Federico A. Santoni
Lausanne, VD, Switzerland
Last Updated: 09/26/2026
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Found 86 publications
Genetic and transcriptomic signatures of host control in HIV-1 infection.
Journal: Retrovirology
Published: January 10, 2026
Clinical and genetic basis of congenital gonadotropin deficiency.
Journal: Human reproduction open
Published: September 27, 2025
Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study.
Journal: European journal of human genetics : EJHG
Published: July 17, 2025
GenMasterTable: a user-friendly desktop application for filtering, summarising, and visualising large-scale annotated genetic variants.
Journal: BMC bioinformatics
Published: March 26, 2025
Whole genome sequencing and single-cell transcriptomics identify KMT2D inactivation as a potential new driver for pituitary tumors: a case report.
Journal: BJC reports
Published: September 26, 2024
PD-L1 expression in PitNETs: Correlations with the 2022 WHO classification.
Journal: Brain & spine
Published: September 24, 2024
Multiomics unravels the complexity of male obesity: a prospective observational study.
Journal: Journal of translational medicine
Published: September 13, 2024
The genetic cause of neurodevelopmental disorders in 30 consanguineous families.
Journal: Frontiers in medicine
Published: April 28, 2024
pyTWMR: transcriptome-wide Mendelian randomization in python.
Journal: Bioinformatics (Oxford, England)
Published: January 19, 2024
Transcriptomic profiling of murine GnRH neurons reveals developmental trajectories linked to human reproduction and infertility.
Journal: Theranostics
Published: November 03, 2023
Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.
Journal: BMC genomics
Published: October 23, 2023
Last Updated: 09/26/2026