Scientific publications

2016

Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes
Vámos R, Külm M, Szabó V, Ahman A, Lesch B, Schneider M, Varsányi B, Nagy ZZ, Németh J, Farkas Á
Eur J Ophthalmol 2016; 26(1): 78 – 84. DOI:10.5301/ejo.5000643

2015

Change in prescription pattern as a potential marker for adverse drug reactions of angiotensin converting enzyme inhibitors
Mahmoudpour SH, Asselbergs FW, de Keyser CE, Souverein PC, Hofman A, Stricker BH, de Boer A, Maitland-van der Zee A-H.
Int J Clin Pharm. 2015; 37(6): 1095–1103. doi:  10.1007/s11096-015-0159-3

Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes
Vámos R, Külm M, Szabó V, Ahman A, Lesch B, Schneider M, Varsányi B, Nagy ZZ, Németh J, Farkas Á.
Eur J Ophthalmol. 2015 Jul 2:0. doi: 10.5301/ejo.5000643.

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells
Seco CZ, Giese AP, Shafique S, Schraders M, Oonk AM, Grossheim M, Oostrik J, Strom T, Hegde R, van Wijk E, Frolenkov GI, Azam M, Yntema HG, Free RH, Riazuddin S, Verheij JB, Admiraal RJ, Qamar R, Ahmed ZM, Kremer H.
European Journal of Human Genetics, (15 July 2015) | doi:10.1038/ejhg.2015.157

2014

A Validated Biorepository of Retina and Choroid Tissues for Gene Expression Studies
Parekh M, Montanini L, Crafa P, Salvalaio G, Ruzza A, Aaspõllu A, Mora P, Orsoni J G, Ponzin D, Ferrari S.
Biopreservation and Biobanking. August 2014, 12(4): 255-258. doi:10.1089/bio.2014.0018.

A polymer Lab-on-a-Chip for genetic analysis using the arrayed primer extension on microarray chips
Marasso SL, Mombello D, Cocuzza M, Casalena D, Ferrante I, Nesca A, Põiklik P, Rekker K, Aaspõllu A, Ferrero S, Pirri CF
Biomedical Microdevices 2014 May 16. DOI 10.1007/s10544-014-9869-x

2013

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa
Méndez-Vidal C, González-Del Pozo M, Vela-Boza A, Santoyo-López J, López-Domingo FJ, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G.
Mol Vis. 2013 Nov 7;19:2187-95.

Lynch syndrome mutations shared by the Baltic States and Poland
Dymerska D, Kurzawski G, Suchy J, Roomere H, Toome K, Metspalu A, Janavicˇius R, Elsakov P,Irmejs A, Berzina D, Miklasˇevicˇs E, Gardovskis J, Rebane E, Kelve M, Kładny J, Huzarski T, Gronwald J, De ̧bniak T, Byrski T, Stembalska A, Surdyka D, Siołek M, Szwiec M, Banaszkiewicz Z, Wis ́niowski R.
Clin Genet 2013 Epub 2013 Sept 5.

Ace I/D polymorphism is associated with habitual physical activity in pubertal boys
Mäestu J, Lätt E, Rääsk T, Sak K, Laas K, Jürimäe J, Jürimäe T.
J Physiol Sci. 2013 Aug 3.

Arrayed primer extension microarray for the analysis of genes associated with congenital stationary night blindness
Vaidla K, Uksti J, Zeitz C, Oitmaa E.
Methods Mol Biol. 2013;963:319-26.

2012

Analysis of NADP+-dependent isocitrate dehydrogenase-1/2 gene mutations in pediatric brain tumors: report of a secondary anaplastic astrocytoma carrying the IDH1 mutation
Mascelli S, Raso A, Biassoni R, Severino M, Sak K, Joost K, Milanaccio C, Barra S, Grillo-Ruggieri F, Vanni I, Consales A, Cama A, Capra V, Nozza P, Garrè ML.
J Neurooncol. 2012 Jul 22.

Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa
Blanco-Kelly F, García-Hoyos M, Cortón M, Avila-Fernández A, Riveiro-Álvarez R, Giménez A, Hernan I, Carballo M, Ayuso C.
Mol Vis. 2012;18:1478-83. Epub 2012 Jun 5.

2011

APEX microarray panel for genotyping polymorphisms in cancer chemotherapy and estimation frequencies in a Slovak population
Soltysova A, Minarik G, Dzurenkova A, Sufliarska S, Kadasi L, Turna J, Mladosievicova B.
Pharmacogenomics. 2011, 12(4), 577–592.

Molecular epidemiology of Usher syndrome in Italy
Vozzi D, Aaspõllu A, Athanasakis E, Berto A, Fabretto A, Licastro D, Külm M, Testa F, Trevisi P, Vahter M, Ziviello C, Martini A, Simonelli F, Banfi S, Gasparini P.
Mol Vis. 2011; 17: 1662–1668.

Clinical evaluation of two consanguineous families with homozygous mutations in BEST1
Piñeiro-Gallego T, Álvarez M, Pereiro I, Campos S, Sharon D, Schatz P, Valverde D.
Mol Vis. 2011;17:1607-17. Epub 2011 Jun 16.

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia
Dušková L, Kopečková L, Jansová E, Tichý L, Freiberger T, Zapletalová P, Soška V, Ravčuková B, Fajkusová L.
Atherosclerosis. 2011 May;216(1):139-45. Epub 2011 Jan 21.

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome
Pereiro I, Hoskins BE, Marshall JD, Collin GB, Naggert JK, Piñeiro-Gallego T, Oitmaa E, Katsanis N, Valverde D, Beales PL.
Eur J Hum Genet. 2011 Apr;19(4):485-8.

Genetic assessment following increased nuchal translucency and normal karyotype
Pergament E, Alamillo C, Sak K, Fiddler M.
Prenat Diagn. 2011 Mar;31(3):307-10. doi: 10.1002/pd.2718. Epub 2011 Feb 15.

Discordance for retinitis pigmentosa in two monozygotic twin pairs
Berghmans LV, de Mendonça RH, Coppieters F, de Oliveira Maia Júnior O, Takahashi WY, Lissens W, de Baere E, Leroy BP.
Retina. 2011 Jan 28.

2010

ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia
Shammas C, Papasavva T, Felekis X, Christophorou C, Roomere H, Synodinos JT, Kanavakis E, El-Khateeb M, Hamamy H, Mahmoud T, Shboul M, Beshlawy AE, Filon D, Hussein IR, Galanello R, Romeo G, Kleanthous M.
Clin Chem Lab Med. 2010 Dec;48(12):1713-8.

Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa
Clark GR, Crowe P, Muszynska D, O’Prey D, O’Neill J, Alexander S, Willoughby CE, McKay GJ, Silvestri G, Simpson DA.
Ophthalmology. 2010 Nov;117(11):2169-77.

Molecular diagnosis of Down syndrome using quantitative APEX-2 microarrays
Oitmaa E, Peters M, Vaidla K, Andreson R, Mägi R, Slavin G, Velthut A, Tõnisson N, Reimand T, Remm M, Schneider M, Ounap K, Salumets A, Metspalu A.
Prenat Diagn. 2010 Oct 14.

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype
Littink KW, van den Born LI, Koenekoop RK, Collin RW, Zonneveld MN, Blokland EA, Khan H, Theelen T, Hoyng CB, Cremers FP, den Hollander AI, Klevering BJ.
Ophthalmology. 2010 Oct;117(10):2026-33, 2033.e1-7. doi: 10.1016/j.ophtha.2010.01.040.

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children
Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Trzupek K, Cohn ES, Weleber RG, Stone EM, Smith RJ.
Genet Med. 2010 Aug;12(8):512-6. doi: 10.1097/GIM.0b013e3181e5afb8.

Arrayed Primer Extension Microarrays for Molecular Diagnostics
Tõnisson N, Oitmaa E, Krjutskov K, Pullat J, Lind I, Leego M, Kurg A, Metspalu A.
Molecular Diagnostics. Oxford: Academic Press, 2010, pp. 267-284.

