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

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

PTBP1 变异体表现出核质分布改变,是导致伴有骨骼发育不良的神经发育障碍的原因。

Masson, Aymeric; Paccaud, Julien; Orefice, Martina; Colin, Estelle; Mäkitie, Outi; Cormier-Daire, Valérie; Relator, Raissa; Ghosh, Sourav; Strub, Jean-Marc; Schaeffer-Reiss, Christine; Marcelis, Carlo; Koolen, David A; Pfundt, Rolph; de Boer, Elke; Vissers, Lisenka Elm; Gardeitchik, Thatjana; Aarts, Lonneke Am; Rinne, Tuula; Terhal, Paulien A; Verbeek, Nienke E; Zuurbier, Linda C; Plomp, Astrid S; Wessels, Marja W; de Man, Stella A; Bouman, Arjan; Bird, Lynne M; Saadeh-Haddad, Reem; Guillen Sacoto, Maria J; Person, Richard; Gooch, Catherine; Hurst, Anna Ce; Thompson, Michelle L; Hiatt, Susan M; Littlejohn, Rebecca O; Roeder, Elizabeth R; Mori, Mari; Hickey, Scott E; Hunter, Jesse M; Lee, Kristy; Osman, Khaled; Halloun, Rana; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Duplomb-Jego, Laurence; El It, Fatima; Duffourd, Yannis; Tran Mau-Them, Frédéric; Huber, Celine; Gordon, Christopher T; Taylan, Fulya; Mäkitie, Riikka E; Costantini, Alice; Valta, Helena; Robertson, Stephen; Poke, Gemma; Francoise, Michel; Ciolfi, Andrea; Tartaglia, Marco; Ekhilevitch, Nina; Zaid, Rinat; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Delanne, Julian; Chevarin, Martin; Vautrot, Valentin; Bourgeois, Valentin; Nguyen, Sylvie; Marle, Nathalie; Callier, Patrick; Safraou, Hana; Morgan, Angela; Amor, David J; Hildebrand, Michael S; Coman, David; Aubert Mucca, Marion; Thevenon, Julien; Laffargue, Fanny; Bilan, Frédéric; Pebrel-Richard, Céline; Yoon, Grace; Axford, Michelle M; Pérez-Jurado, Luis A; Sevilla-Porras, Marta; Black, Douglas L; Philippe, Christophe; Sadikovic, Bekim; Thauvin-Robinet, Christel; Olivier-Faivre, Laurence; Ori, Michela; Thomas, Quentin; Vitobello, Antonio

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

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

106例携带主要自闭症基因CHD8变异的患者的表型谱及基因型-表型相关性研究

Dingemans, Alexander J M; Truijen, Kim M G; van de Ven, Sam; Bernier, Raphael; Bongers, Ernie M H F; Bouman, Arjan; de Graaff-Herder, Laura; Eichler, Evan E; Gerkes, Erica H; De Geus, Christa M; van Hagen, Johanna M; Jansen, Philip R; Kerkhof, Jennifer; Kievit, Anneke J A; Kleefstra, Tjitske; Maas, Saskia M; de Man, Stella A; McConkey, Haley; Patterson, Wesley G; Dobson, Amy T; Prijoles, Eloise J; Sadikovic, Bekim; Relator, Raissa; Stevenson, Roger E; Stumpel, Connie T R M; Heijligers, Malou; Stuurman, Kyra E; Löhner, Katharina; Zeidler, Shimriet; Lee, Jennifer A; Lindy, Amanda; Zou, Fanggeng; Tedder, Matthew L; Vissers, Lisenka E L M; de Vries, Bert B A

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.

从头产生的截短型 NOVA2 变体影响选择性剪接,导致异质性神经发育表型

Scala Marcello, Drouot Nathalie, MacLennan Suzanna C, Wessels Marja W, Krygier Magdalena, Pavinato Lisa, Telegrafi Aida, de Man Stella A, van Slegtenhorst Marjon, Iacomino Michele, Madia Francesca, Scudieri Paolo, Uva Paolo, Giacomini Thea, Nobile Giulia, Mancardi Maria Margherita, Balagura Ganna, Galloni Giovanni Battista, Verrotti Alberto, Umair Muhammad, Khan Amjad, Liebelt Jan, Schmidts Miriam, Langer Thorsten, Brusco Alfredo, Lipska-Ziętkiewicz Beata S, Saris Jasper J, Charlet-Berguerand Nicolas, Zara Federico, Striano Pasquale, Piton Amélie

Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability

人类KCNQ5基因的新生突变是癫痫和智力障碍的根本原因。

Wei, Aguan D; Wakenight, Paul; Zwingman, Theresa A; Bard, Angela M; Sahai, Nikhil; Willemsen, Marjolein H; Schelhaas, Helenius J; Stegmann, Alexander P A; Verhoeven, Judith S; de Man, Stella A; Wessels, Marja W; Kleefstra, Tjitske; Shinde, Deepali N; Helbig, Katherine L; Basinger, Alice; Wagner, Victoria F; Rodriguez-Buritica, David; Bryant, Emily; Millichap, John J; Millen, Kathleen J; Dobyns, William B; Ramirez, Jan-Marino; Kalume, Franck K

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

CHD5基因的错义突变和截断突变导致一种显性遗传的神经发育障碍,伴有智力障碍、行为障碍和癫痫。

Parenti, Ilaria; Lehalle, Daphné; Nava, Caroline; Torti, Erin; Leitão, Elsa; Person, Richard; Mizuguchi, Takeshi; Matsumoto, Naomichi; Kato, Mitsuhiro; Nakamura, Kazuyuki; de Man, Stella A; Cope, Heidi; Shashi, Vandana; Friedman, Jennifer; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Muffels, Irena; van Hasselt, Peter M; Petit, Florence; Smol, Thomas; Le Guyader, Gwenaël; Bilan, Frédéric; Sorlin, Arthur; Vitobello, Antonio; Philippe, Christophe; van de Laar, Ingrid M B H; van Slegtenhorst, Marjon A; Campeau, Philippe M; Au, Ping Yee Billie; Nakashima, Mitsuko; Saitsu, Hirotomo; Yamamoto, Tatsuya; Nomura, Yumiko; Louie, Raymond J; Lyons, Michael J; Dobson, Amy; Plomp, Astrid S; Motazacker, M Mahdi; Kaiser, Frank J; Timberlake, Andrew T; Fuchs, Sabine A; Depienne, Christel; Mignot, Cyril

Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series

ATP1A3相关疾病表型扩展:病例系列

De Vrieze, Jelena; van de Laar, Ingrid M B H; de Rijk-van Andel, Johanneke F; Kamsteeg, Erik-Jan; Kotsopoulos, Irene A W; de Man, Stella A

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

SCAF4基因变异会导致神经发育障碍,并与mRNA加工受损有关。

Fliedner, Anna; Kirchner, Philipp; Wiesener, Antje; van de Beek, Irma; Waisfisz, Quinten; van Haelst, Mieke; Scott, Daryl A; Lalani, Seema R; Rosenfeld, Jill A; Azamian, Mahshid S; Xia, Fan; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Noh, Grace J; Lippa, Natalie; Alkelai, Anna; Aggarwal, Vimla; Agre, Katherine E; Gavrilova, Ralitza; Mirzaa, Ghayda M; Straussberg, Rachel; Cohen, Rony; Horist, Brooke; Krishnamurthy, Vidya; McWalter, Kirsty; Juusola, Jane; Davis-Keppen, Laura; Ohden, Lisa; van Slegtenhorst, Marjon; de Man, Stella A; Ekici, Arif B; Gregor, Anne; van de Laar, Ingrid; Zweier, Christiane

The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course

CLN3基因中c.1A>C起始密码子突变与疾病病程迁延相关。

Kuper, Willemijn F E; van Alfen, Claudia; van Eck, Linda; de Man, Stella A; Willemsen, Marjolein H; van Gassen, Koen L I; Losekoot, Monique; van Hasselt, Peter M

Automated radiogrammetry is a feasible method for measuring bone quality and bone maturation in severely disabled children

自动放射测量法是测量重度残疾儿童骨骼质量和骨骼成熟度的可行方法。

Mergler, Sandra; de Man, Stella A; Boot, Annemieke M; Heus, Karen G C B Bindels-de; Huijbers, Wim A R; van Rijn, Rick R; Penning, Corine; Evenhuis, Heleen M