• The University of Western Australia (M521), 35 Stirling Highway,

    6009 Perth

    Australia

  • The University of Western Australia (M519), 35 Stirling Highway,

    6009 Perth

    Australia

  • 1577 Citations
  • 19 h-Index
1986 …2019
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Research Output 1986 2019

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Article
2019

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant

Lake, N. J., Formosa, L. E., Stroud, D. A., Ryan, M. T., Calvo, S. E., Mootha, V. K., Morar, B., Procopis, P. G., Christodoulou, J., Compton, A. G. & Thorburn, D. R., 1 Jul 2019, In : Human Mutation. 40, 7, p. 893-898 6 p.

Research output: Contribution to journalArticle

Leigh Disease
Dual (Psychiatry) Diagnosis
Genes
Exome
Mitochondrial Diseases
2018
3 Citations (Scopus)
Cognition
Schizophrenia
Men's Health
Genes
Premature Aging
1 Citation (Scopus)
66 Downloads (Pure)
Open Access
File
Genetic Heterogeneity
Schizophrenia
Genome
Psychotic Disorders
Base Pairing
2017
6 Citations (Scopus)
Exome
Schizophrenia
Genetic Association Studies
Gene Frequency
Population
6 Citations (Scopus)

Longevity Klotho gene polymorphism and the risk of dementia in older men

Almeida, O. P., Morar, B., Hankey, G. J., Yeap, B. B., Golledge, J., Jablensky, A. & Flicker, L., 1 Jul 2017, In : Maturitas. 101, p. 1-5 5 p.

Research output: Contribution to journalArticle

Polymorphism
Dementia
Hazards
Genes
Genotype
4 Citations (Scopus)

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC

Hamilton, E. M. C., Bertini, E., Kalaydjieva, L., Morar, B., Dojčáková, D., Liu, J., Vanderver, A., Curiel, J., Persoon, C. M., Diodato, D., Pinelli, L., Van Der Meij, N. L., Plecko, B., Blaser, S., Wolf, N. I., Waisfisz, Q., Abbink, T. E. M. & Van Der Knaap, M. S., 24 Oct 2017, In : Neurology. 89, 17, p. 1821-1828 8 p.

Research output: Contribution to journalArticle

Open Access
Roma
Mutation
Population
Exome
Founder Effect
2016
1 Citation (Scopus)

Integrity of genome-wide genotype data from low passage lymphoblastoid cell lines

McCarthy, N. S., Allan, S. M., Chandler, D., Jablensky, A. & Morar, B., 2016, In : Genomics Data. 9, p. 18-21 4 p.

Research output: Contribution to journalArticle

Open Access
Genes
Genotype
Cells
Genome
Cell Line
8 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

2014
6 Citations (Scopus)

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
Roma
Lactic Acidosis
Genes
Mutation
Bulgaria
36 Citations (Scopus)

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans

Humbert, C., Silbermann, F., Morar, B., Parisot, M., Zarhrate, M., Masson, C., Tores, F., Blanchet, P., Perez, M. J., Petrov, Y., Khau Van Kien, P., Roume, J., Leroy, B., Gribouval, O., Kalaydjieva, L., Heidet, L., Salomon, R., Antignac, C., Benmerah, A., Saunier, S. & 1 othersJeanpierre, C., 2014, In : American Journal of Human Genetics. 94, 2, p. 288-294

Research output: Contribution to journalArticle

Open Access
Mutation
Kidney
Genes
Exome
Knockout Mice
2012
48 Citations (Scopus)

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
Cerebellar Ataxia
Mutation
Introns
Exons
Gait Ataxia
29 Citations (Scopus)

Deleterious GRM1 Mutations in Schizophrenia

Ayoub, M., Angelicheva, D., Vile, D., Chandler, D., Morar, B., Cavanaugh, J. A., Visscher, P. M., Jablensky, A., Pfleger, K. & Kalaydjieva, L., 2012, In : PLoS One. 7, p. 8pp e32849.

