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

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

大规模突变分析鉴定出驱动小鼠和人类TLR介导的自身免疫的UNC93B1变异体。

Victoria E Rael # ,Julian A Yano # ,John P Huizar ,Leianna C Slayden ,Madeleine A Weiss ,Elizabeth A Turcotte ,Jacob M Terry ,Wenqi Zuo ,Isabelle Thiffault ,Tomi Pastinen ,Emily G Farrow ,Janda L Jenkins ,Mara L Becker ,Stephen C Wong ,Anne M Stevens ,Catherine Otten ,Eric J Allenspach ,Devon E Bonner ,Jonathan A Bernstein ,Matthew T Wheeler ,Robert A Saxton ,Olivia Majer ,Gregory M Barton

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

直接进行单倍型解析的5碱基HiFi测序,用于罕见病队列中高甲基化异常值的全基因组分析

Warren A Cheung ,Adam F Johnson ,William J Rowell ,Emily Farrow ,Richard Hall ,Ana S A Cohen ,John C Means ,Tricia N Zion ,Daniel M Portik ,Christopher T Saunders ,Boryana Koseva ,Chengpeng Bi ,Tina K Truong ,Carl Schwendinger-Schreck ,Byunggil Yoo ,Jeffrey J Johnston ,Margaret Gibson ,Gilad Evrony ,William B Rizzo ,Isabelle Thiffault ,Scott T Younger ,Tom Curran ,Aaron M Wenger ,Elin Grundberg ,Tomi Pastinen

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

SHROOM4 的 X 连锁变异与泌尿道、肛门直肠、心血管和中枢神经系统的先天性异常有关

Caroline M Kolvenbach, Tim Felger, Luca Schierbaum, Isabelle Thiffault, Tomi Pastinen, Maria Szczepańska, Marcin Zaniew, Piotr Adamczyk, Allan Bayat, Öznur Yilmaz, Tobias T Lindenberg, Holger Thiele, Friedhelm Hildebrandt, Katrin Hinderhofer, Ute Moog, Alina C Hilger, Bonnie Sullivan, Lauren Bartik,

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

阐明 HYAL2 缺陷的临床表现和分子基础

James Fasham, Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily G Farrow, Isabelle Thiffault, Jennifer Kussman, Dihong Zhou, Rick Hemming, Kenneth Zahka, Barry A Chioza, Lettie E Rawlins, Olivia K Wenger, Adam C Gunning, Simone Pizzi, Roberta Onesimo, Giuseppe Zampino, Emily Barker, Natas

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability

赖氨酸乙酰转移酶 8 与大脑发育和综合征性智力障碍有关

Lin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, Justine Rousseau, Isabelle Thiffault, Rhonda E Schnur, Catherine Breen, Renske Oegema, Marjan Mm Weiss, Quinten Waisfisz, Sara Welner, Helen Kingston, Jordan A Hills, Elles Mj Boon, Lina Basel-Salmon, Osnat Konen, Hadassa Goldberg-Stern, Lily Bazak, 

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

神经发育障碍和癌症中BRPF1-KAT6复合物介导的组蛋白H3丙酰化不足

Kezhi Yan ,Justine Rousseau ,Keren Machol ,Laura A Cross ,Katherine E Agre ,Cynthia Forster Gibson ,Anne Goverde ,Kendra L Engleman ,Hannah Verdin ,Elfride De Baere ,Lorraine Potocki ,Dihong Zhou ,Maxime Cadieux-Dion ,Gary A Bellus ,Monisa D Wagner ,Rebecca J Hale ,Natacha Esber ,Alan F Riley ,Benjamin D Solomon ,Megan T Cho ,Kirsty McWalter ,Roy Eyal ,Meagan K Hainlen ,Bryce A Mendelsohn ,Hillary M Porter ,Brendan C Lanpher ,Andrea M Lewis ,Juliann Savatt ,Isabelle Thiffault ,Bert Callewaert ,Philippe M Campeau ,Xiang-Jiao Yang

