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

Aptamer‐Based Approaches for Influenza Virus Detection: A Systematic Review

基于适配体的流感病毒检测方法:系统综述

Barak, Sharon; Anikster, Yair; Sarouk, Ifat; Stern, Eve; Eisenstein, Etzyona; Yissar, Tamar; Sherr-Lurie, Nir; Raas-Rothschild, Annick; Guttman, Dafna; Charostad, Javad; Ghoreshi, Zohreh‐al‐sadat; Arefinia, Nasir; Salajegheh, Faranak; Farsiu, Niloofar; Rezaei Zadeh Rukerd, Mohammad; Nakhaie, Mohsen

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

GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses

与智力障碍和痉挛性截瘫相关的GRID1/GluD1纯合变异会损害mGlu1/5受体信号传导和兴奋性突触。

Ung, Dévina C; Pietrancosta, Nicolas; Badillo, Elena Baz; Raux, Brigitt; Tapken, Daniel; Zlatanovic, Andjela; Doridant, Adrien; Pode-Shakked, Ben; Raas-Rothschild, Annick; Elpeleg, Orly; Abu-Libdeh, Bassam; Hamed, Nasrin; Papon, Marie-Amélie; Marouillat, Sylviane; Thépault, Rose-Anne; Stevanin, Giovanni; Elegheert, Jonathan; Letellier, Mathieu; Hollmann, Michael; Lambolez, Bertrand; Tricoire, Ludovic; Toutain, Annick; Hepp, Régine; Laumonnier, Frédéric

Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

作者更正:SART3基因变异会导致剪接体病,其特征是睾丸发育不全和神经元缺陷。

Ayers, Katie L; Eggers, Stefanie; Rollo, Ben N; Smith, Katherine R; Davidson, Nadia M; Siddall, Nicole A; Zhao, Liang; Bowles, Josephine; Weiss, Karin; Zanni, Ginevra; Burglen, Lydie; Ben-Shachar, Shay; Rosensaft, Jenny; Raas-Rothschild, Annick; Jørgensen, Anne; Schittenhelm, Ralf B; Huang, Cheng; Robevska, Gorjana; van den Bergen, Jocelyn; Casagranda, Franca; Cyza, Justyna; Pachernegg, Svenja; Wright, David K; Bahlo, Melanie; Oshlack, Alicia; O'Brien, Terrence J; Kwan, Patrick; Koopman, Peter; Hime, Gary R; Girard, Nadine; Hoffmann, Chen; Shilon, Yuval; Zung, Amnon; Bertini, Enrico; Milh, Mathieu; Ben Rhouma, Bochra; Belguith, Neila; Bashamboo, Anu; McElreavey, Kenneth; Banne, Ehud; Weintrob, Naomi; BenZeev, Bruria; Sinclair, Andrew H

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

SART3 变异会导致剪接体病,其特征是睾丸发育失败和神经元缺陷

Katie L Ayers, Stefanie Eggers, Ben N Rollo, Katherine R Smith, Nadia M Davidson, Nicole A Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B Schittenhelm, Cheng Huang, Gorjana Robevska, 

Cross-sectional Observations on the Natural History of Mucolipidosis Type IV

粘脂沉积症IV型自然史的横断面观察

Misko, Albert L; Wood, Levi B; DeBono, Madeline; Oberman, Rebecca; Raas-Rothschild, Annick; Grishchuk, Yulia; Eichler, Florian

Vici syndrome in Israel: Clinical and molecular insights

以色列的维奇综合征:临床和分子见解

Chorin, Odelia; Hirsch, Yoel; Rock, Rachel; Salzer Sheelo, Liat; Goldberg, Yael; Mandel, Hanna; Hershkovitz, Tova; Fleischer, Nicole; Greenbaum, Lior; Katz, Uriel; Barel, Ortal; Hamed, Nasrin; Ben-Zeev, Bruria; Greenberger, Shoshana; Nasser Samra, Nadra; Stern Zimmer, Michal; Raas-Rothschild, Annick; Pode-Shakked, Ben

Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders

外显子组测序在普通儿科病房中对疑似遗传疾病住院儿童的临床意义

Kagan, Maayan; Semo-Oz, Rotem; Ben Moshe, Yishay; Atias-Varon, Danit; Tirosh, Irit; Stern-Zimmer, Michal; Eliyahu, Aviva; Raas-Rothschild, Annick; Bivas, Maayan; Shlomovitz, Omer; Chorin, Odelia; Rock, Rachel; Tzadok, Michal; Ben-Zeev, Bruria; Heimer, Gali; Bolkier, Yoav; Gruber, Noah; Dagan, Adi; Bar Aluma, Bat El; Pessach, Itai M; Rechavi, Gideon; Barel, Ortal; Pode-Shakked, Ben; Anikster, Yair; Vivante, Asaf

What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?

我们能从以色列患有 III-A 型粘多糖贮积症的儿童的父母身上学到什么?

Liber, Shiri; Staretz-Chacham, Orna; Kishon, Mor; Pode-Shakked, Ben; Chorin, Odelia; Kneller, Katya; Anikster, Yair; Mangisto, Geto; Saada, Ann; Raas-Rothschild, Annick

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

进一步阐明与BCAP31相关的智力障碍:描述17个携带功能缺失和错义变异的新家族

Whalen, Sandra; Shaw, Marie; Mignot, Cyril; Héron, Delphine; Bastaraud, Sandra Chantot; Walti, Cecile Cieuta; Liebelt, Jan; Elmslie, Frances; Yap, Patrick; Hurst, Jane; Forsythe, Elisabeth; Kirmse, Brian; Ozmore, Jillian; Spinelli, Alessandro Mauro; Calabrese, Olga; de Villemeur, Thierry Billette; Tabet, Anne Claude; Levy, Jonathan; Guet, Agnes; Kossorotoff, Manoëlle; Kamien, Benjamin; Morton, Jenny; McCabe, Anne; Brischoux-Boucher, Elise; Raas-Rothschild, Annick; Pini, Antonella; Carroll, Renée; Hartley, Jessica N; Frosk, Patrick; Slavotinek, Anne; Truxal, Kristen; Jennifer, Carroll; Dheedene, Annelies; Cui, Hong; Kumar, Vishal; Thomson, Glen; Riccardi, Florence; Gecz, Jozef; Villard, Laurent