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T. Reimand · SciRah

Researcher profile · Semantic Scholar

T. Reimand

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T. Reimand — researcher profile on SciRah

h-index: 19
Works: 60
Citations: 1,270

Most-cited papers

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
N. van der Aa, L. Rooms, G. Vandeweyer, J. van den Ende +26 more
2009European Journal of Medical Genetics191 citations Open access
Semantic Scholar
Down syndrome in Estonia
T. Reimand
2007100 citations
Semantic Scholar
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
D. Beck, Ana Petracovici, Chong-Sheng He, H. Moore +28 more
2020American Journal of Human Genetics88 citations Open access
Semantic Scholar
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy
K. Reinson, E. Õiglane-Shlik, I. Talvik, U. Vaher +10 more
2016American Journal of Medical Genetics. Part A76 citations
Semantic Scholar
De Novo SCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders
U. Vaher, M. Nõukas, T. Nikopensius, M. Kals +10 more
2014Journal of Child Neurology69 citations
Semantic Scholar
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
M. Zweier, A. Begemann, K. McWalter, M. Cho +35 more
2019European Journal of Human Genetics63 citations Open access
Semantic Scholar
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
A. Begemann, H. Sticht, A. Begtrup, A. Vitobello +47 more
2020Genetics in Medicine51 citations Open access
Semantic Scholar
A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.
K. Õunap, H. Puusepp-Benazzouz, M. Peters, U. Vaher +4 more
2012European Journal of Medical Genetics46 citations
Semantic Scholar
Screening for celiac disease in Down's syndrome patients revealed cases of subtotal villous atrophy without typical for celiac disease HLA-DQ and tissue transglutaminase antibodies.
O. Uibo, K. Teesalu, Kaja Metskula, T. Reimand +5 more
2006World Journal of Gastroenterology45 citations Open access
Semantic Scholar
Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families
O. Žilina, T. Reimand, P. Zjablovskaja, K. Männik +5 more
2012American Journal of Medical Genetics. Part A39 citations
Semantic Scholar
Novel homozygous mutation in KPTN gene causing a familial intellectual disability‐macrocephaly syndrome
S. Pajusalu, T. Reimand, K. Õunap
2015American Journal of Medical Genetics. Part A35 citations
Semantic Scholar
Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience
O. Žilina, R. Teek, P. Tammur, K. Kuuse +6 more
2014Molecular Genetics & Genomic Medicine34 citations Open access
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
Natural history of KBG syndrome in a large European cohort
L. Loberti, L. Bruno, Stefania Granata, Gabriella Doddato +55 more
2022Human Molecular Genetics30 citations Open access
Semantic Scholar
Inter‐ and Intrafamilial Phenotypic Variability in Individuals with Collagen‐Related Osteogenesis Imperfecta
L. Zhytnik, K. Maasalu, T. Reimand, B. H. Duy +2 more
2020Clinical and Translational Science28 citations Open access
Semantic Scholar
Two sisters with Silver–Russell phenotype
K. Õunap, T. Reimand, Marja-Liis Mägi⁎, O. Bartsch
2004American Journal of Medical Genetics. Part A27 citations
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
Chromosomal scan of single sperm cells by combining fluorescence-activated cell sorting and next-generation sequencing
Quoc Tran, Tatjana Jatsenko, O. Poolamets, O. Tšuiko +5 more
2018Journal of Assisted Reproduction and Genetics19 citations Open access
Semantic Scholar
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature
I. Kalev, Mu-Ru Kai, R. Teek, R. Žordania +3 more
2010European Journal of Pediatrics19 citations
Semantic Scholar
Descriptive epidemiology of Down's syndrome in Estonia.
T. Reimand, K. Õunap, R. Žordania, Tiiu Ilus +3 more
2006Paediatric and Perinatal Epidemiology17 citations
Semantic Scholar
From late fatherhood to prenatal screening of monogenic disorders: evidence and ethical concerns.
L. Zhytnik, M. Peters, K. Tilk, K. Simm +6 more
2021Human Reproduction Update16 citations Open access
Semantic Scholar
The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity
S. Pajusalu, O. Žilina, Maria Yakoreva, P. Tammur +5 more
2015Molecular Syndromology15 citations Open access
Semantic Scholar
CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature
Stella Lilles, I. Talvik, K. Noormets, U. Vaher +5 more
2016Neuropediatrics14 citations
Semantic Scholar
A prenatally diagnosed case of Meckel–Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene
K. Ridnõi, Marek Šois, Eve Vaidla, S. Pajusalu +3 more
2019Molecular Genetics & Genomic Medicine13 citations Open access
Semantic Scholar
Creating basis for introducing non‐invasive prenatal testing in the Estonian public health setting
O. Žilina, K. Rekker, L. Kaplinski, Martin Sauk +11 more
2019Prenatal Diagnosis13 citations
