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

BAF complex-independent gene activation by SS18::SSX

SS18::SSX 介导的 BAF 复合物非依赖性基因激活

Sotiriou, Afroditi; Li, Jinxiu; Middha, Sanya; Ward, Jake A; Troester, Selina; Mao, Lianghao; Schneider, Martin; Frey, Dario; Wray, Eliza C; Bocedi, Sara; Smith-Fry, Kyllie; Morrison, Linda; Carroll, Lara; Badonyi, Mihaly; Marsh, Joseph A; Jayavelu, Ashok Kumar; Mayor-Ruiz, Cristina; Cairns, Bradley R; Jones, Kevin B; Benabdallah, Nezha S; Banito, Ana

Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes

遗传疾病表型中功能丧失、功能获得和显性负性机制的普遍性

Badonyi, Mihaly; Marsh, Joseph A

Guidelines for releasing a variant effect predictor

发布变异效应预测器的指南

Livesey, Benjamin J; Badonyi, Mihaly; Dias, Mafalda; Frazer, Jonathan; Kumar, Sushant; Lindorff-Larsen, Kresten; McCandlish, David M; Orenbuch, Rose; Shearer, Courtney A; Muffley, Lara; Foreman, Julia; Glazer, Andrew M; Lehner, Ben; Marks, Debora S; Roth, Frederick P; Rubin, Alan F; Starita, Lea M; Marsh, Joseph A

Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation

RyR1临床解读中结构和变异效应预测因子的互补作用

Hernández Trapero, Rolando; Badonyi, Mihaly; Gerasimavicius, Lukas; Marsh, Joseph A

Dominant-negative effects of Weaver syndrome-associated EZH2 variants

Weaver综合征相关EZH2变异体的显性负效应

Orla Deevy ,Jingjing Li ,Craig Monger ,Francesca Matrà ,Ellen Tuck ,Molly Davies ,Mihaly Badonyi ,Maeve Boyce ,Emma J Doyle ,Karsten Hokamp ,Darragh Nimmo ,Simona Rodighiero ,Qi Zhang ,Chen Davidovich ,Joseph A Marsh ,Diego Pasini ,Eric Conway # ,Adrian P Bracken #

acmgscaler: an R package and Colab for standardized gene-level variant effect score calibration within the ACMG/AMP framework

acmgscaler:一个 R 包和 Colab,用于在 ACMG/AMP 框架内进行标准化的基因水平变异效应评分校准。

Badonyi, Mihaly; Marsh, Joseph A

Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus

人类UNC93B1基因功能获得性变异可导致系统性红斑狼疮和冻疮性红斑狼疮。

Clémence David ,Carlos A Arango-Franco # ,Mihaly Badonyi # ,Julien Fouchet # ,Gillian I Rice ,Blaise Didry-Barca ,Lucie Maisonneuve ,Luis Seabra ,Robin Kechiche ,Cécile Masson ,Aurélie Cobat ,Laurent Abel ,Estelle Talouarn ,Vivien Béziat ,Caroline Deswarte ,Katie Livingstone ,Carle Paul ,Gulshan Malik ,Alison Ross ,Jane Adam ,Jo Walsh ,Sathish Kumar ,Damien Bonnet ,Christine Bodemer ,Brigitte Bader-Meunier ,Joseph A Marsh ,Jean-Laurent Casanova ,Yanick J Crow ,Bénédicte Manoury # ,Marie-Louise Frémond # ,Jonathan Bohlen # ,Alice Lepelley #

ALDH1A3-acetaldehyde metabolism potentiates transcriptional heterogeneity in melanoma

ALDH1A3-乙醛代谢增强黑色素瘤的转录异质性

Yuting Lu ,Jana Travnickova ,Mihaly Badonyi ,Florian Rambow ,Andrea Coates ,Zaid Khan ,Jair Marques ,Laura C Murphy ,Pablo Garcia-Martinez ,Richard Marais ,Pakavarin Louphrasitthiphol ,Alex H Y Chan ,Christopher J Schofield ,Alex von Kriegsheim ,Joseph A Marsh ,Valeria Pavet ,Owen J Sansom ,Robert S Illingworth ,E Elizabeth Patton

Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease

TLR7 界面功能获得突变导致系统性和神经炎症疾病

Clémence David, Mihaly Badonyi, Robin Kechiche, Antonella Insalaco, Marco Zecca, Fabrizio De Benedetti, Simona Orcesi, Luisa Chiapparini, Patrizia Comoli, Silvia Federici, Marco Gattorno, Monia Ginevrino, Elisa Giorgio, Valentina Matteo, Patricia Moran-Alvarez, Davide Politano, Giusi Prencipe, Fabio

ALDH1A3-acetaldehyde metabolism potentiates transcriptional heterogeneity in melanoma

ALDH1A3-乙醛代谢增强黑色素瘤的转录异质性

Lu, Yuting; Travnickova, Jana; Badonyi, Mihaly; Rambow, Florian; Coates, Andrea; Khan, Zaid; Marques, Jair; Murphy, Laura C; Garcia-Martinez, Pablo; Marais, Richard; Louphrasitthiphol, Pakavarin; Chan, Alex H Y; Schofield, Christopher J; von Kriegsheim, Alex; Marsh, Joseph A; Pavet, Valeria; Sansom, Owen J; Illingworth, Robert S; Patton, E Elizabeth