Publications by authors named "Dimitar N Azmanov"

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Clinical Implementation of RHD NIPT in a Tertiary Obstetric Centre in Western Australia.
Jennifer Leverington, Anastazia Keegan, Dimitar N Azmanov, Jan E Dickinson

Aust N Z J Obstet Gynaecol· November 2025

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Studying Disease-Associated UBE3A Missense Variants Using Enhanced Sampling Molecular Simulations.
Mark Agostino, Fiona McKenzie, Chloe Buck, Karen J Woodward, Vanessa J Atkinson, Dimitar N Azmanov

ACS Omega· July 2022

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Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Leyla Akin, Karine Rizzoti, Louise C Gregory, Beatriz Corredor, Polona Le Quesne Stabej, Dimitar N Azmanov

Genet Med· February 2022

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Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement.
Rebecca E Brereton, Sarah L Nickerson, Karen J Woodward, Tracey Edwards, Soruba Sivamoorthy, Dimitar N Azmanov

Am J Med Genet A· October 2021

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Deletion of and causes abnormal skull morphology and global developmental delay.
Ram Singh, Ana S A Cohen, Cathryn Poulton, Tina Duelund Hjortshøj, Moe Akahira-Azuma, Dimitar N Azmanov

Cold Spring Harb Mol Case Stud· June 2021

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Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.
Raman Kumar, Elizabeth Palmer, Alison E Gardner, Renee Carroll, Siddharth Banka, Dimitar N Azmanov

Front Mol Neurosci· February 2020

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Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.
Mark A Corbett, Clare L van Eyk, Dani L Webber, Stephen J Bent, Morgan Newman, Dimitar N Azmanov

NPJ Genom Med· May 2019

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Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.
Mark A Corbett, Clare L van Eyk, Dani L Webber, Stephen J Bent, Morgan Newman, Dimitar N Azmanov

NPJ Genom Med· December 2018

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Angiopoietin-1 is required for Schlemm's canal development in mice and humans.
Benjamin R Thomson, Tomokazu Souma, Stuart W Tompson, Tuncer Onay, Krishnakumar Kizhatil, Dimitar N Azmanov

J Clin Invest· December 2017

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Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.
Dimitar N Azmanov, Stefan J Siira, Teodora Chamova, Ara Kaprelyan, Velina Guergueltcheva

Hum Mol Genet· October 2016

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Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.
Tomokazu Souma, Stuart W Tompson, Benjamin R Thomson, Owen M Siggs, Krishnakumar Kizhatil, Dimitar N Azmanov

J Clin Invest· July 2016

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Reply: Mutations in TUBB4A and spastic paraplegia.
Teodora Chamova, Dahlia Kancheva, Velina Guergueltcheva, Vanio Mitev, Dimitar N Azmanov

Mov Disord· November 2015

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Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
Ivan S Ivanov, Dimitar N Azmanov, Mariya B Ivanova, Teodora Chamova, Ilyana H Pacheva

Mol Genet Metab· June 2015

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Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
Dahlia Kancheva, Teodora Chamova, Velina Guergueltcheva, Vanio Mitev, Dimitar N Azmanov

Mov Disord· May 2015

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Challenges of diagnostic exome sequencing in an inbred founder population.
Dimitar N Azmanov, Teodora Chamova, Rick Tankard, Vladimir Gelev, Michael Bynevelt

Mol Genet Genomic Med· July 2013

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Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
Velina Guergueltcheva, Dimitar N Azmanov, Dora Angelicheva, Katherine R Smith, Teodora Chamova

Am J Hum Genet· September 2012

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A novel GEFS+ locus on 12p13.33 in a large Roma family.
Bharti Morar, Sashka Zhelyazkova, Dimitar N Azmanov, Melania Radionova, Dora Angelicheva

Epilepsy Res· November 2011

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Focal epilepsy of probable temporal lobe origin in a Gypsy family showing linkage to a novel locus on 7p21.3.
Dimitar N Azmanov, Sashka Zhelyazkova, Melania Radionova, Bharti Morar, Dora Angelicheva

Epilepsy Res· September 2011

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LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.
Dimitar N Azmanov, Stanislava Dimitrova, Laura Florez, Sylvia Cherninkova, Dragomir Draganov

Eur J Hum Genet· March 2011

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Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.
Dimitar N Azmanov, Sashka Zhelyazkova, Petya S Dimova, Melania Radionova, Veneta Bojinova

Epileptic Disord· June 2010

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Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.
Dora Angelicheva, Ivailo Tournev, Velina Guergueltcheva, Violeta Mihaylova, Dimitar N Azmanov

Epilepsia· July 2009

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Further evidence for allelic heterogeneity in Hartnup disorder.
Dimitar N Azmanov, Sonja Kowalczuk, Helen Rodgers, Christiane Auray-Blais, Robert Giguère

Hum Mutat· October 2008

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Persistence of the common Hartnup disease D173N allele in populations of European origin.
Dimitar N Azmanov, Helen Rodgers, Christiane Auray-Blais, Robert Giguère, Charles Bailey

Ann Hum Genet· November 2007

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Profile of chromosomal aberrations in different gestational age spontaneous abortions detected by comparative genomic hybridization.
Dimitar N Azmanov, Tania V Milachich, Boriana M Zaharieva, Gergana I Michailova, Violeta G Dimitrova

Eur J Obstet Gynecol Reprod Biol· April 2007

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