Thierry Nouspikel

Publication Activity (10 Years)

Years Active: 2023-2024
Publications (10 Years): 9

Top Topics

Circulating Tumor Cells

Structural Basis

Top Venues

Scientific reports

Journal of personalized medicine

Clinical genetics

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

Publications

Roberto Ricciardiello, Giulia Forleo, Lina Cipolla, Geraldine van Winckel, Caterina Marconi, Thierry Nouspikel, Thanos D Halazonetis, Omar Zgheib, Simone Sabbioneda
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant. Scientific reports 14 (1) (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)
Roberto Ricciardiello, Giulia Forleo, Lina Cipolla, Geraldine van Winckel, Caterina Marconi, Thierry Nouspikel, Thanos D Halazonetis, Omar Zgheib, Simone Sabbioneda
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant. Scientific reports 14 (1) (2024)
Roberto Ricciardiello, Giulia Forleo, Lina Cipolla, Geraldine van Winckel, Caterina Marconi, Thierry Nouspikel, Thanos D Halazonetis, Omar Zgheib, Simone Sabbioneda
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant. Scientific reports 14 (1) (2024)
Roberto Ricciardiello, Giulia Forleo, Lina Cipolla, Geraldine van Winckel, Caterina Marconi, Thierry Nouspikel, Thanos D Halazonetis, Omar Zgheib, Simone Sabbioneda
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant. Scientific reports 14 (1) (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)
Roberto Ricciardiello, Giulia Forleo, Lina Cipolla, Geraldine van Winckel, Caterina Marconi, Thierry Nouspikel, Thanos D Halazonetis, Omar Zgheib, Simone Sabbioneda
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant. Scientific reports 14 (1) (2024)
Roberto Ricciardiello, Giulia Forleo, Lina Cipolla, Geraldine van Winckel, Caterina Marconi, Thierry Nouspikel, Thanos D Halazonetis, Omar Zgheib, Simone Sabbioneda
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant. Scientific reports 14 (1) (2024)
Siv Fokstuen, Lina Quteineh, Valerie M Schwitzgebel, Bettina Köhler-Ballan, Jean-Louis Blouin, Marc Abramowicz, Thierry Nouspikel
Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage. Clinical genetics (2023)