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

Mutational scanning reveals oncogenic CTNNB1 mutations have diverse effects on signaling

突变扫描揭示致癌性CTNNB1突变对信号传导具有多种影响

Krishna, Anagha; Meynert, Alison; Dolt, Karamjit Singh; Kelder, Martijn; Mesropian, Agavni; Ewing, Ailith; Brouwers, Conny; Claassens, Jill Wc; Linssen, Margot M; Sheraz, Shahida; Taylor, Gillian Ca; Gautier, Philippe; Ferrer-Vaquer, Anna; Grimes, Graeme; Becher, Hannes; Silk, Ryan; Gris-Oliver, Albert; Pinyol, Roser; Semple, Colin A; Kendall, Timothy J; Bird, Thomas Graham; Hadjantonakis, Anna-Katerina; Marsh, Joseph A; Llovet, Josep M; Hohenstein, Peter; Wood, Andrew J; Ozdemir, Derya D

A structure-guided approach to noncoding variant evaluation for transcription factor binding using AlphaFold 3

利用 AlphaFold 3 进行非编码变异体评估以预测转录因子结合能力的结构导向方法

Gerasimavicius, Lukas; Biddie, Simon C; Marsh, Joseph A

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

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series

PTPN1单倍体功能不全引起的自身炎症性脑病:病例系列

Zhu, Gaofeng; Didry-Barca, Blaise; Seabra, Luis; Rice, Gillian I; Uggenti, Carolina; Touimy, Moncef; Rodero, Mathieu P; Trapero, Rolando Hernandez; Bondet, Vincent; Duffy, Darragh; Gautier, Philippe; Livingstone, Katie; Sutherland, Fraser J H; Lebon, Pierre; Parisot, Mélanie; Bole-Feysot, Christine; Masson, Cécile; Cagnard, Nicolas; Nitschké, Patrick; Anderson, Glenn; Assmann, Birgit; Barth, Magalie; Boespflug-Tanguy, Odile; D'Arco, Felice; Dorboz, Imen; Giese, Thomas; Hacohen, Yael; Hancarova, Miroslava; Husson, Marie; Lepine, Anne; Lim, Ming; Mancardi, Maria Margherita; Melki, Isabelle; Neubauer, David; Sa, Mario; Sedlacek, Zdenek; Seitz, Angelika; Rottman, Mika Shapiro; Sanquer, Sylvia; Straussberg, Rachel; Vlčková, Markéta; Villéga, Frédéric; Wagner, Matias; Zerem, Ayelet; Marsh, Joseph A; Frémond, Marie-Louise; Kaliakatsos, Marios; Crow, Yanick J; El-Daher, Marie-Thérèse; Lepelley, Alice

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

Variant effect predictor correlation with functional assays is reflective of clinical classification performance

变异效应预测因子与功能检测的相关性反映了临床分类性能

Livesey, Benjamin J; Marsh, Joseph A

Variant scoring tools for deep mutational scanning

用于深度突变扫描的变异评分工具

Çubuk, Hasan; Jin, Xinyi; Phipson, Belinda; Marsh, Joseph A; Rubin, Alan F

CDK4 loss-of-function mutations cause microcephaly and short stature.

CDK4 功能丧失突变会导致小头畸形和身材矮小

Verdu Schlie Aitana, Leitch Andrea, Arismendi Maria Izabel, Stok Colin, Castro Leal Andrea, Parry David A, Marcondes Lerario Antonio, Harley Margaret E, Lucheze Bruna, Carroll Paula L, Musialik Kamila I, Auer Julia M T, Martin Carol-Anne, Gerasimavicius Lukas, Quigley Alan J, de Menezes Correia-Deur Joya Emilie, Marsh Joseph A, Reijns Martin A M, Lampe Anne K, Jackson Andrew P, Jorge Alexander A L, Tamayo-Orrego Lukas

Leveraging protein structural information to improve variant effect prediction

利用蛋白质结构信息改进变异效应预测

Gerasimavicius, Lukas; Teichmann, Sarah A; Marsh, Joseph A