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

Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1

利用整合基因组学和转录组学工作流程解析非编码剪接改变变异:以FOXP1为例

Planté-Bordeneuve, Pauline; Jourdain, Anne-Sophie; Thuillier, Caroline; Caux, Aurélien; Tessarech, Marine; Meneboo, Jean-Pascal; Ait-Yahya, Emilie; Costantini, Sara; Brunelle, Perrine; Smol, Thomas

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

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review

BRPF1相关疾病的表型和基因型谱:29例新病例及文献综述

Colson, Cindy; Tessarech, Marine; Boucher-Brischoux, Elise; Boute-Benejean, Odile; Vincent-Delorme, Catherine; Vanlerberghe, Clémence; Boussion, Simon; Cunff, Justine Le; Duban-Bedu, Bénédicte; Faivre, Laurence; Thauvin, Christel; Philippe, Christophe; Bruel, Ange-Line; Tran Mau-Them, Frédéric; Houdayer, Clara; Lesca, Gaetan; Putoux, Audrey; Lévy, Jonathan; Patat, Olivier; Rio, Marlène; Ghoumid, Jamal; Smol, Thomas

Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.

产前结节性硬化症的诊断:240 例回顾性研究及文献综述

Milon Vincent, Malinge Marie-Claire, Blanluet Maud, Tessarech Marine, Battault Clarisse, Prestwich Sarah, Vary Béatrice, Gueracher Pierre, Legoff Louis, Barth Magalie, Houdayer Clara, Guichet Agnès, Rousseau Audrey, Bonneau Dominique, Procaccio Vincent, Bris Céline, Colin Estelle

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay

预测DIP2C单倍体功能不全的新生变异与表达性语言发育迟缓相关。

Ha, Thoa; Morgan, Angela; Bartos, Meghan N; Beatty, Katelyn; Cogné, Benjamin; Braun, Dominique; Gerber, Céline B; Gaspar, Harald; Kopps, Anna M; Rieubland, Claudine; Hurst, Anna C E; Amor, David J; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, André; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L; Vincent, Marie; de Vries, Bert B A; Walsh, Matthew B; Wechsler, Stephanie Burns; Zweier, Christiane; Schnur, Rhonda E; Guillen Sacoto, Maria J; Margot, Henri; Masotto, Barbara; Palafoll, Maria Irene Valenzuela; Nawaz, Urwah; Voineagu, Irina; Slavotinek, Anne

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

TCEAL1 功能丧失会导致 X 连锁显性遗传的神经发育综合征,并驱动 Xq22.2 缺失中的神经系统疾病特征。

Hijazi, Hadia; Reis, Linda M; Pehlivan, Davut; Bernstein, Jonathan A; Muriello, Michael; Syverson, Erin; Bonner, Devon; Estiar, Mehrdad A; Gan-Or, Ziv; Rouleau, Guy A; Lyulcheva, Ekaterina; Greenhalgh, Lynn; Tessarech, Marine; Colin, Estelle; Guichet, Agnès; Bonneau, Dominique; van Jaarsveld, R H; Lachmeijer, A M A; Ruaud, Lyse; Levy, Jonathan; Tabet, Anne-Claude; Ploski, Rafal; Rydzanicz, Małgorzata; Kępczyński, Łukasz; Połatyńska, Katarzyna; Li, Yidan; Fatih, Jawid M; Marafi, Dana; Rosenfeld, Jill A; Coban-Akdemir, Zeynep; Bi, Weimin; Gibbs, Richard A; Hobson, Grace M; Hunter, Jill V; Carvalho, Claudia M B; Posey, Jennifer E; Semina, Elena V; Lupski, James R

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

DHX30基因的新生错义突变会损害整体翻译并导致神经发育障碍

Lessel, Davor; Schob, Claudia; Küry, Sébastien; Reijnders, Margot R F; Harel, Tamar; Eldomery, Mohammad K; Coban-Akdemir, Zeynep; Denecke, Jonas; Edvardson, Shimon; Colin, Estelle; Stegmann, Alexander P A; Gerkes, Erica H; Tessarech, Marine; Bonneau, Dominique; Barth, Magalie; Besnard, Thomas; Cogné, Benjamin; Revah-Politi, Anya; Strom, Tim M; Rosenfeld, Jill A; Yang, Yaping; Posey, Jennifer E; Immken, LaDonna; Oundjian, Nelly; Helbig, Katherine L; Meeks, Naomi; Zegar, Kelsey; Morton, Jenny; The Ddd Study; Schieving, Jolanda H; Claasen, Ana; Huentelman, Matthew; Narayanan, Vinodh; Ramsey, Keri; Brunner, Han G; Elpeleg, Orly; Mercier, Sandra; Bézieau, Stéphane; Kubisch, Christian; Kleefstra, Tjitske; Kindler, Stefan; Lupski, James R; Kreienkamp, Hans-Jürgen

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

DHX30基因的新生错义突变会损害整体翻译并导致神经发育障碍

Davor Lessel ,Claudia Schob ,Sébastien Küry ,Margot R F Reijnders ,Tamar Harel ,Mohammad K Eldomery ,Zeynep Coban-Akdemir ,Jonas Denecke ,Shimon Edvardson ,Estelle Colin ,Alexander P A Stegmann ,Erica H Gerkes ,Marine Tessarech ,Dominique Bonneau ,Magalie Barth ,Thomas Besnard ,Benjamin Cogné ,Anya Revah-Politi ,Tim M Strom ,Jill A Rosenfeld ,Yaping Yang ,Jennifer E Posey ,LaDonna Immken ,Nelly Oundjian ,Katherine L Helbig ,Naomi Meeks ,Kelsey Zegar ,Jenny Morton ,Ana Claasen ,Matthew Huentelman ,Vinodh Narayanan ,Keri Ramsey ,Orly Elpeleg ,Sandra Mercier ,Stéphane Bézieau ,Christian Kubisch ,Tjitske Kleefstra ,Stefan Kindler ,James R Lupski ,Hans-Jürgen Kreienkamp