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

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

DDEL-22. Safety, feasibility, and preliminary efficacy of albumin-bound paclitaxel as monotherapy and in combination with carboplatin delivered by blood-brain barrier opening using a skull-implantable ultrasound: Preliminary results of a Phase I-II trial in recurrent glioblastoma

DDEL-22. 经颅内植入式超声打开血脑屏障递送白蛋白结合型紫杉醇单药治疗及联合卡铂治疗复发性胶质母细胞瘤的安全性、可行性及初步疗效:一项I/II期临床试验的初步结果

Evans, T W; Venning, M C; Strang, F A; Donnai, D; Caffo, M; Conte, L; Caruso, G; Ius, T; Sabatino, G; Gonzalo Garcia Moreira, C; Di Stefano, A L; Gaviani, P; Santonocito, O; Bruno, F; Olivi, A; Germanò, A F; Abbritti, R; Maccari, M; De Nunzio, G; Raffa, G; Somma, T; Cascio, D; Angileri, F F; Lombardi, G; Rudà, R; Silvani, A; M Sonabend, Adam; Lukas, Rimas V; Dixit, Karan; Kumthekar, Priya; Primdahl, Ditte; Tate, Matthew; Chandler, James; Magill, Stephen; Torres, Elena; VanderMolen, Sarah; Ward, Rachel; Nieves, Mariana; Pituch, Katarzyna; Bebawy, John; Zhang, Hui; Bazzi, Latifa; Habashy, Karl; Hervey-Jumper, Shawn; Butowski, Nicholas; Berger, Mitchell; Bouchoux, Guillaume; Canney, Michael; Desseaux, Carole; Carpentier, Alexandre; Stupp, Roger

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

对 EHMT1 变异体的全面分析拓宽了 Kleefstra 综合征的基因型-表型关联和分子机制。

Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J M; de Vries, Bert B A; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; van Beeck Calkoen, Rixje; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W E; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M; Bijlsma, Emilia K; Hakonen, Anna H; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L; Welling, Lindsey; Plomp, Astrid S; Vanhoutte, Els K; Kalsner, Louisa; Hol, Janna A; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, André; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Özcan, Kübra; Miot, Stéphanie; Volker-Touw, Catharina M L; van Gassen, Koen L I; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L; Muir, Alison M; Sadikovic, Bekim; Brunner, Han G; Vissers, Lisenka E L M; Shinkai, Yoichi; Kleefstra, Tjitske

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Robinow综合征的新型致病变异及定量表型分析:WNT信号通路扰动与表型变异

Zhang, Chaofan; Jolly, Angad; Shayota, Brian J; Mazzeu, Juliana F; Du, Haowei; Dawood, Moez; Soper, Patricia Celestino; Ramalho de Lima, Ariadne; Ferreira, Bárbara Merfort; Coban-Akdemir, Zeynep; White, Janson; Shears, Deborah; Thomson, Fraser Robert; Douglas, Sarah Louise; Wainwright, Andrew; Bailey, Kathryn; Wordsworth, Paul; Oldridge, Mike; Lester, Tracy; Calder, Alistair D; Dumic, Katja; Banka, Siddharth; Donnai, Dian; Jhangiani, Shalini N; Potocki, Lorraine; Chung, Wendy K; Mora, Sara; Northrup, Hope; Ashfaq, Myla; Rosenfeld, Jill A; Mason, Kati; Pollack, Lynda C; McConkie-Rosell, Allyn; Kelly, Wei; McDonald, Marie; Hauser, Natalie S; Leahy, Peter; Powell, Cynthia M; Boy, Raquel; Honjo, Rachel Sayuri; Kok, Fernando; Martelli, Lucia R; Filho, Vicente Odone; Genomics England Research Consortium; Muzny, Donna M; Gibbs, Richard A; Posey, Jennifer E; Liu, Pengfei; Lupski, James R; Sutton, V Reid; Carvalho, Claudia M B

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

AFF3降解子区域的变异与智力障碍、肢体中段发育不良、马蹄肾和癫痫性脑病相关。

Norine Voisin ,Rhonda E Schnur ,Sofia Douzgou ,Susan M Hiatt ,Cecilie F Rustad ,Natasha J Brown ,Dawn L Earl ,Boris Keren ,Olga Levchenko ,Sinje Geuer ,Sarah Verheyen ,Diana Johnson ,Yuri A Zarate ,Miroslava Hančárová ,David J Amor ,E Martina Bebin ,Jasmin Blatterer ,Alfredo Brusco ,Gerarda Cappuccio ,Joel Charrow ,Nicolas Chatron ,Gregory M Cooper ,Thomas Courtin ,Elena Dadali ,Julien Delafontaine ,Ennio Del Giudice ,Martine Doco ,Ganka Douglas ,Astrid Eisenkölbl ,Tara Funari ,Giuliana Giannuzzi ,Ursula Gruber-Sedlmayr ,Nicolas Guex ,Delphine Heron ,Øystein L Holla ,Anna C E Hurst ,Jane Juusola ,David Kronn ,Alexander Lavrov ,Crystle Lee ,Séverine Lorrain ,Else Merckoll ,Anna Mikhaleva ,Jennifer Norman ,Sylvain Pradervand ,Darina Prchalová ,Lindsay Rhodes ,Victoria R Sanders ,Zdeněk Sedláček ,Heidelis A Seebacher ,Elizabeth A Sellars ,Fabio Sirchia ,Toshiki Takenouchi ,Akemi J Tanaka ,Heidi Taska-Tench ,Elin Tønne ,Kristian Tveten ,Giuseppina Vitiello ,Markéta Vlčková ,Tomoko Uehara ,Caroline Nava ,Binnaz Yalcin ,Kenjiro Kosaki ,Dian Donnai ,Stefan Mundlos ,Nicola Brunetti-Pierri ,Wendy K Chung ,Alexandre Reymond