Research output: Contribution to journalArticle

Open Access
22 Citations (Scopus)

Impact of the Reelin signaling cascade (Ligands-Receptors-Adaptor Complex) on cognition in schizophrenia

Verbrugghe, P., Bouwer, S. T., Wiltshire, S., Carter, K., Chandler, D., Cooper, M., Morar, B., Razif, M. F. M., Henders, A., Badcock, J., Dragovic, M., Carr, V., Almeida, O., Flicker, L., Montgomery, G., Jablensky, A. & Kalaydjieva, L., 2012, In : American Journal of Medical Genetics Part B-Neuropsychiatric Genetics. 159 B, 4, p. 392-404

Research output: Contribution to journalArticle

2011
3 Citations (Scopus)

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

7 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

39 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
46 Citations (Scopus)
34 Citations (Scopus)

Polymorphisms associated with normal memory variation also affect memory impairment in schizophrenia

Jablensky, A., Morar, B., Wiltshire, S., Carter, K., Dragovic, M., Badcock, J., Chandler, D., Peters, K. & Kalaydjieva, L., 2011, In : GENES BRAIN AND BEHAVIOR. 10, 4, p. 410-417

Research output: Contribution to journalArticle

14 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

2010
98 Citations (Scopus)

Psychosis Susceptibility Gene ZNF804A and Cognitive Performance in Schizophrenia

Walters, J. T. R., Corvin, A., Owen, M. J., Williams, H., Dragovic, M., Quinn, E. M., Judge, R., Smith, D. J., Norton, N., Giegling, I., Hartmann, A. M., Moeller, H. J., Muglia, P., Moskvina, V., Dwyer, S., O'Donoghue, T., Morar, B., Cooper, M., Chandler, D., Jablensky, A. & 6 othersGill, M., Kaladjieva, L., Morris, D. W., O'Donovan, M. C., Rujescu, D. & Donohoe, G., 2010, In : Archives of General Psychiatry. 67, p. 692-700

Research output: Contribution to journalArticle

2009
12 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

Roma
Partial Epilepsy
Epilepsy
Temporal Lobe Epilepsy
Pedigree
2008
66 Citations (Scopus)
Episodic Memory
Genetic Polymorphisms
Dementia
Alleles
Genotype
2007
25 Citations (Scopus)

Evaluation of association of SNPs in the TNF alpha gene region with schizophrenia

Morar, B., Schwab, S., Albus, M., Maier, W., Lerer, B. & Wildenauer, D., 2007, In : Americal Journal of Medical Genetics Part B. 144B, p. 318-324

Research output: Contribution to journalArticle

Single Nucleotide Polymorphism
Schizophrenia
Tumor Necrosis Factor-alpha
Major Histocompatibility Complex
Genes
2005
61 Citations (Scopus)

A newly discovered founder population: the Roma/Gypsies

Kalaydjieva, L., Morar, B., Chaix, R. & Tang, H., 2005, In : BioEssays. 27, 10, p. 1084-1094

Research output: Contribution to journalArticle

Roma
Medicine
Economics
Population
Founder Effect
2004
108 Citations (Scopus)

Mutation History of the Roma/Gypsies

Morar, B., Gresham, D., Angelicheva, D., Tournev, I., Gooding, R., Guergueltcheva, V., Schmidt, C., Abicht, A., Lochmuller, H., Tordai, A., Kalmar, L., Nagy, M., Karcagi, V., Jeanpierre, M., Herczegfalvi, A., Beeson, D., Venkataraman, V., Carter, K., Reeve, J., De Pablo, R. & 2 othersKučinskas, V. & Kalaydjieva, L., 2004, In : American Journal of Human Genetics. 75, 4, p. 596-609

Research output: Contribution to journalArticle

Roma
Mutation
Haplotypes
Population
Congenital Myasthenic Syndromes
295 Citations (Scopus)

The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time

Zhivotovsky, L. A., Underhill, P. A., Cinnioğlu, C., Kayser, M., Morar, B., Kivisild, T., Scozzari, R., Cruciani, F., Destro-Bisol, G., Spedini, G., Chambers, G. K., Herrers, R. J., Yong, K. K., Gresham, D., Tournev, I., Feldman, M. W. & Kalaydjieva, L., 2004, In : American Journal of Human Genetics. 74, 1, p. 50-61

Research output: Contribution to journalArticle

Y Chromosome
Mutation Rate
Microsatellite Repeats
Population
Bulgaria
18 Citations (Scopus)

Vlax Roma history : what do coalescent-based methods tell us?

