Matias Wagner at Technical University of Munich - Research Interests, Publications & Academic Profile

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

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Year:

2021

Collaborators13

Wolfgang Löscher

Medical University of Innsbruck

AUSTRIA

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Margot Ernst

Associate Professor

Medical University of Vienna Center for Brain Research

AUSTRIA

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Filip Tadeusz Koniuszewski

Medical University of Vienna

AUSTRIA

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Fiona Jäger

Medical University of Vienna

AUSTRIA

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Petra Scholze

Medical University of Vienna Center for Brain Research

AUSTRIA

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Ambra Stefani

Medical University of Innsbruck

AUSTRIA

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Hakan Cetin

AUSTRIA

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Norbert Embacher

AUSTRIA

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Nazanin Mirza-Schreiber

Helmholtz Zentrum München Deutsches Forschungszentrum für Umwelt und Gesundheit

GERMANY

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Jakob Rath

Medical University of Vienna

AUSTRIA

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Elisabeth Graf

Klinikum rechts der Isar der Technischen Universität München

GERMANY

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Dominik S. Westphal

Technical University of Munich

GERMANY

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Rebecca Burdine

Profesor

Princeton University

UNITED STATES

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