Xavier Estivill

Xavier Estivill

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Xavier Estivill

Xavier Estivill

Publications by authors named "Xavier Estivill"

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Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

Authors:
Hunna J Watson Zeynep Yilmaz Laura M Thornton Christopher Hübel Jonathan R I Coleman Héléna A Gaspar Julien Bryois Anke Hinney Virpi M Leppä Manuel Mattheisen Sarah E Medland Stephan Ripke Shuyang Yao Paola Giusti-Rodríguez Ken B Hanscombe Kirstin L Purves Roger A H Adan Lars Alfredsson Tetsuya Ando Ole A Andreassen Jessica H Baker Wade H Berrettini Ilka Boehm Claudette Boni Vesna Boraska Perica Katharina Buehren Roland Burghardt Matteo Cassina Sven Cichon Maurizio Clementi Roger D Cone Philippe Courtet Scott Crow James J Crowley Unna N Danner Oliver S P Davis Martina de Zwaan George Dedoussis Daniela Degortes Janiece E DeSocio Danielle M Dick Dimitris Dikeos Christian Dina Monika Dmitrzak-Weglarz Elisa Docampo Laramie E Duncan Karin Egberts Stefan Ehrlich Geòrgia Escaramís Tõnu Esko Xavier Estivill Anne Farmer Angela Favaro Fernando Fernández-Aranda Manfred M Fichter Krista Fischer Manuel Föcker Lenka Foretova Andreas J Forstner Monica Forzan Christopher S Franklin Steven Gallinger Ina Giegling Johanna Giuranna Fragiskos Gonidakis Philip Gorwood Monica Gratacos Mayora Sébastien Guillaume Yiran Guo Hakon Hakonarson Konstantinos Hatzikotoulas Joanna Hauser Johannes Hebebrand Sietske G Helder Stefan Herms Beate Herpertz-Dahlmann Wolfgang Herzog Laura M Huckins James I Hudson Hartmut Imgart Hidetoshi Inoko Vladimir Janout Susana Jiménez-Murcia Antonio Julià Gursharan Kalsi Deborah Kaminská Jaakko Kaprio Leila Karhunen Andreas Karwautz Martien J H Kas James L Kennedy Anna Keski-Rahkonen Kirsty Kiezebrink Youl-Ri Kim Lars Klareskog Kelly L Klump Gun Peggy S Knudsen Maria C La Via Stephanie Le Hellard Robert D Levitan Dong Li Lisa Lilenfeld Bochao Danae Lin Jolanta Lissowska Jurjen Luykx Pierre J Magistretti Mario Maj Katrin Mannik Sara Marsal Christian R Marshall Morten Mattingsdal Sara McDevitt Peter McGuffin Andres Metspalu Ingrid Meulenbelt Nadia Micali Karen Mitchell Alessio Maria Monteleone Palmiero Monteleone Melissa A Munn-Chernoff Benedetta Nacmias Marie Navratilova Ioanna Ntalla Julie K O'Toole Roel A Ophoff Leonid Padyukov Aarno Palotie Jacques Pantel Hana Papezova Dalila Pinto Raquel Rabionet Anu Raevuori Nicolas Ramoz Ted Reichborn-Kjennerud Valdo Ricca Samuli Ripatti Franziska Ritschel Marion Roberts Alessandro Rotondo Dan Rujescu Filip Rybakowski Paolo Santonastaso André Scherag Stephen W Scherer Ulrike Schmidt Nicholas J Schork Alexandra Schosser Jochen Seitz Lenka Slachtova P Eline Slagboom Margarita C T Slof-Op 't Landt Agnieszka Slopien Sandro Sorbi Beata Świątkowska Jin P Szatkiewicz Ioanna Tachmazidou Elena Tenconi Alfonso Tortorella Federica Tozzi Janet Treasure Artemis Tsitsika Marta Tyszkiewicz-Nwafor Konstantinos Tziouvas Annemarie A van Elburg Eric F van Furth Gudrun Wagner Esther Walton Elisabeth Widen Eleftheria Zeggini Stephanie Zerwas Stephan Zipfel Andrew W Bergen Joseph M Boden Harry Brandt Steven Crawford Katherine A Halmi L John Horwood Craig Johnson Allan S Kaplan Walter H Kaye James E Mitchell Catherine M Olsen John F Pearson Nancy L Pedersen Michael Strober Thomas Werge David C Whiteman D Blake Woodside Garret D Stuber Scott Gordon Jakob Grove Anjali K Henders Anders Juréus Katherine M Kirk Janne T Larsen Richard Parker Liselotte Petersen Jennifer Jordan Martin Kennedy Grant W Montgomery Tracey D Wade Andreas Birgegård Paul Lichtenstein Claes Norring Mikael Landén Nicholas G Martin Preben Bo Mortensen Patrick F Sullivan Gerome Breen Cynthia M Bulik

Nat Genet 2019 Aug 15;51(8):1207-1214. Epub 2019 Jul 15.

Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

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http://dx.doi.org/10.1038/s41588-019-0439-2DOI Listing
August 2019

eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.

Hum Mutat 2019 Jul 21;40(7):865-878. Epub 2019 May 21.

Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.

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http://dx.doi.org/10.1002/humu.23772DOI Listing
July 2019

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

Authors:
Nicole M Warrington Robin N Beaumont Momoko Horikoshi Felix R Day Øyvind Helgeland Charles Laurin Jonas Bacelis Shouneng Peng Ke Hao Bjarke Feenstra Andrew R Wood Anubha Mahajan Jessica Tyrrell Neil R Robertson N William Rayner Zhen Qiao Gunn-Helen Moen Marc Vaudel Carmen J Marsit Jia Chen Michael Nodzenski Theresia M Schnurr Mohammad H Zafarmand Jonathan P Bradfield Niels Grarup Marjolein N Kooijman Ruifang Li-Gao Frank Geller Tarunveer S Ahluwalia Lavinia Paternoster Rico Rueedi Ville Huikari Jouke-Jan Hottenga Leo-Pekka Lyytikäinen Alana Cavadino Sarah Metrustry Diana L Cousminer Ying Wu Elisabeth Thiering Carol A Wang Christian T Have Natalia Vilor-Tejedor Peter K Joshi Jodie N Painter Ioanna Ntalla Ronny Myhre Niina Pitkänen Elisabeth M van Leeuwen Raimo Joro Vasiliki Lagou Rebecca C Richmond Ana Espinosa Sheila J Barton Hazel M Inskip John W Holloway Loreto Santa-Marina Xavier Estivill Wei Ang Julie A Marsh Christoph Reichetzeder Letizia Marullo Berthold Hocher Kathryn L Lunetta Joanne M Murabito Caroline L Relton Manolis Kogevinas Leda Chatzi Catherine Allard Luigi Bouchard Marie-France Hivert Ge Zhang Louis J Muglia Jani Heikkinen Camilla S Morgen Antoine H C van Kampen Barbera D C van Schaik Frank D Mentch Claudia Langenberg Jian'an Luan Robert A Scott Jing Hua Zhao Gibran Hemani Susan M Ring Amanda J Bennett Kyle J Gaulton Juan Fernandez-Tajes Natalie R van Zuydam Carolina Medina-Gomez Hugoline G de Haan Frits R Rosendaal Zoltán Kutalik Pedro Marques-Vidal Shikta Das Gonneke Willemsen Hamdi Mbarek Martina Müller-Nurasyid Marie Standl Emil V R Appel Cilius E Fonvig Caecilie Trier Catharina E M van Beijsterveldt Mario Murcia Mariona Bustamante Sílvia Bonas-Guarch David M Hougaard Josep M Mercader Allan Linneberg Katharina E Schraut Penelope A Lind Sarah E Medland Beverley M Shields Bridget A Knight Jin-Fang Chai Kalliope Panoutsopoulou Meike Bartels Friman Sánchez Jakob Stokholm David Torrents Rebecca K Vinding Sara M Willems Mustafa Atalay Bo L Chawes Peter Kovacs Inga Prokopenko Marcus A Tuke Hanieh Yaghootkar Katherine S Ruth Samuel E Jones Po-Ru Loh Anna Murray Michael N Weedon Anke Tönjes Michael Stumvoll Kim F Michaelsen Aino-Maija Eloranta Timo A Lakka Cornelia M van Duijn Wieland Kiess Antje Körner Harri Niinikoski Katja Pahkala Olli T Raitakari Bo Jacobsson Eleftheria Zeggini George V Dedoussis Yik-Ying Teo Seang-Mei Saw Grant W Montgomery Harry Campbell James F Wilson Tanja G M Vrijkotte Martine Vrijheid Eco J C N de Geus M Geoffrey Hayes Haja N Kadarmideen Jens-Christian Holm Lawrence J Beilin Craig E Pennell Joachim Heinrich Linda S Adair Judith B Borja Karen L Mohlke Johan G Eriksson Elisabeth E Widén Andrew T Hattersley Tim D Spector Mika Kähönen Jorma S Viikari Terho Lehtimäki Dorret I Boomsma Sylvain Sebert Peter Vollenweider Thorkild I A Sørensen Hans Bisgaard Klaus Bønnelykke Jeffrey C Murray Mads Melbye Ellen A Nohr Dennis O Mook-Kanamori Fernando Rivadeneira Albert Hofman Janine F Felix Vincent W V Jaddoe Torben Hansen Charlotta Pisinger Allan A Vaag Oluf Pedersen André G Uitterlinden Marjo-Riitta Järvelin Christine Power Elina Hyppönen Denise M Scholtens William L Lowe George Davey Smith Nicholas J Timpson Andrew P Morris Nicholas J Wareham Hakon Hakonarson Struan F A Grant Timothy M Frayling Debbie A Lawlor Pål R Njølstad Stefan Johansson Ken K Ong Mark I McCarthy John R B Perry David M Evans Rachel M Freathy

Nat Genet 2019 05 1;51(5):804-814. Epub 2019 May 1.

Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Royal Devon and Exeter Hospital, Exeter, UK.

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http://dx.doi.org/10.1038/s41588-019-0403-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6522365PMC
May 2019

Dysregulation of the Wnt signaling pathway in South African patients with diffuse systemic sclerosis.

Clin Rheumatol 2019 Mar 20;38(3):933-938. Epub 2018 Sep 20.

Division of Rheumatology, School of Clinical Medicine, University of the Witwatersrand, Johannesburg, 2001, South Africa.

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http://link.springer.com/10.1007/s10067-018-4298-5
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http://dx.doi.org/10.1007/s10067-018-4298-5DOI Listing
March 2019

Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02.

Nat Commun 2019 03 8;10(1):1150. Epub 2019 Mar 8.

St. John's Institute of Dermatology, King's College London, London, Guy's Hospital, London, SE1 9RT, UK.

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http://dx.doi.org/10.1038/s41467-019-09117-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6408457PMC
March 2019

Allele balance bias identifies systematic genotyping errors and false disease associations.

Hum Mutat 2019 Jan 23;40(1):115-126. Epub 2018 Nov 23.

Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.

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http://doi.wiley.com/10.1002/humu.23674
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http://dx.doi.org/10.1002/humu.23674DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587442PMC
January 2019

PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome.

Circ Res 2019 Jan;124(1):114-120

From the Department of Neurology, Neurovascular Research Group, Hospital del Mar Medical Research Institute, Universitat Autònoma de Barcelona/DCEXS-Universitat Pompeu Fabra (M.M.-C., C.S.-T., E.G.-S., A.R.-C., A.O., E.C.-G., R.M.V.-H., J.R., J.J.-C.).

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https://www.ahajournals.org/doi/10.1161/CIRCRESAHA.118.31353
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http://dx.doi.org/10.1161/CIRCRESAHA.118.313533DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501820PMC
January 2019

miRTrace reveals the organismal origins of microRNA sequencing data.

Genome Biol 2018 12 4;19(1):213. Epub 2018 Dec 4.

Science for Life Laboratory, Department of Molecular Biosciences, The Wenner-Gren Institute, Stockholm University, Stockholm, Sweden.

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http://dx.doi.org/10.1186/s13059-018-1588-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280396PMC
December 2018

Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics.

Hum Mol Genet 2018 02;27(4):742-756

Institute of Biomedical and Clinical Science, University of Exeter Medical School, University of Exeter, Royal Devon and Exeter Hospital, Exeter EX2 5DW, UK.

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http://dx.doi.org/10.1093/hmg/ddx429DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886200PMC
February 2018

The acute effects of ultraviolet radiation on the blood transcriptome are independent of plasma 25OHD.

Environ Res 2017 11 18;159:239-248. Epub 2017 Sep 18.

King's College London (KCL), St John's Institute of Dermatology, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.envres.2017.07.045DOI Listing
November 2017

Signatures of positive selection reveal a universal role of chromatin modifiers as cancer driver genes.

Sci Rep 2017 10 13;7(1):13124. Epub 2017 Oct 13.

Bioinformatics and Genomics Program, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr. Aiguader 88, 08003, Barcelona, Spain.

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http://dx.doi.org/10.1038/s41598-017-12888-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640613PMC
October 2017

Survey of 800+ data sets from human tissue and body fluid reveals xenomiRs are likely artifacts.

RNA 2017 04 6;23(4):433-445. Epub 2017 Jan 6.

Science for Life Laboratory, Department of Molecular Biosciences, The Wenner-Gren Institute, Stockholm University, S-10691 Stockholm, Sweden.

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http://dx.doi.org/10.1261/rna.059725.116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340907PMC
April 2017

Contribution of the TTC21B gene to glomerular and cystic kidney diseases.

Nephrol Dial Transplant 2017 01;32(1):151-156

Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1093/ndt/gfv453DOI Listing
January 2017

Genetic characteristics of rheumatic patients developing inflammatory skin lesions induced by biologic therapy.

Reumatol Clin 2015 Mar-Apr;11(2):126-7. Epub 2014 Sep 11.

Servicio de Reumatología, Hospital del Mar, Parc de Salut Mar, Universidad Autónoma de Barcelona, Barcelona, España.

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http://dx.doi.org/10.1016/j.reuma.2014.07.007DOI Listing
December 2016

Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome.

