Name: Andres Metspalu
 
Date and place of birth: March 11, 1951, Estonia
Marital status: Married, four children

Citizenship:

Estonian

 
  Home:
Address: 65 Kalevi St.
Tartu 50103
Estonia
Office:
Address: Institute of Molecular and Cell Biology
Tartu University
Estonian Biocentre
23 Riia St. 51010 Tartu
Estonia
Phone: (372) 7 375 066;
Fax: (372) 7 420 286
E-mail: andres@ ebc.ee
Web: http://www.biotech.ebc.ee/
 
  Professional History:

1976

M.D., Tartu University

1979

Ph.D., in Molecular Biology, Structure and function of the Eukaryotic ribosome

Institute of Molecular Genetics, Ukrainian Acad. of Sciences, Kiev

Advisor: Prof. Artur Lind, M.D. and D.Sc.

 

1981 – 1982

Columbia University, New York, USA. Prof. Alex Tzagaloff laboratory 

 

1982

Yale University, New Haven, USA. Prof. Joan Steitz laboratory

 

1982 – 1984

Senior scientist at the Laboratory of Molecular Biology, Tartu University.

 

1985

European Molecular Biology Laboratory (EMBL), Heidelberg, Germany. Prof. Riccardo Cortese laboratory. Two month fellowship from European Society of Biochemistry (FEBS)

 

1985 – 1992      

Head of Laboratory of Gene Expression, Tartu University

 

1988

Max-Planck Institute of Molecular Genetics, Wittman, West-Berlin, Germany. One month fellowship from European Molecular Biology Organization (EMBO)

 

1986 – 1992

Research Director of the Estonian Biocentre. I directed a research group focused on isolation and characterization of human ribosomal protein genes. We could isolate several new cDNA clones and have characterized them. I was also responsible and worked actively in developing a subunit vaccine against E.coli K99 infection in young calves and studied bovine leukemia virus (BLV) trying to use it as a DNA transfer vector. This study was completed in 1996.

 

1991

FEBS Advanced Course, Patras, Greece. “Application of DNA Methods for the Diagnosis of Human Disease”. FEBS fellowship.

 

1991

Visiting scientist at University of Tampere, Finland

 

1991-1992

Visiting scientist at Hamburg University, Dept. of Molecular Biology, Germany. Prof. Joachim Kruppa laboratory. Two months fellowship from DAAD.

 

1992 – 

Professor of Biotechnology at University of Tartu 

 

1993

Three months research grant from EEC to study hRP protein S6 gene at University of Hamburg, H. Pette Institute for Experimental Immunology.

 

1993 –1994

Sabbatical leave, visiting professor at Baylor College of Medicine, Dept. of Molecular and Human Genetics with Prof. C.T. Caskey.

 

1996 – 2001 and 2004 – …

Second appointment as Head of Molecular Diagnostics Centre at TartuUniversity Children’s Hospital

 

2000

IARC, Lyon, France, The Visiting Scientist Award

2004 - ... Member of the Board, Estonian Genome Project
2004 - ... European Society of Human Genetics, Member of Executive Board and President Elect

 

 
  Scientific Boards and Professional Societies:

1988-1990

Member of the Expert Council of Soviet Union Human Genome program

1994 - …

Member of European Society of Human Genetics

1995 - …

Member of American Society of Human Genetics (ASHG)

1995 - …

Member of The Human Genome Organization (HUGO)

1996-2001

Member of Tartu University Council

1997-2000, 
2003 - …

Member of Estonian Council of Scientific Competence (advisory body for distributing and supervising funds for science)

1999 - …

Member of Estonian Society of Human Genetics

2000 - 2005

Member of the board of European Society of Human Genetics (ESHG)

2001 - 2005

European Science Foundation Functional Genomics Program: Member of steering committee

2003

Journal “Heredity Cancer in Clinical Practice” editorial board member

2004 Journal "Clinical Genetics" editorial Board member
2006 - ... Journal "Central European Journal of Biology" editorial Board Member
 
 
Honours:

1980

Soviet Estonian Prize for Science

2001

3rd Class Order of the Estonian Red Cros

2002

Prix de la Garantie Medicale et Chirurgical

2003

Estonian Science Prize in Medicine

2004

L'Ordre des Palmes Académiques, Chevalier

 
  Publications:

