Matias Wagner

Technical University of Munich

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Articles (19)

Collaborators (18)

Wolfgang Löscher

Medical University of Innsbruck

Margot Ernst

Associate Professor

Medical University of Vienna Center for Brain Research

Omar Keritam

Medical University of Vienna

Filip Tadeusz Koniuszewski

Medical University of Vienna

Ekaterina Pataraia

Associated Professor

Medical University of Vienna

Florian Daniel Vogel

Universität Wien

Fiona Jäger

Medical University of Vienna

Petra Scholze

Medical University of Vienna Center for Brain Research

Theresa Brunet

Martin Krenn

Medical University of Vienna

Ambra Stefani

Medical University of Innsbruck

Hakan Cetin

Norbert Embacher

Nazanin Mirza-Schreiber

Helmholtz Zentrum München Deutsches Forschungszentrum für Umwelt und Gesundheit

Jakob Rath

Medical University of Vienna

Elisabeth Graf

Klinikum rechts der Isar der Technischen Universität München

Dominik S. Westphal

Technical University of Munich

Rebecca Burdine

Princeton University

UNITED STATES

Matias Wagner

Research Interests

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Contact this professor

Articles (19)

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

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

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

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

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

Episignature analysis of moderate effects and mosaics

Epigenetic Association Analyses and Risk Prediction of RLS

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

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

ARF1 -related disorder: Phenotypic and molecular spectrum

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

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

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

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

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

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

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

MATR3 haploinsufficiency and early-onset neurodegeneration

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

Collaborators (18)

Wolfgang Löscher

Margot Ernst

Omar Keritam

Filip Tadeusz Koniuszewski

Ekaterina Pataraia

Florian Daniel Vogel

Fiona Jäger

Petra Scholze

Theresa Brunet

Martin Krenn

Ambra Stefani

Hakan Cetin

Norbert Embacher

Nazanin Mirza-Schreiber

Jakob Rath

Elisabeth Graf

Dominik S. Westphal

Rebecca Burdine

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