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

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

PRMT9基因双等位基因功能缺失变异会导致一种综合征型智力障碍。

Kröll-Hermi, Ariane; Stoetzel, Corinne; Etard, Christelle; Halabelian, Levon; Schaefer, Elise; Scheidecker, Sophie; Kahrizi, Kimia; Payman, Jamali; Geoffroy, Véronique; Prasad, Megana; Obringer, Cathy; Ruch, Laurie; Girard, Amandine; Zeng, Hong; Li, Fengling; Plassard, Damien; Keime, Céline; Mattioli, Francesca; Feger, Claire; Piton, Amélie; Fujita, Atsushi; Matsumoto, Naomichi; Castro, Matheus Augusto Araujo; Ae, Kim Chong; Ruaud, Lyse; Levy, Jonathan; Dozières, Blandine; Tabet, Anne-Claude; Wentzensen, Ingrid M; Santiago-Sim, Teresa; Yusupov, Roman; Tveten, Kristian; Smeland, Marie Falkenberg; Alkhunaizi, Ebba; Cowing, Gina; Li, Chumei; Wortmann, Saskia B; Feichtinger, René G; Mayr, Johannes A; Gonorazky, Herman; Jing, Gan; Wang, Xiaodong; Wang, Jia; Bierhals, Tatjana; Grinstein, Lev; Herget, Theresia; Ruiz, Anna; Gabau, Elisabeth; Kampmeier, Antje; Kassel, Olivier; Kuechler, Alma; Platzer, Konrad; Jamra, Rami Abou; Woerner, Audrey; Idleburg, Michaela; Kircher, Susanne Gerit; Laccone, Franco; Golob, Barbara; Peterlin, Borut; Čuturilo, Goran; Tasic, Velibor; Kolvenbach, Caroline M; Hildebrandt, Friedhelm; Ramos, Luiza L P; Kok, Fernando; Buck, Cecilia Barbosa; van de Laar, Ingrid M B H; de Man, Stella A; Taşdelen, Elifcan; Sezer, Abdullah; Büke, Afife; Yavuz, Zehra; Çomoğlu, Selim Selçuk; Costin, Carrie; Tran Mau Them, Frédéric; Lacaze, Elodie; Courtin, Thomas; Héron, Delphine; Keren, Boris; Whalen, Sandra; Roume, Joelle; Yang, Yanzhong; Hoffer, Mariëtte J V; van Haeringen, Arie; Najmabadi, Hossein; Arrowsmith, Cheryl H; Strähle, Uwe; Dollfus, Hélène; Muller, Jean

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

ARID2相关疾病:进一步阐明27例新患者的临床表型并描述其表观遗传特征

Houdayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Céline; Alders, Mariëlle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogné, Benjamin; Cormier-Daire, Valérie; Delanne, Julian; Demaret, Tanguy; Denommé-Pichon, Anne-Sophie; Désir, Julie; Dubourg, Christèle; Fradin, Mélanie; Geneviève, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W; Guichet, Agnès; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A; McConkey, Haley; Mendelsohn, Bryce A; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clément; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W E; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frédéric Tran; Trost, Detlef; Van der Sluijs, Pleuntje J; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle

Developing an initial explanatory theory for Partnering for Change using realist evaluation

运用现实主义评估方法,为“携手变革”构建初步解释理论

VanderKaay, Sandra; Missiuna, Cheryl; Bennett, Sheila; Whalen, Sandra Sahagian; Dix, Leah; Camden, Chantal; Kennedy, Jennifer; Campbell, Wenonah

Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling

有害的ZNRF3种系变异通过对Wnt/β-catenin信号通路的特定结构域影响,导致具有镜像脑表型的神经发育障碍。

Boonsawat, Paranchai; Asadollahi, Reza; Niedrist, Dunja; Steindl, Katharina; Begemann, Anaïs; Joset, Pascal; Bhoj, Elizabeth J; Li, Dong; Zackai, Elaine; Vetro, Annalisa; Barba, Carmen; Guerrini, Renzo; Whalen, Sandra; Keren, Boris; Khan, Amjad; Jing, Duan; Palomares Bralo, María; Rikeros Orozco, Emi; Hao, Qin; Schlott Kristiansen, Britta; Zheng, Bixia; Donnelly, Deirdre; Clowes, Virginia; Zweier, Markus; Papik, Michael; Siegel, Gabriele; Sabatino, Valeria; Mocera, Martina; Horn, Anselm H C; Sticht, Heinrich; Rauch, Anita

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)

人们获取ES次要研究结果的期望、需求和中期结果:法国第一项混合研究(FIND研究)