J Invest Dermatol 2016 07 30;136(7):1490-1499. Epub 2016 Mar 30.

Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr. Aiguader 88, Barcelona 08003, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Spain; CIBER in Epidemiology and Public Health (CIBERESP), Barcelona, Spain; Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain; Experimental Genetics, Sidra Medical and Research Centre, Doha, Qatar. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.03.024DOI Listing
July 2016

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.

Hum Mutat 2016 06 15;37(6):516-23. Epub 2016 Apr 15.

Unit of Medical Genomics, Department of Obstetrics, Gynaecology and Reproduction, Dexeus Women's Health, Barcelona, Spain.

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http://dx.doi.org/10.1002/humu.22989DOI Listing
June 2016

Specific small-RNA signatures in the amygdala at premotor and motor stages of Parkinson's disease revealed by deep sequencing analysis.

Bioinformatics 2016 03 2;32(5):673-81. Epub 2015 Nov 2.

Genomics and Disease Group, Bioinformatics and Genomics Programme, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology, Barcelona 08003, Spain, Universitat Pompeu Fabra (UPF), Barcelona 08003, Spain, IMIM, Hospital del Mar Medical Research Institute, Barcelona 08003, Spain, CIBER de Epidemiología y Salud Pública (CIBERESP), CRG, Instituto Carlos III Barcelona 08003, Spain.

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http://dx.doi.org/10.1093/bioinformatics/btv632DOI Listing
March 2016

Orexin and sleep quality in anorexia nervosa: Clinical relevance and influence on treatment outcome.

Psychoneuroendocrinology 2016 Mar 21;65:102-8. Epub 2015 Dec 21.

Department of Psychiatry, University Hospital of Bellvitge-IDIBELL, Barcelona, Spain; CIBER Fisiopatología Obesidad y Nutrición (CIBERobn), Instituto Salud Carlos III, Madrid, Spain; Department of Clinical Sciences, School of Medicine, University of Barcelona, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.psyneuen.2015.12.014DOI Listing
March 2016

Tying malaria and microRNAs: from the biology to future diagnostic perspectives.

Malar J 2016 Mar 15;15:167. Epub 2016 Mar 15.

ISGlobal, Barcelona Ctr. Int. Health Res. (CRESIB), Hospital Clínic-Universitat de Barcelona, Carrer Rosselló 153 (CEK building), 08036, Barcelona, Spain.

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http://dx.doi.org/10.1186/s12936-016-1222-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4793504PMC
March 2016

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

Hum Mol Genet 2015 Oct 17;24(20):5677-86. Epub 2015 Jul 17.

Bioinformatics and Genomics Program, Centre for Genomic Regulation (CRG), Barcelona, Spain, Universitat Pompeu Fabra (UPF), Barcelona, Spain, Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain, CRG CIBER de Epidemiología y Salud Pública (CIBERESP), Barcelona, Catalonia 08003, Spain, Dexeus Women's Health, University Hospital Quiron-Dexeus, Barcelona, Catalonia 08028, Spain

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http://dx.doi.org/10.1093/hmg/ddv281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692992PMC
October 2015

Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.

Eur J Hum Genet 2015 Sep 19;23(9):1192-9. Epub 2014 Nov 19.

1] Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain [2] Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1038/ejhg.2014.252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538209PMC
September 2015

Circulating Betatrophin Levels Are Increased in Anorexia and Decreased in Morbidly Obese Women.

J Clin Endocrinol Metab 2015 Sep 14;100(9):E1188-96. Epub 2015 Jul 14.

Grupo Fisiopatología Endocrina (S.B.-F., C.F., L.M.S., C.C.), Instituto de Investigación Sanitaria de Santiago de Compostela, Complejo Hospitalario, Departamento de Pediatría (S.B.-F.), Universitario de Santiago de Compostela, 15705 Santiago de Compostela, Spain; Centro de Investigación Biomédica en Red Fisiopatología Obesidad y Nutrición (S.B.-F., L.M.S., F.F.C., C.D., Z.A., R.B., C.B., R.d.l.T., J.C.F.-G., J.M.F.-R., G.F., J.G.-A., S.J.-M., F.J.T., F.F.-A., R.N.), Instituto Salud Carlos III, 28029 Madrid, Spain; Department of Physiology (C.F., C.D., R.N.), Center for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela-Instituto de Investigación Sanitaria, Santiago de Compostela, 15782, Spain; Department of Psychiatry (Z.A., S.J.-M., F.F.-A.), University Hospital of Bellvitge-Institut d"Investigació Biomèdica de Bellvitge, 08907 Barcelona, Spain; Department of Psychological, Personality, Evaluation, and Treatment (R.B.), University of Valencia, 46022 Valencia, Spain; Department of Basic Psychology, Clinic, and Psychobiology (C.B.), University Jaume I, 12071 Castelló, Spain; Human Pharmacology and Clinical Neurosciences Research Group (R.d.l.T.), Neuroscience Research Program, Hospital del Mar Medical Research Institute, Center for Genomic Regulation (X.E.), and Centro de Investigación Biomédica en Red en Epidemiología y Salud Pública (X.E.), 08003 Barcelona, Spain; Department of Experimental and Health Sciences (R.d.l.T.), Universitat Pompeu Fabra Barcelona, 08950 Barcelona, Spain; Department of Diabetes, Endocrinology, and Nutrition (J.C.F.-G., F.J.T.), Hospital Clínico Universitario Virgen de Victoria (IBIMA), 29010 Málaga, Spain; Department of Diabetes, Endocrinology, and Nutrition (J.M.F.-R.), Institut d'Investigació Biomèdica de Girona, Hospital Dr Josep Trueta, 17007 Girona, Spain; Department of Endocrinology and Nutrition (G.F., J.G.-A.), Clínica Universidad de Navarra, University of Navarra, Institut

