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

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

A humanized mouse model for adeno-associated viral gene therapy

用于腺相关病毒基因治疗的人源化小鼠模型

Mercedes Barzi # ,Tong Chen # ,Trevor J Gonzalez ,Francis P Pankowicz ,Seh Hoon Oh ,Helen L Streff ,Alan Rosales ,Yunhan Ma ,Sabrina Collias ,Sarah E Woodfield ,Anna Mae Diehl ,Sanjeev A Vasudevan ,Thao N Galvan ,John Goss ,Charles A Gersbach ,Beatrice Bissig-Choisat ,Aravind Asokan ,Karl-Dimiter Bissig

Late break abstract - 2024

2024 年最新摘要

Vuocolo, Blake; German, Ryan J; Lalani, Seema R; Murali, Chaya N; Bacino, Carlos A; Baskin, Stephanie; Littlejohn, Rebecca; Odom, John D; McLean, Scott; Schmid, Carrie; Nutter, Morgan; Stuebben, Melissa; Magness, Emily; Juarez, Olivia; El Achi, Dina; Mitchell, Bailey; Glinton, Kevin E; Robak, Laurie; Nagamani, Sandesh C S; Saba, Lisa; Ritenour, Adasia; Zhang, Lilei; Streff, Haley; Chan, Katie; Kemere, K Jordan; Carter, Kent; Owen, Nichole; Vossaert, Liesbeth; Liu, Pengfei; Bellen, Hugo; Wangler, Michael F

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes

对神经发育障碍队列进行负担重新分析,以确定候选基因的优先顺序

Smal, Noor; Majdoub, Fatma; Janssens, Katrien; Reyniers, Edwin; Meuwissen, Marije E C; Ceulemans, Berten; Northrup, Hope; Hill, Jeremy B; Liu, Lingying; Errichiello, Edoardo; Gana, Simone; Strong, Alanna; Rohena, Luis; Franciskovich, Rachel; Murali, Chaya N; Huybrechs, An; Sulem, Telma; Fridriksdottir, Run; Sulem, Patrick; Stefansson, Kari; Bai, Yan; Rosenfeld, Jill A; Lalani, Seema R; Streff, Haley; Kooy, R Frank; Weckhuysen, Sarah

FOXI3 pathogenic variants cause one form of craniofacial microsomia

FOXI3致病变异会导致一种颅面短小症。

Ke Mao # ,Christelle Borel # ,Muhammad Ansar # ,Angad Jolly ,Periklis Makrythanasis ,Christine Froehlich ,Justyna Iwaszkiewicz ,Bingqing Wang ,Xiaopeng Xu ,Qiang Li ,Xavier Blanc ,Hao Zhu ,Qi Chen ,Fujun Jin ,Harinarayana Ankamreddy ,Sunita Singh ,Hongyuan Zhang ,Xiaogang Wang ,Peiwei Chen ,Emmanuelle Ranza ,Sohail Aziz Paracha ,Syed Fahim Shah ,Valentina Guida ,Francesca Piceci-Sparascio ,Daniela Melis ,Bruno Dallapiccola ,Maria Cristina Digilio ,Antonio Novelli ,Monia Magliozzi ,Maria Teresa Fadda ,Haley Streff ,Keren Machol ,Richard A Lewis ,Vincent Zoete ,Gabriella Maria Squeo ,Paolo Prontera ,Giorgia Mancano ,Giulia Gori ,Milena Mariani ,Angelo Selicorni ,Stavroula Psoni ,Helen Fryssira ,Sofia Douzgou ,Sandrine Marlin ,Saskia Biskup ,Alessandro De Luca ,Giuseppe Merla ,Shouqin Zhao ,Timothy C Cox ,Andrew K Groves ,James R Lupski ,Qingguo Zhang ,Yong-Biao Zhang ,Stylianos E Antonarakis

Dietary Hempseed Decreases Femur Maximum Load in a Young Female C57BL/6 Mouse Model but Does Not Influence Bone Mineral Density or Micro-Architecture

膳食中添加大麻籽可降低年轻雌性C57BL/6小鼠模型的股骨最大负荷,但不影响骨矿物质密度或微观结构。

Sparks, Chandler A; Streff, Hailey M; Williams, Derrick W; Blanton, Cynthia A; Gabaldón, Annette M

Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4.

组蛋白连接子 H1-4 的突变与神经发育障碍及表达 C 端移码突变体 H1.4 的神经元的功能特征

Tremblay Martine W, Green Matthew V, Goldstein Benjamin M, Aldridge Andrew I, Rosenfeld Jill A, Streff Haley, Tan Wendy D, Craigen William, Bekheirnia Nasim, Al Tala Saeed, West Anne E, Jiang Yong-Hui

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation

OTUD5 变异与 X 连锁智力障碍和先天性畸形相关

Saida, Ken; Fukuda, Tokiko; Scott, Daryl A; Sengoku, Toru; Ogata, Kazuhiro; Nicosia, Annarita; Hernandez-Garcia, Andres; Lalani, Seema R; Azamian, Mahshid S; Streff, Haley; Liu, Pengfei; Dai, Hongzheng; Mizuguchi, Takeshi; Miyatake, Satoko; Asahina, Miki; Ogata, Tsutomu; Miyake, Noriko; Matsumoto, Naomichi

Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders.

对神经发育障碍患者中发现的罕见功能丧失型 NPAS3 和 NPAS4 变异体进行分子表征

Rossi Joseph J, Rosenfeld Jill A, Chan Katie M, Streff Haley, Nankivell Victoria, Peet Daniel J, Whitelaw Murray L, Bersten David C

The Importance of Professional Discourse for the Continual Advancement of Practice Standards: The RBT® as a Case in Point

专业对话对于持续提升实践标准的重要性:以注册行为技术员 (RBT®) 为例

Leaf, Justin B; Leaf, Ronald; McEachin, John; Bondy, Andy; Cihon, Joseph H; Detrich, Ronnie; Eshleman, John; Ferguson, Julia L; Foxx, Richard M; Freeman, B J; Gerhardt, Peter; Glenn, Sigrid S; Miller, Megan; Milne, Christine M; Mountjoy, Toby; Parker, Tracee; Pritchard, Joshua; Ross, Robert K; Saunders, Melissa S; Streff, Todd