Publications by authors named "Mihail Halachev"

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Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.
Morad Ansari, Mihail Halachev, David Parry, Jose L Campos, Elston N D'Souza

Hum Mutat· July 2025

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Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.
Shona M Kerr, Lucija Klaric, Marisa D Muckian, Kiera Johnston, Camilla Drake, Mihail Halachev

Am J Hum Genet· April 2025

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Autophagy disruption and mitochondrial stress precede photoreceptor necroptosis in multiple mouse models of inherited retinal disorders.
Fay Newton, Mihail Halachev, Linda Nguyen, Lisa McKie, Pleasantine Mill

Nat Commun· April 2025

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Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.
Holly A Black, Sophie Marion de Proce, Jose L Campos, Alison Meynert, Mihail Halachev

Pediatr Pulmonol· December 2024

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Regionally enriched rare deleterious exonic variants in the UK and Ireland.
Mihail Halachev, Viktoria-Eleni Gountouna, Alison Meynert, Gannie Tzoneva, Alan R Shuldiner

Nat Commun· October 2024

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Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
Hildegard Nikki Hall, David Parry, Mihail Halachev, Kathleen A Williamson, Kevin Donnelly

J Med Genet· February 2024

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Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.
Hemant Bengani, Detelina Grozeva, Lambert Moyon, Shipra Bhatia, Susana R Louros, Mihail Halachev

PLoS One· December 2021

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Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
Stuart Aitken, Helen V Firth, Jeremy McRae, Mihail Halachev, Usha Kini

Am J Hum Genet· November 2019

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Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions.
Mihail Halachev, Alison Meynert, Martin S Taylor, Veronique Vitart, Shona M Kerr

PLoS Genet· November 2019

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An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort.
Shona M Kerr, Lucija Klaric, Mihail Halachev, Caroline Hayward, Thibaud S Boutin

Sci Rep· July 2019

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Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.
Anja Thormann, Mihail Halachev, William McLaren, David J Moore, Victoria Svinti

Nat Commun· May 2019

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ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
Mark T Handley, Kaalak Reddy, Jimi Wills, Elisabeth Rosser, Archith Kamath, Mihail Halachev

PLoS Genet· March 2019

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A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.
Joe Rainger, Kathleen A Williamson, Dinesh C Soares, Julia Truch, Dominic Kurian, Mihail Halachev

Hum Mutat· August 2017

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Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis.
Carol-Anne Martin, Jennie E Murray, Paula Carroll, Andrea Leitch, Karen J MacKenzie, Mihail Halachev

Genes Dev· May 2017

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Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.
Carol-Anne Martin, Jennie E Murray, Paula Carroll, Andrea Leitch, Karen J Mackenzie, Mihail Halachev

Genes Dev· October 2016

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TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
Margaret E Harley, Olga Murina, Andrea Leitch, Martin R Higgs, Louise S Bicknell, Mihail Halachev

Nat Genet· January 2016

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Genomic epidemiology of a protracted hospital outbreak caused by multidrug-resistant Acinetobacter baumannii in Birmingham, England.
Mihail R Halachev, Jacqueline Z-M Chan, Chrystala I Constantinidou, Nicola Cumley, Craig Bradley

Genome Med· November 2014

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HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.
Christine P Diggle, Daniel J Moore, Girish Mali, Petra zur Lage, Aouatef Ait-Lounis, Mihail R Halachev

PLoS Genet· September 2014

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Defining bacterial species in the genomic era: insights from the genus Acinetobacter.
Jacqueline Z-M Chan, Mihail R Halachev, Nicholas J Loman, Chrystala Constantinidou, Mark J Pallen

BMC Microbiol· December 2012

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High-throughput bacterial genome sequencing: an embarrassment of choice, a world of opportunity.
Nicholas J Loman, Chrystala Constantinidou, Jacqueline Z M Chan, Mihail Halachev, Martin Sergeant

Nat Rev Microbiol· September 2012

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Calculating orthologs in bacteria and Archaea: a divide and conquer approach.
Mihail R Halachev, Nicholas J Loman, Mark J Pallen

PLoS One· April 2012

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Whole-genome sequence of the emerging pathogen Mycobacterium abscessus strain 47J26.
Jacqueline Chan, Mihail Halachev, Emma Yates, Grace Smith, Mark Pallen

J Bacteriol· January 2012

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