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Andres Metspalu
Researcher at University of Tartu
Publications - 620
Citations - 123584
Andres Metspalu is an academic researcher from University of Tartu. The author has contributed to research in topics: Genome-wide association study & Population. The author has an hindex of 144, co-authored 583 publications receiving 101156 citations. Previous affiliations of Andres Metspalu include Estonian Biocentre & Asper Biotech.
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Journal ArticleDOI
Epigenetic profiling in CD4+ and CD8+ T cells from Graves' disease patients reveals changes in genes associated with T cell receptor signaling.
Maia Limbach,Mario Saare,Liina Tserel,Kai Kisand,Triin Eglit,Sascha Sauer,Tomas Axelsson,Ann-Christine Syvänen,Andres Metspalu,Lili Milani,Pärt Peterson +10 more
TL;DR: The results demonstrate an involvement of dysregulated DNA methylation and histone modifications at T cell signaling genes in GD patients.
Journal ArticleDOI
De Novo SCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders
Ulvi Vaher,Margit Nõukas,Tiit Nikopensius,Mart Kals,Tarmo Annilo,Mari Nelis,Katrin Õunap,Tiia Reimand,Inga Talvik,Pilvi Ilves,Andres Piirsoo,Enn Seppet,Andres Metspalu,Tiina Talvik +13 more
TL;DR: In this paper, the cause of early infantile epileptic encephalopathy in a boy with neonatal seizures, movement disorders, and multiple congenital anomalies who died at the age of 17 months because of respiratory illness was identified.
Journal ArticleDOI
The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.
Loyse Hippolyte,Anne M. Maillard,Borja Rodriguez-Herreros,Aurélie Pain,Sandra Martin-Brevet,Carina Ferrari,Philippe Conus,Aurélien Macé,Aurélien Macé,Nouchine Hadjikhani,Andres Metspalu,Anu Reigo,Anneli Kolk,Katrin Männik,Katrin Männik,Mandy Barker,Bertrand Isidor,Cédric Le Caignec,Cyril Mignot,Laurence Schneider,Laurent Mottron,Boris Keren,Albert David,Martine Doco-Fenzy,Marion Gérard,Raphael Bernier,Robin P. Goin-Kochel,Ellen Hanson,Lee Anne Green Snyder,Franck Ramus,Jacques S. Beckmann,Jacques S. Beckmann,Bogdan Draganski,Bogdan Draganski,Alexandre Reymond,Sébastien Jacquemont +35 more
TL;DR: The simultaneous study of reciprocal CNVs suggests that the 16p11.2 genomic locus modulates specific cognitive skills according to the number of genomic copies, which is reminiscent of special isolated skills as well as contrasting language performance observed in autism spectrum disorder.
Journal ArticleDOI
Genome-wide genetic homogeneity between sexes and populations for human height and body mass index
Jian Yang,Andrew Bakshi,Zhihong Zhu,Gibran Hemani,Anna A. E. Vinkhuyzen,Ilja M. Nolte,Jana V. van Vliet-Ostaptchouk,Harold Snieder,Tõnu Esko,Lili Milani,Reedik Mägi,Andres Metspalu,Anders Hamsten,Patrik K. E. Magnusson,Nancy L. Pedersen,Erik Ingelsson,Peter M. Visscher +16 more
TL;DR: Two distinct genome-wide methods are used to estimate the autosomal genetic correlation between men and women for human height and body mass index, and it is shown that the between-sex genetic correlation is not significantly different from unity for both traits.