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http://dx.doi.org/10.1210/JC.2015-1595DOI Listing
September 2015

Switching to zebrafish neurobehavioral models: The obsessive-compulsive disorder paradigm.

Eur J Pharmacol 2015 Jul 24;759:142-50. Epub 2015 Mar 24.

ZeClinics SL, DCEXS-UPF, Barcelona, Spain; Pompeu Fabra University (UPF), Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejphar.2015.03.027DOI Listing
July 2015

Genetic variation and alternative splicing.

Authors:
Xavier Estivill

Nat Biotechnol 2015 Apr;33(4):357-9

Center for Genomic Regulation (CRG), Pompeu Fabra University (UPF), and Dexeus Women's Health, Quiron-Dexeus University Institute, Barcelona, Spain.

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http://dx.doi.org/10.1038/nbt.3195DOI Listing
April 2015

Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.

Nat Commun 2015 Apr 23;6:6916. Epub 2015 Apr 23.

1] State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Anhui Medical University, Hefei, Anhui 230032, China [2] Key Lab of Dermatology (Anhui Medical University), Ministry of Education, Hefei, Anhui 230032, China [3] Collaborative Innovation Center for Complex and Severe Skin Diseases, Anhui Medical University, Hefei, Anhui 230032, China [4] Department of Human Genetics, Genome Institute of Singapore, A*STAR, Singapore 138672, Singapore [5] Saw Swee Hock School of Public Health, National University of Singapore, National University Health System, Singapore, 138672, Singapore [6] School of Life Sciences, Anhui Medical University, Hefei, Anhui 230032, China.

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http://dx.doi.org/10.1038/ncomms7916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4423213PMC
April 2015

A novel common variant in DCST2 is associated with length in early life and height in adulthood.

Authors:
Ralf J P van der Valk Eskil Kreiner-Møller Marjolein N Kooijman Mònica Guxens Evangelia Stergiakouli Annika Sääf Jonathan P Bradfield Frank Geller M Geoffrey Hayes Diana L Cousminer Antje Körner Elisabeth Thiering John A Curtin Ronny Myhre Ville Huikari Raimo Joro Marjan Kerkhof Nicole M Warrington Niina Pitkänen Ioanna Ntalla Momoko Horikoshi Riitta Veijola Rachel M Freathy Yik-Ying Teo Sheila J Barton David M Evans John P Kemp Beate St Pourcain Susan M Ring George Davey Smith Anna Bergström Inger Kull Hakon Hakonarson Frank D Mentch Hans Bisgaard Bo Chawes Jakob Stokholm Johannes Waage Patrick Eriksen Astrid Sevelsted Mads Melbye Cornelia M van Duijn Carolina Medina-Gomez Albert Hofman Johan C de Jongste H Rob Taal André G Uitterlinden Loren L Armstrong Johan Eriksson Aarno Palotie Mariona Bustamante Xavier Estivill Juan R Gonzalez Sabrina Llop Wieland Kiess Anubha Mahajan Claudia Flexeder Carla M T Tiesler Clare S Murray Angela Simpson Per Magnus Verena Sengpiel Anna-Liisa Hartikainen Sirkka Keinanen-Kiukaanniemi Alexandra Lewin Alexessander Da Silva Couto Alves Alexandra I Blakemore Jessica L Buxton Marika Kaakinen Alina Rodriguez Sylvain Sebert Marja Vaarasmaki Timo Lakka Virpi Lindi Ulrike Gehring Dirkje S Postma Wei Ang John P Newnham Leo-Pekka Lyytikäinen Katja Pahkala Olli T Raitakari Kalliope Panoutsopoulou Eleftheria Zeggini Dorret I Boomsma Maria Groen-Blokhuis Jorma Ilonen Lude Franke Joel N Hirschhorn Tune H Pers Liming Liang Jinyan Huang Berthold Hocher Mikael Knip Seang-Mei Saw John W Holloway Erik Melén Struan F A Grant Bjarke Feenstra William L Lowe Elisabeth Widén Elena Sergeyev Harald Grallert Adnan Custovic Bo Jacobsson Marjo-Riitta Jarvelin Mustafa Atalay Gerard H Koppelman Craig E Pennell Harri Niinikoski George V Dedoussis Mark I Mccarthy Timothy M Frayling Jordi Sunyer Nicholas J Timpson Fernando Rivadeneira Klaus Bønnelykke Vincent W V Jaddoe