A subset of candidate polymorphisms identified by 52 SNPs mini-array in two Duroc sub-populations revealed significant differences in SNP allele distributions
Oleński K, Sieczkowska H, Koćwin-Podsiadła M, Help H, Kamiński S.
Annals of Animal Science, Vol. 10, No.1 (2010) 17–25.

2009

Outcome of ABCA4 microarray screening in routine clinical practice
Ernest PJ, Boon CJ, Klevering BJ, Hoefsloot LH, Hoyng CB.
Mol Vis. 2009 Dec 20;15:2841-7.

Microarray-based mutation analysis of 183 Spanish families suffering from Usher Syndrome
Jaijo T, Aller E, García-García G, Aparisi MJ, Bernal S, Avila-Fernandez A, Barragán I, Baiget M, Ayuso C, Antiñolo G, Díaz-Llopis M, Külm M, Beneyto M, Nájera C, Millan JM.
Invest Ophthalmol Vis Sci. 2009 Aug 13.

Genotyping microarray for CSNB-associated genes
Zeitz C, Labs S, Lorenz B, Forster U, Üksti J, Kroes HY, De Baere E, Leroy BP, Cremers FPM, Wittmer M, van Genderen MM, Sahel J-A, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer J, Hüffmeier U, Veselina Moskova-Doumanova, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W.
Investigative Ophthalmology and Visual Science,  July 2, 2009.

Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array
Kweekel DM, Antonini NF, Nortier JW, Punt CJ, Gelderblom H, Guchelaar HJ.
Br J Cancer. 2009 Jul 21; 101(2): 357-62. Epub 2009 Jun 16.

Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants
Aguirre-Lamban J, Riveiro-Alvarez R, Maia-Lopes S, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ramos C, Ayuso C.
Br J Ophthalmol. 2009 May;93(5):614-21. doi: 10.1136/bjo.2008.145193. Epub 2008 Nov 21.

Clinical utility of the ABCR400 microarray: basing a genetic service on a commercial gene chip
Roberts LJ, Ramesar RS, Greenberg J.
Arch Ophthalmol. 2009 Apr;127(4):549-54.

ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis
Maia-Lopes S, Aguirre-Lamban J, Castelo-Branco M, Riveiro-Alvarez R, Ayuso C, Silva ED.
Mol Vis. 2009;15:584-91. Epub 2009 Mar 25.

Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss
Teek R, Oitmaa E, Kruustük K, Zordania R, Joost K, Raukas E, Tõnisson N, Gardner P, Schrijver I, Kull M, Ounap K.
Int J Pediatr Otorhinolaryngol. 2009 Jan; 73(1): 103-7. Epub 2008 Nov 22.

Evaluation of the 124-plex SNP typing microarray for forensic testing

Krjutskov K, Viltrop T, Palta P, Metspalu E, Tamm E, Suvi S, Sak K, Merilo A, Sork H, Teek R, Nikopensius T, Kivisild T, Metspalu A.
Forensic Sci Int Genet. 2009 Dec; 4(1): 43-8. Epub 2009 May 15.

Comparison of DNA extraction methods for multiplex polymerase chain reaction

Viltrop T, Krjutškov K, Palta P, Metspalu A.
Anal Biochem. 2009 Nov 20.

2008

Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease
Gojova L, Jansova E, Külm M, Pouchla S, Kozak L.
Clin Genet. 2008 May; 73(5): 441- 521.

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies
Kitiratschky VB, Grau T, Bernd A, Zrenner E, Jägle H, Renner AB, Kellner U, Rudolph G, Jacobson SG, Cideciyan AV, Schaich S, Kohl S, Wissinger B.
Eur J Hum Genet. 2008 Jul;16(7):812-9. doi: 10.1038/ejhg.2008.23. Epub 2008 Feb 20.

A novel mutation and phenotypes in phosphodiesterase 6 deficiency
Tsang SH, Tsui I, Chou CL, Zernant J, Haamer E, Iranmanesh R, Tosi J,
Allikmets R.
Am J Ophthalmol. 2008 Nov; 146(5): 780-8. Epub 2008 Aug 23.