Viora-Dupont, Eléonore; Robert, Françoise; Chassagne, Aline; Pélissier, Aurore; Staraci, Stéphanie; Sanlaville, Damien; Edery, Patrick; Lesca, Gaetan; Putoux, Audrey; Pons, Linda; Cadenes, Amandine; Baurand, Amandine; Sawka, Caroline; Bertolone, Geoffrey; Spetchian, Myrtille; Yousfi, Meriem; Salvi, Dominique; Gautier, Elodie; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Bruel, Ange-Line; Tran Mau-Them, Frédéric; Faudet, Anne; Keren, Boris; Labalme, Audrey; Chatron, Nicolas; Abel, Carine; Dupuis-Girod, Sophie; Poisson, Alice; Buratti, Julien; Mignot, Cyril; Afenjar, Alexandra; Whalen, Sandra; Charles, Perrine; Heide, Solveig; Mouthon, Linda; Moutton, Sébastien; Sorlin, Arthur; Nambot, Sophie; Briffaut, Anne-Sophie; Asensio, Marie-Laure; Philippe, Christophe; Thauvin-Robinet, Christel; Héron, Delphine; Rossi, Massimiliano; Meunier-Bellard, Nicolas; Gargiulo, Marcela; Peyron, Christine; Binquet, Christine; Faivre, Laurence

GGPS1-associated muscular dystrophy with and without hearing loss

GGPS1相关性肌营养不良症伴或不伴听力丧失

Kaiyrzhanov, Rauan; Perry, Luke; Rocca, Clarissa; Zaki, Maha S; Hosny, Heba; Araujo Martins Moreno, Cristiane; Phadke, Rahul; Zaharieva, Irina; Camelo Gontijo, Clara; Beetz, Christian; Pini, Veronica; Movahedinia, Mojtaba; Zanoteli, Edmar; DiTroia, Stephanie; Vuillaumier-Barrot, Sandrine; Isapof, Arnaud; Mehrjardi, Mohammad Yahya Vahidi; Ghasemi, Nasrin; Sarkozy, Anna; Muntoni, Francesco; Whalen, Sandra; Vona, Barbara; Houlden, Henry; Maroofian, Reza

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

未确诊先天性多发性关节挛缩症的表型谱和基因组学

Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jérome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; Bouligand, Jerome; Héron, Delphine; Viot, Géraldine; Amiel, Jeanne; Amram, Daniel; Bellesme, Céline; Bucourt, Martine; Faivre, Laurence; Jouk, Pierre-Simon; Khung, Suonavy; Sigaudy, Sabine; Delezoide, Anne-Lise; Goldenberg, Alice; Jacquemont, Marie-Line; Lambert, Laetitia; Layet, Valérie; Lyonnet, Stanislas; Munnich, Arnold; Van Maldergem, Lionel; Piard, Juliette; Guimiot, Fabien; Landrieu, Pierre; Letard, Pascaline; Pelluard, Fanny; Perrin, Laurence; Saint-Frison, Marie-Hélène; Topaloglu, Haluk; Trestard, Laetitia; Vincent-Delorme, Catherine; Amthor, Helge; Barnerias, Christine; Benachi, Alexandra; Bieth, Eric; Boucher, Elise; Cormier-Daire, Valerie; Delahaye-Duriez, Andrée; Desguerre, Isabelle; Eymard, Bruno; Francannet, Christine; Grotto, Sarah; Lacombe, Didier; Laffargue, Fanny; Legendre, Marine; Martin-Coignard, Dominique; Mégarbané, André; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quélin, Chloé; Ranjatoelina-Randrianaivo, Hanitra; Resta, Nicoletta; Toutain, Annick; Verhelst, Helene; Vincent, Marie; Colin, Estelle; Fallet-Bianco, Catherine; Granier, Michèle; Grigorescu, Romulus; Saada, Julien; Gonzales, Marie; Guiochon-Mantel, Anne; Bessereau, Jean-Louis; Tawk, Marcel; Gut, Ivo; Gitiaux, Cyril; Melki, Judith

Epithelialized tunnels are a source of inflammation in hidradenitis suppurativa

上皮化通道是化脓性汗腺炎的炎症来源

Kristina Navrazhina, John W Frew, Patricia Gilleaudeau, Mary Sullivan-Whalen, Sandra Garcet, James G Krueger

Clinical delineation of SETBP1 haploinsufficiency disorder

SETBP1单倍体功能不全症的临床描述

Jansen, Nadieh A; Braden, Ruth O; Srivastava, Siddharth; Otness, Erin F; Lesca, Gaetan; Rossi, Massimiliano; Nizon, Mathilde; Bernier, Raphael A; Quelin, Chloé; van Haeringen, Arie; Kleefstra, Tjitske; Wong, Maggie M K; Whalen, Sandra; Fisher, Simon E; Morgan, Angela T; van Bon, Bregje W

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