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

突变特异性的病理生理机制定义了与SATB1功能障碍相关的不同神经发育障碍。

den Hoed, Joery; de Boer, Elke; Voisin, Norine; Dingemans, Alexander J M; Guex, Nicolas; Wiel, Laurens; Nellaker, Christoffer; Amudhavalli, Shivarajan M; Banka, Siddharth; Bena, Frederique S; Ben-Zeev, Bruria; Bonagura, Vincent R; Bruel, Ange-Line; Brunet, Theresa; Brunner, Han G; Chew, Hui B; Chrast, Jacqueline; Cimbalistienė, Loreta; Coon, Hilary; Délot, Emmanuèlle C; Démurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Donnai, Dian; Dyment, David A; Elpeleg, Orly; Faivre, Laurence; Gilissen, Christian; Granger, Leslie; Haber, Benjamin; Hachiya, Yasuo; Abedi, Yasmin Hamzavi; Hanebeck, Jennifer; Hehir-Kwa, Jayne Y; Horist, Brooke; Itai, Toshiyuki; Jackson, Adam; Jewell, Rosalyn; Jones, Kelly L; Joss, Shelagh; Kashii, Hirofumi; Kato, Mitsuhiro; Kattentidt-Mouravieva, Anja A; Kok, Fernando; Kotzaeridou, Urania; Krishnamurthy, Vidya; Kučinskas, Vaidutis; Kuechler, Alma; Lavillaureix, Alinoë; Liu, Pengfei; Manwaring, Linda; Matsumoto, Naomichi; Mazel, Benoît; McWalter, Kirsty; Meiner, Vardiella; Mikati, Mohamad A; Miyatake, Satoko; Mizuguchi, Takeshi; Moey, Lip H; Mohammed, Shehla; Mor-Shaked, Hagar; Mountford, Hayley; Newbury-Ecob, Ruth; Odent, Sylvie; Orec, Laura; Osmond, Matthew; Palculict, Timothy B; Parker, Michael; Petersen, Andrea K; Pfundt, Rolph; Preikšaitienė, Eglė; Radtke, Kelly; Ranza, Emmanuelle; Rosenfeld, Jill A; Santiago-Sim, Teresa; Schwager, Caitlin; Sinnema, Margje; Snijders Blok, Lot; Spillmann, Rebecca C; Stegmann, Alexander P A; Thiffault, Isabelle; Tran, Linh; Vaknin-Dembinsky, Adi; Vedovato-Dos-Santos, Juliana H; Schrier Vergano, Samantha A; Vilain, Eric; Vitobello, Antonio; Wagner, Matias; Waheeb, Androu; Willing, Marcia; Zuccarelli, Britton; Kini, Usha; Newbury, Dianne F; Kleefstra, Tjitske; Reymond, Alexandre; Fisher, Simon E; Vissers, Lisenka E L M

Specialist oncological surgery for removal of the ovaries and fallopian tubes in BRCA1 and BRCA2 pathogenic variant carriers may reduce primary peritoneal cancer risk to very low levels

对于携带 BRCA1 和 BRCA2 致病性变异的患者,通过肿瘤专科手术切除卵巢和输卵管,可将原发性腹膜癌的风险降低至极低水平。

Crosbie, Emma J; Flaum, Nicola; Harkness, Elaine F; Clayton, Richard D; Holland, Cathrine; Martin-Hirsch, Pierre; Wood, Nick; Keating, Patrick; Woodward, Emma R; Lalloo, Fiona; Donnai, Paul; Edmondson, Richard J; Evans, D Gareth

The rise of point-of-care genetics: how the SARS-CoV-2 pandemic will accelerate adoption of genetic testing in the acute setting

即时基因检测的兴起:SARS-CoV-2 大流行将如何加速在急性病房中采用基因检测。

McDermott, John H; Burn, John; Donnai, Dian; Newman, William G

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

THOC2 mRNA 核输出因子变异导致临床表现不断扩展

Raman Kumar ,Elizabeth Palmer ,Alison E Gardner ,Renee Carroll ,Siddharth Banka ,Ola Abdelhadi ,Dian Donnai ,Ype Elgersma ,Cynthia J Curry ,Alice Gardham ,Mohnish Suri ,Rishikesh Malla ,Lauren Ilana Brady ,Mark Tarnopolsky ,Dimitar N Azmanov ,Vanessa Atkinson ,Michael Black ,Gareth Baynam ,Lauren Dreyer ,Robin Z Hayeems ,Christian R Marshall ,Gregory Costain ,Marja W Wessels ,Julia Baptista ,James Drummond ,Melanie Leffler ,Michael Field ,Jozef Gecz

Parapharyngeal abscess and vocal cord palsy caused by minor salivary gland sialadenitis: an atypical presentation treated using an endoscopic surgical approach

由小唾液腺炎引起的咽旁脓肿和声带麻痹:一种非典型表现,采用内镜手术治疗

Kumar, R; Thomas, C; Darr, A; Donnai, M