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

Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder

儿童神经系统诊断可能符合发育性协调障碍的诊断标准

Garofalo, Martinica; Vansenne, Fleur; van Hoorn, Jessika F; Tijssen, Marina A J; Verbeek, Dineke S; Sival, Deborah A

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

KCNH5 电压感应和孔道结构域错义变异个体的神经发育和癫痫表型

Happ, Hannah C; Sadleir, Lynette G; Zemel, Matthew; de Valles-Ibáñez, Guillem; Hildebrand, Michael S; McConkie-Rosell, Allyn; McDonald, Marie; May, Halie; Sands, Tristan; Aggarwal, Vimla; Elder, Christopher; Feyma, Timothy; Bayat, Allan; Møller, Rikke S; Fenger, Christina D; Klint Nielsen, Jens Erik; Datta, Anita N; Gorman, Kathleen M; King, Mary D; Linhares, Natalia D; Burton, Barbara K; Paras, Andrea; Ellard, Sian; Rankin, Julia; Shukla, Anju; Majethia, Purvi; Olson, Rory J; Muthusamy, Karthik; Schimmenti, Lisa A; Starnes, Keith; Sedláčková, Lucie; Štěrbová, Katalin; Vlčková, Markéta; Laššuthová, Petra; Jahodová, Alena; Porter, Brenda E; Couque, Nathalie; Colin, Estelle; Prouteau, Clément; Collet, Corinne; Smol, Thomas; Caumes, Roseline; Vansenne, Fleur; Bisulli, Francesca; Licchetta, Laura; Person, Richard; Torti, Erin; McWalter, Kirsty; Webster, Richard; Gerard, Elizabeth E; Lesca, Gaetan; Szepetowski, Pierre; Scheffer, Ingrid E; Mefford, Heather C; Carvill, Gemma L

Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration

NAE1 中的双等位基因变异会导致智力障碍、坐骨耻骨发育不全、应激介导的淋巴细胞减少和神经退行性疾病

Irena J J Muffels, Imre F Schene, Holger Rehmann, Maarten P G Massink, Maria M van der Wal, Corinna Bauder, Martha Labeur, Natalia G Armando, Maarten H Lequin, Michiel L Houben, Jaques C Giltay, Saskia Haitjema, Albert Huisman, Fleur Vansenne, Judith Bluvstein, John Pappas, Lala V Shailee, Yuri A Za

Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders

发育性协调障碍的发病机制研究揭示其与运动障碍存在显著重叠

Garofalo, Martinica; Vansenne, Fleur; Sival, Deborah A; Verbeek, Dineke S

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

阐明SETD1B相关综合征的分子和表型谱

Weerts, Marjolein J A; Lanko, Kristina; Guzmán-Vega, Francisco J; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londoño, Kelly J; Peña-Guerra, Karla A; van Bever, Yolande; van Paassen, Barbara W; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M; Kehoe, Caroline M; Robinson, Hannah K; Pang, Lewis; Banu, Selina H; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Järvelä, Irma; Lauronen, Leena; Määttä, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M; Ruivenkamp, Claudia A L; Barge-Schaapveld, Daniela Q C M; Peeters-Scholte, Cacha M P C D; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K; Lupski, James R; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt, J Lawrence 2nd; Mirzaa, Ghayda M; Timms, Andrew E; Scheck, Joshua; Elting, Mariet W; Polstra, Abeltje M; Schenck, Lauren; Ruzhnikov, Maura R Z; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C; Mosher, Theresa Mihalic; Pastore, Matthew T; McBride, Kim L; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D; de Vries, Bert B A; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R; Klemp, Kara C; Vansenne, Fleur; van Gijn, Marielle E; Quindipan, Catherine; Deardorff, Matthew A; Hamm, J Austin; Putnam, Abbey M; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A; Baptista, Julia; Person, Richard E; Monaghan, Kristin G; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T; Barakat, Tahsin Stefan

