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Klinikum rechts der Isar der Technischen Universität München: Munchen, Bayern, DE

(Institute of Human Genetics)
Employment
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Theresa Brunet

Works (11)

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

Nature Genetics
2024-08 | Journal article
Contributors: Axel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa et al.
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Semaphorin heterodimerization in cis regulates membrane targeting and neocortical wiring

Nature Communications
2024-08-16 | Journal article
Contributors: Paraskevi Bessa; Andrew G. Newman; Kuo Yan; Theres Schaub; Rike Dannenberg; Denis Lajkó; Julia Eilenberger; Theresa Brunet; Kathrin Textoris-Taube; Emanuel Kemmler et al.
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Clinical heterogeneity within the ALS‐FTD spectrum in a family with a homozygous optineurin mutation

Annals of Clinical and Translational Neurology
2024-06 | Journal article
Contributors: Tandis Parvizi; Sigrid Klotz; Omar Keritam; Haluk Caliskan; Sophie Imhof; Theresa König; Lukas Haider; Tatjana Traub‐Weidinger; Matias Wagner; Theresa Brunet et al.
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De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

Genetics in Medicine
2024-02 | Journal article
Contributors: Theresa Brunet; Benedikt Zott; Victoria Lieftüchter; Dominic Lenz; Axel Schmidt; Philipp Peters; Robert Kopajtich; Malin Zaddach; Hanna Zimmermann; Irina Hüning et al.
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Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

2023-04-25 | Preprint
Contributors: Axel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa et al.
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Crossref

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

Human Molecular Genetics
2022-07-21 | Journal article
Contributors: Theresa Brunet; Riccardo Berutti; Veronika Dill; Judith S Hecker; Daniela Choukair; Stephanie Andres; Marcus Deschauer; Janine Diehl-Schmid; Martin Krenn; Gertrud Eckstein et al.
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Clinico-genetic findings in 509 frontotemporal dementia patients.

Molecular psychiatry
2021-09-24 | Journal article
Source: Self-asserted source
Theresa Brunet
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De novo variants in neurodevelopmental disorders—experiences from a tertiary care center

Clinical Genetics
2021-07 | Journal article
Contributors: Theresa Brunet; Robert Jech; Melanie Brugger; Reka Kovacs; Bader Alhaddad; Gloria Leszinski; Korbinian M. Riedhammer; Dominik S. Westphal; Isabella Mahle; Katharina Mayerhanser et al.
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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Genetics in Medicine
2021-02 | Journal article
Contributors: Theresa Brunet; Kirsty McWalter; Katharina Mayerhanser; Grace M. Anbouba; Amy Armstrong-Javors; Ingrid Bader; Evan Baugh; Amber Begtrup; Caleb P. Bupp; Bert L. Callewaert et al.
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A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy

Annals of Clinical and Translational Neurology
2021-01 | Journal article
Contributors: Melanie Brugger; Fiona Becker‐Dettling; Theresa Brunet; Tim Strom; Thomas Meitinger; Eberhard Lurz; Ingo Borggraefe; Matias Wagner
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Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder

Annals of Clinical and Translational Neurology
2020-03 | Journal article
Contributors: Theresa Brunet; Milena Radivojkov‐Blagojevic; Peter Lichtner; Verena Kraus; Thomas Meitinger; Matias Wagner
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