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

GRK2 突变会损害 Hedgehog 和经典 Wnt 信号,从而导致 Jeune 综合征

Michaela Bosakova, Sara P Abraham, Alexandru Nita, Eva Hruba, Marcela Buchtova, S Paige Taylor, Ivan Duran, Jorge Martin, Katerina Svozilova, Tomas Barta, Miroslav Varecha, Lukas Balek, Jiri Kohoutek, Tomasz Radaszkiewicz, Ganesh V Pusapati, Vitezslav Bryja, Eric T Rush, Isabelle Thiffault, Deborah

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

转录共抑制因子ZMYM2的突变导致综合征性泌尿道畸形

Dervla M Connaughton,Rufeng Dai,Danielle J Owen,Jonathan Marquez,Nina Mann,Adda L Graham-Paquin,Makiko Nakayama,Etienne Coyaud,Estelle M N Laurent,Jonathan R St-Germain,Lot Snijders Blok,Arianna Vino,Verena Klämbt,Konstantin Deutsch,Chen-Han Wilfred Wu,Caroline M Kolvenbach,Franziska Kause,Isabel Ottlewski,Ronen Schneider,Thomas M Kitzler,Amar J Majmundar,Florian Buerger,Ana C Onuchic-Whitford,Mao Youying,Amy Kolb,Daanya Salmanullah,Evan Chen,Amelie T van der Ven,Jia Rao,Hadas Ityel,Steve Seltzsam,Johanna M Rieke,Jing Chen,Asaf Vivante,Daw-Yang Hwang,Stefan Kohl,Gabriel C Dworschak,Tobias Hermle,Mariëlle Alders,Tobias Bartolomaeus,Stuart B Bauer,Michelle A Baum,Eva H Brilstra,Thomas D Challman,Jacob Zyskind,Carrie E Costin , Katrina M Dipple , Floor A Duijkers , Marcia Ferguson , David R Fitzpatrick , Roger Fick , Ian A Glass , Peter J Hulick , Antonie D Kline , Ilona Krey , Selvin Kumar , Weining Lu , Elysa J Marco , Ingrid M Wentzensen,Heather C Mefford , Konrad Platzer,Inna S Povolotskaya , Juliann M Savatt,Natalia V Shcherbakova , Prabha Senguttuvan , Audrey E Squire , Deborah R Stein,Isabelle Thiffault , Victoria Y Voinova , Michael J G Somers,Michael A Ferguson,Avram Z Traum,Ghaleb H Daouk,Ankana Daga,Nancy M Rodig,Paulien A Terhal,Ellen van Binsbergen,Loai A Eid , Velibor Tasic , Hila Milo Rasouly , Tze Y Lim , Dina F Ahram , Ali G Gharavi , Heiko M Reutter , Heidi L Rehm , Daniel G MacArthur , Monkol Lek , Kristen M Laricchia , Richard P Lifton , Hong Xu,Shrikant M Mane , Simone Sanna-Cherchi , Andrew D Sharrocks,Brian Raught,Simon E Fisher , Maxime Bouchard,Mustafa K Khokha,Shirlee Shril,Friedhelm Hildebrandt

Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders

KCNB1 相关神经发育障碍中的 KV 2.1 功能障碍谱

Seok Kyu Kang, Carlos G Vanoye, Sunita N Misra, Dennis M Echevarria, Jeffrey D Calhoun, John B O'Connor, Katarina L Fabre, Dianalee McKnight, Laurie Demmer, Paula Goldenberg, Lauren E Grote, Isabelle Thiffault, Carol Saunders, Kevin A Strauss, Ali Torkamani, Jasper van der Smagt, Koen van Gassen, Ro

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

线粒体丙氨酰-tRNA 合成酶的不稳定性是致命的婴儿型心肌病的根本原因

Ewen W Sommerville, Xiao-Long Zhou, Monika Oláhová, Janda Jenkins, Liliya Euro, Svetlana Konovalova, Taru Hilander, Angela Pyle, Langping He, Sultan Habeebu, Carol Saunders, Anna Kelsey, Andrew A M Morris, Robert McFarland, Anu Suomalainen, Gráinne S Gorman, En-Duo Wang, Isabelle Thiffault, Henna Ty