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

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature

Townes-Brocks综合征:我们病例系列及文献中SALL1变异的基因型-表型相关性

Leduc, Fiona; Brunelle, Perrine; Escande, Fabienne; Ramdane, Nassima; Bellengier, Laurence; Giacomello, Léa; Lefevre, Christine; Mezel, Aurélie; Samaille, Charlotte; Sfeir, Rony; Toulemonde, Philippine; Manouvrier-Hanu, Sylvie; Vincent-Delorme, Catherine; Petit, Florence; Vanlerberghe, Clémence

Dissociation between Selecting and Orienting Attentional Reading Deficits: A Study in Adults with Epilepsy

选择性注意和定向性注意阅读缺陷的分离:一项针对癫痫成年患者的研究

Siéroff, Eric; Slama, Yael; Manouvrier, Jordane; Laurent, Agathe

Executive functioning in adolescents and adults with Silver-Russell syndrome

Silver-Russell综合征青少年和成人的执行功能

Burgevin, Mélissa; Lacroix, Agnès; Ollivier, Fanny; Bourdet, Karine; Coutant, Régis; Donadille, Bruno; Faivre, Laurence; Manouvrier-Hanu, Sylvie; Petit, Florence; Thauvin-Robinet, Christel; Toutain, Annick; Netchine, Irène; Odent, Sylvie

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

特纳综合征:法国国家诊断和护理方案(NDCP;国家诊断和护理方案)

Fiot, Elodie; Alauze, Bertille; Donadille, Bruno; Samara-Boustani, Dinane; Houang, Muriel; De Filippo, Gianpaolo; Bachelot, Anne; Delcour, Clemence; Beyler, Constance; Bois, Emilie; Bourrat, Emmanuelle; Bui Quoc, Emmanuel; Bourcigaux, Nathalie; Chaussain, Catherine; Cohen, Ariel; Cohen-Solal, Martine; Da Costa, Sabrina; Dossier, Claire; Ederhy, Stephane; Elmaleh, Monique; Iserin, Laurence; Lengliné, Hélène; Poujol-Robert, Armelle; Roulot, Dominique; Viala, Jerome; Albarel, Frederique; Bismuth, Elise; Bernard, Valérie; Bouvattier, Claire; Brac, Aude; Bretones, Patricia; Chabbert-Buffet, Nathalie; Chanson, Philippe; Coutant, Regis; de Warren, Marguerite; Demaret, Béatrice; Duranteau, Lise; Eustache, Florence; Gautheret, Lydie; Gelwane, Georges; Gourbesville, Claire; Grynberg, Mickaël; Gueniche, Karinne; Jorgensen, Carina; Kerlan, Veronique; Lebrun, Charlotte; Lefevre, Christine; Lorenzini, Françoise; Manouvrier, Sylvie; Pienkowski, Catherine; Reynaud, Rachel; Reznik, Yves; Siffroi, Jean-Pierre; Tabet, Anne-Claude; Tauber, Maithé; Vautier, Vanessa; Tauveron, Igor; Wambre, Sebastien; Zenaty, Delphine; Netchine, Irène; Polak, Michel; Touraine, Philippe; Carel, Jean-Claude; Christin-Maitre, Sophie; Léger, Juliane

Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity

识别具有指甲-髌骨综合征致病性的肢体特异性 Lmx1b 自身调节模块

Endika Haro, Florence Petit, Charmaine U Pira, Conor D Spady, Sara Lucas-Toca, Lauren I Yorozuya, Austin L Gray, Fabienne Escande, Anne-Sophie Jourdain, Andy Nguyen, Florence Fellmann, Jean-Marc Good, Christine Francannet, Sylvie Manouvrier-Hanu, Marian A Ros, Kerby C Oberg

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

CEMARA数据库在AnDDI-Rares网络中的10年:一个独特的资源,促进了法国发育障碍的研究和流行病学。

Messiaen, Claude; Racine, Caroline; Khatim, Ahlem; Soussand, Louis; Odent, Sylvie; Lacombe, Didier; Manouvrier, Sylvie; Edery, Patrick; Sigaudy, Sabine; Geneviève, David; Thauvin-Robinet, Christel; Pasquier, Laurent; Petit, Florence; Rossi, Massimiliano; Willems, Marjolaine; Attié-Bitach, Tania; Roux-Levy, Pierre-Henry; Demougeot, Laurent; Slama, Lilia Ben; Landais, Paul; Jannot, Anne-Sophie; Binquet, Christine; Sandrin, Arnaud; Verloes, Alain; Faivre, Laurence

Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants

全面的体内研究揭示了人类增强子变异的表型影响

Kvon, Evgeny Z; Zhu, Yiwen; Kelman, Guy; Novak, Catherine S; Plajzer-Frick, Ingrid; Kato, Momoe; Garvin, Tyler H; Pham, Quan; Harrington, Anne N; Hunter, Riana D; Godoy, Janeth; Meky, Eman M; Akiyama, Jennifer A; Afzal, Veena; Tran, Stella; Escande, Fabienne; Gilbert-Dussardier, Brigitte; Jean-Marçais, Nolwenn; Hudaiberdiev, Sanjarbek; Ovcharenko, Ivan; Dobbs, Matthew B; Gurnett, Christina A; Manouvrier-Hanu, Sylvie; Petit, Florence; Visel, Axel; Dickel, Diane E; Pennacchio, Len A

Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability

下颌-骨盆-髌骨综合征是一种新型的 PITX1 相关疾病,因 PITX1 转录激活能力发生改变而引起

Godelieve Morel, Céline Duhamel, Simon Boussion, Frédéric Frénois, Gaetan Lesca, Nicolas Chatron, Audrey Labalme, Damien Sanlaville, Patrick Edery, Julien Thevenon, Laurence Faivre, Alice Fassier, Olivier Prodhomme, Fabienne Escande, Sylvie Manouvrier, Florence Petit, David Geneviève, Massimiliano R

Searching for secondary findings: considering actionability and preserving the right not to know

寻找次要发现:考虑可操作性并保留不知情权

Isidor, Bertrand; Julia, Sophie; Saugier-Veber, Pascale; Weil-Dubuc, Paul-Loup; Bézieau, Stéphane; Bieth, Eric; Bonnefont, Jean-Paul; Munnich, Arnold; Bourdeaut, Franck; Bourgain, Catherine; Chassaing, Nicolas; Corradini, Nadège; Haye, Damien; Plaisancie, Julie; Dupin-Deguine, Delphine; Calvas, Patrick; Mignot, Cyril; Cogné, Benjamin; Manouvrier, Sylvie; Pasquier, Laurent; Héron, Delphine; Boycott, Kym M; Turrini, Mauro; Vears, Danya F; Nizon, Mathilde; Vincent, Marie