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

Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts

在两个独立的队列中检验多基因评分对多种性状解释脑瘫的性能

Thomas, Jodi T; Berry, Alexander S F; Oetjens, Matthew T; Berry, Jesia G; MacLennan, Alastair H; Gordon, Scott D; Hale, Andrew T; Olsen, Catherine M; Whiteman, David C; Torene, Rebecca I; Ledbetter, David H; Martin, Nicholas G; van Eyk, Clare L; Gecz, Jozef; Myers, Scott M; Mitchell, Brittany L; Corbett, Mark A

Serum Proteomics Reveals Diagnostic Biomarkers and Molecular Pathways in Cerebral Palsy

血清蛋白质组学揭示脑瘫的诊断生物标志物和分子通路

Xu, Yiran; Ma, Chi; Sun, Yanyan; Zhu, Jiajun; He, Shiman; Gao, Hui; Tan, Subei; Zhang, Lingling; Feng, Jinwen; Wang, Yangong; Tian, Sha; Xing, Qinghe; Zhang, Jiamei; Wu, Yanan; Zhang, Xiaoli; Zhang, Lirong; Zhu, Dengna; Kruer, Michael; Wang, Xiaoyang; Gecz, Jozef; Zhu, Changlian; Ding, Chen

Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study

脑瘫患儿MRI模式的基因诊断率:一项基于人群的研究

Berry, Jesia G; Taranath, Ajay; Goetti, Robert; Farrar, Michelle A; Fiori, Simona; Pham, Huy-Dat; Mittinty, Murthy N; Corbett, Mark A; Palmer, Lyle J; Fornarino, Dani L; Harper, Kelly; Gibson, Catherine S; Leishman, Shaneen J; Goldsmith, Shona C; McIntyre, Sarah J; Montgomerie, Alicia; Pilkington, Rhiannon M; Lynch, John W; Russo, Remo N; Fahey, Michael C; Fripp, Jurgen; Boyd, Roslyn N; Wright, Margaret J; Rice, James E; Waugh, Mary-Clare; MacLennan, Alastair H; Gecz, Jozef; van Eyk, Clare L

C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder

GPKOW基因C端移码变异与一种多系统性X连锁疾病相关。

Mok, Jung-Wan; Mackay, Laura; Blazo, Maria; Mizerik, Elizabeth; Gecz, Jozef; Carroll, Renee; Nizon, Mathilde; Rondeau, Sophie; Joubert, Madeleine; Cuinat, Silvestre; Deb, Wallid; Valle Sirias, Fernanda; Weisz-Hubshman, Monika; Ketkar, Shamika; Polak, Urszula; Tran, Alyssa A; Kearney, Debra; Hanchard, Neil A; Kanca, Oguz; Wangler, Michael F; Bellen, Hugo J; Lee, Brendan H; Yamamoto, Shinya; Machol, Keren

Optical genome mapping enables accurate testing of large repeat expansions

光学基因组图谱能够对大片段重复序列扩增进行精确检测

van der Sanden, Bart; Neveling, Kornelia; Shukor, Syukri; Gallagher, Michael D; Lee, Joyce; Burke, Stephanie L; Pennings, Maartje; van Beek, Ronald; Oorsprong, Michiel; Kater-Baats, Ellen; Kamping, Eveline; Tieleman, Alide A; Voermans, Nicol C; Scheffer, Ingrid E; Gecz, Jozef; Corbett, Mark A; Vissers, Lisenka E L M; Pang, Andy Wing Chun; Hastie, Alex; Kamsteeg, Erik-Jan; Hoischen, Alexander

Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy

与进行性肌阵挛性癫痫和家族性成人肌阵挛性癫痫相关的MARCHF6重复扩增的新型复杂构型

Bennett, Mark F; Corbett, Mark A; Kroes, Thessa; Canafoglia, Laura; Oliver, Karen L; Cameron, Jillian M; Sikta, Neblina; Munro, Jacob; Fearnley, Liam G; Ibañez, Kristina; Tucci, Arianna; Sisodiya, Sanjay M; Hildebrand, Michael S; Scheffer, Ingrid E; Courage, Carolina; Lehesjoki, Anna-Elina; Giuliano, Loretta; Didato, Giuseppe; Franceschetti, Silvana; Gecz, Jozef; Berkovic, Samuel F; Bahlo, Melanie

PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism

PAK3致病变异与睡眠相关性高运动性癫痫相关,该家族存在父母嵌合现象

Gambardella, Antonio; Liu, Yu-Chi; Bennett, Mark F; Green, Timothy E; Damiano, John A; Fortunato, Francesco; Coleman, Matthew J; Cherfils, Jacqueline; Barnier, Jean-Vianney; Gecz, Jozef; Bahlo, Melanie; Berkovic, Samuel F; Hildebrand, Michael S

CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome

CCDC22 基因突变导致 COMMD 结合受损,从而引起 3C/Ritscher-Schinzel 综合征的减轻型。

Amika Singla ,Carolyn Rogers ,Mary-Joe Touma ,Yassin El-Najjar ,Alison Colley ,Daniel J Boesch ,Daniel D Billadeau ,Jozef Gecz ,Baoyu Chen ,Ezra Burstein

WNT signalling control by KDM5C during development affects cognition

发育过程中 KDM5C 控制的 WNT 信号传导影响认知

Violetta Karwacki-Neisius, Ahram Jang, Engin Cukuroglu #, Albert Tai #, Alan Jiao #, Danilo Predes #, Joon Yoon #, Emily Brookes #, Jiekai Chen, Aimee Iberg, Florian Halbritter, Katrin Õunap, Jozef Gecz, Thorsten M Schlaeger, Shannan Ho Sui, Jonathan Göke, Xi He, Maria K Lehtinen, Scott L Pomeroy, Y

Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway

发育中的哺乳动物大脑的蛋白质组学分析将 PCDH19 与 Wnt/β-catenin 信号通路联系起来

Rebekah de Nys, Alison Gardner, Clare van Eyk, Stefka Mincheva-Tasheva, Paul Thomas, Rudrarup Bhattacharjee, Lachlan Jolly, Isabel Martinez-Garay, Ian W J Fox, Karthik Shantharam Kamath, Raman Kumar, Jozef Gecz