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
R. G. Walters, S. Jacquemont, A. Valsesia, A. J. de Smith, D. Martinet, J. Andersson, M. Falchi, F. Chen, J. Andrieux, S. Lobbens, B. Delobel, F. Stutzmann, J. S. El-Sayed Moustafa, J.-C. Chèvre, C. Lecoeur, V. Vatin, S. Bouquillon, J. L. Buxton, O. Boute, M. Holder-Espinasse, J.-M. Cuisset, M.-P. Lemaitre, A.-E. Ambresin, A. Brioschi, M. Gaillard, V. Giusti, F. Fellmann, A. Ferrarini, N. Hadjikhani, D. Campion, A. Guilmatre, A. Goldenberg, N. Calmels, J.-L. Mandel, C. Le Caignec, A. David, B. Isidor, M.-P. Cordier, S. Dupuis-Girod, A. Labalme, D. Sanlaville, M. Béri-Dexheimer, P. Jonveaux, B. Leheup, K. Õunap, E. G. Bochukova, E. Henning, J. Keogh, R. J. Ellis, K. D. MacDermot, M. M. van Haelst, C. Vincent-Delorme, G. Plessis, R. Touraine, A. Philippe, V. Malan, M. Mathieu-Dramard, J. Chiesa, B. Blaumeiser, R. F. Kooy, R. Caiazzo, M. Pigeyre, B. Balkau, R. Sladek, S. Bergmann, V. Mooser, D. Waterworth, A. Reymond, P. Vollenweider, G. Waeber, A. Kurg, P. Palta, T. Esko, A. Metspalu, M. Nelis, P. Elliott, A.-L. Hartikainen, M. I. McCarthy, L. Peltonen, L. Carlsson, P. Jacobson, L. Sjöström, N. Huang, M. E. Hurles, S. O’Rahilly, I. S. Farooqi, K. Männik, M.-R. Jarvelin, F. Pattou, D. Meyre, A. J. Walley, L. J. M. Coin, A. I. F. Blakemore, P. Froguel & J. S. Beckmann
Nature 463, 671-675 (4 February 2010)

ROS1 Asp2213Asn polymorphism is not associated with coronary artery
disease in a Greek case-control study.
Theodoraki EV, Nikopensius T, Suhorutšenko J, Papamikos V, Kolovou GD,
Peppes V, Panagiotakos D, Limberi S, Zakopoulos N, Metspalu A,
Dedoussis GV.
Clin Chem Lab Med. 2009 Oct 28.

Nikopensius T, Ambrozaitytė L, Ludwig KU, Birnbaum S, Jagomägi T, Saag M, Matulevičienė A, Linkevičienė L, Herms S, Knapp M, Hoffmann P, Nöthen MM, Kučinskas V, Metspalu A, Mangold E.
Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients.
Am J Med Genet A. 2009 Oct 16;149A(11):2551-2553.
 

M. Kuningas, L. May, R. Tamm, D. van Bodegom, A H.J. van den Biggelaar,
J. J. Meij, M. Frölich, J. B. Ziem, H. E.D. Suchiman,  A. Metspalu, E. P. Slagboom and R. G.J. Westendorp.
Selection for Genetic Variation Inducing Pro-Inflammatory Responses under Adverse Environmental Conditions in a Ghanaian Population. PlosOne, 2009.

Lips EH, Gaborieau V, McKay JD, Chabrier A, Hung RJ, Boffetta P, Hashibe M, Zaridze D, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Mates D, Bencko V, Foretova L, Janout V, Field JK, Liloglou T, Xinarianos G, McLaughlin J, Liu G, Skorpen F, Elvestad MB, Hveem K, Vatten L, Study E, Benhamou S, Lagiou P, Holc?tov? I, Merletti F, Kjaerheim K, Agudo A, Castellsagué X, Macfarlane TV, Barzan L, Canova C, Lowry R, Conway DI, Znaor A, Healy C, Curado MP, Koifman S, Eluf-Neto J, Matos E, Menezes A, Fernandez L, Metspalu A, Heath S, Lathrop M, Brennan P.
Association between a 15q25 gene variant, smoking quantity and tobacco-related cancers among 17 000 individuals.
Int J Epidemiol. 2009 Sep 23.

Serotonin transporter promoter region polymorphisms do not influence treatment response to escitalopram in patients with major depression.
Maron E, Tammiste A, Kallassalu K, Eller T, Vasar V, Nutt DJ, Metspalu A.
Eur Neuropsychopharmacol. 2009 Jun;19(6):451-6.

