Publications by authors named "Matheus Wilke"

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Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.
Matheus Vernet Machado Bressan Wilke, Deepak Panwar, Johannes M Verheijen, Saori Umeshita, Sarah Allen Thurman

Am J Med Genet A· January 2026

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Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic Medicine.
Alexa Dickson, Kelsey R Cone, Barbara K Fortini, Jennifer Goldstein, Michelle L Thompson, Matheus V M B Wilke

J Mol Diagn· October 2025

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Prevalence, Penetrance, and Phenotypic Manifestation of Cardiomyopathy-Associated Genetic Variants in the General Population: Insights from a Mayo Clinic Biobank Study.
Marta Figueiral, Alessia Paldino, Matheus Vernet Machado Bressan Wilke, Joseph D Farris, Jan Verheijen

Mayo Clin Proc· November 2024

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Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework.
Emily Groopman, Shruthi Mohan, Amber Waddell, Matheus Wilke, Raquel Fernandez

Mol Genet Metab· November 2024

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Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework.
Emily Groopman, Shruthi Mohan, Amber Waddell, Matheus Wilke, Raquel Fernandez

medRxiv· October 2024

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Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.
Matheus V M B Wilke, Eric W Klee, Radhika Dhamija, Fernando C Fervenza, Brittany Thomas

Orphanet J Rare Dis· May 2024

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Nuclear Abnormalities in p.(Glu2Lys) Variant Segregating with -Associated Cardiocutaneous Progeria Syndrome.
Matheus V M B Wilke, Myra Wick, Tanya L Schwab, Rodrigo Tzovenos Starosta, Karl J Clark

Genes (Basel)· January 2024

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A somatic splice-site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report.
Matheus V M B Wilke, Lisa Schimmenti, Madeline Q R Lopour, Megha M Tollefson, Eric W Klee

Mol Genet Genomic Med· December 2023

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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.
Matheus Vernet Machado Bressan Wilke, Fabiano Poswar, Wyllians Vendramini Borelli, Kristiane Michelin Tirelli, Dévora Natalia Randon

Orphanet J Rare Dis· October 2023

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A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study.
Matheus Vernet Machado Bressan Wilke, Bibiana Mello de Oliveira, Rodrigo Tzovenos Starosta, Marwan Shinawi, Liang Lu

Biomedicines· January 2023

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Expanding the phenotype of DNAJC30-associated Leigh syndrome.
Marta Zawadzka, Magdalena Krygier, Małgorzata Pawłowicz, Matheus Vernet Machado Bressan Wilke, Karolina Rutkowska

Clin Genet· November 2022

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Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report.
Matheus V M B Wilke, Eva Morava-Kozicz, Matthew J Koster, Christopher T Schmitz, Shannon Kaye Foster

BMC Rheumatol· August 2022

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Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy.
Francyne Kubaski, Zackary M Herbst, Maira Graeff Burin, Kristiane Michelin-Tirelli, Franciele B Trapp, Matheus V M B Wilke

JIMD Rep· March 2022

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Two different presentations of de novo variants of CSNK2B: two case reports.
Matheus V M B Wilke, Bibiana M Oliveira, Alessandra Pereira, Maria Juliana R Doriqui, Fernando Kok

J Med Case Rep· January 2022

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Spontaneous Pubertal Onset in a Male Patient With Mixed Gonadal Dysgenesis With Mosaicism 45,X/ 46, X, mar (Y)/ 47,X,mar(Y),+mar(Y) - Pediatric Case Report.
Matheus Vernet Machado Bressan Wilke, Eduardo Corrêa Costa, Julio Cesar Loguercio Leite, Iara Regina Siqueira Lucena, Tatiana Prade Hemesath

Urology· December 2021

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SARS-CoV-2 pandemic in the Brazilian community of rare diseases: A patient reported survey.
Ida Vanessa Doederlein Schwartz, Dévora Natalia Randon, Natan Monsores, Carolina Fischinger Moura de Souza, Dafne Dain Gandelman Horovitz, Matheus Vernet Machado Bressan Wilke

Am J Med Genet C Semin Med Genet· September 2021

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Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.
Matheus V M B Wilke, Alícia D Dornelles, Artur S Schuh, Filippo P Vairo, Suelen P Basgalupp

Orphanet J Rare Dis· May 2019

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Osteopontin: a potential biomarker of Gaucher disease.
Filippo Vairo, Fernanda Sperb-Ludwig, Matheus Wilke, Kristiane Michellin-Tirelli, Cristina Netto

Ann Hematol· July 2015

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Does enzyme replacement therapy enhance brain-derived neurotrophic factor expression in Gaucher disease?
Filippo Vairo, Fernanda Sperb-Ludwig, Matheus Wilke, Kristiane Michellin-Tirelli, Cristina Netto

J Neuroimmunol· June 2015

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Brain-derived neurotrophic factor expression increases after enzyme replacement therapy in Gaucher disease.
Filippo Vairo, Fernanda Sperb-Ludwig, Matheus Wilke, Kristiane Michellin-Tirelli, Cristina Netto

J Neuroimmunol· January 2015

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Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment.
Filippo Vairo, Cristina Netto, Alicia Dorneles, Suzana Mittelstadt, Matheus Wilke

JIMD Rep· August 2013

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