Thierry Nouspikel

5PUBLICATIONS
21CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Epidemiological modellingFoetal development and medicine
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Publications (5)

|Jan 21, 2026
Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Omar Zgheib, Thomas Rio-Frio, Michel Guipponi

|Dec 10, 2025
Fetal Fraction Signatures: A Quality Control Tool to Detect Potentially Confounding Situations in NonInvasive Prenatal Diagnosis of Monogenic Conditions.

Jean-Louis Blouin, Claudine Rieubland, Thierry Nouspikel

|Jun 27, 2024
SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.

Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti

|Jan 11, 2024
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant.

Roberto Ricciardiello, Giulia Forleo, Lina Cipolla

|Jul 12, 2023
Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage.

Siv Fokstuen, Lina Quteineh, Valérie M Schwitzgebel

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Frequent Collaborators

2 joint publications

Omar Zgheib

1 joint publications

Siv Fokstuen

1 joint publications

Valérie M Schwitzgebel

1 joint publications

Jean-Louis Blouin