Mari Nelis, Tõnu Esko, Reedik Mägi, Fritz Zimprich, Alexander Zimprich, Draga Toncheva, Sena Karachanak, Tereza Piskáčková, Ivan Balaščák, Leena Peltonen, Eveliina Jakkula, Karola Rehnström, Mark Lathrop, Simon Heath, Pilar Galan, Stefan Schreiber, Thomas Meitinger, Arne Pfeufer, H-Erich Wichmann, Béla Melegh, Noémi Polgár, Daniela Toniolo, Paolo Gasparini, Pio D'Adamo, Janis Klovins, Liene Nikitina-Zake, Vaidutis Kučinskas, Jūratė Kasnauskienė, Jan Lubinski, Tadeusz Debniak, Svetlana Limborska, Andrey Khrunin, Xavier Estivill, Raquel Rabionet, Sara Marsal, Antonio Julià, Stylianos E. Antonarakis, Samuel Deutsch, Christelle Borel, Homa Attar, Maryline Gagnebin, Milan Macek, Michael Krawczak, Maido Remm, Andres Metspalu
Genetic Structure of Europeans: a view from the North-East
PlosOne 2009, http://dx.plos.org/10.1371/journal.pone.0005472 

Khrunin A, Mihailov E, Nikopensius T, Krjutškov K, Limborska S, Metspalu A. 
Analysis of Allele and Haplotype Diversity Across 25 Genomic Regions in Three Eastern European Populations.
Hum Hered 2009;68:35-44 (DOI: 10.1159/000210447)

Lagiou P, Georgila C, Minaki P, Ahrens W, Pohlabeln H, Benhamou S, Bouchardy C, Slamova A, Schejbalova M, Merletti F, Richiardi L, Kjaerheim K, Agudo A, Castellsague X, Macfarlane TV, Macfarlane GJ, Talamini R, Barzan L, Canova C, Simonato L, Lowry R, Conway DI, McKinney PA, Znaor A, McCartan BE, Healy C, Nelis M, Metspalu A, Marron M, Hashibe M, Brennan PJ.
Alcohol-related cancers and genetic susceptibility in Europe: the ARCAGE
project: study samples and data collection.Eur J Cancer Prev. 2008 Sep 30. [Epub ahead of print]
PMID: 18830131 [PubMed - as supplied by publisher]

Saare M, Belousova A, Punab M, Peters M, Haller K, Ausmees K, Poolamets O,
Karro H, Metspalu A, Salumets A.
Androgen receptor gene haplotype is associated with male infertility.Int J Androl. 2008 Aug;31(4):395-402.
PMID: 17651405 [PubMed - indexed for MEDLINE]

Maron E, Kallassalu K, Tammiste A, Kolde R, Vilo J, Tõru I, Vasar V, Shlik
J, Metspalu A.
Peripheral gene expression profiling of CCK-4-induced panic in healthy
subjects.Am J Med Genet B Neuropsychiatr Genet. 2008 Dec 2. [Epub ahead of print]
PMID: 19051287 [PubMed - as supplied by publisher]

Signe Altmae, Kadri Haller, Maire Peters, Merli Saare, Outi Hovatta, Anneli Stavreus-Evers, Agne Velthut, Helle Karro, Andres Metspalu, Andres Salumets,
Aromatase gene (CYP19A1) allele variants are essential to controlled ovarian hyperstimulation outcome 
RBMOnline, Volume 17, No 3, September 2008 

Pullat, J., Kusnezow, W., Jaakson, K., Beier, M., Hoheisel, J.D., Metspalu, A., Arrayed Primer Extension on
in situ Synthesized 5'→3' Oligonucleotides in Microchannels, New Biotechnology (2008), August 14, PMID: 18786662
  

Riin Tamm, Kersti Oselin, Kristi Kallassalu, Reedik Mägi, Kaili Anier, Maido Remm, Andres Metspalu
Thiopurine S-methyltransferase (TPMT) pharmacogenetics: three new mutations and haplotype analysis in the Estonian population
Clin Chem Lab Med 2008;46(7):974-979
 
Pullat J, Metspalu A. Arrayed primer extension reaction for genotyping on oligonucleotide microarray.
Methods Mol Biol. 2008;444:161-7

Kaarel Krjutškov, Reidar Andreson, Reedik Mägi, Tiit Nikopensius, Andrey Khrunin, Evelin Mihailov, Veronika Tammekivi, Helena Sork, Maido Remm and Andres Metspalu
Development of a single tube 640-plex genotyping method for detection of nucleic acid variations on microarrays
Nucleic Acids Research, 2008, 1–7, doi:10.1093/nar/gkn357

Pullat, Janne; Metspalu, Andres. Arrayed primer extension reaction for genotyping on oligonucleotide microarray. In Methods in Molecular Biology: Prenatal Diagnosis: Preface. Ed by S. Hahn, L.G. Jackson. Prenatal Diagnosis (435), Series: Methods in Molecular Biology , Vol. 444 ISBN: 978-1-58829-803-4. Humana Press [in Press]
 
Saare M, Belousova A, Punab M, Peters M, Haller K, Ausmees K, Poolamets O, Karro H, Metspalu A, Salumets A. Androgen receptor gene haplotype is associated with male infertility. Int J Androl. 2007 Jul 25.
 