Arrayed primer extension on in situ synthesized 5′–>3′ oligonucleotides in microchannels

Pullat J, Kusnezow W, Jaakson K, Beier M, Hoheisel JD, Metspalu A.
N Biotechnol. 2008 Oct-Dec; 25(2-3): 133-41. Epub 2008 Aug 14.

Phenotypic expression of a PRPF8 gene mutation in a Large African American family
Walia S, Fishman GA, Zernant-Rajang J, Raime K, Allikmets R.
Arch Ophthalmol. 2008 Aug;126(8):1127-32.

Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1
Köhn L, Burstedt MS, Jonsson F, Kadzhaev K, Haamer E, Sandgren O, Golovleva I.
Invest Ophthalmol Vis Sci. 2008 Jul; 49(7): 3172-7. Epub 2008 Mar 14.

Arrayed Primer Extension for the Noninvasive Prenatal Diagnosis of β-Thalassemia Based on Detection of Single Nucleotide Polymorphisms
Papasavva T, Kalikas I, Kyrri A, and Kleanthousa M.
Annals of the New York Academy of Sciences  2008, vol. 1137, pp. 302-308.

2007

An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy
Henderson RH, Waseem N, Searle R, van der Spuy J, Russell-Eggitt I, Bhattacharya SS, Thompson DA, Holder GE, Cheetham ME, Webster AR, Moore AT.
Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5684-9.

Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray
Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Wilke R, Aguirre-Lamban J, Avila-Fernandez A, Lopez-Martinez MA, Gimenez A, Trujillo-Tiebas MJ, Ramos C, Ayuso C.
Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5653-61.

N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population
Rosenberg T, Klie F, Garred P, Schwartz M.
Mol Vis. 2007 Oct 17;13:1962-9.

Arrayed primer extension in the “array of arrays” format: a rational approach for microarray-based SNP genotyping
Klitø NG, Tan Q, Nyegaard M, Brusgaard K, Thomassen M, Skouboe C, Dahlgaard J, Kruse TA.
Genet Test. 2007 Summer;11(2):160-6.

Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions
Koenekoop RK, Lopez I, den Hollander AI, Allikmets R, Cremers FP.
Clin Experiment Ophthalmol. 2007 Jul;35(5):473-85.

Construction and validation of a Parkinson’s disease mutation genotyping array for the Parkin gene

Clark LN, Haamer E, Mejia-Santana H, Harris J, Lesage S, Durr A, Bs SJ, Hedrich K, Louis ED, Cote LJ, Andrews H, Fahn S, Waters C, Ford B, Frucht S, Scott W, Klein C, Brice A, Roomere H, Ottman R, Marder K.
Mov Disord. 2007 May 15; 22(7): 932-7.

Comprehensive Arrayed Primer Extension Array for the Detection of 59 Sequence Variants in 15 Conditions Prevalent Among the (Ashkenazi) Jewish Population
Schrijver I, Külm M, Gardner PI, Pergament EP, and Fiddle MB
Journal of Molecular Diagnostics, Vol. 9, No. 2, April 2007

Genotyping of single nucleotide polymorphisms by arrayed primer extension
Tebbutt SJ.
Methods Mol Biol. 2007;382:149-61.

2006

Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis
Yzer S, Leroy BP, De Baere E, de Ravel TJ, Zonneveld MN, Voesenek K, Kellner U, Martinez Ciriano JP, de Faber JTHN,  Rohrschneider K, Roepman R, den Hollander AI, Cruysberg JR, Meire F, Casteels I, van Moll-Ramirez NG, Allikmets R, van den Born LI, and Cremers FPM
Vis Sci. 2006; 47: 1167–1176) DOI: 10.1167/iovs.05-0848.

Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele

Valverde D, Riveiro-Alvarez R, Bernal S, Jaakson K, Baiget M, Navarro R, Ayuso C
Molecular Vision 2006; 12: 902-908.

Development of a Genotyping Microarray for Usher Syndrome
Cremers FP, Kimberling WJ, Kulm M, de Brouwer A, van Wijk E, Te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, Debaere E, Leroy BP, Silvestri G, McKay G, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H.
J Med Genet. 2006 Sep 8.

Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up

Gardner P, Oitmaa E, Messner A, Hoefsloot L, Metspalu A, Schrijver I.
Pediatrics. 2006 Sep; 118(3): 985-94.

2005

Evaluation of arrayed primer extension for TP53 mutation detection in breast and ovarian carcinomas
Kringen P, Bergamaschi A, Due EU, Wang Y, Tagliabue E, Nesland JM, Nehman A, Tönisson N, Børresen-Dale AL.
Biotechniques. 2005 Nov; 39(5): 755-61.

Genotyping microarray (disease chip) for leber congenital amaurosis: detection of modifier alleles
Zernant J, Kulm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R.
Invest Ophthalmol Vis Sci. 2005 Sep; 46(9): 3052-9.

Genotyping Microarray for the Detection of More Than 200 CFTR Mutations in Ethnically Diverse Populations
Schrijver I, Oitmaa E, Metspalu A, Gardner P.
J Mol Diagn. 2005 Aug; 7(3): 375-87.

Arrayed primer extension resequencing of mutations in the TP53 tumor suppressor gene: comparison with denaturing HPLC and direct sequencing

Le Calvez F, Ahman A, Tonisson N, Lambert J, Temam S, Brennan P, Zaridze DG, Metspalu A, Hainaut P.
Clin Chem. 2005 Jul; 51(7): 1284-7.

2004

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa
Klevering BJ, Yzer S, Rohrschneider K, Zonneveld M, Allikmets R, van den Born LI, Maugeri A, Hoyng CB, Cremers FPM.
European Journal of Human Genetics (2004); 12: 1024–1032.

2003

Evaluation of a microarray for genotyping polymorphisms related to xenobiotic metabolism and DNA repair
Landi S, Gemignani F, Gioia-Patricola L, Chabrier A, Canzian F.
BioTechniques 2003, Vol. 35, pp. 816-827.

Genotyping Microarray (Gene Chip) for the ABCR (ABCA4) Gene

Jaakson K, Zernant J, Kulm M, Hutchinson A, Tonisson N, Glavac¡ D, Ravnik-Glavac¡ M, Hawlina M, Meltzer MR, Caruso RC, Testa F, Maugeri A, Hoyng CB, Gouras P, Simonelli F, Lewis RA, Lupski JR, Cremers FPM, and Allikmets R
Hum Mutat 2003; 22: 395–403.

2002

Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray
Gemignani F, Perra C, Landi S, Canzian F, Kurg A, Tõnisson N, Galanello R, Cao A, Metspalu A, Romeo G.
Clin Chem. 2002 Nov; 48(11): 2051-4.

A first-generation linkage disequilibrium map of human chromosome 22
Dawson E, Abecasis GR, Bumpstead S, Chen Y, Hunt S, Beare DM, Pabial J, Dibling T, Tinsley E, Kirby S, Carter D, Papaspyridonos M, Livingstone S, Ganske R, Lõhmussaar E, Zernant J, Tõnisson N, Remm M, Mägi R, Puurand T, Vilo J, Kurg A, Rice K, Deloukas P, Mott R, Metspalu A, Bentley DR, Cardon LR, Dunham I.
Nature. 2002 Aug 1; 418(6897): 544-8. Epub 2002 Jul 10.

Evaluating the arrayed primer extension resequencing assay of TP53 tumor suppressor gene
Tõnisson N, Zernant J, Kurg A, Pavel H, Slavin G, Roomere H, Meiel A, Hainaut P, Metspalu A.
Proc Natl Acad Sci U S A. 2002 Apr 16; 99(8): 5503-8.

2000

Unravelling genetic data by arrayed primer extension
Tõnisson N, Kurg A, Kaasik K, Lõhmussaar E, Metspalu A.
Clin Chem Lab Med. 2000 Feb;38(2):165-70.

Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology
Kurg A, Tõnisson N, Georgiou I, Shumaker J, Tollett J, Metspalu A.
Genet Test. 2000;4(1):1-7.