Sergey Oreshkov
Lausanne, VD 1004, Switzerland
Last Updated: 09/26/2026
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Found 10 publications
Expanding the Genetic Landscape of Congenital Stationary Night Blindness Through the Analysis of Consanguineous Pakistani Families.
Journal: Genes
Published: March 05, 2026
Genetic and transcriptomic signatures of host control in HIV-1 infection.
Journal: Retrovirology
Published: January 10, 2026
Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix-Saguenay type in two Pakistani patients.
Journal: Human genome variation
Published: October 13, 2025
A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family.
Journal: Human genome variation
Published: September 29, 2025
Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing.
Journal: International journal of molecular sciences
Published: January 17, 2025
ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 15, 2024
A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family.
Journal: Ophthalmic genetics
Published: November 21, 2024
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
pyTWMR: transcriptome-wide Mendelian randomization in python.
Journal: Bioinformatics (Oxford, England)
Published: January 19, 2024
When less is more: sketching with minimizers in genomics.
Journal: Genome biology
Published: September 15, 2023
Showing 1-10 of 10
Last Updated: 09/26/2026