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Ivailo Tournev

The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time
2004 · Lev A. Zhivotovsky, Peter A. Underhill, et al. · The American Journal of Human Genetics · 395
Null Mutations in LTBP2 Cause Primary Congenital Glaucoma
2009 · Manir Ali, Martin McKibbin, et al. · The American Journal of Human Genetics · 328
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A Pan‐ E uropean Study of the C9orf72 Repeat Associated with FTLD : Geographic Prevalence, Genomic Instability, and Intermediate Repeats
2012 · Julie van der Zee, Ilse Gijselinck, et al. · Human Mutation · 278
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Mutation History of the Roma/Gypsies
2004 · Bharti Morar, David Gresham, et al. · The American Journal of Human Genetics · 171
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Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome
2003 · Raymonda Varon, Rebecca Gooding, et al. · Nature Genetics · 153
A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies)
1999 · Luba Kalaydjieva, Anna Perez-Lezaun, et al. · The American Journal of Human Genetics · 80
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Dominant Intermediate Charcot-Marie-Tooth Type C Maps to Chromosome 1p34-p35
2003 · Albena Jordanova, Florian P. Thomas, et al. · The American Journal of Human Genetics · 75
A Novel Locus for Autosomal Recessive Peripheral Neuropathy in the EGR2 Region on 10q23
2000 · Tamara Rogers, David Chandler, et al. · The American Journal of Human Genetics · 73
Homogeneous phenotype of the gypsy limb-girdle MD with the γ-sarcoglycan C283Y mutation
2000 · L. Merlini, J-C. Kaplan, et al. · Neurology · 61
Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: Clinical and electrophysiological observations
1999 · Ivailo Tournev, Luba Kalaydjieva, et al. · Annals of Neurology · 56
Hereditary motor and sensory neuropathy‐russe: New autosomal recessive neuropathy in balkan gypsies
2001 · P. K. Thomas, Luba Kalaydjieva, et al. · Annals of Neurology · 53
NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24
2005 · Michael Hunter, Dora Angelicheva, et al. · Biochemical and Biophysical Research Communications · 51
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease
2003 · Michael Hunter, Rafaëlle Bernard, et al. · Human Mutation · 50
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Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation
2006 · V. Mihaylova, J. Hantke, et al. · Brain · 45
Carrier Rates of the Ancestral Indian W24X Mutation in GJB2 in the General Gypsy Population and Individual Subisolates
2007 · Sonja Bouwer, Dora Angelicheva, et al. · Genetic Testing · 41
125th ENMC International Workshop: Neuromuscular Disorders in the Roma (Gypsy) Population, 23–25 April 2004, Naarden, The Netherlands
2004 · Luba Kalaydjieva, Hanns Lochmüller, et al. · Neuromuscular Disorders · 28
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Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome
1999 · I. Tournev, R. H. M. King, et al. · Acta Neuropathologica · 28
Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population
2005 · T Todorov, A Savov, et al. · Clinical Genetics · 27
Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children
2014 · Ivan S. Ivanov, Dimitar N. Azmanov, et al. · Molecular Genetics and Metabolism · 26
Hereditary motor and sensory neuropathy – Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries
2000 · David Chandler, Dora Angelicheva, et al. · Neuromuscular Disorders · 23
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Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies
2008 · P Sivadorai, S Cherninkova, et al. · Clinical Genetics · 19
C283Y mutation and other C-terminal nucleotide changes in the ?-sarcoglycan gene in the Bulgarian gypsy population
1999 · Albena Todorova, Angel Ashikov, et al. · Human Mutation · 19
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Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
2024 · Iker Núñez-Carpintero, Maria Rigau, et al. · Nature Communications · 18
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Early Clinical and Electrophysiologic Features of the Two Most Common Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in the Roma (Gypsies)
2006 · Velina Guergueltcheva, Ivailo Tournev, et al. · Journal of Child Neurology · 16
Traditional practices and perceptions of epilepsy among people in Roma communities in Bulgaria
2020 · Plamen Antimov, Ivailo Tournev, et al. · Epilepsy & Behavior · 14
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Works count: 48
Citation count: 2,501
H-index: 21
I10-index: 31
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