Pullat J, Fleisher R, Becker N, Beier M, Metspalu A, Hoheisel JD.
Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.
BMC Genomics 2007 Aug 17, 8:282
 
Magi R, Pfeufer A, Nelis M, Montpetit A, Metspalu A, Remm M.
Evaluating the performance of commercial whole-genome marker sets for capturing common genetic variation.
BMC Genomics. 2007 Jun 11;8:159.
 
Altmae, S., Haller, K., Peters, M., Hovatta, O., Stavreus-Evers, A., Karro, H., Metspalu, A., Salumets, A. Allelic estrogen receptor 1 (ESR1) gene variants predict the outcome of ovarian stimulation in in vitro fertilization. Molecular Human Reproduction, May 30, 2007.
 
International Patent Application;
A method to determine single nucleotide polymorphisms and mutations in nucleic acid sequence, application #PCT/EE2007/000003.

US Patent Application: Method and Apparatus for Detection and Analysis of Biological Materials through Laser Induced Fluorescence, application #US11/584934.

Kõks, S., Nikopensius, T., Koido, K., Maron, E., Altmäe, S., Heinaste, E., Vabrit, K., Tammekivi, V., Hallast, P., Kurg, A., Shlik, J., Vasar, V., Metspalu, A., Vasar, E. (2006) Analysis of SNP profiles in patients with major depressive disorder.  
Int. J. Neuropsychopharmacol. 9 (2): 167-174.

Gardner P, Oitmaa E, Messner A, Hoefsloot L, Metspalu A, Schrijver I.
Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.
Pediatrics. 2006 Sep;118(3):985-94.

Shadrina M, Nikopensius T, Slominsky P, Illarioshkin S, Bagyeva G, Markova E, Ivanova-Smolenskaia I, Kurg A, Limborska S, Metspalu A.
Association study of sporadic Parkinson's disease genetic risk factors in patients from Russia by APEX technology.
Neurosci Lett. 2006 Sep 25;405(3):212-6. Epub 2006 Jul 28.  

Alexandre Montpetit, Mari Nelis, Philippe Laflamme, Reedik Magi, Xiayi Ke, Maido Remm, Lon Cardon, Thomas J Hudson, and Andres Metspalu
An Evaluation of the Performance of Tag SNPs Derived from HapMap in a Caucasian Population.
PLoS Genet. 2006 Mar 10;2(3):e27

S. Altmäe, A. Runina, M. Kuningas, T. Kahre, M. Peters, A. Ehrenberg, H. Karro, A. Salumets, A. Metspalu. Loote reesusstaatuse mitte-invasiivne diagnostika - prenataalse diagnostika uus võimalus Eestis.
Eesti Arst 12/2005: 847-853.
 
Schrijver I, Oitmaa E, Metspalu A, Gardner P.
Genotyping Microarray for the Detection of More Than 200 CFTR Mutations in Ethnically Diverse Populations. J Mol Diagn. 2005 Aug;7(3):375-87
 
Eensaar R, Metspalu A, L'Estonie parie sur les biotechnologies. Biofutur 257: 51-54.

Le Calvez F, Ahman A, Tonisson N, Lambert J, Temam S, Brennan P, Zaridze DG, Metspalu A, Hainaut P.
Arrayed Primer Extension Resequencing of Mutations in the TP53 Tumor Suppressor Gene: Comparison with Denaturing HPLC and Direct Sequencing. Clin Chem. 2005 Jul;51(7):1284-7.

Koks S, Nikopensius T, Koido K, Maron E, Altmae S, Heinaste E, Vabrit K, Tammekivi V, Hallast P, Kurg A, Shlik J, Vasar V, Metspalu A, Vasar E.
Analysis of SNP profiles in patients with major depressive disorder.
Int. J. Neuropsychopharmacol. 2005 Jun 1, pp. 1-8

Maron E., Nikopensius T., Kõks S., Altmäe S., Heinaste E., Vabrit K., Tammekivi V., Hallast P., Koido K., Kurg A., Metspalu A., Vasar E., Vasar V., Shlik J.  Association study of 90 candidate gene polymorphisms in panic disorder.  Psychiatric Genet., 2005, 15(1):17-24.

Jakob C. Mueller*, Elin Lõhmussaar*, Reedik Mägi, Maido Remm, Thomas Bettecken, Peter Lichtner, Saskia Biskup, Thomas Illig, Arne Pfeufer, Jan Luedemann, Stefan Schreiber, Peter Pramstaller, Irene Pichler, Giovanni Romeo, Anthony Gaddi, Alessandra Testa, Heinz-Erich Wichmann, Andres Metspalu and Thomas Meitinger. Linkage disequilibrium patterns and tagSNP transferability among European populations. Am J Hum Genet 2005 Jan 6;76 (3).


