Matias Wagner

Technical University of Munich

Germany

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Research Interests

Biostatistics

50%

Neurology

90%

Medical Science

100%

Rare Disease

80%

Neurodevelopmental Disorders

40%

Genome-wide Association

30%

Genetic

30%

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Articles19

Clinical heterogeneity within the ALS‐FTD spectrum in a family with a homozygous optineurin mutation

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Year:

2024

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

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Year:

2024

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

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Year:

2024

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease

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Year:

2024

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

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Year:

2023

Episignature analysis of moderate effects and mosaics

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Year:

2023

Epigenetic Association Analyses and Risk Prediction of RLS

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Year:

2023

Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project)

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Year:

2023

A Homozygous PTRHD1 Missense Variant (pArg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism

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Year:

2023

ARF1 -related disorder: Phenotypic and molecular spectrum

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Year:

2023

Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.

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Year:

2022

A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype

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Year:

2022

Clonal Hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.

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Year:

2022

Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases

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Year:

2022

There is more to it than just congenital heart defects – The phenotypic spectrum of TAB2-related syndrome

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Year:

2022

Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.

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Year:

2021

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

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Year:

2021

MATR3 haploinsufficiency and early-onset neurodegeneration

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Year:

2021

A C‐terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR‐associated syndromic microphthalmia

Article Link

Year:

2021

Collaborators13

Wolfgang Löscher

Medical University of Innsbruck

AUSTRIA

Margot Ernst

Associate Professor

Medical University of Vienna Center for Brain Research

AUSTRIA

Filip Tadeusz Koniuszewski

Medical University of Vienna

AUSTRIA

Fiona Jäger

Medical University of Vienna

AUSTRIA

Petra Scholze

Medical University of Vienna Center for Brain Research

AUSTRIA

Ambra Stefani

Medical University of Innsbruck

AUSTRIA

Hakan Cetin

AUSTRIA

Norbert Embacher

AUSTRIA

Nazanin Mirza-Schreiber

Helmholtz Zentrum München Deutsches Forschungszentrum für Umwelt und Gesundheit

GERMANY

Jakob Rath

Medical University of Vienna

AUSTRIA

Elisabeth Graf

Klinikum rechts der Isar der Technischen Universität München

GERMANY

Dominik S. Westphal

Technical University of Munich

GERMANY

Rebecca Burdine

Profesor

Princeton University

UNITED STATES

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