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

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype

进一步阐明 AUTS2 HX 重复结构域相关表型

Erdogan, Esin Nur; Cheng, Chi Vicky; Caraffi, Stefano G; Ivanovski, Ivan; Piatelli, Gianluca; Errichiello, Edoardo; Papavasiliou, Antigone S; Vasileiou, Georgia; Reis, André; Prince, Bradley; Hickey, Scott E; Koboldt, Daniel C; Schneider, Michael C; Porrmann, Joseph; Di Donato, Nataliya; Leis, Thomas; Perry, M Scott; Humberson, Jennifer; Rotenberg, Joshua; Bakhtiari, Somayeh; Magee, Helen; Kheradmand, Shaydah; Kruer, Michael C; Swale, Andrew; Weber, Astrid; Landes, Caren; Zuffardi, Orsetta; Garavelli, Livia; van Haeringen, Arie; Ruivenkamp, Claudia A L; Pauly, Melissa; Au, Ping Yee Billie; Dobyns, William B; Aldinger, Kimberly A

Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context

在标准患者护理背景下,对患有神经发育障碍的儿童的全外显子组测序 (WES) 数据进行重新分析

van Slobbe, Michelle; van Haeringen, Arie; Vissers, Lisenka E L M; Bijlsma, Emilia K; Rutten, Julie W; Suerink, Manon; Nibbeling, Esther A R; Ruivenkamp, Claudia A L; Koene, Saskia

Erratum: Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

更正:PHF8基因变异会导致一系列X连锁神经发育障碍和面部畸形。

Sobering, Andrew K; Bryant, Laura M; Li, Dong; McGaughran, Julie; Maystadt, Isabelle; Moortgat, Stephanie; Graham, John M Jr; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Vogt, Julie; Morton, Jenny; Brasch-Andersen, Charlotte; Steenhof, Maria; Hansen, Lars Kjærsgaard; Adler, Élodie; Lyonnet, Stanislas; Pingault, Veronique; Sandrine, Marlin; Ziegler, Alban; Donald, Tyhiesia; Nelson, Beverly; Holt, Brandon; Petryna, Oleksandra; Firth, Helen; McWalter, Kirsty; Zyskind, Jacob; Telegrafi, Aida; Juusola, Jane; Person, Richard; Bamshad, Michael J; Earl, Dawn; Chun-Hui Tsai, Anne; Yearwood, Katherine R; Marco, Elysa; Nowak, Catherine; Douglas, Jessica; Hakonarson, Hakon; Bhoj, Elizabeth J

Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders

SETD1A 和 SETD2 染色质疾病中的表观基因型-基因型-表型相关性

Lee, Sunwoo; Menzies, Lara; Hay, Eleanor; Ochoa, Eguzkine; Docquier, France; Rodger, Fay; Deshpande, Charu; Foulds, Nicola C; Jacquemont, Sébastien; Jizi, Khadije; Kiep, Henriette; Kraus, Alison; Löhner, Katharina; Morrison, Patrick J; Popp, Bernt; Richardson, Ruth; van Haeringen, Arie; Martin, Ezequiel; Toribio, Ana; Li, Fudong; Jones, Wendy D; Sansbury, Francis H; Maher, Eamonn R

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

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies

补充TUBA1A微管蛋白病的表型谱及其在早发性癫痫中的作用

Schröter, Julian; Popp, Bernt; Brennenstuhl, Heiko; Döring, Jan H; Donze, Stephany H; Bijlsma, Emilia K; van Haeringen, Arie; Huhle, Dagmar; Jestaedt, Leonie; Merkenschlager, Andreas; Arelin, Maria; Gräfe, Daniel; Neuser, Sonja; Oates, Stephanie; Pal, Deb K; Parker, Michael J; Lemke, Johannes R; Hoffmann, Georg F; Kölker, Stefan; Harting, Inga; Syrbe, Steffen

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

PHF8基因变异会导致一系列X连锁神经发育障碍和面部畸形。

Sobering, Andrew K; Bryant, Laura M; Li, Dong; McGaughran, Julie; Maystadt, Isabelle; Moortgat, Stephanie; Graham, John M Jr; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Vogt, Julie; Morton, Jenny; Brasch-Andersen, Charlotte; Steenhof, Maria; Hansen, Lars Kjærsgaard; Adler, Élodie; Lyonnet, Stanislas; Pingault, Veronique; Sandrine, Marlin; Ziegler, Alban; Donald, Tyhiesia; Nelson, Beverly; Holt, Brandon; Petryna, Oleksandra; Firth, Helen; McWalter, Kirsty; Zyskind, Jacob; Telegrafi, Aida; Juusola, Jane; Person, Richard; Bamshad, Michael J; Earl, Dawn; Tsai, Anne Chun-Hui; Yearwood, Katherine R; Marco, Elysa; Nowak, Catherine; Douglas, Jessica; Hakonarson, Hakon; Bhoj, Elizabeth J

Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family

在一个三代家族中,与致病性TAB2变异相关的骶骨异常(包括尾状附属物)、骨骼发育不良和产前心肌病

Koene, Saskia; Klerx-Melis, Floortje; Roest, Arno Anne Willem; Kleijwegt, Maarten Cornelis; Bootsma, Marianne; Haak, Monique C; van Haeringen, Meike Heleen; Ruivenkamp, Claudia Antoinette Laetitia; Nibbeling, Esther Anne Rieky; van Haeringen, Arie

Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons

更正:NEUROD2基因的破坏会导致前脑谷氨酸能神经元的细胞自主性缺陷,从而引发具有自闭症特征的神经发育综合征。

Runge, Karen; Mathieu, Rémi; Bugeon, Stéphane; Lafi, Sahra; Beurrier, Corinne; Sahu, Surajit; Schaller, Fabienne; Loubat, Arthur; Herault, Leonard; Gaillard, Stéphane; Pallesi-Pocachard, Emilie; Montheil, Aurélie; Bosio, Andreas; Rosenfeld, Jill A; Hudson, Eva; Lindstrom, Kristin; Mercimek-Andrews, Saadet; Jeffries, Lauren; van Haeringen, Arie; Vanakker, Olivier; Van Hecke, Audrey; Amrom, Dina; Küry, Sebastien; Ratner, Chana; Jethva, Reena; Gamble, Candace; Jacq, Bernard; Fasano, Laurent; Santpere, Gabriel; Lorente-Galdos, Belen; Sestan, Nenad; Gelot, Antoinette; Giacuzz, Sylvie; Goebbels, Sandra; Represa, Alfonso; Cardoso, Carlos; Cremer, Harold; de Chevigny, Antoine