Koido K., Kõks S., Nikopensius T., Maron E., Altmäe S., Heinaste E., Vabrit K., Tammekivi V., Hallast P., Kurg A., Shlik J., Vasar V., Metspalu A., Vasar E.  Polymorphisms in wolframin (WFS1) gene are possibly related to increased risk for mood disorders. Int. J. Neuropsychopharmacol., 2005, 8(2): 235-244.
  
Andres Metspalu (2004), “The Estonian Genome Project”,  Drug Development Research 62: 97-102.
 
Metspalu, A., Köhler, F., Laschinski, G., Ganten, D., Roots, I., "Das estnische Genomprojekt in Kontext der europäischen Genomforschung", Dtsch. Med. Wochenschr 2004; 129: S25-S28.

Kahre, T., Teder, M., Panov, M., Metspalu, A.. "Severe CF manifestation with anaemia and failure to thrive in a 394delTT homozygous patient. Journal of Cystic Fibrosis, Vol 3 (2004): 58-60.

Salumets A, Horelli-Kuitunen N, Suikkari AM, Metspalu A, Tuuri T. 
Elevated incidence of chromosomally chaotic embryos among frozen-thawed
preimplantation embryos.
Eur J Obstet Gynecol Reprod Biol. 2004 May 10;114(1):59-63. 

Reedik Mägi, Andres Metspalu, Maido Remm. “gtSNPs – Haplotype tagging method”. Provisional Patent Application. EV 333 492 345 US, May 21, 2003.

Remm, M., Kurg, A. Metspalu, A. PCR Technology: Current Innovations, 2nd Edition. pp: 131-140. CRC Press, USA, November 2003. ISBN 0-8493-1184-5

Metspalu, A. “Microarrays and Single Nucleotide Polymorphism (SNP) genotyping”. In: Nature Encyclopedia of the Human Genome. Nature Publishing Group.  2003. pp. 921-925.

Gemignani, F., Perra, C., Landi, St., Canzian, F., Kurg, A., Tõnisson, N., Galanello, R., Cao, A., Metsplau, A. and Romeo, G. “Reliable detection of b-Thalassemia and G6PD mutations by a DNA microarray”. Clinical Chemistry 48 No. 11 (2002)

Andres Metspalu “Biotechnology as an instrument of politics. The example of Estonia.” 17th Sinclair House debate “Who owns the human genome?” Herbert Quandt Foundation, March 2002: 43-45 ISBN 3-00-008926-8

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, Lohmussaar E, Zernant J, Tonisson 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 “A First-Generation Linkage Disequilibrium Map of Human Chromosome 22” Nature 418 (2002), 544 – 548.

Andres Metspalu. Comment to Gísli Pálsson and Kristín E. Hardardóttir “For Whom the Cell Tolls” Current Anthropology 43 (2), 2002: 271-301.

Jaana Tammur, Hiljar Sibul, Ene Ustav, Mart Ustav, Andres Metspalu “A bovine papillomavirus-1 based vector restores the function of the low-density lipoprotein receptor in the receptor-deficient CHO-IdIA7 cell line” BMC Molecular Biology 2002, 3:5. ISSN 1471-2199 http://www.biomedcentral.com/1471-2199/3/5

Maugeri, A., Flothmann, K., Hemmrich, N., Ingvast, S., Jorge, P., Paloma, E., Patel, R., Rozet J.M., Tammur, J., Testa, F., Balcells, S., Bird, A.C., Brunner, H.G., Hoyng, C.B., Metspalu, A., Simonelli, F., Allikmets, R., Bhattacharya, S.S., D'Urso, M., Gonzàlez-Duarte, R., Kaplan, J., te Meerman, G.J., Santos, R., Schwartz, M., Camp G.V., Wadelius, C., Weber, B.H.F., and Cremers, F.P.M. “The ABCG4 2588 G>C Stargardt mutation: single origin and increasing carrier frequency from South-West to North-East Europe”. Eur J Hum Genet. 2002, 10: 197-203.

Tõnisson, N.; J. Zernant, A. Kurg, H. Pavel, G. Slavin, H. Roomere, A. Meiel, P. Hainaut and A. Metspalu. “Evaluating the arrayed primer extension resequencing assay of TP53 tumor suppressor gene”. Proc. Natl. Acad. Sci. USA, 2002, Vol. 99, Issue 8, 5503-5508.

