Theresa Brunet

Germany

Research Interests

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Professors in Germany Professors in Biostatistics Biostatistics professors in Germany

Articles (11)

Year:

2025

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2025

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2024

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2024

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2024

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2024

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2023

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2022

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2021

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2021

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2020

Collaborators (12)

Meghna Ahuja Bhasin

University Hospital Bonn

GERMANY

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Ludger Schöls

Section head

Eberhard Karls Universität Tübingen

GERMANY

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Sugirthan Sivalingam

GERMANY

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Felix Boschann

GERMANY

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Omar Keritam

Medical University of Vienna

AUSTRIA

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Ernest Turro

Icahn School of Medicine at Mount Sinai

UNITED STATES

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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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Catharina Schütz

Academic Staff, full professor

TUD Dresden University of Technology

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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Matej Skorvanek

SLOVAKIA

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Theresa Brunet

Research Interests

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Articles (11)

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

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

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

Semaphorin heterodimerization in cis regulates membrane targeting and neocortical wiring

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

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

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

Clinico-genetic findings in 509 frontotemporal dementia patients.

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

Collaborators (12)

Meghna Ahuja Bhasin

Ludger Schöls

Sugirthan Sivalingam

Felix Boschann

Omar Keritam

Ernest Turro

Martin Krenn

Matias Wagner

Catharina Schütz

Jakob Rath

Elisabeth Graf

Matej Skorvanek

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