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

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome

一种新的14q32.2父系缺失,包含整个DLK1基因,与Temple综合征相关。

Baena, Neus; Monk, David; Aguilera, Cinthia; Fraga, Mario F; Fernández, Agustín F; Gabau, Elisabeth; Corripio, Raquel; Capdevila, Nuria; Trujillo, Juan Pablo; Ruiz, Anna; Guitart, Miriam

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders

显性/X连锁基因检测在神经发育障碍患者中的高效性

Spataro, Nino; Trujillo-Quintero, Juan Pablo; Manso, Carmen; Gabau, Elisabeth; Capdevila, Nuria; Martinez-Glez, Victor; Berenguer-Llergo, Antoni; Reyes, Sara; Brunet, Anna; Baena, Neus; Guitart, Miriam; Ruiz, Anna

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

22名智力障碍男性患者的MED12错义变异:从非特异性症状到完全综合征

Maia, Nuno; Ibarluzea, Nekane; Misra-Isrie, Mala; Koboldt, Daniel C; Marques, Isabel; Soares, Gabriela; Santos, Rosário; Marcelis, Carlo L M; Keski-Filppula, Riikka; Guitart, Miriam; Gabau Vila, Elisabeth; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa-Aranzasti, Amaia; Cueto-González, Anna Maria; Chhouk, Brian H; Yeh, Rebecca C; Neil, Jennifer E; Abu-Libde, Bassam; Kleefstra, Tjitske; Elting, Mariet W; Császár, Andrea; Kárteszi, Judit; Bessenyei, Beáta; van Bokhoven, Hans; Jorge, Paula; van Hagen, Johanna M; de Brouwer, Arjan P M

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

多个组蛋白H4基因中反复出现的新生错义突变是神经发育综合征的根本原因。

Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Beleza Meireles, Ana; Elting, Mariet W; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A L; Koene, Saskia; Robertson, Stephen P; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M; Weiss, Janneke M M; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O M; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D; Bicknell, Louise S; van Haaften, Gijs

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

AGO1 基因中的新生编码变异会导致神经发育障碍和智力障碍

Audrey Schalk #, Margot A Cousin #, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Zoe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombe, Chloé Angelini, Vincent Michaud, Julien Van-Gils, Nino Spataro, Anna Ruiz, Elizabeth Gabau, Elliot Stolerman, Camerun Washington, Ray L

The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome

新型 KIF1A 错义变体 (R169T) 显著降低微管刺激的 ATPase 活性,并与 NESCAV 综合征相关

Cinthia Aguilera, Stefan Hümmer, Marc Masanas, Elisabeth Gabau, Miriam Guitart, A Arockia Jeyaprakash, Miguel F Segura, Anna Santamaria, Anna Ruiz

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

与安格曼综合征样疾病相关的新基因:扩展遗传谱

Cinthia Aguilera,Elisabeth Gabau,Ariadna Ramirez-Mallafré,Carme Brun-Gasca,Jana Dominguez-Carral,Veronica Delgadillo,Steve Laurie,Sophia Derdak,Natàlia Padilla,Xavier de la Cruz,Núria Capdevila,Nino Spataro,Neus Baena,Miriam Guitart,Anna Ruiz

Lack of response to disgusting food in the hypothalamus and related structures in Prader Willi syndrome

普拉德-威利综合征患者下丘脑及相关结构对令人作呕的食物缺乏反应

Blanco-Hinojo, Laura; Pujol, Jesus; Esteba-Castillo, Susanna; Martínez-Vilavella, Gerard; Giménez-Palop, Olga; Gabau, Elisabeth; Casamitjana, Laia; Deus, Joan; Novell, Ramón; Caixàs, Assumpta

High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders

智力障碍合并精神疾病成人中拷贝数变异发生率高

Viñas-Jornet, Marina; Esteba-Castillo, Susanna; Baena, Neus; Ribas-Vidal, Núria; Ruiz, Anna; Torrents-Rodas, David; Gabau, Elisabeth; Vilella, Elisabet; Martorell, Lourdes; Armengol, Lluís; Novell, Ramon; Guitart, Míriam