Hum Mol Genet 2015 Feb 3;24(4):1155-68. Epub 2014 Oct 3.

Department of Epidemiology, Department of Paediatrics, The Generation R Study Group,

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http://hmg.oxfordjournals.org/content/early/2014/10/03/hmg.d
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http://www.copsac.com/userfiles/2015_Van_der_Valk_Hum_Mol_Ge
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http://www.uni-potsdam.de/fileadmin/projects/eem/Paper_2015/
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu510
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http://dx.doi.org/10.1093/hmg/ddu510DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4447786PMC
February 2015

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Mol Genet Genomic Med 2014 Sep 23;2(5):412-21. Epub 2014 May 23.

Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain ; Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1002/mgg3.82DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190876PMC
September 2014

Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system.

Pain 2014 Jun 26;155(6):1102-9. Epub 2014 Feb 26.

Genomics and Disease Group, Centre for Genomic Regulation (CRG), Dr. Aiguader 88, 08003 Barcelona, Catalonia, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Catalonia, Spain; Institut Hospital del Mar d'Investigacions Mèdiques (IMIM), 08003 Barcelona, Catalonia, Spain; Centro de Investigación Biomédica en Red en Epidemiología y Salud Pública (CIBERESP), Barcelona, Catalonia, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.pain.2014.02.016DOI Listing
June 2014

Cluster analysis of clinical data identifies fibromyalgia subgroups.

PLoS One 2013 30;8(9):e74873. Epub 2013 Sep 30.

Genomics and Disease Group, Centre for Genomic Regulation (CRG), Barcelona, Spain ; Universitat Pompeu Fabra (UPF), Barcelona, Spain ; Centro de Investigación Biomédica en Red en Epidemiología y Salud Pública (CIBERESP), Barcelona, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0074873PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3787018PMC
May 2014

Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes.

Neurobiol Dis 2014 May 10;65:43-54. Epub 2014 Jan 10.

Genomics and Disease Group, Bioinformatics and Genomics Programme, Centre for Genomic Regulation (CRG), Barcelona 08003, Catalonia, Spain; Universitat Pompeu Fabra (UPF), Barcelona 08003, Catalonia, Spain; Hospital del Mar Medical Research Institute (IMIM), Barcelona 08003, Catalonia, Spain; CIBER de Epidemiología y Salud Pública (CIBERESP), CRG, Barcelona 08003, Catalonia, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2013.12.020DOI Listing
May 2014

Association of irisin with fat mass, resting energy expenditure, and daily activity in conditions of extreme body mass index.

Int J Endocrinol 2014 22;2014:857270. Epub 2014 Apr 22.

Laboratory of Molecular and Cellular Endocrinology, Health Research Institute of Santiago (IDIS), University Hospital of Santiago (XXIS/SERGAS) and Santiago de Compostela University (USC), 15706 Santiago de Compostela, Spain ; CIBER Fisiopatología de la Obesidad y la Nutrición (CIBERobn), 15706 Santiago de Compostela, Spain.

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http://dx.doi.org/10.1155/2014/857270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016898PMC
May 2014

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.

Eur J Hum Genet 2014 Apr 14;22(4):528-34. Epub 2013 Aug 14.

1] Genomics and Disease Group, Bioinformatics and Genomics Programme, Centre for Genomic Regulation (CRG), Barcelona, Spain [2] Universitat Pompeu Fabra (UPF), Barcelona, Spain [3] Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain [4] CIBER in Epidemiology and Public Health (CIBERESP), Barcelona, Spain.

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http://dx.doi.org/10.1038/ejhg.2013.175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953903PMC
April 2014

ALDH5A1 variability in opioid dependent patients could influence response to methadone treatment.

Eur Neuropsychopharmacol 2014 Mar 18;24(3):420-4. Epub 2013 Oct 18.

Institut de Neuropsiquiatria i Addicions, Hospital del Mar, Barcelona, Spain; Institut Hospital del Mar d'Investigacions Mèdiques (IMIM), Barcelona, Spain; Psychiatry and Pharmacology Departments, Autonomous University of Barcelona, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.euroneuro.2013.10.003DOI Listing
March 2014

Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence.

