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T. Kahre · SciRah

Researcher profile · Semantic Scholar

T. Kahre

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T. Kahre — researcher profile on SciRah

h-index: 16
Works: 59
Citations: 705

Most-cited papers

Cystic fibrosis in Estonia
T. Kahre
2004138 citations
Semantic Scholar
Factor V Leiden and prothrombin 21210G>A mutation and paediatric ischaemic stroke: a case–control study and two meta‐analyses
R. Laugesaar, T. Kahre, A. Kolk, Ü. Uustalu +2 more
2010Acta paediatrica37 citations
Semantic Scholar
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016
Maria Yakoreva, T. Kahre, R. Žordania, K. Reinson +10 more
2019European Journal of Human Genetics35 citations Open access
Semantic Scholar
Prevalence of Angelman syndrome and Prader–Willi syndrome in Estonian children: Sister syndromes not equally represented
E. Õiglane-Shlik, T. Talvik, R. Žordania, H. Põder +7 more
2006American Journal of Medical Genetics. Part A32 citations
Semantic Scholar
Large gene panel sequencing in clinical diagnostics—results from 501 consecutive cases
S. Pajusalu, T. Kahre, H. Roomere, Ü. Murumets +4 more
2018Clinical Genetics31 citations
Semantic Scholar
The number of CAG and GGN triplet repeats in the Androgen Receptor gene exert combinatorial effect on hormonal and sperm parameters in young men
Marina Grigorova, M. Punab, T. Kahre, M. Ivandi +7 more
2017Andrology29 citations Open access
Semantic Scholar
Presumed Perinatal Stroke
P. Ilves, R. Laugesaar, D. Loorits, A. Kolk +5 more
2016Journal of Child Neurology27 citations
Semantic Scholar
The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases
S. Pajusalu, M. Vals, Laura Mihkla, Ustina Šamarina +2 more
2021Frontiers in Genetics23 citations Open access
Semantic Scholar
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
D. J. Mackay, G. Gazdagh, David H. Monk, F. Brioude +28 more
2024Clinical Epigenetics22 citations Open access
Semantic Scholar
Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia.
R. Teek, Katrin Kruustük, R. Žordania, K. Joost +6 more
2010International Journal of Pediatric Otorhinolaryngology22 citations
Semantic Scholar
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review
Maria Yakoreva, T. Kahre, S. Pajusalu, Piret Ilisson +4 more
2018Molecular Syndromology20 citations Open access
Semantic Scholar
A descriptive epidemiological study of Duchenne muscular dystrophy in childhood in Estonia.
Ulvi-Astra Talkop, T. Kahre, A. Napa, I. Talvik +4 more
2003European journal of paediatric neurology20 citations
Semantic Scholar
Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes
M. Vals, T. Kahre, P. Mee, Mu-Ru Kai +4 more
2015Molecular Syndromology19 citations Open access
Semantic Scholar
Aortic arch thrombosis in a neonate with heterozygous carrier status of factor V Leiden mutation.
T. Metsvaht, Toomas Hermlin, H. Kern, T. Kahre +1 more
2006Congenital Heart Disease19 citations
Semantic Scholar
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.
K. Joost, K. Õunap, R. Žordania, M. Uudelepp +5 more
2012JIMD Reports18 citations Open access
Semantic Scholar
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.
Snežana Hinić, C. Cybulski, R. S. van der Post, J. Vos +26 more
2024Genetics in Medicine16 citations Open access
Semantic Scholar
Prevalence of the Fragile X Syndrome Among Estonian Mentally Retarded and the Entire Children's Population
H. Puusepp, T. Kahre, H. Sibul, Viljo Soo +3 more
2008Journal of Child Neurology15 citations
Semantic Scholar
Descriptive Epidemiology of Spinal Muscular Atrophy Type I in Estonia
Eve Vaidla, I. Talvik, A. Kulla, T. Kahre +5 more
2006Neuroepidemiology14 citations
Semantic Scholar
Guidance for the Clinical Use of the Breast Cancer Polygenic Risk Scores
P. Padrik, N. Tõnisson, T. Hovda, K. Sahlberg +17 more
2025Cancers13 citations Open access
Semantic Scholar
Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting
Hans Jürgens, L. Roht, L. Leitsalu, M. Nõukas +22 more
2022Frontiers in Genetics13 citations Open access
Semantic Scholar
The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia
S. Sarv, T. Kahre, Eve Vaidla, S. Pajusalu +9 more
2021Frontiers in Genetics13 citations Open access
Semantic Scholar
Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients.
R. Teek, K. Kruustük, R. Žordania, K. Joost +7 more
2013Advances in Medical Sciences13 citations
Semantic Scholar
AXIN2‐related oligodontia‐colorectal cancer syndrome with cleft palate as a possible new feature
L. Roht, H. K. Hyldebrandt, A. Stormorken, H. Nordgarden +9 more
2023Molecular Genetics & Genomic Medicine12 citations Open access
Semantic Scholar
Are Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphisms C677T and A1298C Associated with Higher Risk of Pediatric Migraine in Boys and Girls
A. Lorenz, T. Kahre, E. Mihailov, T. Nikopensius +3 more
201411 citations Open access
Semantic Scholar
The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population
L. Roht, P. Laidre, M. Tooming, N. Tõnisson +15 more
2023Cancers10 citations Open access
Semantic Scholar
The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period
Elis Tiivoja, K. Reinson, Mu-Ru Kai, K. Rähn +5 more
2022JIMD Reports10 citations Open access
Semantic Scholar
Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.
O. Žilina, T. Kahre, I. Talvik, E. Õiglane-Shlik +2 more
2014European Journal of Medical Genetics9 citations
Semantic Scholar
Severe CF manifestation with anaemia and failure to thrive in a 394delTT homozygous patient.
T. Kahre, M. Teder, Maarja Panov, A. Metspalu
2004Journal of Cystic Fibrosis9 citations Open access
Semantic Scholar
The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome
M. Vals, Maria Yakoreva, T. Kahre, P. Mee +6 more
2015Genetic Testing and Molecular Biomarkers8 citations Open access
Semantic Scholar
Detection of clinically relevant variants in the TP53 gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLL
Š. Pavlová, J. Malčíková, Lenka Radova, Silvia Bonfiglio +95 more
2025HemaSphere6 citations Open access
Semantic Scholar
High Prevalence of Collagenopathies in Preterm- and Term-Born Children With Periventricular Venous Hemorrhagic Infarction
N. Ilves, S. Pajusalu, T. Kahre, R. Laugesaar +4 more
2023Journal of Child Neurology6 citations Open access
Semantic Scholar
The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records
Hardo Lilleväli, K. Reinson, Mu-Ru Kai, Siret Saarsalu +4 more
2019Molecular Genetics and Metabolism Reports6 citations Open access
Semantic Scholar
Clinical Implementation Study of Genetic Risk-Based Breast Cancer Screening.
M. Tamm, P. Padrik, K. Ojamaa, A. Paas +22 more
2025Clinical Breast Cancer5 citations
Semantic Scholar
Pharmacogenetics may explain part of the interindividual variability of dobutamine pharmacodynamics in neonates
M. Hallik, H. Soeorg, T. Kahre, Ü. Murumets +3 more
2022British Journal of Clinical Pharmacology5 citations Open access
Semantic Scholar
The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016–2021
L. Roht, M. Tooming, K. Rekker, H. Roomere +5 more
2022Frontiers in Genetics4 citations Open access
Semantic Scholar
Hereditary cancer: Germline testing practices across ERN GENTURIS member countries
Milena Kiljańczyk, Zanda Daneberga, M. Tooming, K. Urbańczyk +19 more
2026European Journal of Human Genetics3 citations Open access
Semantic Scholar
Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries
Kathrin Taxer, Katharina Wimmer, K. Wadt, S. Schnaiter +27 more
2026European Journal of Human Genetics3 citations Open access
Semantic Scholar
MODY2 caused by a novel mutation of GCK gene
K. Pulst, Triin Arbo, T. Kahre, A. Peet +1 more
2012Journal of Pediatric Endocrinology & Metabolism (JPEM)3 citations
Semantic Scholar
Implementing mainstream germline genetic testing in breast cancer across Europe
Eduard Pérez-Ballestero, Sagal Ahmed Shire, M. Krajc, Arvīds Irmejs +9 more
2026BJC Reports2 citations Open access
Semantic Scholar
A two‐year prospective study assessing the performance of fetal chromosomal microarray analysis and next‐generation sequencing in high‐risk pregnancies
K. Ridnõi, Mu-Ru Kai, M. Keernik, S. Pajusalu +9 more
2021Molecular Genetics & Genomic Medicine2 citations Open access
Semantic Scholar
Exploring the hereditary genetic mutational landscape of breast and ovarian cancer in Estonia
M. Tooming, K. Toome, K. Rekker, L. Roht +20 more
2026Scientific Reports1 citations Open access
Semantic Scholar
Autosomal dominant tibial muscular dystrophy in Estonia
S. Sarv, T. Reimand, E. Õiglane-Shlik, S. Puusepp +13 more
2025Journal of Translational Genetics and Genomics1 citations Open access
Semantic Scholar
An implementation study of the service model for genetic risk-based stratified breast cancer screening - Estonian results of the BRIGHT project
M. Tamm, P. Padrik, K. Ojamaa, A. Paas +16 more
2024medRxiv1 citations Open access
Semantic Scholar
Laboratories Can Reliably Detect Clinically Relevant Variants in the TP53 Gene below 10 % Allelic Frequency: A Multicenter Study of ERIC, the European Research Initiative on CLL
Š. Pavlová, J. Malčíková, Lenka Radova, Silvia Bonfiglio +94 more
2023Blood1 citations Open access
Semantic Scholar
Genetic profiling of healthy family members of breast and ovarian cancer patients in Estonia
M. Tooming, K. Rekker, K. Toome, L. Roht +19 more
2026Frontiers in Genetics0 citations Open access
Semantic Scholar
The long (GGN)n repeat tract in the androgen receptor gene exerts a negative effect on quantitative sperm parameters.
K. Ehala-Aleksejev, Triin Kikas, Marina Grigorova, T. Kahre +5 more
2026Asian Journal of Andrology0 citations Open access
Semantic Scholar
Exploring the somatic mutational landscape of ovarian cancer in Estonia
M. Tooming, K. Rekker, K. Toome, L. Roht +16 more
2026Acta oncologica0 citations Open access
Semantic Scholar
4.90P Hereditary neuromuscular disorders in Estonia: a nationwide clinical and genetic overview
S. Sarv, T. Kahre, E. Õiglane-Shlik, Liis Väli +1 more
2026Neuromuscular Disorders0 citations
Semantic Scholar
Cystic fibrosis newborn screening pilot study in Estonia
E. Albin, T. Kahre, K. Õunap, K. Muru +7 more
2026Journal of Cystic Fibrosis0 citations
Semantic Scholar
447PA novel hemizygous CD99L2 variant in adult patient with neurogenic muscle impairment
S. Sarv, S. Puusepp, L. Vali, V. Ganesh +5 more
2025Neuromuscular Disorders0 citations
Semantic Scholar

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S. Pajusalu×17
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