; Klee, Eric W; Bellen, Hugo J

The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study

OTOF相关听觉神经病谱系障碍的自然史:一项多中心研究

Thorpe, Ryan K; Azaiez, Hela; Wu, Peina; Wang, Qiuju; Xu, Lei; Dai, Pu; Yang, Tao; Schaefer, G Bradley; Peters, B Robert; Chan, Kenny H; Schatz, Krista S; Bodurtha, Joann; Robin, Nathaniel H; Hirsch, Yoel; Rahbeeni, Zuhair Abdalla; Yuan, Huijun; Smith, Richard J H

Multidisciplinary Consulting Team for Complicated Cases of Neurodevelopmental and Neurobehavioral Disorders: Assessing the Opportunities and Challenges of Integrating Pharmacogenomics into a Team Setting

针对复杂神经发育和神经行为障碍病例的多学科咨询团队:评估将药物基因组学整合到团队环境中的机遇和挑战

Gill, Pritmohinder S; Elchynski, Amanda L; Porter-Gill, Patricia A; Goodson, Bradley G; Scott, Mary Ann; Lipinski, Damon; Seay, Amy; Kehn, Christina; Balmakund, Tonya; Schaefer, G Bradley

Identification of DCAF1 by Clinical Exome Sequencing and Methylation Analysis as a Candidate Gene for Autism and Intellectual Disability: A Case Report

通过临床外显子组测序和甲基化分析鉴定DCAF1为自闭症和智力障碍的候选基因:病例报告

Clothier, Jeffery L; Grooms, Amy N; Porter-Gill, Patricia A; Gill, Pritmohinder S; Schaefer, G Bradley

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

TET3 缺乏会导致人类全血中出现全基因组 DNA 高甲基化表观遗传特征。

Levy, Michael A; Beck, David B; Metcalfe, Kay; Douzgou, Sofia; Sithambaram, Sivagamy; Cottrell, Trudie; Ansar, Muhammad; Kerkhof, Jennifer; Mignot, Cyril; Nougues, Marie-Christine; Keren, Boris; Moore, Hannah W; Oegema, Renske; Giltay, Jacques C; Simon, Marleen; van Jaarsveld, Richard H; Bos, Jessica; van Haelst, Mieke; Motazacker, M Mahdi; Boon, Elles M J; Santen, Gijs W E; Ruivenkamp, Claudia A L; Alders, Marielle; Luperchio, Teresa Romeo; Boukas, Leandros; Ramsey, Keri; Narayanan, Vinodh; Schaefer, G Bradley; Bonasio, Roberto; Doheny, Kimberly F; Stevenson, Roger E; Banka, Siddharth; Sadikovic, Bekim; Fahrner, Jill A

Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

作者更正:TET3 缺乏会导致人类全血中出现全基因组 DNA 高甲基化表观遗传特征。

Levy, Michael A; Beck, David B; Metcalfe, Kay; Douzgou, Sofia; Sithambaram, Sivagamy; Cottrell, Trudie; Ansar, Muhammad; Kerkhof, Jennifer; Mignot, Cyril; Nougues, Marie-Christine; Keren, Boris; Moore, Hannah W; Oegema, Renske; Giltay, Jacques C; Simon, Marleen; van Jaarsveld, Richard H; Bos, Jessica; van Haelst, Mieke; Motazacker, M Mahdi; Boon, Elles M J; Santen, Gijs W E; Ruivenkamp, Claudia A L; Alders, Marielle; Luperchio, Teresa Romeo; Boukas, Leandros; Ramsey, Keri; Narayanan, Vinodh; Schaefer, G Bradley; Bonasio, Roberto; Doheny, Kimberly F; Stevenson, Roger E; Banka, Siddharth; Sadikovic, Bekim; Fahrner, Jill A

Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital

药物基因组学检测的实施:阿肯色州儿童医院的单中心经验

Gill, Pritmohinder S; Yu, Feliciano B; Porter-Gill, Patricia A; Boyanton, Bobby L; Allen, Judy C; Farrar, Jason E; Veerapandiyan, Aravindhan; Prodhan, Parthak; Bielamowicz, Kevin J; Sellars, Elizabeth; Burrow, Andrew; Kennedy, Joshua L; Clothier, Jeffery L; Becton, David L; Rule, Don; Schaefer, G Bradley

Molecular Dysregulation in Autism Spectrum Disorder

自闭症谱系障碍的分子失调

Gill, Pritmohinder S; Clothier, Jeffery L; Veerapandiyan, Aravindhan; Dweep, Harsh; Porter-Gill, Patricia A; Schaefer, G Bradley

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

人类DNA去甲基化机制孟德尔遗传病的阐明:TET3缺陷

Beck, David B; Petracovici, Ana; He, Chongsheng; Moore, Hannah W; Louie, Raymond J; Ansar, Muhammad; Douzgou, Sofia; Sithambaram, Sivagamy; Cottrell, Trudie; Santos-Cortez, Regie Lyn P; Prijoles, Eloise J; Bend, Renee; Keren, Boris; Mignot, Cyril; Nougues, Marie-Christine; Õunap, Katrin; Reimand, Tiia; Pajusalu, Sander; Zahid, Muhammad; Saqib, Muhammad Arif Nadeem; Buratti, Julien; Seaby, Eleanor G; McWalter, Kirsty; Telegrafi, Aida; Baldridge, Dustin; Shinawi, Marwan; Leal, Suzanne M; Schaefer, G Bradley; Stevenson, Roger E; Banka, Siddharth; Bonasio, Roberto; Fahrner, Jill A