Theresa Brunet - Institute of Human Genetics, Technical University of Munich

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论文共 78 篇作者统计合作学者相似作者

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Combined Genomics and Proteomics Unveils Elusive Variants and Vast Aetiologic Heterogeneity in Dystonia

Michael Zech,Ivana Dzinovic,Matej Skorvanek,Philip Harrer,Jan Necpal,Robert Kopajtich,Volker Kittke,Erik Tilch, Chen Zhao,Eugenia Tsoma, Ugo Sorrentino,Elisabetta Indelicato, Antonia Stehr, Alice Saparov,Lucia Abela,Miriam Adamovicova, Alexandra Afenjar,Birgit Assmann,Janette Baloghova, Matthias Baumann,Riccardo Berutti, Zuzana Brezna,Melanie Brugger,Theresa Brunet,Benjamin Cogne, Isabel Colangelo,Erin Conboy, Felix Distelmaier,Matthias Eckenweiler,Barbara Garavaglia,Arie Geerlof,Elisabeth Graf,Annette Hackenberg, Denisa Harvanova,Bernhard Haslinger,Petra Havrankova,Georg F Hoffmann,Wibke G Janzarik,Boris Keren,Miriam Kolnikova, Konstantinos Kolokotronis, Zuzana Kosutzka,Anne Koy,Martin Krenn,Magdalena Krygier, Katarina Kusikova, Oliver Maier,Thomas Meitinger,Christian Mertes,Ivan Milenkovic,Edoardo Monfrini, Andre Santos Dias Mourao,Thomas Musacchio,Mathilde Nizon,Miriam Ostrozovicova, Martin Pavlov, Iva Prihodova,Irena Rektorova,Luigi M Romito, Barbora Rybanska,Ariane Sadr-Nabavi, Susanne Schwenger,Ali Shoeibi, Alexandra Sitzberger,Dmitrii Smirnov,Jana Svantnerova, Raushana Tautanova,Sandra P Toelle,Olga Ulmanova,Francesco Vetrini,Katharina Vill, Matias Wagner,David Weise,Giovanna Zorzi,Alessio Di Fonzo, Konrad Oexle, Steffen Berweck,Volker Mall,Sylvia Boesch,Barbara Schormair, Holger Prokisch, Robert Jech,Juliane Winkelmann

Brain a journal of neurology (2025)

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Variants That Get Straight to Your Heart - Cardiogenetic Secondary Findings in Exome Sequencing

Kirsten Wenderholm,Theresa Brunet,Elisabeth Graf, Marie Arens,Eimo Martens,Juliane Winkelmann,Julia Hoefele,Dominik S. Westphal

GENE (2025)

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De Novo Variants in RYBP Are Associated with a Severe Neurodevelopmental Disorder and Congenital Anomalies

Monika Weisz-Hubshman,Lindsay C. Burrage,Sharayu V. Jangam,Jill A. Rosenfeld,Sandra von Hardenberg, Anke Bergmann,Manuela Friederike Richter,Malgorzata Rydzanicz,Rafal Ploski,Agnieszka Stembalska,Wendy K. Chung,Rebecca R. Hernan, Foong Y. Lim,Theresa Brunet,Steffen Syrbe,Boris Keren,Solveig Heide,David R. Murdock,Hongzheng Dai,Fan Xia

Genetics in Medicinepp.101369, (2025)

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DNA-binding Affinity and Specificity Determine the Phenotypic Diversity in BCL11B-related Disorders

Ivana Lessel,Anja Baresic,Ivan K. Chinn, Jonathan May, Anu Goenka, Kate E. Chandler,Jennifer E. Posey,Alexandra Afenjar, Luisa Averdunk,Maria Francesca Bedeschi,Thomas Besnard, Rae Brager,Lauren Brick, Melanie Brugger,Theresa Brunet, Susan Byrne, Oscar de la Calle-Martín,Valeria Capra, Paul Cardenas, Céline Chappé

The American Journal of Human Genetics (2025)

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De Novo Variants in PPFIA2 in Individuals with Neurodevelopmental Disorders - Evidence for the First Α-Liprinopathy

Theresa Brunet,Michael Zech,Ulrich Schatz,Miriam Adamovicova,Matias Wagner,Elisabeth Graf,Riccardo Berutti, Heike Weigand-Brunnhoelzl,Robert Jech,Thomas Meitinger,Juliane Winkelmann,Melanie Brugger

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 467-467

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Further Delineation of the SCAF4-associated Neurodevelopmental Disorder