Chaix, R., Austerlitz, F., Morar, B., Kalaydjieva, L. & Heyer, E., 2004, In : European Journal of Human Genetics. 12, 4, p. 1-8

Research output: Contribution to journalArticle

Roma
Population
Chromosomes, Human, Pair 8
Mitochondrial Genome
Y Chromosome
2003
19 Citations (Scopus)

A standard protocol for single nucleotide primer extension in the human genome using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry

Wise, C. A., Paris, M., Morar, B., Wang, W., Kalaydjieva, L. & Bittles, A. H., 2003, In : Rapid Communications in Mass Spectrometry. 17, 11, p. 1195-1202

Research output: Contribution to journalArticle

Polymorphism
Ionization
Mass spectrometry
Desorption
Nucleotides
38 Citations (Scopus)

Mutation Screening of the N-myc Dowstream-Regulated Gene 1 (NDRG1) in Patients With Charcot-Marie-Tooth Disease

Hunter, M., Bernard, R., Freitas, E., Boyer, A., Morar, B., Martins, I., Tournev, I., Jordanova, A., Guergelcheva, V., Ishpekova, B., Kremensky, I., Nicholson, G., Schlotter, B., Lochmuller, H., Voit, T., Colomer, J., Thomas, P. K., Levy, N. & Kalaydjieva, L., 2003, In : Human Mutation. 22, 2, p. 129-135

Research output: Contribution to journalArticle

112 Citations (Scopus)

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

Varon, R., Gooding, R., Steglich, C., Marns, L., Tang, H., Angelicheva, D., Yong, K. K., Ambrugger, P., Reinhold, A., Morar, B., Baas, F., Kwa, M., Tournev, I., Guerguelcheva, V., Kremensky, I., Lochmuller, H., Mullner-Eidenbock, A., Merlini, L., Neumann, L., Burger, J. & 6 othersWalter, M., Swoboda, K., Thomas, P. K., Von Moers, A., Risch, N. & Kalaydjieva, L., 2003, In : Nature Genetics. 35, 2, p. 185-189

Research output: Contribution to journalArticle

Facial Nerve Diseases
RNA Polymerase II
Phosphoric Monoester Hydrolases
Cataract
Haplotypes
2002
37 Citations (Scopus)

Genetic Substructure in South African Bantu-Speakers: Evidence from Autosomal DNA and Y

Lane, A. B., Soodyall, H., Arndt, S., Ratshikhopha, M. E., Jonker, E., Freeman, C., Young, L., Morar, B. & Toffie, L., 2002, In : American Journal of Physical Anthropology. 119, p. 175-185

Research output: Contribution to journalArticle

2001
153 Citations (Scopus)

Origins and Divergence of the Roma (Gypsies)

Gresham, D., Morar, B., Underhill, P. A., Passarino, G., Lin, A. A., Wise, C., Angelicheva, D., Calafell, F., Oefner, P. J., Shen, P., Tournev, I., De Pablo, R., Kucinskas, V., Perez-Lezaun, A., Marushiakova, E., Popov, V. & Kalaydjieva, L., 2001, In : The American Journal of Human Genetics. 69, p. 1314-1331

Research output: Contribution to journalArticle

5 Citations (Scopus)

Social and biological history of the Roma (Gipsies)

Kalaydjieva, L., Morar, B., Gresham, D., Underhill, P. A., Passarino, G., Lin, A. A., Wise, C., Angelicheva, D., Calaféll, F., Oefher, P. J., Shen, P., Tournev, I., De Pablo, R., Kučinskas, V., Perez-Lezaun, A., Marushiakova, E. & Popov, V., 2001, In : Acta Myologica. 20, DEC., p. 181-187 7 p.

Research output: Contribution to journalArticle

Roma
Demography
Cultural Anthropology
Population
Genetic Research
1998
163 Citations (Scopus)

A global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locus

Kidd, K. K., Morar, B., Castiglione, C. M., Zhao, H., Pakstis, A. J., Speed, W. C., Bonne-Tamir, B., Lu, R. B., Goldman, D., Lee, C., Nam, Y. S., Grandy, D. K., Jenkins, T. & Kidd, J. R., Aug 1998, In : Human Genetics. 103, 2, p. 211-27 17 p.

Research output: Contribution to journalArticle

Linkage Disequilibrium
Haplotypes
Population
Microsatellite Repeats
Surveys and Questionnaires
1996
12 Citations (Scopus)

The molecular characterization of Gaucher disease in South Africa

Morar, B. & Lane, A. B., Aug 1996, In : Clinical Genetics. 50, 2, p. 78-84 7 p.

Research output: Contribution to journalArticle

Gaucher Disease
South Africa
Alleles
Gene Frequency
Mutation
1986
7 Citations (Scopus)

Alpha-1-antitrypsin variation in Southern Africa

Dunn, D. S., Madhoo, B., Turnbull, R. & Jenkins, T., 1986, In : Human Heredity. 36, 4, p. 238-242 5 p.

Research output: Contribution to journalArticle

Southern Africa
alpha 1-Antitrypsin
Isoelectric Point
Population