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M

Matheus Vernet Machado Bressan Wilke

Washington University in St. Louis
H指数:10
被引数:201

个人简介

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教育背景

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工作经历

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荣誉奖项

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A Second Report of a Missense Variant in AMMECR1 Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review

AMMECR1基因错义变异导致中面部发育不全、听力障碍、椭圆红细胞症和肾钙质沉着症的第二次报道：病例报告与文献综述

Clinical Genetics
IF2.3
2026-07-010
PRE
Jia W. Tan; Matheus Vernet Machado Bressan Wilke; Deepak Panwar; Eva S. Kahn; Marta Figueiral; Ozan Dikilitas; Yao Xiao; David J. Sas; Brendan C. Lanpher; Filippo Pinto e Vairo; Eric W. Klee
Novel RRAGD variants in autosomal dominant kidney hypomagnesemia and therapeutic perspectives

新发现的常染色体显性遗传性低镁血症中的RRAGD变异及其治疗展望

Kidney International Reports
IF5.7
2025-07-290
OAAI
Anastasia Adella; François Jouret; Leire Madariaga; Pieter A. Leermakers; Pedro Arango; Gema Ariceta; Bodo B. Beck; Anna Bjerre; Detlef Bockenhauer; Paula Coccia; Radhika Dhamija; Fernando de Frutos; Alejandro Garcia-Castano; Sara B. van Katwijk; Jesus Lucas; Thomas Möller; Dominik Müller; Filippo Pinto e Vairo; Melinda Raki; Jonathan Rips; Karl Peter Schlingmann; Hanka Venselaar; Matheus Vernet Machado Bressan Wilke; Tom Nijenhuis; Joost Hoenderop; Jeroen de Baaij
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/b-catenin signaling pathway
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-11-011
OAAI
Gong, Maolei; Li, Jiayi; Qin, Zailong; Wilke, Matheus Vernet Machado Bressan; Liu, Yijun; Li, Qian; Liu, Haoran; Liang, Chen; Morales-Rosado, Joel A.; Cohen, Ana S. A.; Hughes, Susan S.; Sullivan, Bonnie R.; Waddell, Valerie; van den Boogaard, Marie-Jose H.; van Jaarsveld, Richard H.; van Binsbergen, Ellen; van Gassen, Koen L.; Wang, Tianyun; Hiatt, Susan M.; Amaral, Michelle D.; Kelley, Whitley, V; Zhao, Jianbo; Feng, Weixing; Ren, Changhong; Yu, Yazhen; Boczek, Nicole J.; Ferber, Matthew J.; Lahner, Carrie; Elliott, Sherr; Ruan, Yiyan; Mignot, Cyril; Keren, Boris; Xie, Hua; Wang, Xiaoyan; Popp, Bernt; Zweier, Christiane; Piard, Juliette; Coubes, Christine; Mau-Them, Frederic Tran; Safraou, Hana; Innes, A. Micheil; Gauthier, Julie; Michaud, Jacques L.; Koboldt, Daniel C.; Sylvie, Odent; Willems, Marjolaine; Tan, Wen-Hann; Cogne, Benjamin; Rieubland, Claudine; Braun, Dominique; Mclean, Scott Douglas; Platzer, Konrad; Zacher, Pia; Oppermann, Henry; Evenepoel, Lucie; Blanc, Pierre; El Khattabi, Laila; Haque, Neshatul; Dsouza, Nikita R.; Zimmermann, Michael T.; Urrutia, Raul; Klee, Eric W.; Shen, Yiping; Du, Hongzhen; Rappaport, Leonard; Liu, Chang-Mei; Chen, Xiaoli
Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework

使用ClinGen临床有效性框架评估溶酶体疾病中涉及的基因

MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-11-010
OAAI
Groopman, Emily; Mohan, Shruthi; Waddell, Amber; Wilke, Matheus; Fernandez, Raquel; Weaver, Meredith; Chen, Hongjie; Liu, Hongbin; Bali, Deeksha; Baudet, Heather; Clarke, Lorne; Hung, Christina; Mao, Rong; Vairo, Filippo Pinto e; Racacho, Lemuel; Yuzyuk, Tatiana; Craigen, William J.; Goldstein, Jennifer
Prevalence, Penetrance, and Phenotypic Manifestation of Cardiomyopathy-Associated Genetic Variants in the General Population: Insights from a Mayo Clinic Biobank Study

普通人群中与心肌病相关的遗传变异的患病率，外显率和表型表现: 来自Mayo Clinic生物库研究的见解

MAYO CLINIC PROCEEDINGS
IF6.7
2024-11-010
PRE
Figueiral, Marta; Paldino, Alessia; Wilke, Matheus Vernet Machado Bressan; Farris, Joseph D.; Verheijen, Jan; Giudicessi, John R.; Ackerman, Michael J.; Olson, Janet E.; Arroyo, Jennifer; Olson, Rory J.; Klee, Eric W.; Pereira, Naveen L.
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases

单系统疾病患者非诊断性多基因组后外显子组和基因组测序的诊断率

ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2024-05-240
OAAI
Wilke, Matheus V. M. B.; Klee, Eric W.; Dhamija, Radhika; Fervenza, Fernando C.; Thomas, Brittany; Leung, Nelson; Hogan, Marie C.; Hager, Megan M.; Kolbert, Kayla J.; Kemppainen, Jennifer L.; Loftus, Elle C.; Leitzen, Katie M.; Vitek, Carolyn R.; McAllister, Tammy; Lazaridis, Konstantinos N.; Vairo, Filippo Pinto e
Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2023-10-022
OAAI
Wilke, Matheus Vernet Machado Bressan; Poswar, Fabiano; Borelli, Wyllians Vendramini; Michelin Tirelli, Kristiane; Randon, Devora Natalia; Lopes, Franciele Fatima; Pasetto, Fernanda Bender; Sebastiao, Fernanda Medeiros; Iop, Gabrielle Dineck; Faqueti, Larissa; da Silva, Layzon Antonio; Kubaski, Francyne; Schuh, Artur Francisco Schumacher; Giugliani, Roberto; Schwartz, Ida Vanessa Doederlein

研究方向

暂未获取到该数据
F
Filippo Pinto e Vairo
H 指数:29论文数:293被引数:2,899
I
Ida Vanessa Döederlein Schwartz
H 指数:46论文数:613被引数:7,703
J
Jennifer Goldstein
H 指数:32论文数:111被引数:3,972
C
Cristina Brinckmann Oliveira Netto
H 指数:22论文数:172被引数:1,297
E
Eric W. Klee
H 指数:54论文数:461被引数:1.0万
R
Roberto Giugliani
H 指数:80论文数:1,417被引数:2.4万
D
Deeksha Bali
H 指数:47论文数:199被引数:7,874
L
L. Clarke
H 指数:49论文数:269被引数:8,805
H
Hongjie Chen
H 指数:33论文数:216被引数:4,703
S
Shruthi Mohan
H 指数:12论文数:71被引数:694