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

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation

新型PCDH12致病性错义变异导致神经发育障碍和眼部畸形

Rakotomamonjy, Jennifer; Fares-Taie, Lucas; Kumar, Raman; Gebert, Cole; Magaña-Hernandez, Laura; Blaszkiewicz, Anna; Benson, Theresa; Fairbanks-Santana, Martín; Trejo, Angela; Rogers, R Curtis; Mayer, Claudine; Chennen, Kirsley; Poch, Olivier; Bardakjian, Tanya M; Tropea, Thomas F; Gonzalez-Alegre, Pedro; Carvill, Gemma L; Zhang, Jamie; Agarwala, Shreya; Jolly, Lachlan A; Van Bergen, Nicole J; Balasubramaniam, Shanti; Ellaway, Carolyn J; Christodoulou, John; Gecz, Jozef; Rozet, Jean-Michel; Guemez-Gamboa, Alicia

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

What’s new in EJHG in May 2025?

2025年5月EJHG有哪些新内容?

Tiller, Jane; Bakshi, Andrew; Dowling, Grace; Keogh, Louise; McInerney-Leo, Aideen; Barlow-Stewart, Kristine; Boughtwood, Tiffany; Gleeson, Penny; Delatycki, Martin B; Winship, Ingrid; Otlowski, Margaret; Lacaze, Paul; Michot, Caroline; Le Goff, Carine; Mahaut, Clémentine; Afenjar, Alexandra; Brooks, Alice S; Campeau, Philippe M; Destree, Anne; Di Rocco, Maja; Donnai, Dian; Hennekam, Raoul; Heron, Delphine; Jacquemont, Sébastien; Kannu, Peter; Lin, Angela E; Manouvrier-Hanu, Sylvie; Mansour, Sahar; Marlin, Sandrine; McGowan, Ruth; Murphy, Helen; Raas-Rothschild, Annick; Rio, Marléne; Simon, Marleen; Stolte-Dijkstra, Irene; Stone, James R; Sznajer, Yves; Tolmie, John; Touraine, Renaud; van den Ende, Jenneke; Van der Aa, Nathalie; van Essen, Ton; Verloes, Alain; Munnich, Arnold; Cormier-Daire, Valérie; Shanks, Morag E; Downes, Susan M; Copley, Richard R; Lise, Stefano; Broxholme, John; Hudspith, Karl A Z; Kwasniewska, Alexandra; Davies, Wayne I L; Hankins, Mark W; Packham, Emily R; Clouston, Penny; Seller, Anneke; Wilkie, Andrew O M; Taylor, Jenny C; Ragoussis, Jiannis; Németh, Andrea H; Bowne, Sara J; Humphries, Marian M; Sullivan, Lori S; Kenna, Paul F; Tam, Lawrence CS; Kiang, Anna S; Campbell, Matthew; Weinstock, George M; Koboldt, Daniel C; Ding, Li; Fulton, Robert S; Sodergren, Erica J; Allman, Denis; Millington-Ward, Sophia; Palfi, Arpad; McKee, Alex; Blanton, Susan H; Slifer, Susan; Konidari, Ioanna; Farrar, G Jane; Daiger, Stephen P; Humphries, Peter; Lugtenberg, Dorien; Kleefstra, Tjitske; Oudakker, Astrid R; Nillesen, Willy M; Yntema, Helger G; Tzschach, Andreas; Raynaud, Martine; Rating, Dietz; Journel, Hubert; Chelly, Jamel; Goizet, Cyril; Lacombe, Didier; Pedespan, Jean-Michel; Echenne, Bernard; Tariverdian, Gholamali; O'Rourke, Declan; King, Mary D; Green, Andrew; van Kogelenberg, Margriet; Van Esch, Hilde; Gecz, Jozef; Hamel, Ben CJ; van Bokhoven, Hans; de Brouwer, Arjan PM; McNeill, Alisdair

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

TMT-based quantitative proteomic assessment of Vicia sativa induced neurotoxicity by β-cyano-L-alanine and γ-glutamyl-β-cyano-L-alanine in SH-SY5Y cells

基于TMT的定量蛋白质组学方法评估β-氰基-L-丙氨酸和γ-谷氨酰-β-氰基-L-丙氨酸对SH-SY5Y细胞神经毒性的影响

Riley, Samuel; Nguyen, Vy; Bhattacharjee, Rudrarup; Ng, Pei Qin; Ritchie, Tarin; Kamath, Karthik S; Fisk, Ian; Gecz, Jozef; Kumar, Raman; Searle, Iain R

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