Dimitar Azmanov

Dr

  • The University of Western Australia (M576), 35 Stirling Highway,

    6009 Perth

    Australia

  • 484 Citations
  • 11 h-Index
20042019

Research output per year

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Research Output

  • 484 Citations
  • 11 h-Index
  • 20 Article
  • 2 Review article
  • 1 Abstract/Meeting Abstract
2004

Apoptosis can be induced by Lontrel

Gateva, SP., Azmanov, D., Jovtchev, G., Stergios, M., Arsov, T. & Georgieva, V., 2004, In : COMPTES RENDUS DE L ACADEMIE BULGARE DES SCIENCES. 57, 9, p. 51-56

Research output: Contribution to journalArticle

2007

Persistence of the common Hartnup disease D173N allele in populations of European origin

Azmanov, D., Rodgers, HJ., Auray-Blais, C., Giguère, R., Bailey, C., Broër, S., Rasko, JEJ. & Cavanaugh, JA., 2007, In : Annals of Human Genetics. 71, 6, p. 755-61

Research output: Contribution to journalArticle

9 Citations (Scopus)

Profile of chromosomal aberrations in different gestational age spontaneous abortions detected by comparative genomic hybridization

Azmanov, D., Milachich, TV., Zaharieva, BM., Michailova, GI., Dimitrova, VG., Karagiozova, ZH., Maznejkova, VT., Chernev, TA. & Toncheva, DI., 2007, In : European Journal of Obstetrics & Gynecology and Reproductive Biology. 131, 2, p. 127-31

Research output: Contribution to journalArticle

30 Citations (Scopus)
2008

Further evidence for allelic heterogeneity in Hartnup disorder

Azmanov, D., Kowalczuk, S., Rodgers, H. J., Auray-Blais, C., Giguère, R., Rasko, J. E. J., Broër, S. & Cavanaugh, J. A., 2008, In : Human Mutation. 29, 10, p. 1217-21

Research output: Contribution to journalArticle

20 Citations (Scopus)
2009

Null mutations in LTBP2 cause primary congenital glaucoma

Ali, M., Mckibbin, M., Booth, A., Parry, D. A., Jain, P., Riazuddin, S. A., Hejtmancik, J. F., Khan, S. N., Firasat, S., Shires, M., Gilmour, D. F., Towns, K., Murphy, A. L., Azmanov, D., Tournev, I., Cherninkova, S., Jafri, H., Raashid, Y., Toomes, C., Craig, J. & 4 othersMackey, D., Kalaydjieva, L., Riazuddin, S. & Inglehearn, C. F., 2009, In : The American Journal of Human Genetics. 84, p. 664-671

Research output: Contribution to journalArticle

168 Citations (Scopus)

Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32

Angelicheva, D., Tournev, I., Guergueltcheva, V., Mihaylova, V., Azmanov, D., Morar, B., Radionova, M., Smith, S. J., Zlatareva, D., Stevens, J. M., Kaneva, R., Bojinova, V., Carter, K., Brown, M., Jablensky, A., Kalaydjieva, L., Sander, J. W. & Kalaydjieva, L., 2009, In : Epilepsia. 50, 7, p. 1679-1688

Research output: Contribution to journalArticle

12 Citations (Scopus)
2010

Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family

Azmanov, D., Zhelyazkova, S., Dimova, P. S., Radionova, M., Bojinova, V., Florez, L., Smith, S. J., Tournev, I., Jablensky, A., Mulley, J., Scheffer, I., Kalaydjieva, L. & Sander, J. W., 2010, In : Epileptic Disorders. 12, 2, p. 117-124

Research output: Contribution to journalArticle

12 Citations (Scopus)
2011

A novel GEFS+ locus on 12p13.33 in a large Roma family

Morar, B., Zhelyazkova, S., Azmanov, D., Radionova, M., Angelicheva, D., Guergueltcheva, V., Kaneva, R., Scheffer, I. E., Tournev, I., Kalaydjieva, L. & Sander, J. W., 2011, In : Epilepsy Research. 97, p. 198-207

Research output: Contribution to journalArticle

3 Citations (Scopus)

Focal epilepsy of probable temporal lobe origin in a Gypsy family showing linkage to a novel locus on 7p21.3

