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

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders

剪接因子基因SF3B1的新生变异与神经发育障碍相关。

Uguen, Kevin; Bergot, Tiffany; Scott-Boyer, Marie-Pier; Chapalain, Solène; Desdouets, Camille; Commet, Séverine; Zhu, Changlian; Xu, Yiran; Wang, Yangong; Roscioli, Tony; Tran-Mau-Them, Frederic; Faivre, Laurence; Maraval, Julien; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Jost, Céline; Planes, Marc; Hiatt, Susan; Wheeler, Patricia; Gonzaga-Jauregui, Claudia; Wang, Heng; Xin, Baozhong; Sency, Valerie; Kruer, Michael C; Bakhtiari, Somayeh; Sulem, Patrick; Curry, Cynthia; Prescott, Trine; Strobl-Wildemann, Gertrud; Brunet, Theresa; Doco Fenzy, Martine; Courtin, Thomas; Poirsier, Céline; Bjørg Hammer, Trine; Fenger, Christina D; MacPherson, Melissa; Izumi, Kosuke; Leonard, Jacqueline; Li, Dong; Zackai, Elaine H; Glass, Ian A; Ward, Scott; Campeau, Philippe M; Borroto, Maria Carla Hermida; Le Moigno, Laurence; Van Esch, Hilde; De Waele, Liesbeth; Calame, Daniel G; Lupski, James R; Barcia, Giulia; Peduto, Cristina; Planté-Bordeneuve, Pauline; Dupuis, Lucie; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J; Gillibert-Duplantier, Jennifer; Besnard, Thomas; Do Souto Ferreira, Laura; Cogné, Benjamin; Bézieau, Stéphane; Droit, Arnaud; Corcos, Laurent; Lippert, Eric; Férec, Claude; Küry, Sebastien; Bernard, Delphine G

MON-663 Impact of Triglyceride Chain-Length on Ketogenesis and Muscle Weakness in Critically Ill Mice