PLoS Genet 2014 Mar 20;10(3):e1004208. Epub 2014 Mar 20.

Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra (Barcelona), Spain; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.

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http://dx.doi.org/10.1371/journal.pgen.1004208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3961182PMC
March 2014

Small non-coding RNAs add complexity to the RNA pathogenic mechanisms in trinucleotide repeat expansion diseases.

Front Mol Neurosci 2013 Dec 3;6:45. Epub 2013 Dec 3.

Genomics and Disease, Bioinformatics and Genomics Programme, Centre for Genomic Regulation Barcelona, Spain ; Universitat Pompeu Fabra Barcelona, Spain.

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http://dx.doi.org/10.3389/fnmol.2013.00045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848198PMC
December 2013

Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories.

Nat Biotechnol 2013 Nov 15;31(11):1015-22. Epub 2013 Sep 15.

1] Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. [2] Netherlands Bioinformatics Centre, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/nbt.2702DOI Listing
November 2013

Upregulation of a small vault RNA (svtRNA2-1a) is an early event in Parkinson disease and induces neuronal dysfunction.

RNA Biol 2013 Jul 1;10(7):1093-106. Epub 2013 May 1.

Genetic Causes of Disease Group; Centre for Genomic Regulation (CRG); Barcelona, Spain; Universitat Pompeu Fabra (UPF); Barcelona, Spain; Universitat de Barcelona; Barcelona, Spain.

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http://dx.doi.org/10.4161/rna.24813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849157PMC
July 2013

The interaction between Comt and Bdnf variants influences obsessive-compulsive-related dysfunctional beliefs.

J Anxiety Disord 2013 Apr 15;27(3):321-7. Epub 2013 Mar 15.

OCD Clinical and Research Unit, Psychiatry Department, Hospital de Bellvitge, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.janxdis.2013.02.012DOI Listing
April 2013

Val66Met BDNF genotypes in melancholic depression: effects on brain structure and treatment outcome.

Depress Anxiety 2013 Mar 16;30(3):225-33. Epub 2012 Nov 16.

Department of Psychiatry, Bellvitge University Hospital-IDIBELL, Feixa Llarga s/n, Barcelona, Spain.

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http://doi.wiley.com/10.1002/da.22025
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http://dx.doi.org/10.1002/da.22025DOI Listing
March 2013

A pathogenic mechanism in Huntington's disease involves small CAG-repeated RNAs with neurotoxic activity.

PLoS Genet 2012 23;8(2):e1002481. Epub 2012 Feb 23.

Genes and Disease Programme, Centre for Genomic Regulation and Universitat Pompeu Fabra, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1371/journal.pgen.1002481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3285580PMC
February 2013

A highly expressed miR-101 isomiR is a functional silencing small RNA.

BMC Genomics 2013 Feb 15;14:104. Epub 2013 Feb 15.

Molecular and Cellular Neurobiotechnology Group, Institut de Bioenginyeria de Catalunya, Parc Científic de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1186/1471-2164-14-104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751341PMC
February 2013

Screening for the presence of FMR1 premutation alleles in women with fibromyalgia.

Gene 2013 Jan 27;512(2):305-8. Epub 2012 Oct 27.

Biochemistry and Molecular Genetics Department, Hospital Clínic, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.gene.2012.10.016DOI Listing
January 2013

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.