A. Metspalu “ Genes, technology and public dialogue in Tartu, Estonia” Trends in Biotechnology 2002, Feb;2:51-52.

Ana Rebane, Hanno Roomere, Andres Metspalu “Locations of several novel 2'-O-methylated nucleotides in human 28S rRNA” BMC Molecular Biology 2002, 3:1 http://www.biomedcentral.com/content/pdf/1471-2199-3-1.pdf

Remm, M. and A. Metspalu. “High-density genotyping and linkage disequilibrium in the human genome using chromosome 22 as a model”. Current Opinion in Chemical Biology 2002, 6:24-30.

Wittig I, Augstein P, Brown GK, Fujii T, Rotig A, Rustin P, Munnich A, Seibel P, Thorburn D, Wissinger B, Tamboom K, Metspalu A, Lamantea E, Zeviani M, Wehnert MS. “Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain.” Journal Inherited Metabolic Diseases 2001;24(1):15-27.

Teder, M., Klaassen, T., Oitmaa, E., Kaasik, K. and Metspalu, A. Distribution of the CFTR gene mutations in cystic fibrosis patients from Estonia (2000) Journal of Medical Genetics 37e16. (http://jmedgenet.com/cgi/content/full/37/8e16)

Gasparini, P., Rabionet, R., Barbujani, G., Melchionda, S., Petersen, M., Br?ndum-Nielsen, K., Metspalu, A., Oitmaa, E., Pisano, M., Fortina, P., Zelante, L., Estivill, X. High carrier frequency of the deafness mutation 35delG. Europeans Genetic Analysis Consortium of GJB2 35delG. (2000) Eurpean Journal of Human Genetics 8 (1), 19-23.

Kurg, A., Tõnisson, N., Georgiou, I., Shumaker, J., Tollett, J., Metspalu, A. Arrayed Primer Extension: Solid phase four-color DNA resequencing and mutation detection technology (2000) Genetic Testing 4(1), 1-7.

Tõnisson N, Kurg A, Kaasik K, Lõhmussaar E, Metspalu A. Unravelling Genetic Data by Arrayed Primer Extension. Clinical Chemistry and Laboratory Medicine 2000, 38 (2), 165-170.

Hahn, D., Ilisson, R., Metspalu, A. and Sterchi, E.E. Human N-benzoyl-L-Tyrosyl-p-Aminobenzoic Acid Hydrolase (human meprin): genomic structure of alpha and beta subunits. Biochemical Journal (2000) 346, 83-91.

Tõnisson, N., Kurg, A., Lõhmussaar, E., Metspalu, A. Arrayed primer extension on the DNA chip – method and applications. In “Microarray Biochip Technology” Ed by M. Schena (2000) Eaton Publishing. BioTechniques Books ISBN 1-881299-37-6, 247-263.

Auffray C, Mundy C, Metspalu A. 
DNA arrays: methods and applications: report on HUGO Meeting, Tartu, Estonia, 23-26 May, 1999.
Eur J Hum Genet. 2000 Mar;8(3):236-8.

Andres Metspalu, Krista Kaasik, Neeme Tõnisson and Ants Kurg. Oligonucleotide array for mutation analysis in familial breast cancer. (1999) Disease Markers 15 (1-3), 117.

Lilleväli, H., Margus, K., Õunap, K., and Metspalu, A. Mutation A985 G in the MCAD Gene Shows Low Incidence in Estonian Population (1999) Human Mutation Mutation in Brief #295 Online.

Rebane, A. and Metspalu, A. U82, a novel snoRNA identified from the fifth intron of human and mouse nucleon gene (1999) Biochimica et Biophysica Acta 1446, 426-430.

Tensing, K., Pata, I., Wittig, I., Wehnert, M., and Metspalu, A. Genomic organization of the human Complex I 13kDa subunit gene NDUFA5 (1999) Cytogenetics and Cell Genetics 84, 125-127.

Metspalu, A and Shumaker, J.M. “DNA resequencing, mutation detection and gene expression analysis by oligonucleotide microchips” In: "Microsystems Technology: A Powerful Tool for Biomolecular Studies" ed. by M. Köhler, T. Mejevaia and H.P. Saluz (1999) Birkhaeuser Verlag, ISBN 3-7643-5774-6, pp. 371-397.

Rebane, A., Tamme, R., Laan, M., Pata, I. and Metspalu, A. A novel snoRNA (U73) is encoded within the introns of the human and mouse ribosomal proteins S3a genes. (1998) Gene 210, 255-263.

Annilo, T., Jelina, J., Pata, I., and Metspalu, A. Isolation and characterization of a mouse ribosomal protein S7 gene (1998) Biochemistry and Molecular Biology International 46(2), 287-295.

