Mihail R. Halachev

Crewe Road
Edinburgh, SCT, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 22 publications

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.

Journal: European journal of human genetics : EJHG

Published: December 22, 2025

Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.

Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.

Journal: American journal of human genetics

Published: November 01, 2024

Autophagy disruption and mitochondrial stress precede photoreceptor necroptosis in multiple mouse models of inherited retinal disorders.

Autophagy disruption and mitochondrial stress precede photoreceptor necroptosis in multiple mouse models of inherited retinal disorders.

Journal: Nature communications

Published: July 29, 2024

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.

Journal: Human mutation

Published: May 25, 2024

Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.

Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.

Journal: Pediatric pulmonology

Published: March 22, 2024

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.

Journal: Journal of medical genetics

Published: March 12, 2023

Regionally enriched rare deleterious exonic variants in the UK and Ireland.

Regionally enriched rare deleterious exonic variants in the UK and Ireland.

Journal: Nature communications

Published: September 27, 2022

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.

Journal: PloS one

Published: April 14, 2021

Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions.

Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions.

Journal: PLoS genetics

Published: June 12, 2019

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Journal: American journal of human genetics

Published: May 24, 2019

An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort.

An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort.

Journal: Scientific reports

Published: February 06, 2019

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.

Journal: Nature communications

Published: August 15, 2018

Showing 1-12 of 22

Last Updated: 09/26/2026