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
An 8.4‐Mb 3q26.33‐3q28 microdeletion in a patient with blepharophimosis–intellectual disability syndrome and a review of the literature
K. Õunap, S. Pajusalu, O. Žilina, T. Reimand +1 more
2016Clinical Case Reports11 citations Open access
Semantic Scholar
Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature.
O. Žilina, T. Reimand, P. Tammur, V. Tillmann +2 more
2013European Journal of Medical Genetics11 citations
Semantic Scholar
Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases
K. Ridnõi, E. Kurvinen, S. Pajusalu, T. Reimand +1 more
2018Molecular Syndromology10 citations Open access
Semantic Scholar
De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion.
S. Pajusalu, I. Talvik, K. Noormets, T. Talvik +12 more
2016Neuromuscular Disorders10 citations
Semantic Scholar
Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities.
E. Õiglane-Shlik, S. Puusepp, I. Talvik, U. Vaher +7 more
2014European journal of paediatric neurology9 citations
Semantic Scholar
Parents’ Satisfaction with Medical and Social Assistance Provided to Children with Down Syndrome: Experience in Estonia
T. Reimand, O. Uibo, R. Žordania, Veronika Palmiste +2 more
2004Public Health Genomics9 citations
Semantic Scholar
A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 Gene
Mu-Ru Kai, I. Kalev, R. Teek, Margit Sõnajalg +3 more
2011Molecular Syndromology8 citations Open access
Semantic Scholar
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile
D. Rots, Kathleen Rooney, R. Relator, J. Kerkhof +20 more
2024Clinical Genetics6 citations Open access
Semantic Scholar
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene
K. Õunap, Mu-Ru Kai, E. Õiglane-Shlik, P. Ilves +4 more
2019European Journal of Medical Genetics6 citations Open access
Semantic Scholar
Incidence of Childhood Epilepsy in Estonia
K. Veri, I. Talvik, U. Vaher, A. Napa +10 more
2018Journal of Child Neurology6 citations
Semantic Scholar
Prospective experience with contingent screening strategy for Down syndrome in Estonia
Mu-Ru Kai, M. Sitska, Karin Asser, A. Ehrenberg +3 more
2010Journal of Community Genetics6 citations Open access
Semantic Scholar
Antibodies to Neurofilaments
Ija Talja, T. Reimand, O. Uibo, K. Reimand +4 more
2009Annals of the New York Academy of Sciences6 citations
Semantic Scholar
Molecular diagnosis of Down syndrome using quantitative APEX‐2 microarrays
E. Oitmaa, M. Peters, K. Vaidla, R. Andreson +10 more
2010Prenatal Diagnosis5 citations
Semantic Scholar
Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency
D. Beck, Ana Petracovici, Chong-Sheng He, H. Moore +28 more
2019bioRxiv4 citations Open access
Semantic Scholar
De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis.
S. Pajusalu, T. Reimand, O. Uibo, M. Vasar +4 more
2015European Journal of Medical Genetics4 citations
Semantic Scholar
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets
B. Weisburd, Rakshya U. Sharma, Villem Pata, T. Reimand +22 more
2024medRxiv3 citations Open access
Semantic Scholar
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets
B. Weisburd, Rakshya U. Sharma, Villem Pata, T. Reimand +35 more
2024Genetics in Medicine3 citations Open access
Semantic Scholar
Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene.
L. Mauring, S. Puusepp, M. Parik, E. Roomets +5 more
2023European Journal of Medical Genetics3 citations
Semantic Scholar
Identifying long indels in exome sequencing data of patients with intellectual disability
S. Pajusalu, R. Pfundt, L. Vissers, Michael Kwint +4 more
2018bioRxiv3 citations Open access
Semantic Scholar
TTN-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant
K. Õunap, T. Reimand, E. Õiglane-Shlik, S. Puusepp +4 more
2024Neurology: Genetics2 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
Patients with down syndrome have increased prevalence of rheumatoid factor but not autoantibodies to anti-cyclic citrullinated peptide.
Erik Orro, K. Alnek, T. Reimand, K. Reimand +5 more
2019Clinica chimica acta; international journal of clinical chemistry2 citations
Semantic Scholar
Incontinentia pigmenti in a female conceived by in vitro fertilization
K. Haller‐Kikkatalo, M. Peters, K. Kisand, A. Sõritsa +2 more
2008American Journal of Medical Genetics. Part A2 citations
Semantic Scholar

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K. Õunap — researcher profile on SciRah
S. Pajusalu×19
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O. Žilina×9
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R. Teek — researcher profile on SciRah

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U. Vaher — researcher profile on SciRah

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P. Tammur — researcher profile on SciRah

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Mu-Ru Kai — researcher profile on SciRah

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