MON-663 甘油三酯链长对危重小鼠酮体生成和肌肉无力的影响

Van Rossum, Thea; Haiß, Annette; Knoll, Rebecca L; Marißen, Janina; Podlesny, Daniel; Pagel, Julia; Bleskina, Marina; Vens, Maren; Fortmann, Ingmar; Siller, Bastian; Ricklefs, Isabell; Klopp, Jonas; Hilbert, Katja; Meyer, Claudius; Thielemann, Roman; Goedicke-Fritz, Sybelle; Kuntz, Martin; Wieg, Christian; Teig, Norbert; Körner, Thorsten; Kribs, Angela; Hudalla, Hannes; Knuf, Markus; Stein, Anja; Gille, Christian; Bagci, Soyhan; Dohle, Frank; Proquitté, Hans; Olbertz, Dirk M; Schmidt, Esther; Koch, Lutz; Pirr, Sabine; Rupp, Jan; Spiegler, Juliane; Kopp, Matthias V; Göpel, Wolfgang; Herting, Egbert; Forslund, Sofia K; Viemann, Dorothee; Zemlin, Michael; Bork, Peer; Gehring, Stephan; König, Inke R; Henneke, Philipp; Härtel, Christoph; Bancos, Irina; Ben-Shlomo, Anat; Hamidi, Oksana; Hamrahian, Amir; Huang, Wenyu; Kirschner, Lawrence S; Sam, Ramin; Turcu, Adina F; Lihn, Aina Sætre; Mallappa, Ashwini; Perl, Shira; Tuyishimire, Bonifride; Brown, Morris J; Ali, Dalal S; Chung, Zinnia; Kamel, Loay; Björnsdottir, Sigridur; Clarke, Bart L; Gittoes, Neil John; Hahner, Stephanie; Hofbauer, Lorenz C; Houillier, Pascal; Ing, Steven Wai; Levine, Michael A; Mannstadt, Michael; Rejnmark, Lars; Shoback, Dolores M; Brandi, Maria Luisa; Khan, Aliya Aziz; Ahmad, Arshad; Basu, Reetobrata; Kopchick, John Joseph; Leong, Ashley; Chen, Suet Ching; Alimussina, Malika; Bryce, Jillian; Chen, Minglu; Fu, Antony; Gevers, Evelien F; Hoybye, Charlotte; Hughes, Marguerite; Iotova, Violeta; Jalaludin, Muhammad Yazid; Kerkhof, Gerthe F; Luo, Fei Hong; Miller, Jennifer; Nyunt, Ohn; Roche, Edna F; Guftar Shaikh, M; Strong, Theresa; Tauber, Maithe; Tyszler, Latife Salomão; Ahmed, Syed Faisal; Dischinger, Ulrich; Al-Karadsheh, Amer; Badiu, Corin; Ceccato, Filippo; East, Honey; Gilis-Januszewska, Aleksandra; Hamidi, Oksana; Hamrahian, Amir H; Hannoush, Zeina C; Kautzky-Willer, Alexandra; Mangas-Cruz, Miguel Ángel; Niculescu, Dan A; Parker, John C; Pivonello, Rosario; Ranetti, Aurelian-Emil; Rovner, Sergio; Shlomai, Gadi; Stigliano, Antonio; Terzolo, Massimo; Tinahones Madueño, Francisco José; Kesner-Hays, Amanda; Hand, Austin L; Araque, Katherine A; Moraitis, Andreas G; Zawadzka, Karolina; Calissendorff, Jan; Rzepka, Ewelina; Pędziwiatr, Michał; Hubalewska-Dydejczyk, Alicja; Falhammar, Henrik; Korbonits, Marta; Wang, Xian; Barry, Sayka; Suleyman, Oniz; Tito Stefano, De; Uddin, Nazia; Louise Hall, Charlotte; Laura, Perna; Chapple, Paul; Sian, Henson; Morales, Valle; Bianchi, Katiuscia; Duchen, Michael; Patel, Sandip; Aksoy, Ezra; Czibik, Gabor; Borovikov, Artem; Björnsson, HansTómas; Van Esch, Hilde; Tooze, Sharon; Brennan, Caroline; Haworth, Oliver; Zavros, Yana; Little, Andrew S; Santagata, Sandro; Wells, James M; Mayhew, Chris; Kim, Albert H; Zada, Gabriel; Chakrabarti, Jayati; Eschbacher, Jennifer M; Ji Yuen, Kevin Choong; Evans, James J; Pacione, Donato R; Pandey, Ritu; Mochel, Jonathan P; Allenspach, Karin; Jordan, Gretchen; Robèrt, Jonas; Tsatsaris, Erika; Berinder, Katarina; Bonelli, Lorenza; Burman, Pia; Dahlqvist, Per; Hoybye, Charlotte; Ragnarsson, Oskar; Vouzouneraki, Konstantina; Åkerman, Anna-Karin; Eden Engström, Britt; Ekman, Bertil; Bashir, Badra; Benencia, Fabian; Ortiz, Silvana Duran; Brown, Farrah; List, Edward Owen; Kopchick, John Joseph; Berryman, Darlene E; Jacobs, An; Del Hoyo, Laura; Todisco, Tommaso; Salamin, Olivier; Fortea, Juan; Pitteloud, Nelly; Dobri, Georgiana A; Arnaldi, Giorgio; Auchus, Richard J; Badiu, Corin; Fazeli, Pouneh K; Feelders, Richard A; Hannoush, Zeina C; Kautzky-Willer, Alexandra; Miller, Harold J; Niculescu, Dan A; Pivonello, Rosario; Ranetti, Aurelian-Emil; Recasens, Mónica; Reincke, Martin; Silverstein, Julie; Stigliano, Antonio; Hand, Austin L; Kesner-Hays, Amanda; Araque, Katherine A; Moraitis, Andreas; Lauwers, Caroline; Gunst, Jan; Derde, Sarah; Derese, Inge; Perre, Sarah Vander; Pauwels, Lies; El Dawy, Soraya; Van Den Berghe, Greet H; Casaer, Michael P; Langouche, Lies

Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells

基于长读长全基因组测序的单细胞单倍型分析和非整倍体分析

Zhao, Yan; Tsuiko, Olga; Jatsenko, Tatjana; Peeters, Greet; Souche, Erika; Geysens, Mathilde; Dimitriadou, Eftychia; Vanhie, Arne; Peeraer, Karen; Debrock, Sophie; Van Esch, Hilde; Vermeesch, Joris Robert

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders

长读长测序技术在发育障碍中表观遗传特征检测的临床评估

Geysens, Mathilde; Huremagic, Benjamin; Souche, Erika; Breckpot, Jeroen; Devriendt, Koenraad; Peeters, Hilde; Van Buggenhout, Griet; Van Esch, Hilde; Van Den Bogaert, Kris; Vermeesch, Joris Robert

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

UGGT1 双等位基因变异会导致先天性糖基化障碍

Dardas Zain, Harrold Laura, Calame Daniel G, Salter Claire G, Kikuma Takashi, Guay Kevin P, Ng Bobby G, Sano Kanae, Saad Ahmad K, Du Haowei, Sangermano Riccardo, Patankar Sohil G, Jhangiani Shalini N, Gürsoy Semra, Abdel-Hamid Mohamed S, Ahmed Mahmoud K H, Maroofian Reza, Kaiyrzhanov Rauan, Salayev Kamran, Jones Wendy D, Pérez Caballero Ana, McGavin Lucy, Spiller Michael, Durkie Miranda, Wood Nick, O'Grady Lauren, Goldenberg Paula, Neumeyer Ann M, Begtrup Amber, Abdel-Ghafar Sherif F, Zaki Maha S, Van Esch Hilde, Posey Jennifer E, Wenger Olivia K, Scott Ethan M, Bujakowska Kinga M, Gibbs Richard A, Pehlivan Davut, Marafi Dana, Leslie Joseph S, Ubeyratna Nishanka, Day Jacob, Owens Martina, Settle Jessica, Balkhy Soher, Tamim Abdullah, Alabdi Lama, Alkuraya Fowzan S, Takeda Yoichi, Freeze Hudson H, Hebert Daniel N, Lupski James R, Crosby Andrew H, Baple Emma L

Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome

多种旁系同源基因和重组机制导致22q11.2缺失综合征的高发病率。

Vervoort, Lisanne; Dierckxsens, Nicolas; Sousa Santos, Marta; Meynants, Senne; Souche, Erika; Cools, Ruben; Heung, Tracy; Devriendt, Koen; Peeters, Hilde; McDonald-McGinn, Donna M; Swillen, Ann; Breckpot, Jeroen; Emanuel, Beverly S; Van Esch, Hilde; Bassett, Anne S; Vermeesch, Joris R

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

Tracing neuropathological signatures: TARDBP and C9orf72 double mutations in a Sicilian family

追踪神经病理学特征:西西里家族中的TARDBP和C9orf72双突变

Masrori, Pegah; Tomé, Sandra O; Dedeene, Lieselot; Remiche, Gauthier; Van Esch, Hilde; Thal, Dietmar Rudolf; Van Damme, Philip

PSIV-22 Genome-wide association studies for binary traits: A comparison of methods

PSIV-22 二元性状的全基因组关联研究:方法比较

Niaré, Karamoko; Crudale, Rebecca; Fola, Abebe A; Wernsman Young, Neeva; Asua, Victor; Conrad, Melissa; Gashema, Pierre; Ghansah, Anita; Hangi, Stan; Ishengoma, Deus S; Mazarati, Jean-Baptiste; Zeleke, Ayalew Jejaw; Rosenthal, Philip J; Djimdé, Abdoulaye A; Juliano, Jonathan J; Bailey, Jeffrey A; Roza Machado, Iza Franklin; Tinano, Flavia Rezende; Machado Canton, Ana Pinheiro; Gomes, Larissa Garcia; Smith, Jennifer A; Abu‐Amara, Hasan; Zhao, Wei; Li, Zheng; Leung, Yuk Yee; Schellenberg, Gerald D; Wang, Li‐San; Moorjani, Priya; Crimmins, Eileen M; Thyagarajan, Bharat; Anwar, Masroor; Hu, Peifeng; Dey, Sharmistha; Dey, Aparajit Ballav; Zhou, Xiang; Thangaraj, Kumarasamy; Lee, Jinkook; Kardia, Sharon L R; Korbonits, Marta; Wang, Xian; Barry, Sayka; Suleyman, Oniz; Tito Stefano, De; Uddin, Nazia; Louise Hall, Charlotte; Laura, Perna; Chapple, Paul; Sian, Henson; Morales, Valle; Bianchi, Katiuscia; Duchen, Michael; Patel, Sandip; Aksoy, Ezra; Czibik, Gabor; Borovikov, Artem; Björnsson, HansTómas; Van Esch, Hilde; Tooze, Sharon; Brennan, Caroline; Haworth, Oliver; Wong, Yuen Yan; Wu, Che‐Yuan; Mori‐Fegan, Daniel K; Noor, Shiropa; Xiong, Lisa Y; Ryoo, Si Won; Ruthirakuhan, Myuri; Mirza, Saira S; Masellis, Mario; Rogaeva, Ekaterina; Amemiya, Yutaka; Seth, Arun; Ramirez, Joel; Scott, Christopher JM; Gao, Fuqiang; Symons, Sean; Heyn, Chinthaka Chris; Lam, Benjamin; Zukotynski, Katherine; Bhan, Aparna; Swartz, Richard H; Sahlas, Demetrios J; Goubran, Maged; Keith, Julia; Bennett, David A A; Black, Sandra E; Chenoweth, Meghan J; Swardfager, Walter; Campos, Milena; Costa, Raphael Bermal; Mulim, Henrique A; Camargo, Gregorio; de Oliveira, Hinayah Rojas

Genomic findings with familial implications: agenda setting in light of mainstreaming

具有家族意义的基因组学发现:主流化背景下的议程设置

Phillips, Amicia; Van Steijvoort, Eva; Siermann, Maria; Kuiper, Janneke M L; Mendes, Álvaro; de Montgolfier, Sandrine; Vendel Petersen, Helle; Rosén, Anna; Van Esch, Hilde; Pasquier, Laurent; Vears, Danya F; Patch, Christine; Van Hoof, Wannes; Newson, Ainsley J; Bulk, Saskia; van El, Carla; Dancet, Eline; Rial-Sebbag, Emmanuelle; Mitchell, Colin; Borry, Pascal