Cosima M. Schmid,Anne Gregor,Anna Ruiz, Carmen Manso Bazus,Isabella Herman, Farah Ammouri,Urania Kotzaeridou,Vanda Mcniven,Lucie Dupuis,Katharina Steindl,Anais Begemann,Anita Rauch, Aude-Annick Suter,Bertrand Isidor,Sandra Mercier,Mathilde Nizon,Benjamin Cogne,Wallid Deb,Thomas Besnard,Tobias B. Haack,Ruth J. Falb,Amelie J. Mueller,Tobias Linden,Chad R. Haldeman-Englert,Charlotte W. Ockeloen,Francesca Mattioli,Alexandre Reymond,Nazia Ibrahim,Shagufta Naz,Elodie Lacaze,Jennifer A. Bassetti,Julia Hoefele,Theresa Brunet,Korbinian M. Riedhammer, Houda Z. Elloumi,Richard Person,Fanggeng Zou, Juliette J. Kahle,Kirsten Cremer,Axel Schmidt,Marie-Ange Delrue,Pedro M. Almeida,Fabiana Ramos,Siddharth Srivastava, Aisling Quinlan,Stephen Robertson,Eva Manka,Alma Kuechler,Stephanie Spranger,Malgorzata J. M. Nowaczyk,Reem M. Elshafie,Hind Alsharhan, Paul R. Hillman, Leslie A. Dunnington,Hilde M. H. Braakman,Shane Mckee, Angelica Moresco, Andrea-Diana Ignat,Ruth Newbury-Ecob,Guillaume Banneau,Olivier Patat, Jeffrey Kuerbitz, Susan Rzucidlo, Susan S. Sell,Patricia Gordon,Sarah Schuhmann,Andre Reis, Yosra Halleb,Radka Stoeva,Boris Keren,Zainab Al Masseri,Zeynep Tuemer,Sophia Hammer-Hansen, Sofus Krueger Solyst, Connolly G. Steigerwald,Nicolas J. Abreu, Helene Faust, Amica Mueller-Nedebock,Frederic Tran Mau-Them,Heinrich Sticht,Christiane Zweier

EUROPEAN JOURNAL OF HUMAN GENETICS (2024)

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Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago

Maureen Jacob,Melanie Brugger,Stephanie Andres,Matias Wagner,Elisabeth Graf,Riccardo Berutti,Erik Tilch, Martin Pavlov,Katharina Mayerhanser,Julia Hoefele,Thomas Meitinger,Juliane Winkelmann,Theresa Brunet

Neuropediatrics（2024）

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Exome Sequencing (ES) of a Pediatric Cohort with Chronic Endocrine Diseases: a Single-Center Study (within the Framework of the TRANSLATE-NAMSE Project)

Sebastian Gippert,Matias Wagner,Theresa Brunet, Riccardo Berruti,Melanie Brugger,Eva M. C. Schwaibold,Tobias B. Haack,Georg F. Hoffmann,Markus Bettendorf,Daniela Choukair

ENDOCRINEno. 1 (2024): 444-453

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SNUPN Deficiency Causes a Recessive Muscular Dystrophy Due to RNA Mis-Splicing and ECM Dysregulation

Marwan Nashabat,Nasrinsadat Nabavizadeh,Hilal Pırıl Saraçoğlu,Burak Sarıbaş,Şahin Avcı,Esra Börklü,Emmanuel Beillard,Elanur Yılmaz, Seyide Ecesu Uygur,Cavit Kerem Kayhan,Luca Bosco, Zeynep Bengi Eren,Katharina Steindl,Manuela Friederike Richter,Guney Bademci,Anita Rauch,Zohreh Fattahi,Maria Lucia Valentino,Anne M. Connolly,Angela Bahr, Laura Viola,Anke Katharina Bergmann,Maria Eugenia Rocha,LeShon Peart, Derly Liseth Castro-Rojas,Eva Bültmann,Suliman Khan, Miriam Liliana Giarrana,Raluca Ioana Teleanu,Joanna Michelle Gonzalez,Antonella Pini,Ines Sophie Schädlich,Katharina Vill,Melanie Brugger,Stephan Zuchner,Andreia Pinto,Sandra Donkervoort,Stephanie Ann Bivona,Anca Riza,Ioana Streata,Dieter Gläser,Carolina Baquero-Montoya, Natalia Garcia-Restrepo,Urania Kotzaeridou,Theresa Brunet,Diana Anamaria Epure,Aida Bertoli-Avella,Ariana Kariminejad,Mustafa Tekin,Sandra von Hardenberg,Carsten G. Bönnemann,Georg M. Stettner,Ginevra Zanni,Hülya Kayserili,Zehra Piraye Oflazer,Nathalie Escande-Beillard

NATURE COMMUNICATIONS（2024）

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