Journal ArticleDOI
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function
Daniel I. Chasman,Christian Fuchsberger,Cristian Pattaro,Alexander Teumer,Carsten A. Böger,Karlhans Endlich,Matthias Olden,Ming-Huei Chen,Adrienne Tin,Daniel Taliun,Man Li,Xiaoyi Gao,Mathias Gorski,Mathias Gorski,Qiong Yang,Claudia Hundertmark,Meredith C. Foster,Conall M. O'Seaghdha,Nicole L. Glazer,Aaron Isaacs,Aaron Isaacs,Ching-Ti Liu,Albert V. Smith,Jeffrey R. O'Connell,Maksim Struchalin,Toshiko Tanaka,Guo Li,Andrew D. Johnson,Hinco J. Gierman,Mary F. Feitosa,Shih-Jen Hwang,Elizabeth J. Atkinson,Kurt Lohman,Marilyn C. Cornelis,Åsa Johansson,Anke Tönjes,Abbas Dehghan,Jean-Charles Lambert,Elizabeth G. Holliday,Rossella Sorice,Zoltán Kutalik,Zoltán Kutalik,Terho Lehtimäki,Tõnu Esko,Harshal Deshmukh,Sheila Ulivi,Audrey Y. Chu,Federico Murgia,Stella Trompet,Medea Imboden,Medea Imboden,Stefan Coassin,Giorgio Pistis,Tamara B. Harris,Lenore J. Launer,Thor Aspelund,Gudny Eiriksdottir,Braxton D. Mitchell,Eric Boerwinkle,Helena Schmidt,Margherita Cavalieri,Madhumathi Rao,Frank B. Hu,Ayse Demirkan,Ayse Demirkan,Ben A. Oostra,Ben A. Oostra,Mariza de Andrade,Stephen T. Turner,Jingzhong Ding,Jeanette S. Andrews,Barry I. Freedman,Franco Giulianini,Wolfgang Koenig,Thomas Illig,Christa Meisinger,Christian Gieger,Lina Zgaga,Lina Zgaga,Tatijana Zemunik,Mladen Boban,Cosetta Minelli,Heather E. Wheeler,Wilmar Igl,Ghazal Zaboli,Sarah H. Wild,Alan F. Wright,Harry Campbell,David Ellinghaus,Ute Nöthlings,Gunnar Jacobs,Reiner Biffar,Florian Ernst,Georg Homuth,Heyo K. Kroemer,Matthias Nauck,Sylvia Stracke,Uwe Völker,Henry Völzke,Peter Kovacs,Michael Stumvoll,Reedik Mägi,Albert Hofman,André G. Uitterlinden,Fernando Rivadeneira,Yurii S. Aulchenko,Ozren Polasek,Nicholas D. Hastie,Veronique Vitart,Catherine Helmer,Jie Jin Wang,Jie Jin Wang,Bénédicte Stengel,Daniela Ruggiero,Sven Bergmann,Mika Kähönen,Jorma Viikari,Tiit Nikopensius,Michael A. Province,Shamika Ketkar,Helen M. Colhoun,Alex S. F. Doney,Antonietta Robino,Bernhard K. Krämer,Laura Portas,Ian Ford,Brendan M. Buckley,Martin Adam,Gian Andri Thun,Bernhard Paulweber,Margot Haun,Cinzia Sala,Paul Mitchell,Marina Ciullo,Stuart K. Kim,Peter Vollenweider,Olli T. Raitakari,Andres Metspalu,Colin N. A. Palmer,Paolo Gasparini,Mario Pirastu,J. Wouter Jukema,Nicole Probst-Hensch,Nicole Probst-Hensch,Florian Kronenberg,Daniela Toniolo,Vilmundur Gudnason,Alan R. Shuldiner,Josef Coresh,Reinhold Schmidt,Luigi Ferrucci,David S. Siscovick,Cornelia M. van Duijn,Ingrid B. Borecki,Sharon L.R. Kardia,Yongmei Liu,Gary C. Curhan,Igor Rudan,Ulf Gyllensten,James F. Wilson,Andre Franke,Peter P. Pramstaller,Rainer Rettig,Inga Prokopenko,Jacqueline C. M. Witteman,Caroline Hayward,Paul M. Ridker,Afshin Parsa,Murielle Bochud,Iris M. Heid,Iris M. Heid,W. H. Linda Kao,Caroline S. Fox,Caroline S. Fox,Anna Köttgen,Anna Köttgen +175 more
TL;DR: A strategy for integrating prior biological knowledge into the existing GWAS data for eGFR from the CKDGen Consortium is developed, focusing on single nucleotide polymorphism (SNPs) in genes that are connected by functional evidence, determined by literature mining and gene ontology (GO) hierarchies, to genes near previously validated eG FR associations.