Elisabeth Graf at Klinikum rechts der Isar der Technischen Universität München - Research Interests, Publications & Academic Profile

Elisabeth Graf

Klinikum rechts der Isar der Technischen Universität München

Germany

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Research Interests

Neurology

70%

Cell Biology

50%

Medical Science

60%

Rare Disease

50%

Syndromic Disorders

40%

Osteogenesis Imperfecta

30%

Genomic

30%

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Articles16

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

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Year:

2023

Resistance to mesenchymal reprogramming sustains clonal propagation in metastatic breast cancer

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2023

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

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2023

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

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2023

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

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2023

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

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2023

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

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2023

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

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2022

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

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2022

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

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2021

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

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2021

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

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2021

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

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2021

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

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2020

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

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2020

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

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Year:

2020

Collaborators15

Kornelia Neveling

Radboud University Medical Center

NETHERLANDS

Margot Ernst

Associate Professor

Medical University of Vienna Center for Brain Research

AUSTRIA

Mareike Lehmann

Professor of Translational Inflammation Research

Philipps-Universität Marburg

GERMANY

Filip Tadeusz Koniuszewski

Medical University of Vienna

AUSTRIA

Susanne Keipert

Stockholm University

SWEDEN

Elisa Espinet

SPAIN

Fiona Jäger

Medical University of Vienna

AUSTRIA

Petra Scholze

Medical University of Vienna Center for Brain Research

AUSTRIA

Theresa Brunet

GERMANY

Laura Pölsler

Vrije Universiteit Brussel

BELGIUM

Matias Wagner

Technical University of Munich

GERMANY

Jean‐Michel Rozet

FRANCE

Marc Wolf

Klinikum Stuttgart

GERMANY

Dominik S. Westphal

Technical University of Munich

GERMANY

Matej Skorvanek

SLOVAKIA

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