Annilo, T., Karis, A., Hoth, S., Rikk, T., Kruppa, J., Metspalu, A. Nuclear import and nucleolar accumulation of the human ribosomal protein S7 depend on both a minimal nuclear localization sequence and adjacent basic region (1998) Biochemical and Biophysical Research Communications 249(3), 759-766.

Metspalu, A., Saulep, H., Kurg, A., Tõnisson, N., Shumaker, J.M. Primer extension from two-dimensional oligonucleotides grid for DNA sequencing analysis. In: Genomics: Commercial opportunities from a scientific revolution. Ed. By G.K. Dixon, L.G. Copping, D. Livingstone. BIOS Scientific Publishers (1998) ISBN 1-85996-106-1, pp.217-219.

Stephens, J.C., Reich, D.E., Goldstein, D.B., Shain, H.D., Smith, M.W., Carrington, M., Winkler, C., Huttley, G.A., Allikmets, R., Schriml, L., Gerrard, B., Malasky, M., Ramos, M.D., Morlot, S., Tzetis, M., Oddoux, C., di Giovine, F.S., Nasioulas, G., Chandler, D., Aseev, M., Hanson, M., Kalaydjieva, L., Glavac, D., Gasparini, P., Kanavakis, E., Claustres, M., Kambouris, M., Ostrer, H., Duff, G., Baranov, V., Sibul, H., Metspalu, A., Goldman, D., Martin, N., Duffy, D., Schmidtke, J., Estevill, X., O’Brien, S.J., Dean, M. Dating the Origin of the CCR5-Delta32 AIDS-Resistance Allele by the Coalescence of Haplotypes (1998) Am. J. Hum. Genet. 62(6), 1507-1515.

Õunap, K., H. Lilleväli, A. Metspalu, M. Sitska-Lipping (1998). Development of phenylketonuria screening program in Estonia. Journal of Medical Screening 5, 22-23.

Klaassen, T., M. Teder, M. Viikmaa, A. Metspalu (1998). Neonatal screening for the cystic fibrosis main mutation DF508 in Estonia: A pilot study. Journal of Medical Screening, 5, 16-19.

Pastinen, T., Kurg, A., Metspalu, A., Peltonen, L. and Syvänen, A.-C. (1997) Minisequencing: A specific tool for DNA analysis and diagnostics on oligonucleotide arrays. Genome Research 7, 606-614.

Pata, I., Tensing, K. and Metspalu, A. (1997). A human cDNA encoding the homologue of NADH: ubiquinone oxidoreductase subunit B13. Biochimica et Biophysica Acta 1350/2, 115-118.

Lilleväli, H., Õunap, K. and Metspalu, A. (1996) Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes. European Journal of Human Genetics 4, 296-300.

Pata, I. and Metspalu, A. Structural characterization of the mouse ribosomal protein S6-encoding gene. (1996) Gene 175, 241-245.

Õunap, K., Lilleväli, H., Klaassen, T., Metspalu, A. and Sitska, M. Short Report. The incidence and characterization of phenylketonuric patients in Estonia. J. Inher. Metab. Dis. 19 (1996) 381-382.

Shumaker, J.M., Metspalu, A. and Caskey C.T. “Multiplex solid-phase fluorescent primer extension” in "Laboratory protocols for mutation detection" Ed. by Landegren, Ulf, Oxford University Press (1996) 93-95.

Shumaker, J.M., Metspalu, A., Caskey, T.C. Mutation Detection by Solid Phase Primer Extension. (1996) Human Mutation 7, 346-354.

Shumaker, J.M., Metspalu, A., Ngo, T.T., Caskey, C.T. Primer Extension Mutation Detection Method: A Non-Gel Based Method for Rapid Mutation Identification. (1995) The Fifth International Symposium on Human Identification 1994, 147-151. ISBN 1-882274-54-7.

Kurg, A., Sommer, G., and Metspalu, A. An RNA Stem-Loop Structure Involved in the Packaging of Bovine leukemia Virus Genomic RNA in vivo. (1995) Virology 211, 434-442.

Annilo, T., Laan, M., Stahl, J., Metspalu, A. Human ribosomal protein S7 gene - isolation, structure and location in 2p25. (1995) Gene 165, 297-302.

Caskey, T.C., J.M. Shumaker and A. Metspalu. “Parallel Primer Extension Approach to Nucleic Acid Sequence Analysis”. US Patent No. PCT/US94/07086. WO 95/00669.

Pata, I. and Metspalu, A. A Dinucleotide repeat polymorphism at the ribosomal protein S6 (rpS6) gene. Hum. Mol. Genet. 2, 10 (1993) 1749.

Pata I, Hoth S, Kruppa J, Metspalu A. 
The human ribosomal protein S6 gene: isolation, primary structure and location in chromosome 9.
Gene. 1993 May 30;127(2):275-6.

