Elisabeth Graf

Klinikum rechts der Isar der Technischen Universität München

Germany

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Articles (16)

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2023

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2023

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2023

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2023

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2023

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2023

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2022

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2022

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2021

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2021

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2021

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2021

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2020

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2020

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2020

Collaborators (21)

Kornelia Neveling

Radboud University Medical Center

NETHERLANDS

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Margot Ernst

Associate Professor

Medical University of Vienna Center for Brain Research

AUSTRIA

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Omar Keritam

Medical University of Vienna

AUSTRIA

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Mareike Lehmann

Professor of Translational Inflammation Research

Philipps-Universität Marburg

GERMANY

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Filip Tadeusz Koniuszewski

Medical University of Vienna

AUSTRIA

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Susanne Keipert

Stockholm University

SWEDEN

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Florian Daniel Vogel

Universität Wien

AUSTRIA

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Elisa Espinet

SPAIN

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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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Ejona Rusha

Head of Core Facility

Helmholtz Zentrum München

GERMANY

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Theresa Brunet

GERMANY

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Laura Pölsler

Vrije Universiteit Brussel

BELGIUM

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Martin Krenn

Medical University of Vienna

AUSTRIA

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Matias Wagner

Technical University of Munich

GERMANY

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Beate Hagl

University of Augsburg

GERMANY

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Jean‐Michel Rozet

FRANCE

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Jakob Rath

Medical University of Vienna

AUSTRIA

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Marc Wolf

Klinikum Stuttgart

GERMANY

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Dominik S. Westphal

Technical University of Munich

GERMANY

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Matej Skorvanek

SLOVAKIA

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Elisabeth Graf

Research Interests

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Articles (16)

The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome

Resistance to mesenchymal reprogramming sustains clonal propagation in metastatic breast cancer

Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.

Challenges in Establishing the Diagnosis of <i>PRRT2</i>-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch.

De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.

Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.

TAOK1-related neurodevelopmental disorder: A new differential diagnosis for childhood-onset tremor?

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.

Rescue of STAT3 Function in Hyper-IgE Syndrome Using Adenine Base Editing.

Author Correction: Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice.

De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.

Identification and characterization of distinct brown adipocyte subtypes in C57BL/6J mice.

Monogenic variants in dystonia: an exome-wide sequencing study.

Collaborators (21)

Kornelia Neveling

Margot Ernst

Omar Keritam

Mareike Lehmann

Filip Tadeusz Koniuszewski

Susanne Keipert

Florian Daniel Vogel

Elisa Espinet

Fiona Jäger

Petra Scholze

Ejona Rusha

Theresa Brunet

Laura Pölsler

Martin Krenn

Matias Wagner

Beate Hagl

Jean‐Michel Rozet

Jakob Rath

Marc Wolf

Dominik S. Westphal

Matej Skorvanek

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