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

De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder

LRRC8C基因的新生突变导致通道持续激活,从而引发人类多系统疾病。

Mathieu Quinodoz # ,Sonja Rutz # ,Virginie Peter # ,Livia Garavelli # ,A Micheil Innes # ,Elena F Lehmann ,Stephan Kellenberger ,Zhong Peng ,Angelica Barone ,Belinda Campos-Xavier ,Sheila Unger ,Carlo Rivolta ,Raimund Dutzler ,Andrea Superti-Furga

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

TRAPPC6B双等位基因变异会导致一种伴有TRAPP II和转运障碍的神经发育障碍。

Hashem Almousa ,Sara A Lewis ,Somayeh Bakhtiari ,Sandra Hinz Nordlie ,Alex Pagnozzi ,Helen Magee ,Stephanie Efthymiou ,Jennifer A Heim ,Patricia Cornejo ,Maha S Zaki ,Najwa Anwar ,Shazia Maqbool ,Fatima Rahman ,Derek E Neilson ,Anusha Vemuri ,Sheng Chih Jin ,Xiao-Ru Yang ,Abolfazl Heidari ,Koen van Gassen ,Aurélien Trimouille ,Christel Thauvin-Robinet ,James Liu ,Ange-Line Bruel ,Hoda Tomoum ,Mennatallah O Shata ,Mais O Hashem ,Mehran Beiraghi Toosi ,Ehsan Ghayoor Karimiani ,Gözde Yeşil ,Lokesh Lingappa ,Debangana Baruah ,Farnoosh Ebrahimzadeh ,Julien Van-Gils ,Laurence Faivre ,Mina Zamani ,Hamid Galehdari ,Saeid Sadeghian ,Gholamreza Shariati ,Rahema Mohammad ,Jasper van der Smagt ,Alya Qari ,John B Vincent ,A Micheil Innes ,Ali Dursun ,R Köksal Özgül ,Halil Tuna Akar ,Kaya Bilguvar ,Cyril Mignot ,Boris Keren ,Claudia Raveli ,Lydie Burglen ,Alexandra Afenjar ,Laura Donker Kaat ,Marjon van Slegtenhorst ,Fowzan Alkuraya ,Henry Houlden ,Sergio Padilla-Lopez ,Reza Maroofian ,Michael Sacher ,Michael C Kruer

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

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder

E3泛素连接酶底物识别亚基FEM1B中一个反复出现的错义变异会导致一种罕见的综合征性神经发育障碍。

François Lecoquierre ,A Mattijs Punt ,Frédéric Ebstein ,Ilse Wallaard ,Rob Verhagen ,Maja Studencka-Turski ,Yannis Duffourd ,Sébastien Moutton ,Frédédic Tran Mau-Them ,Christophe Philippe ,John Dean ,Stephen Tennant ,Alice S Brooks ,Marjon A van Slegtenhorst ,Julie A Jurgens ,Brenda J Barry ,Wai-Man Chan ,Eleina M England ,Mayra Martinez Ojeda ,Elizabeth C Engle ,Caroline D Robson ,Michelle Morrow ,A Micheil Innes ,Ryan Lamont ,Matthea Sanderson ,Elke Krüger ,Christel Thauvin ,Ben Distel ,Laurence Faivre ,Ype Elgersma ,Antonio Vitobello

Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population

铁氧还蛋白还原酶相关线粒体病的临床研究:墨西哥人群的基因型-表型相关性和基于血统的携带者筛查建议

Teresa Campbell, Jesse Slone, Hallie Metzger, Wensheng Liu, Stephanie Sacharow, Amy Yang, Mariya Moosajee, Chiara La Morgia, Valerio Carelli, Flavia Palombo, Matthew A Lines, A Micheil Innes, Rebecca J Levy, Derek Neilson, Nicola Longo, Taosheng Huang