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

TRIO 基因突变对 RAC1 的反向调节与不同领域特异性的神经发育障碍相关

Sónia Barbosa, Stephanie Greville-Heygate, Maxime Bonnet, Annie Godwin, Christine Fagotto-Kaufmann, Andrey V Kajava, Damien Laouteouet, Rebecca Mawby, Htoo Aung Wai, Alexander J M Dingemans, Jayne Hehir-Kwa, Marjorlaine Willems, Yline Capri, Sarju G Mehta, Helen Cox, David Goudie, Fleur Vansenne, Pe

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

TRIO基因突变对RAC1的相反调控作用与不同的、特定领域的神经发育障碍相关

Sónia Barbosa,Stephanie Greville-Heygate,Maxime Bonnet,Annie Godwin,Christine Fagotto-Kaufmann,Andrey V Kajava,Damien Laouteouet,Rebecca Mawby,Htoo Aung Wai,Alexander J M Dingemans,Jayne Hehir-Kwa,Marjorlaine Willems,Yline Capri,Sarju G Mehta,Helen Cox,David Goudie,Fleur Vansenne,Peter Turnpenny,Marie Vincent,Benjamin Cogné,Gaëtan Lesca,Jozef Hertecant,Diana Rodriguez,Boris Keren,Lydie Burglen,Marion Gérard,Audrey Putoux  ; CRCD Research Group  ; Vincent Cantagrel,Karine Siquier-Pernet,Marlene Rio,Siddharth Banka,Ajoy Sarkar,Marcie Steeves,Michael Parker,Emma Clement,Sébastien Moutton,Frédéric Tran Mau-Them,Amélie Piton,Bert B A de Vries,Matthew Guille,Anne Debant,Susanne Schmidt,Diana Baralle

De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

CAMTA1基因的新生突变会导致一种综合征,该综合征的症状与痉挛、共济失调和智力障碍的关联程度不一。

Wijnen, Iris G M; Veenstra-Knol, Hermine E; Vansenne, Fleur; Gerkes, Erica H; de Koning, Tom; Vos, Yvonne J; Tijssen, Marina A J; Sival, Deborah; Darin, Niklas; Vanhoutte, Els K; Oosterloo, Mayke; Pennings, Maartje; van de Warrenburg, Bart P; Kamsteeg, Erik-Jan

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

基因型优先的方法识别出一种由PHIP单倍体不足引起的智力障碍-超重综合征。

Jansen, Sandra; Hoischen, Alexander; Coe, Bradley P; Carvill, Gemma L; Van Esch, Hilde; Bosch, Daniëlle G M; Andersen, Ulla A; Baker, Carl; Bauters, Marijke; Bernier, Raphael A; van Bon, Bregje W; Claahsen-van der Grinten, Hedi L; Gecz, Jozef; Gilissen, Christian; Grillo, Lucia; Hackett, Anna; Kleefstra, Tjitske; Koolen, David; Kvarnung, Malin; Larsen, Martin J; Marcelis, Carlo; McKenzie, Fiona; Monin, Marie-Lorraine; Nava, Caroline; Schuurs-Hoeijmakers, Janneke H; Pfundt, Rolph; Steehouwer, Marloes; Stevens, Servi J C; Stumpel, Connie T; Vansenne, Fleur; Vinci, Mirella; van de Vorst, Maartje; Vries, Petra de; Witherspoon, Kali; Veltman, Joris A; Brunner, Han G; Mefford, Heather C; Romano, Corrado; Vissers, Lisenka E L M; Eichler, Evan E; de Vries, Bert B A

Expanding the ADCY5 phenotype toward spastic paraparesis: A mutation in the M2 domain

ADCY5表型向痉挛性截瘫扩展:M2结构域的突变

Waalkens, Anne J E; Vansenne, Fleur; van der Hout, Annemarie H; Zutt, Rodi; Mourmans, Jeroen; Tolosa, Eduardo; de Koning, Tom J; Tijssen, Marina A J