Pata, I., Hoth, S., Kruppa, J., and Metspalu, A. The human ribosomal protein S6 gene: Isolation, primary structure and location in chromosome 9. Gene 121 (1992) 387-392.

Metspalu, A. Diagnostics of heritable diseases by direct analysis of the genes. Estonian Physician 3 (1992) 179-184.

Metspalu, A., Rebane, A., Hoth, S., Pooga, M., Stahl, J., Kruppa, J. Human ribosomal protein S3a: Cloning of the cDNA and primary structure of the protein. Gene 119 (1992) 313-316.

Karis, A., Metspalu, E., Pooga, M., Juhkam, A., Metspalu, A. Development, immunogenicity and protective capacity of K99/F41 pilus vaccine against colibacteriosis in calves. Biotechnology 1 (1992) 71-74. (in russian)

Heymann, S., Sommer, G., Kurg, A., Metspalu, A., Dolganow, G., Frolowa, S., Wagner, H.-J., Blankenstein, P., Risse, S. Rinder-retrovirusvektoren. Patentschrift DD 294042 A5, 1991, BRD.

Steitz, J.A., Berg, C. Hendrick, J.P., La Branche-Chabot, H., Metspalu, A., Rinke, J., Yario,T. A 5S RNA/L5 complex is a precursor to ribosome assembly in mammalian cells. J. Cell Biol. 106 (1988) 545-546.

Dente, L., Pizza, M.-G., Metspalu, A., Cortese, R. Structure and expression of the genes coding for human a1-acid glycoprotein. The EMBO J. 7 (1987) 2289-2296.

Villems, R., Metspalu, A., Speek, M., Toots, I., Saarma, M. Interaction of 5S RNA, 5,8S RNA, tRNA and ribosomal proteins in structure and function of eukaryotic ribosome. Macromolecules in Functioning Cell 1 (1982) 228-238.

Saarma, M., Metspalu, A., Villems, R., Örd, T., Toots, I. 5SRNA and 5,8S RNA build up eukaryotic domains active tRNA binding. FEBS Letters 136 (1981) 255-258.

Toots, I., Metspalu, A., Villems, R., Saarma, M. Location of single-stranded and double-stranded regions in rat-liver ribosomal 5S RNA and 5,8S RNA. Nucl. Acid Res. 9 (1981) 5331-5343.

Metspalu, A., Saarma, M., Villems, R. The Structure and some functions of eukaryotic ribosome. VINITI “Bioorganic chemistry”. Progress in science and techniques 15 (1981) 175-223. (in russian)

Metspalu, A., Toots, I., Saarma, M., Villems, R. Involvement of 5,8S RNA in eukaryotic ribosome interactions. In; “Biological Implication of Protein-Nucleic Acid Interaction”. Ed. by J. Augustinjak. Poznan, 1980, 83-90.

Metspalu, A., Toots, I., Saarma, M., Villems, R. The ternary complex consisting of rat-liver ribosomal 5S RNA, 5,8S RNA and protein L5. FEBS Letters 119 (1980) 81-84.

Metspalu, A. Interaction of 5S RNA, 5,8S RNA and tRNA with rat liver ribosomal proteins. Ph.D. Thesis 1979, Kiev. (in russian)

Villems, R., Metspalu, A., Saarma, M., Toots, I. New aspects of the eukaryotic ribosomal subunit interaction. FEBS Letters 107 (1979) 66-68.

Toots, I., Metspalu, A., Saarma, M., Lind, A., Villems, R. Immobilised eukaryotic 5,8S RNA binds E. coli and rat liver ribosomal proteins. FEBS Letters 104 (1979) 193-196.

Metspalu, A., Saarma, M., Villems, R., Ustav, M., Lind, A. Interaction of 5S RNA, 5,8S RNA and tRNA with rat-liver ribosomal proteins. Eur. J. Biochem. 91 (1978) 73-81.

Ustav, M., Metspalu, A., Villems, R., Saarma, M., Toots, I., Lind, A. GTP-ase and ATP-ase activity of the ribosomes. Proceeding of the symposia “Regulation of the enzymatic systems: adenosine triphosphate systems”. Tartu (1978) 40-49.

Kelve, M., Metspalu, A., Lind, A., Saarma, M., Villems, R. Conformational isomers of rat liver ribosomal 5S RNA. Molecular Biology 12 (1978) 695-699. (in russian)

Lind, A., Metspalu, A., Saarma, M., Toots, I., Ustav, M., Villems, R. Universal structure of the ribosomal peptidyltransferase center and function of the eukaryotic 5,8S rRNA. Bioorganic Chemistry 3 (1977) 1138-1140. (in russian)