Azmanov, D., Zhelyazkova, S., Radionova, M., Morar, B., Angelicheva, D., Zlatareva, D., Kaneva, R., Tournev, I., Kalaydjieva, L. & Sander, J. W., 2011, In : Epilepsy Research. 96, p. 101-108

Research output: Contribution to journalArticle

7 Citations (Scopus)

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia

Barca-Tierno, V., Aza-Carmona, M., Barroso, E., Heine-Suner, D., Azmanov, D., Rosell, J., Ezquieta, B., Sentchordi Montané, L., Vendrell, T., Cruz, J., Santos, F., Ignacio Rodriguez, J., Pozo, J., Argente, J., Kalaydjieva, L., Gracia, R., Campos-Barros, Á., Benito-Sanz, S. & Heath, K. E., 2011, In : European Journal of Human Genetics. 19, p. 1218-1225

Research output: Contribution to journalArticle

8 Citations (Scopus)

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

Azmanov, D., Dimitrova, S., Florez, L., Cherninkova, S., Draganov, D., Morar, B., Saat, R., Juan, M., Arostegui, J. I., Ganguly, S., Soodyall, H., Chakrabarti, S., Padh, H., López-Nevot, M. A., Chernodrinska, V., Anguelov, B., Majumder, P., Angelova, L., Kaneva, R., Mackey, D. & 2 othersTournev, I. & Kalaydjieva, L., 2011, In : European Journal of Human Genetics. 19, p. 326-333

Research output: Contribution to journalArticle

Open Access
42 Citations (Scopus)

Promoter polymorphisms in two overlapping 6p25 genes implicate mitochondrial proteins in cognitive deficit in schizophrenia

Jablensky, A., Angelicheva, D., Donohoe, GJ., Cruickshank, M., Azmanov, D., Morris, DW., Mcrae, A., Weickert, CS., Carter, KW., Chandler, D., Alexandrov, B., Usheva, B., Morar, B., Verbrugghe, P., Filipovska, A., Rackham, O., Bishop, AR., Rasmussen, KO., Dragovic, M., Cooper, M. & 9 othersPhillips, M., Badcock, J., Bramon-Bosch, E., Almeida, O., Flicker, L., Gill, M., Corvin, A., Macgregor, S. & Kalaydjieva, L., 2011, In : Molecular Psychiatry. 2011, p. 1-12

Research output: Contribution to journalArticle

14 Citations (Scopus)
2012

Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

Guergueltcheva, V., Azmanov, D., Angelicheva, D., Smith, K. R., Chamova, T., Florez, L., Bynevelt, M., Nguyne, T., Cherninkova, S., Bojinova, V., Kaprelyan, A., Angelova, L., Morar, B., Chandler, D., Kaneva, R., Bahlo, M., Tournev, I. & Kalaydjieva, L., 7 Sep 2012, In : American Journal of Human Genetics. 91, 3, p. 553-564

Research output: Contribution to journalArticle

Open Access
50 Citations (Scopus)
2013

Challenges of diagnostic exome sequencing in an inbred founder population

Azmanov, D., Chamova, T., Tankard, R., Gelev, V., Bynevelt, M., Florez, L., Tzoneva, D., Zlatareva, D., Guergueltcheva, V., Bahlo, M., Tournev, I. & Kalaydjieva, L., 2013, In : Molecular Genetics and Genomic Medicine. 1, 2, p. 71-76

Research output: Contribution to journalArticle

Open Access
8 Citations (Scopus)

Roma (Gypsies): Genetic Studies

Morar, B., Azmanov, D. & Kalaydjieva, L., 2013, In : Encyclopedia of Life Sciences. n/a, p. 1-13

Research output: Contribution to journalReview article

2014

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children

Ivanov, I. S., Azmanov, D., Ivanova, M. B., Chamova, T., Pacheva, I. H., Panova, M. V., Song, S., Morar, B., Yordanova, R. V., Galabova, F. K., Sotkova, I. G., Linev, A. J., Bitchev, S., Shearwood, A-M., Kancheva, D., Gabriková, D., Karcagi, V., Guergueltcheva, V., Geneva, I. E., Bozhinova, V. & 9 othersStoyanova, V. K., Kremensky, I. M., Jordanova, A. G., Savov, A. S., Horváth, R., Brown, M. A., Tournev, I., Filipovska, A. & Kalaydjieva, L., Sep 2014, In : Molecular Genetics and Metabolism. 113, 1-2, p. 76-83