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5

GEMIN5 致病性双等位基因变异患者的常染色体隐性小脑萎缩和痉挛性共济失调

Deepa S Rajan, Sukhleen Kour, Tyler R Fortuna, Margot A Cousin, Sarah S Barnett, Zhiyv Niu, Dusica Babovic-Vuksanovic, Eric W Klee, Brian Kirmse, Micheil Innes, Siri Lynne Rydning, Kaja K Selmer, Magnus Dehli Vigeland, Anne Kjersti Erichsen, Andrea H Nemeth, Francisca Millan, Catherine DeVile, Kathe

Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo

Hnrnpul1 控制转录、剪接并调节体内骨骼和肢体的发育

Danielle L Blackwell, Sherri D Fraser, Oana Caluseriu, Claudia Vivori, Amanda V Tyndall, Ryan E Lamont, Jillian S Parboosingh, A Micheil Innes, François P Bernier, Sarah J Childs

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders

GRIK2红藻氨酸受体亚基基因的聚集性突变是多种神经发育障碍的病因。

Jacob R Stolz ,Kendall M Foote ,Hermine E Veenstra-Knol ,Rolph Pfundt ,Sanne W Ten Broeke ,Nicole de Leeuw ,Laura Roht ,Sander Pajusalu ,Reelika Part ,Ionella Rebane ,Katrin Õunap ,Zornitza Stark ,Edwin P Kirk ,John A Lawson ,Sebastian Lunke ,John Christodoulou ,Raymond J Louie ,R Curtis Rogers ,Jessica M Davis ,A Micheil Innes ,Xing-Chang Wei ,Boris Keren ,Cyril Mignot ,Robert Roger Lebel ,Steven M Sperber ,Ai Sakonju ,Nienke Dosa ,Daniela Q C M Barge-Schaapveld ,Cacha M P C D Peeters-Scholte ,Claudia A L Ruivenkamp ,Bregje W van Bon ,Joanna Kennedy ,Karen J Low ,Sian Ellard ,Lewis Pang ,Joseph J Junewick ,Paul R Mark ,Gemma L Carvill ,Geoffrey T Swanson

The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function

与偏瘫性偏头痛、早发性小脑萎缩和发育迟缓相关的新生 CACNA1A 致病变异 Y1384C 导致 Cav2.1 通道功能丧失

Maria A Gandini, Ivana A Souza, Laurent Ferron, A Micheil Innes, Gerald W Zamponi

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

致病性DDX3X突变会损害胎儿皮层发育过程中的RNA代谢和神经发生

Ashley L Lennox ,Mariah L Hoye ,Ruiji Jiang ,Bethany L Johnson-Kerner ,Lindsey A Suit ,Srivats Venkataramanan ,Charles J Sheehan ,Fernando C Alsina ,Brieana Fregeau ,Kimberly A Aldinger ,Ching Moey ,Iryna Lobach ,Alexandra Afenjar ,Dusica Babovic-Vuksanovic ,Stéphane Bézieau ,Patrick R Blackburn ,Jens Bunt ,Lydie Burglen ,Philippe M Campeau ,Perrine Charles ,Brian H Y Chung ,Benjamin Cogné ,Cynthia Curry ,Maria Daniela D'Agostino ,Nataliya Di Donato ,Laurence Faivre ,Delphine Héron ,A Micheil Innes ,Bertrand Isidor ,Boris Keren ,Amy Kimball ,Eric W Klee ,Paul Kuentz ,Sébastien Küry ,Dominique Martin-Coignard ,Ghayda Mirzaa ,Cyril Mignot ,Noriko Miyake ,Naomichi Matsumoto ,Atsushi Fujita ,Caroline Nava ,Mathilde Nizon ,Diana Rodriguez ,Lot Snijders Blok ,Christel Thauvin-Robinet ,Julien Thevenon ,Marie Vincent ,Alban Ziegler ,William Dobyns ,Linda J Richards ,A James Barkovich ,Stephen N Floor ,Debra L Silver ,Elliott H Sherr