André Schaller

Scopus Author ID ResearcherID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 6

Top Topics

Intellectual Disability

Top Venues

Journal of personalized medicine

European journal of human genetics : EJHG

Journal of medical genetics

BMC medical genetics

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

Publications

Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset, Samuel Koller, Fabienne Maurer, Stéphanie Meier, Thierry Nouspikel, Javier Sanz, Christiane Zweier, Marc Abramowicz, Wolfgang Berger, Sven Cichon, André Schaller, Andrea Superti-Furga, Valérie Barbié, Anita Rauch
SwissGenVar : A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland. Journal of personalized medicine 14 (6) (2024)
Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset, Samuel Koller, Fabienne Maurer, Stéphanie Meier, Thierry Nouspikel, Javier Sanz, Christiane Zweier, Marc Abramowicz, Wolfgang Berger, Sven Cichon, André Schaller, Andrea Superti-Furga, Valérie Barbié, Anita Rauch
SwissGenVar : A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland. Journal of personalized medicine 14 (6) (2024)
Ricardo Di Lazzaro Filho, Guilherme Lopes Yamamoto, Tiago J Silva, Leticia A Rocha, Bianca D W Linnenkamp, Matheus Augusto Araujo Castro, Deborah Bartholdi, André Schaller, Tosso Leeb, Samantha Kelmann, Claudia Y Utagawa, Carlos E Steiner, Leandra Steinmetz, Rachel Sayuri Honjo, Chong Ae Kim, Lisa Wang, Raphaël Abourjaili-Bilodeau, Philippe M Campeau, Matthew L Warman, Maria Rita Passos-Bueno, Nicolas C Hoch, Debora Romeo Bertola
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. Journal of medical genetics (2023)
Núria Camats-Tarruella, Mónica Fernández-Cancio, Laura Audí, André Schaller, Christa E Flück
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? European journal of human genetics : EJHG 26 (9) (2018)
Poorya Amini, Darko Stojkov, Andrea Felser, Christopher B Jackson, Carolina Courage, André Schaller, Laurent Gelman, María Eugenia Soriano, Jean-Marc Nuoffer, Luca Scorrano, Charaf Benarafa, Shida Yousefi, Hans-Uwe Simon
Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production. Nature communications 9 (1) (2018)
Ramona Bolognini, Christina Gerth-Kahlert, Mathias Abegg, Deborah Bartholdi, Nicolas Mathis, Veit Sturm, Sabina Gallati, André Schaller
Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing. BMC medical genetics 18 (1) (2017)