Research output: Contribution to journalArticle

Open Access
6 Citations (Scopus)
2015

Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia

Kancheva, D., Chamova, T., Guergueltcheva, V., Mitev, V., Azmanov, D., Kalaydjieva, L., Tournev, I. & Jordanova, A., 2015, In : Movement Disorders. 30, 6, p. 854-858

Research output: Contribution to journalArticle

16 Citations (Scopus)
2016

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

Souma, T., Tompson, S. W., Thomson, B. R., Siggs, O. M., Kizhatil, K., Yamaguchi, S., Feng, L., Limviphuvadh, V., Whisenhunt, K. N., Maurer-Stroh, S., Yanovitch, T. L., Kalaydjieva, L., Azmanov, D., Finzi, S., Mauri, L., Javadiyan, S., Souzeau, E., Zhou, T., Hewitt, A., Kloss, B. & 15 othersBurdon, K. P., Mackey, D., Allen, K. F., Ruddle, J. B., Lim, S. H., Rozen, S., Tran-Viet, K. N., Liu, X., John, S., Wiggs, J. L., Pasutto, F., Craig, J. E., Jin, J., Quaggin, S. E. & Young, T. L., Jul 2016, In : Journal of Clinical Investigation. 126, 7, p. 2575-2587

Research output: Contribution to journalArticle

Open Access
50 Citations (Scopus)

Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement

Azmanov, D. N., Siira, S. J., Chamova, T., Kaprelyan, A., Guergueltcheva, V., Shearwood, A-M. J., Liu, G., Morar, B., Rackham, O., Bynevelt, M., Grudkova, M., Kamenov, Z., Svechtarov, V., Tournev, I., Kalaydjieva, L. & Filipovska, A., 2016, In : Human Molecular Genetics. 25, 19, p. 4302-4314 13 p.

Research output: Contribution to journalArticle

11 Citations (Scopus)
2017

Angiopoietin-1 is required for Schlemm’s canal development in mice and humans

Thomson, B. R., Souma, T., Tompson, S. W., Onay, T., Kizhatil, K., Siggs, O. M., Feng, L., Whisenhunt, K. N., Yanovitch, T. L., Kalaydjieva, L., Azmanov, D. N., Finzi, S., Tanna, C. E., Hewitt, A. W., Mackey, D. A., Bradfield, Y. S., Souzeau, E., Javadiyan, S., Wiggs, J. L., Pasutto, F. & 6 othersLiu, X., John, S. W. M., Craig, J. E., Jin, J., Young, T. L. & Quaggin, S. E., 1 Dec 2017, In : Journal of Clinical Investigation. 127, 12, p. 4421-4436 16 p.

Research output: Contribution to journalArticle

Open Access
14 Citations (Scopus)
2018

Silver Russel syndrome in an aboriginal patient from Australia

Poulton, C., Azmanov, D., Atkinson, V., Beilby, J., Ewans, L., Gration, D., Dreyer, L., Shetty, V., Peake, C., McCormack, E., Palmer, R., Lewis, B., Dawkins, H., Broley, S. & Baynam, G., 1 Dec 2018, In : American Journal of Medical Genetics, Part A. 176, 12, p. 2561-2563 3 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)
2019

Chipping away the challenges of diagnostic genomics applications for short stature

Azmanov, D. N., Arscott, G. M., Abraham, M. B., Miller, J., Connell, C., Pathak, G., Townshend, S., Kamien, B., Siafarikas, A., Baynam, G., Beilby, J. & Choong, C. S., Oct 2019, In : European Journal of Human Genetics. 27, p. 1297-1298 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

Poulton, C., Pathak, G., Mina, K., Lassman, T., Azmanov, D. N., McCormack, E., Broley, S., Dreyer, L., Gration, D., Taylor, E., OSullivan, M., Siafarikis, A., Ravikumara, M., Dawkins, H., Pachter, N. & Baynam, G., 30 May 2019, In : Gene. 699, p. 110-114 5 p.

Research output: Contribution to journalReview article