Publications related to APEX-based applications

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.

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. 2010 Dec 15.

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 Dec;30(12-13):1170-7.

Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia.

Teek R, Kruustük K, Zordania R, Joost K, Reimand T, Möls T, Oitmaa E, Kahre T, Tõnisson N, Ounap K.

Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1007-12. Epub 2010 Jun 18.

Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.

Rodriguez-Paris J, Pique L, Colen T, Roberson J, Gardner P, Schrijver I.

PLoS One. 2010 Jul 26;5(7):e11804.

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.e3. Epub 2010 Jun 29.

Fibrinogen beta variants confer protection against coronary artery disease in a Greek case-control study.

Theodoraki EV, Nikopensius T, Suhorutsenko J, Peppes V, Fili P, Kolovou G, Papamikos V, Richter D, Zakopoulos N, Krjutskov K, Metspalu A, Dedoussis GV.

BMC Med Genet. 2010 Feb 18;11:28.

Genetic polymorphisms associated with outcome in multiple myeloma patients receiving high-dose melphalan.

Dumontet C, Landi S, Reiman T, Perry T, Plesa A, Bellini I, Barale R, Pilarski LM, Troncy J, Tavtigian S, Gemignani F.

Bone Marrow Transplant. 2010 Aug;45(8):1316-24. Epub 2009 Dec 7.

Genotyping microarray for CSNB-associated genes.

Zeitz C, Labs S, Lorenz B, Forster U, Uksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer JC, Hüffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W.

Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5919-26. Epub 2009 Jul 2.

Microarray of SNPs for diverse applications in commercial pig breeding.

Kaminiski S, Brym P, Help H, Rusc A, Wójcik E.

Pol J Vet Sci. 2009;12(1):69-74.

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.

Genetic analysis of presbycusis by arrayed primer extension.

Rodriguez-Paris J, Ballay C, Inserra M, Stidham K, Colen T, Roberson J, Gardner P, Schrijver I.

Ann Clin Lab Sci. 2008 Autumn;38(4):352-60.

Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphisms.

Papasavva T, Kalikas I, Kyrri A, Kleanthous M.

Ann N Y Acad Sci. 2008 Aug;1137:302-8.

Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.

Gojová L, Jansová E, Külm M, Pouchlá S, Kozák L.

Clin Genet. 2008 May;73(5):441-52. Epub 2007 Mar 25.

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.

SNiPORK - a microarray of SNPs in candidate genes potentially associated with pork yield and quality - development and validation in commercial breeds.

Kaminski S, Help H, Brym P, Rusc A, Wójcik E.

Anim Biotechnol. 2008;19(1):43-69.

DNA microarray based on arrayed-primer extension technique for identification of pathogenic fungi responsible for invasive and superficial mycoses.

Campa D, Tavanti A, Gemignani F, Mogavero CS, Bellini I, Bottari F, Barale R, Landi S, Senesi S.

J Clin Microbiol. 2008 Mar;46(3):909-15. Epub 2007 Dec 26.

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, Fiddler MB.

J Mol Diagn. 2007 Apr;9(2):228-36. Erratum in: J Mol Diagn. 2008 Jan;10(1):109.

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.

Noninvasive prenatal diagnostic assay for the detection of beta-thalassemia.

Papasavva T, Kalakoutis G, Kalikas I, Neokli E, Papacharalambous S, Kyrri A, Kleanthous M.

Ann N Y Acad Sci. 2006 Sep;1075:148-53.

Development of a genotyping microarray for Usher syndrome.

Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, 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, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H.

J Med Genet. 2007 Feb;44(2):153-60. Epub 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.

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

Zernant J, Külm 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.

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

Jaakson K, Zernant J, Külm 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 FP, Allikmets R. Hum Mutat. 2003 Nov;22(5):395-403.