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M

Matthew J. Varga

ambry genetics
H指数:6
被引数:118

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Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk

位点饱和度功能筛选确定与乳腺癌风险增加相关的PALB2错义变异

Nature Communications
IF15.7
2026-01-190
OAAI
Rick A.C.M. Boonen; Sabine C. Knaup; Roberta Menafra; Merel E. Braspenning; Magdalena B. Rother; Petra Kleiblova; Marketa Janatova; Dina Ruano; Chunling Hu; Huaizhi Huang; Vijai Joseph; Michael Conry; Stephan Heijl; Bas Vroling; Jelle J. Goeman; Matthew Varga; Marcy E. Richardson; Susan L. Kloet; Fergus J. Couch; Maaike P. G. Vreeswijk; Haico van Attikum
Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variants

整合蛋白质稳定性与AlphaMissense评分可提高对p53错义突变和框内氨基酸缺失变异的生物信息学影响预测

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-05-010
PRE
Rotenberg, Nitsan; Fortuno, Cristina; Varga, Matthew J.; Chamberlin, Adam C.; Ramadane-Morchadi, Lobna; Feng, Bing-Jian; de la Hoya, Miguel; Richardson, Marcy E.; Spurdle, Amanda B.
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence

ACMG/AMP对BRCA1错义变异的解释：结构信息评分增加了PP3/BP4计算证据的证据强度粒度

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-05-010
OAAI
Ramadane-Morchadi, L; Rotenberg, N; Esteban-Sánchez, A; Fortuno, C; Gómez-Sanz, A; Varga, MJ; Chamberlin, A; Richardson, ME; Michailidou, K; Pérez-Segura, P; Spurdle, AB; de la Hoya, M

研究方向

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M
Marcy E. Richardson
H 指数:19论文数:168被引数:1,711
F
Fergus J. Couch
H 指数:119论文数:1,336被引数:6.0万
A
Adam Chamberlin
H 指数:22论文数:76被引数:3,073
A
Amanda B. Spurdle
H 指数:95论文数:816被引数:4.0万
M
Miguel de la Hoya
H 指数:56论文数:271被引数:1.0万
E
Edwin S. Iversen
H 指数:35论文数:137被引数:6,586
Á
Álvaro N.A. Monteiro
H 指数:60论文数:473被引数:1.3万
R
Raymond H. Kim
H 指数:47论文数:407被引数:1.0万
M
Margaret E. Johnson
H 指数:23论文数:214被引数:7,950
T
Thales C. Nepomuceno
H 指数:9论文数:39被引数:364