Andrea Gangfuß (Andrea Gangfuss)

ORCID

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 10

Top Venues

American journal of medical genetics. Part A

Viruses

Molecular genetics & genomic medicine

Nature medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Andreas Unger, Andreas Roos, Andrea Gangfuß, Andreas Hentschel, Dieter Gläser, Karsten Krause, Kristina Doering, Ulrike Schara-Schmidt, Sabine Hoffjan, Matthias Vorgerd, Anne-Katrin Guettsches
Microscopic and Biochemical Hallmarks of BICD2 -Associated Muscle Pathology toward the Evaluation of Novel Variants. International journal of molecular sciences 24 (7) (2023)
Sarah C Goretzki, Maire Brasseler, Burcin Dogan, Tom Hühne, Daniel Bernard, Anne Schönecker, Mathis Steindor, Andrea Gangfuß, Adela Della Marina, Ursula Felderhoff-Müser, Christian Dohna-Schwake, Nora Bruns
High Prevalence of Alternative Diagnoses in Children and Adolescents with Suspected Long COVID-A Single Center Cohort Study. Viruses 15 (2) (2023)
Sarah C Goretzki, Maire Brasseler, Burcin Dogan, Tom Hühne, Daniel Bernard, Anne Schönecker, Mathis Steindor, Andrea Gangfuß, Adela Della Marina, Ursula Felderhoff-Müser, Christian Dohna-Schwake, Nora Bruns
High Prevalence of Alternative Diagnoses in Children and Adolescents with Suspected Long COVID-A Single Center Cohort Study. Viruses 15 (2) (2023)
Andrea Gangfuß, Andreas Hentschel, Nina Rademacher, Albert Sickmann, Burkhard Stüve, Rita Horvath, Claudia Gross, Nicolai Kohlschmidt, Fabian Förster, Angela Abicht, Anne Schänzer, Ulrike Schara-Schmidt, Andreas Roos, Adela Della Marina
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease. Human mutation 43 (4) (2022)
Heike Kölbel, Florian Kraft, Andreas Hentschel, Artur Czech, Andrea Gangfuß, Payam Mohassel, Chi Nguyen, Werner Stenzel, Ulrike Schara-Schmidt, Corinna Preuße, Andreas Roos
New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1. Genes 13 (5) (2022)
Frederik Braun, Andrea Gangfuß, Petra Stöbe, Tobias B Haack, Bernd Schweiger, Andreas Roos, Ulrike Schara
Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process. Molecular genetics & genomic medicine (2021)
Andrea Gangfuß, Gökhan Yigit, Janine Altmüller, Peter Nürnberg, Johanna Christina Czeschik, Bernd Wollnik, Nina Bögershausen, Peter Burfeind, Dagmar Wieczorek, Frank Kaiser, Andreas Roos, Heike Kölbel, Ulrike Schara-Schmidt, Alma Kuechler
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study. American journal of medical genetics. Part A 185 (4) (2021)
Andrea Gangfuß, Hanns Lochmüller, Ana Töpf, Emily O'Heir, Rita Horvath, Heike Kölbel, Bernd Schweiger, Ulrike Schara-Schmidt, Andreas Roos
A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents. American journal of medical genetics. Part A (2021)
Andrea Gangfuß, Artur Czech, Andreas Hentschel, Ute Münchberg, Rita Horvath, Ana Töpf, Emily O'Heir, Hanns Lochmüller, Florian Stehling, Cordula Kiewert, Albert Sickmann, Alma Kuechler, Frank J Kaiser, Heike Kölbel, Jon Christiansen, Ulrike Schara-Schmidt, Andreas Roos
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement. The Journal of pathology (2021)
Payam Mohassel, Sandra Donkervoort, Museer A Lone, Matthew Nalls, Kenneth Gable, Sita D Gupta, A Reghan Foley, Ying Hu, Jonas Alex Morales Saute, Ana Lucila Moreira, Fernando Kok, Alessandro Introna, Giancarlo Logroscino, Christopher Grunseich, Alec R Nickolls, Naemeh Pourshafie, Sarah B Neuhaus, Dimah Saade, Andrea Gangfuß, Heike Kölbel, Zoe Piccus, Claire E Le Pichon, Chiara Fiorillo, Cindy V Ly, Ana Töpf, Lauren Brady, Sabine Specht, Aliza Zidell, Helio Pedro, Eric Mittelmann, Florian Patrick Thomas, Katherine R Chao, Chamindra G Konersman, Megan T Cho, Tracy Brandt, Volker Straub, Anne M Connolly, Ulrike Schara, Andreas Roos, Mark Tarnopolsky, Ahmet Hoke, Robert H Brown, Chia-Hsueh Lee, Thorsten Hornemann, Teresa M Dunn, Carsten G Bonnemann
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis. Nature medicine 27 (7) (2021)

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Publication Activity (10 Years)

Top Topics

Top Venues

Andrea Gangfuß (Andrea Gangfuss)