Authors:
Momoko Horikoshi Hanieh Yaghootkar Dennis O Mook-Kanamori Ulla Sovio H Rob Taal Branwen J Hennig Jonathan P Bradfield Beate St Pourcain David M Evans Pimphen Charoen Marika Kaakinen Diana L Cousminer Terho Lehtimäki Eskil Kreiner-Møller Nicole M Warrington Mariona Bustamante Bjarke Feenstra Diane J Berry Elisabeth Thiering Thiemo Pfab Sheila J Barton Beverley M Shields Marjan Kerkhof Elisabeth M van Leeuwen Anthony J Fulford Zoltán Kutalik Jing Hua Zhao Marcel den Hoed Anubha Mahajan Virpi Lindi Liang-Kee Goh Jouke-Jan Hottenga Ying Wu Olli T Raitakari Marie N Harder Aline Meirhaeghe Ioanna Ntalla Rany M Salem Karen A Jameson Kaixin Zhou Dorota M Monies Vasiliki Lagou Mirna Kirin Jani Heikkinen Linda S Adair Fowzan S Alkuraya Ali Al-Odaib Philippe Amouyel Ehm Astrid Andersson Amanda J Bennett Alexandra I F Blakemore Jessica L Buxton Jean Dallongeville Shikta Das Eco J C de Geus Xavier Estivill Claudia Flexeder Philippe Froguel Frank Geller Keith M Godfrey Frédéric Gottrand Christopher J Groves Torben Hansen Joel N Hirschhorn Albert Hofman Mads V Hollegaard David M Hougaard Elina Hyppönen Hazel M Inskip Aaron Isaacs Torben Jørgensen Christina Kanaka-Gantenbein John P Kemp Wieland Kiess Tuomas O Kilpeläinen Norman Klopp Bridget A Knight Christopher W Kuzawa George McMahon John P Newnham Harri Niinikoski Ben A Oostra Louise Pedersen Dirkje S Postma Susan M Ring Fernando Rivadeneira Neil R Robertson Sylvain Sebert Olli Simell Torsten Slowinski Carla M T Tiesler Anke Tönjes Allan Vaag Jorma S Viikari Jacqueline M Vink Nadja Hawwa Vissing Nicholas J Wareham Gonneke Willemsen Daniel R Witte Haitao Zhang Jianhua Zhao James F Wilson Michael Stumvoll Andrew M Prentice Brian F Meyer Ewan R Pearson Colin A G Boreham Cyrus Cooper Matthew W Gillman George V Dedoussis Luis A Moreno Oluf Pedersen Maiju Saarinen Karen L Mohlke Dorret I Boomsma Seang-Mei Saw Timo A Lakka Antje Körner Ruth J F Loos Ken K Ong Peter Vollenweider Cornelia M van Duijn Gerard H Koppelman Andrew T Hattersley John W Holloway Berthold Hocher Joachim Heinrich Chris Power Mads Melbye Mònica Guxens Craig E Pennell Klaus Bønnelykke Hans Bisgaard Johan G Eriksson Elisabeth Widén Hakon Hakonarson André G Uitterlinden Anneli Pouta Debbie A Lawlor George Davey Smith Timothy M Frayling Mark I McCarthy Struan F A Grant Vincent W V Jaddoe Marjo-Riitta Jarvelin Nicholas J Timpson Inga Prokopenko Rachel M Freathy

Nat Genet 2013 Jan 2;45(1):76-82. Epub 2012 Dec 2.

Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1038/ng.2477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3605762PMC
January 2013

Association between the NMDA glutamate receptor GRIN2B gene and obsessive-compulsive disorder.

J Psychiatry Neurosci 2012 Jul;37(4):273-81

OCD Clinical and Research Unit, Psychiatry Department, Hospital Universitari de Bellvitge, Barcelona, Spain.

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http://dx.doi.org/10.1503/jpn.110109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3380099PMC
July 2012

DNA hypomethylation at ALOX12 is associated with persistent wheezing in childhood.

Am J Respir Crit Care Med 2012 May 9;185(9):937-43. Epub 2012 Feb 9.

Center for Research in Environmental Epidemiology, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1164/rccm.201105-0870OCDOI Listing
May 2012

Common variants at 12q15 and 12q24 are associated with infant head circumference.

Nat Genet 2012 Apr 15;44(5):532-538. Epub 2012 Apr 15.

Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ng.2238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773913PMC
April 2012

A non-biased framework for the annotation and classification of the non-miRNA small RNA transcriptome.

Bioinformatics 2011 Nov 5;27(22):3202-3. Epub 2011 Oct 5.

Genetic Causes of Disease, Genes and Disease Programme, Centre for Genomic Regulation (CRG) and UPF, Barcelona, Spain.

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http://dx.doi.org/10.1093/bioinformatics/btr527DOI Listing
November 2011

MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function.

Hum Mol Genet 2011 Aug 10;20(15):3067-78. Epub 2011 May 10.

Genetic Causes of Disease Group, Genes and Disease Program, Centre for Genomic Regulation, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1093/hmg/ddr210DOI Listing
August 2011

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Human microRNAs miR-22, miR-138-2, miR-148a, and miR-488 are associated with panic disorder and regulate several anxiety candidate genes and related pathways.

Biol Psychiatry 2011 Mar 17;69(6):526-33. Epub 2010 Dec 17.

Genes and Disease Program, Centre for Genomic Regulation (CRG), Public Health and Epidemiology Network Biomedical Research Center (CIBERESP), Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1016/j.biopsych.2010.10.010DOI Listing
March 2011

Maternal C-reactive protein levels in pregnancy are associated with wheezing and lower respiratory tract infections in the offspring.

Am J Obstet Gynecol 2011 Feb 25;204(2):164.e1-9. Epub 2010 Oct 25.

Center for Research in Environmental Epidemiology, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1016/j.ajog.2010.08.056DOI Listing
February 2011

Cancer: When catastrophe strikes a cell.

Nature 2011 Feb;470(7335):476-7

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http://dx.doi.org/10.1038/470476aDOI Listing
February 2011

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

Nat Genet 2010 Nov 17;42(11):985-90. Epub 2010 Oct 17.

Wellcome Trust Centre for Human Genetics, Oxford, UK.

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http://dx.doi.org/10.1038/ng.694DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3749730PMC
November 2010