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

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

ZNF142基因的双等位基因功能缺失变异与影响有限数量基因组位点的强效DNA甲基化特征相关。

Hildonen, Mathis; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Al Alam, Chadi; Amor, David J; Barakat, Tahsin Stefan; Benoit, Valérie; Birk, Ohad Shmuel; Callewaert, Bert; Cazurro-Gutiérrez, Ana; De Wachter, Matthias; Doco-Fenzy, Martine; Gómez-Puertas, Paulino; Hammer, Trine Bjørg; Jamra, Rami Abou; Kaiyrzhanov, Rauan; Kameyama, Shinichi; Keren, Boris; Kresge, Christina; Krey, Ilona; Lederer, Damien; Marcos-Alcalde, Iñigo; Maroofian, Reza; Matsumoto, Naomichi; Mizuguchi, Takeshi; Moey, Lip-Hen; Morgan, Angela; Munell, Francina; Platzer, Konrad; Pletcher, Beth A; Ros-Pardo, David; Rumping, Lynne; Szakszon, Katalin; Van Schil, Kristof; Verdura, Edgard; Vogt, Julie; Wassmer, Evangeline; Zamani, Mina; Tümer, Zeynep; Tartaglia, Marco

Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy

快速基因组检测对急性重症癫痫患儿临床结局的影响

Sasaki, Erina; Millington, Philip; Sazonova, Taisiia; Hanington, Lucy; Parrish, Andrew; Banos-Pinero, Benito; Lord, Helen; Taylor, John; Jeeneea, Ramanand; Sherlaw-Sturrock, Charlotte; Parida, Amitav; Vogt, Julie; Naik, Swathi; Sa, Mario; Kini, Usha

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

BORCS5 中的致病变异会导致一系列神经发育障碍和神经退行性疾病,并伴有溶酶体功能障碍

Mencacci Niccolò E, Minakaki Georgia, Maroofian Reza, De Pace Raffaella, Paimboeuf Adeline, Shannon Patrick, Chitayat David, Magrinelli Francesca, Peng Wesley J, Chatterjee Diptaman, Eldessouky Sara H, Baptista Julia, Marton Tamas, Vogt Julie, Ortigoza-Escobar Juan Dario, Martorell Loreto, Gómez-Chiari Marta, Wentzensen Ingrid M, Kamsteeg Erik-Jan, Zaki Maha S, Scardamaglia Annarita, Zifarelli Giovanni, Al-Hassnan Zuhair Nasser, Miller Elka, Shinar Shiri, Matsa Lova S, Appikonda Sri Hari Chandan, Schwake Michael, Severino Mariasavina, Houlden Henry, Patten Shunmoogum A, Bonifacino Juan S, Bhatia Kailash P, Krainc Dimitri

FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6

FILIP1相关神经肌肉疾病和父系UPD6导致的表型混合

Watts, Laura M; Bunyan, David J; Giacopuzzi, Edoardo; Walker, Susan; Gazdagh, Gabriella; Thomas, N Simon; Straub, Volker; Childs, Anne-Marie; Forsyth, Joan; Vogt, Julie; Khan, Shagufta; Willis, Tracey A; Taylor, Jenny C; Pagnamenta, Alistair T

Human Alzheimer's Disease ATN/ABC Staging Applied to Aging Rhesus Macaque Brains: Association With Cognition and MRI-Based Regional Gray Matter Volume

将人类阿尔茨海默病ATN/ABC分期应用于衰老恒河猴大脑:与认知和基于MRI的区域灰质体积的关联

Barnes, Carol A; Permenter, Michele R; Vogt, Julie A; Chen, Kewei; Beach, Thomas G

FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia

FOXP1单倍体不足导致先天性膈疝的发生

Pendleton, Katherine E; Hernandez-Garcia, Andres; Lyu, Jennifer M; Campbell, Ian M; Shaw, Chad A; Vogt, Julie; High, Frances A; Donahoe, Patricia K; Chung, Wendy K; Scott, Daryl A

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

对465个患有神经发育障碍的家庭进行基因组测序和全面的罕见变异分析

Sanchis-Juan, Alba; Megy, Karyn; Stephens, Jonathan; Armirola Ricaurte, Camila; Dewhurst, Eleanor; Low, Kayyi; French, Courtney E; Grozeva, Detelina; Stirrups, Kathleen; Erwood, Marie; McTague, Amy; Penkett, Christopher J; Shamardina, Olga; Tuna, Salih; Daugherty, Louise C; Gleadall, Nicholas; Duarte, Sofia T; Hedrera-Fernández, Antonio; Vogt, Julie; Ambegaonkar, Gautam; Chitre, Manali; Josifova, Dragana; Kurian, Manju A; Parker, Alasdair; Rankin, Julia; Reid, Evan; Wakeling, Emma; Wassmer, Evangeline; Woods, C Geoffrey; Raymond, F Lucy; Carss, Keren J

Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder

杂合子和纯合子JPH3功能缺失变异均与阵发性运动障碍相关

Steel, Dora; Vezyroglou, Aikaterini; Barwick, Katy; Smith, Martin; Vogt, Julie; Gibbon, Frances M; Cross, J Helen; Kurian, Manju A

Dopamine D3/D2 Receptor Ligands Based on Cariprazine for the Treatment of Psychostimulant Use Disorders That May Be Dual Diagnosed with Affective Disorders

基于卡利拉嗪的多巴胺 D3/D2 受体配体,用于治疗可能与情感障碍双重诊断的精神兴奋剂使用障碍

Emma S Gogarnoiu, Caleb D Vogt, Julie Sanchez, Alessandro Bonifazi, Elizabeth Saab, Anver Basha Shaik, Omar Soler-Cedeño, Guo-Hua Bi, Benjamin Klein, Zheng-Xiong Xi, J Robert Lane, Amy Hauck Newman

Clinical and functional consequences of GRIA variants in patients with neurological diseases

GRIA 变异对神经系统疾病患者的临床和功能影响

Wenshu XiangWei, Riley E Perszyk, Nana Liu, Yuchen Xu, Subhrajit Bhattacharya, Gil H Shaulsky, Constance Smith-Hicks, Ali Fatemi, Andrew E Fry, Kate Chandler, Tao Wang, Julie Vogt, Julie S Cohen, Alex R Paciorkowski, Annapurna Poduri, Yuehua Zhang, Shuang Wang, Yuping Wang, Qiongxiang Zhai, Fang Fan