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

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

ZFX基因变异与一种X连锁神经发育障碍相关,该障碍伴有复发性面部畸形。

James L Shepherdson,Katie Hutchison,Dilan Wellalage Don,George McGillivray,Tae-Ik Choi,Carolyn A Allan,David J Amor,Siddharth Banka,Donald G Basel,Laura D Buch,Deanna Alexis Carere,Renée Carroll,Jill Clayton-Smith,Ali Crawford,Morten Dunø,Laurence Faivre,Christopher P Gilfillan,Nina B Gold,Karen W Gripp,Emma Hobson,Alexander M Holtz,A Micheil Innes,Bertrand Isidor,Adam Jackson,Panagiotis Katsonis,Leila Amel Riazat Kesh

LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder

LARP1单倍体不足与一种常染色体显性遗传的神经发育障碍相关。

James Chettle ,Raymond J Louie ,Olivia Larner ,Robert Best ,Kevin Chen ,Josephine Morris ,Zinaida Dedeic ,Anna Childers ,R Curtis Rogers ,Barbara R DuPont ,Cindy Skinner ,Sébastien Küry ,Kevin Uguen ,Marc Planes ,Danielle Monteil ,Megan Li ,Aviva Eliyahu ,Lior Greenbaum ,Nofar Mor ,Thomas Besnard ,Bertrand Isidor ,Benjamin Cogné ,Alyssa Blesson ,Anne Comi ,Ingrid M Wentzensen ,Blake Vuocolo ,Seema R Lalani ,Roberta Sierra ,Lori Berry ,Kent Carter ,Stephan J Sanders ,Sarah P Blagden

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

导致X连锁智力障碍的USP27X变异体通过不同的机制破坏蛋白质功能。

Intisar Koch,Maya Slovik,Yuling Zhang,Bingyu Liu,Martin Rennie,Emily Konz,Benjamin Cogne,Muhannad Daana,Laura Davids,Illja J Diets,Nina B Gold,Alexander M Holtz,Bertrand Isidor,Hagar Mor-Shaked,Juanita Neira Fresneda,Karen Y Niederhoffer,Mathilde Nizon,Rolph Pfundt,Meh Simon,Apa Stegmann,Maria J Guillen Sacoto,Marijke Wevers,Tahsin Stefan Barakat,Shira Yanovsky-Dagan,Boyko S Atanassov,Rachel Toth,Chengjiang Gao,Francisco Bustos,Tamar Harel

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

PSMC3蛋白酶体亚基变体与神经发育迟缓和I型干扰素产生有关。

Frédéric Ebstein,Sébastien Küry,Yiran Guo,Hakon Hakonarson,Sophie Rondeau,Geneviève Baujat,Giulia Barcia,René Günther Feichtinger,Johannes Adalbert Mayr,Martin Preisel,Frédéric Laumonnier,Tilmann Kallinich,Alexej Knaus,Bertrand Isidor,Elke Hammer,Arnaud Droit,Evan E Eichler,Ype Elgersma,François Bolduc,Elke Krüger,Stéphane Bézieau

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

逐步使用基因组学和转录组学技术可提高孟德尔遗传病的诊断率

Estelle Colin, Yannis Duffourd, Martin Chevarin, Emilie Tisserant, Simon Verdez, Julien Paccaud, Ange-Line Bruel, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Julien Thevenon, Hana Safraou, Thomas Besnard, Alice Goldenberg, Benjamin Cogné, Bertrand Isidor, Julian Delanne, Arthur Sorlin, Sébas

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

CUX1 相关神经发育障碍:深入了解表型-基因型谱和潜在病理

Henry Oppermann #, Elia Marcos-Grañeda #, Linnea A Weiss, Christina A Gurnett, Anne Marie Jelsig, Susanne H Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair T Pagnamenta, Simone Race, Siddharth Srivastava, Zoë Frazier, Robert Maiwald, Matthias Pergande, Dona

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

FOCAD 的缺失(通过 SKI 信使 RNA 监视通路发挥作用)会导致一种伴有肝硬化的儿童综合征。

Ricardo Moreno Traspas,Tze Shin Teoh,Pui-Mun Wong,Michael Maier,Crystal Y Chia,Kenneth Lay,Nur Ain Ali,Austin Larson,Fuad Al Mutairi,Nouriya Abbas Al-Sannaa,Eissa Ali Faqeih,Majid Alfadhel,Huma Arshad Cheema,Juliette Dupont,Stéphane Bézieau,Bertrand Isidor,Dorrain Yanwen Low,Yulan Wang,Grace Tan,Poh San Lai,Hugues Piloquet,Madeleine Joubert,Hulya Kayserili,Kimberly A Kripps,Shareef A Nahas,Eric P Wartchow,Mikako Warren,Gandham SriLakshmi Bhavani,Majed Dasouki,Renata Sandoval,Elisa Carvalho,Luiza Ramos,Gilda Porta,Bin Wu,Harsha Prasada Lashkari,Badr AlSaleem,Raeda M BaAbbad,Anabela Natália Abreu Ferrão,Vasiliki Karageorgou,Natalia Ordonez-Herrera,Suliman Khan,Peter Bauer,Benjamin Cogne,Aida M Bertoli-Avella,Marie Vincent,Katta Mohan Girisha,Bruno Reversade

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

SLF2 和 SMC5 中的致病变异导致染色体分段和马赛克斑纹超倍体

Laura J Grange #, John J Reynolds #, Farid Ullah #, Bertrand Isidor #, Robert F Shearer, Xenia Latypova, Ryan M Baxley, Antony W Oliver, Anil Ganesh, Sophie L Cooke, Satpal S Jhujh, Gavin S McNee, Robert Hollingworth, Martin R Higgs, Toyoaki Natsume, Tahir Khan, Gabriel Á Martos-Moreno, Sharon Chupp

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

与神经发育障碍相关的SLITRK2变异会损害小鼠的兴奋性突触功能和认知能力。

Salima El Chehadeh # ,Kyung Ah Han # ,Dongwook Kim # ,Gyubin Jang # ,Somayeh Bakhtiari ,Dongseok Lim ,Hee Young Kim ,Jinhu Kim ,Hyeonho Kim ,Julia Wynn ,Wendy K Chung ,Giuseppina Vitiello ,Ioana Cutcutache ,Matthew Page ,Jozef Gecz ,Kelly Harper ,Ah-Reum Han ,Ho Min Kim ,Marja Wessels ,Allan Bayat ,Alberto Fernández Jaén ,Angelo Selicorni ,Silvia Maitz ,Arjan P M de Brouwer ,Anneke Vulto-van Silfhout ,Martin Armstrong ,Joseph Symonds ,Sébastien Küry ,Bertrand Isidor ,Benjamin Cogné ,Mathilde Nizon ,Claire Feger ,Jean Muller ,Erin Torti ,Dorothy K Grange ,Marjolaine Willems ,Michael C Kruer ,Jaewon Ko ,Amélie Piton ,Ji Won Um

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

重症监护病房婴儿加速基因组测序并控制成本:法国医院网络的可行性研究

Anne-Sophie Denommé-Pichon #, Antonio Vitobello #, Robert Olaso, Alban Ziegler, Médéric Jeanne, Frédéric Tran Mau-Them, Victor Couturier, Caroline Racine, Bertrand Isidor, Charlotte Poë, Thibaud Jouan, Anne Boland, Bertrand Fin, Delphine Bacq-Daian, Céline Besse, Aurore Garde, Adeline Prost, Philipp