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

Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms

新型KIF22变体破坏人类软骨细胞有丝分裂并扩展SEMDJL2机制

Šemić, Amila; Chan, Kazette Yuen Yu; Bernardi, Pricila; Silveira, Karina C; Silveira, Cynthia; Cavalcanti, Denise P; Kannu, Peter; Stumpff, Jason

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

关于“CERT1突变通过破坏鞘脂稳态扰乱人类发育”一文的更正

Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Tran Mau-Them, Frederic; Maddocks, Alexis Br; Bain, Jennifer M; Bhat, Musadiq A; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L; Friez, Michael J; Richardson, Ellen B; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Gupta, Yask; Lim, Tze Y; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E; Jakšić, Ana Marija; McCabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder

HECTD1基因序列变异会导致不同的神经发育障碍

Zerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D; Ruiz, Anna; Manso-Basúz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L; Vilain, Eric; Arnadottir, Gudny A; Sulem, Patrick; Sulem, Telma S; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M; Valentine, Rozalia; Trowbridge, Sara K; Murali, Chaya N; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D; Keppler-Noreuil, Kim M; Hall, April L; McGivern, Bobbi; Monaghan, Kristin G; Guillen Sacoto, Maria J; Baldridge, Dustin; Silverman, Gary A; Dahiya, Sonika; Turner, Tychele N; Schedl, Tim; Corbin, Joshua G; Pak, Stephen C; Zohn, Irene E; Gurnett, Christina A

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

Multigenerational genetic inheritance and clinical characteristics of the rare disease hypophosphatasia in 6 families: A case series

6个家族中罕见病低磷酸酯酶症的多代遗传及临床特征:病例系列研究

Kannu, Peter; Khan, Aliya A; Francis, Mira; Adachi, Jonathan D

Corrigendum to "Multigenerational genetic inheritance and clinical characteristics of the rare disease hypophosphatasia in 6 families: A case series" [Bone Rep. 26 (2025) 1-6 (101857)]

对“6个家族中罕见病低磷酸酯酶症的多代遗传和临床特征:病例系列”的更正[Bone Rep. 26 (2025) 1-6 (101857)]

Kannu, Peter; Khan, Aliya A; Francis, Mira; Adachi, Jonathan D

Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria

如果基因检测未能确诊马凡综合征,则应考虑经典型同型半胱氨酸尿症:经典型同型半胱氨酸尿症成年兄弟姐妹的诊断延迟和表型变异

Sultan, Randa; Urlacher, Jordan; Athey, Taryn; Kannu, Peter; Seres, Peter; Mercimek-Andrews, Saadet

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER

多聚(RC)结合蛋白基因PCBP1的从头突变会导致神经发育障碍

Deb, Wallid; Besnard, Thomas; Desprez, Florence; Cogné, Benjamin; Do Souto Ferreira, Laura; Vignard, Virginie; Marouillat, Sylviane; Januel, Louis; Gorokhova, Svetlana; Busa, Tiffany; Morel, Victor; Dauriat, Benjamin; Desportes, Vincent; Slavotinek, Anne M; An, Yu; Lee, Hane; Hary, Jessy; Kannu, Peter; Athey, Taryn B; van de Laar, Ingrid M B H; van Slegtenhorst, Marjon A; Dickson, Patricia; Muir, Alison M; Buchert, Rebecca; Haack, Tobias B; Imort, Dominic; Sousa, Sérgio B; Xavier, Belinda; Almeida, Pedro M; Rogac, Mihael; Peterlin, Borut; Kaspar, Sophie; Netzer, Christian; Zempel, Hans; Towne, Meghan C; Ladda, Roger L; Sell, Susan S; Gawlinski, Pawel; Song, Xiaofei; Wiszniewski, Wojciech; Calame, Daniel G; Posey, Jennifer E; Ebstein, Frederic; Lupski, James R; Isidor, Bertrand; Bézieau, Stéphane; Laumonnier, Frédéric; Küry, Sébastien

Medicare Coverage and Patient Out-of-Pocket Costs for Cardiovascular-Kidney-Metabolic Medications

医疗保险对心血管-肾脏-代谢药物的覆盖范围和患者自付费用

Young, Grant M; Bansal, Kannu; Riello, Ralph J 3rd; Clark, Katherine A A; Dhruva, Sanket S; Faridi, Kamil F; Desai, Nihar R

Direct Reprogramming of Fibroblasts to Osteoblasts: Techniques and Methodologies

成纤维细胞直接重编程为成骨细胞:技术和方法

Fallah, Asghar; Beke, Alexander; Oborn, Connor; Soltys, Carrie-Lynn; Kannu, Peter