Simon Schnaiter
Innsbruck, 6020, Austria
Last Updated: 09/26/2026
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Found 19 publications
The Tyrolean Founder MLH1 Variant c.836T>G Causes Lynch Syndrome Due to a Leaky Splice Effect.
Journal: Biomolecules
Published: July 02, 2026
Longitudinal kinetics of human epididymis protein 4 in recurrent advanced ovarian carcinoma treated with platinum-based chemotherapy: mathematical modeling and prognostic implications.
Journal: International journal of gynecological cancer : official journal of the International Gynecological Cancer Society
Published: May 21, 2026
Highlighting the molecular refinement of NSMP endometrial cancer in a case of mesonephric-like adenocarcinoma.
Journal: Gynecologic oncology reports
Published: January 19, 2026
Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity.
Journal: American journal of human genetics
Published: December 23, 2025
Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries.
Journal: European journal of human genetics : EJHG
Published: August 07, 2025
Integrating Polygenic Scores into Multifactorial Breast Cancer Risk Assessment: Insights from the First Year of Clinical Implementation in Western Austria.
Journal: Cancers
Published: May 30, 2025
BRCA loss of function including BRCA1 DNA-methylation, but not BRCA-unrelated homologous recombination deficiency, is associated with platinum hypersensitivity in high-grade ovarian cancer.
Journal: Clinical epigenetics
Published: August 02, 2024
Pembrolizumab and olaparib in a cisplatin-refractory testicular cancer patient with a high TMB: first case report.
Journal: Therapeutic advances in urology
Published: May 28, 2024
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 30, 2023
Gonadal and gonadosomatic mosaicism in NF1: report of two families.
Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
Published: July 06, 2023
Last Updated: 09/26/2026