Raquel Rabionet

Raquel Rabionet

UNVERIFIED PROFILE

Are you Raquel Rabionet?   Register this Author

Register author
Raquel Rabionet

Raquel Rabionet

Publications by authors named "Raquel Rabionet"

Are you Raquel Rabionet?   Register this Author

35Publications

738Reads

21Profile Views

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/humu.23674
Publisher Site
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.).

View Article

Download full-text PDF

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

An Integrated Data Resource for Genomic Analysis of Cutaneous T-Cell Lymphoma.

J Invest Dermatol 2018 12 5;138(12):2681-2683. Epub 2018 Jul 5.

Department of Dermatology, Columbia University Medical Center, New York, New York, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2018.06.176DOI Listing
December 2018

The mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.

Clin Case Rep 2018 Aug 10;6(8):1452-1456. Epub 2018 Jun 10.

Department of Genetics, Microbiology and Statistics Faculty of Biology University of Barcelona IBUB, IRSJD, CIBERER Barcelona Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ccr3.1603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099046PMC
August 2018

Analysis of shared heritability in common disorders of the brain.

Authors:
Verneri Anttila Brendan Bulik-Sullivan Hilary K Finucane Raymond K Walters Jose Bras Laramie Duncan Valentina Escott-Price Guido J Falcone Padhraig Gormley Rainer Malik Nikolaos A Patsopoulos Stephan Ripke Zhi Wei Dongmei Yu Phil H Lee Patrick Turley Benjamin Grenier-Boley Vincent Chouraki Yoichiro Kamatani Claudine Berr Luc Letenneur Didier Hannequin Philippe Amouyel Anne Boland Jean-François Deleuze Emmanuelle Duron Badri N Vardarajan Christiane Reitz Alison M Goate Matthew J Huentelman M Ilyas Kamboh Eric B Larson Ekaterina Rogaeva Peter St George-Hyslop Hakon Hakonarson Walter A Kukull Lindsay A Farrer Lisa L Barnes Thomas G Beach F Yesim Demirci Elizabeth Head Christine M Hulette Gregory A Jicha John S K Kauwe Jeffrey A Kaye James B Leverenz Allan I Levey Andrew P Lieberman Vernon S Pankratz Wayne W Poon Joseph F Quinn Andrew J Saykin Lon S Schneider Amanda G Smith Joshua A Sonnen Robert A Stern Vivianna M Van Deerlin Linda J Van Eldik Denise Harold Giancarlo Russo David C Rubinsztein Anthony Bayer Magda Tsolaki Petra Proitsi Nick C Fox Harald Hampel Michael J Owen Simon Mead Peter Passmore Kevin Morgan Markus M Nöthen Martin Rossor Michelle K Lupton Per Hoffmann Johannes Kornhuber Brian Lawlor Andrew McQuillin Ammar Al-Chalabi Joshua C Bis Agustin Ruiz Mercè Boada Sudha Seshadri Alexa Beiser Kenneth Rice Sven J van der Lee Philip L De Jager Daniel H Geschwind Matthias Riemenschneider Steffi Riedel-Heller Jerome I Rotter Gerhard Ransmayr Bradley T Hyman Carlos Cruchaga Montserrat Alegret Bendik Winsvold Priit Palta Kai-How Farh Ester Cuenca-Leon Nicholas Furlotte Tobias Kurth Lannie Ligthart Gisela M Terwindt Tobias Freilinger Caroline Ran Scott D Gordon Guntram Borck Hieab H H Adams Terho Lehtimäki Juho Wedenoja Julie E Buring Markus Schürks Maria Hrafnsdottir Jouke-Jan Hottenga Brenda Penninx Ville Artto Mari Kaunisto Salli Vepsäläinen Nicholas G Martin Grant W Montgomery Mitja I Kurki Eija Hämäläinen Hailiang Huang Jie Huang Cynthia Sandor Caleb Webber Bertram Muller-Myhsok Stefan Schreiber Veikko Salomaa Elizabeth Loehrer Hartmut Göbel Alfons Macaya Patricia Pozo-Rosich Thomas Hansen Thomas Werge Jaakko Kaprio Andres Metspalu Christian Kubisch Michel D Ferrari Andrea C Belin Arn M J M van den Maagdenberg John-Anker Zwart Dorret Boomsma Nicholas Eriksson Jes Olesen Daniel I Chasman Dale R Nyholt Andreja Avbersek Larry Baum Samuel Berkovic Jonathan Bradfield Russell J Buono Claudia B Catarino Patrick Cossette Peter De Jonghe Chantal Depondt Dennis Dlugos Thomas N Ferraro Jacqueline French Helle Hjalgrim Jennifer Jamnadas-Khoda Reetta Kälviäinen Wolfram S Kunz Holger Lerche Costin Leu Dick Lindhout Warren Lo Daniel Lowenstein Mark McCormack Rikke S Møller Anne Molloy Ping-Wing Ng Karen Oliver Michael Privitera Rodney Radtke Ann-Kathrin Ruppert Thomas Sander Steven Schachter Christoph Schankin Ingrid Scheffer Susanne Schoch Sanjay M Sisodiya Philip Smith Michael Sperling Pasquale Striano Rainer Surges G Neil Thomas Frank Visscher Christopher D Whelan Federico Zara Erin L Heinzen Anthony Marson Felicitas Becker Hans Stroink Fritz Zimprich Thomas Gasser Raphael Gibbs Peter Heutink Maria Martinez Huw R Morris Manu Sharma Mina Ryten Kin Y Mok Sara Pulit Steve Bevan Elizabeth Holliday John Attia Thomas Battey Giorgio Boncoraglio Vincent Thijs Wei-Min Chen Braxton Mitchell Peter Rothwell Pankaj Sharma Cathie Sudlow Astrid Vicente Hugh Markus Christina Kourkoulis Joana Pera Miriam Raffeld Scott Silliman Vesna Boraska Perica Laura M Thornton Laura M Huckins N William Rayner Cathryn M Lewis Monica Gratacos Filip Rybakowski Anna Keski-Rahkonen Anu Raevuori James I Hudson Ted Reichborn-Kjennerud Palmiero Monteleone Andreas Karwautz Katrin Mannik Jessica H Baker Julie K O'Toole Sara E Trace Oliver S P Davis Sietske G Helder Stefan Ehrlich Beate Herpertz-Dahlmann Unna N Danner Annemarie A van Elburg Maurizio Clementi Monica Forzan Elisa Docampo Jolanta Lissowska Joanna Hauser Alfonso Tortorella Mario Maj Fragiskos Gonidakis Konstantinos Tziouvas Hana Papezova Zeynep Yilmaz Gudrun Wagner Sarah Cohen-Woods Stefan Herms Antonio Julià Raquel Rabionet Danielle M Dick Samuli Ripatti Ole A Andreassen Thomas Espeseth Astri J Lundervold Vidar M Steen Dalila Pinto Stephen W Scherer Harald Aschauer Alexandra Schosser Lars Alfredsson Leonid Padyukov Katherine A Halmi James Mitchell Michael Strober Andrew W Bergen Walter Kaye Jin Peng Szatkiewicz Bru Cormand Josep Antoni Ramos-Quiroga Cristina Sánchez-Mora Marta Ribasés Miguel Casas Amaia Hervas Maria Jesús Arranz Jan Haavik Tetyana Zayats Stefan Johansson Nigel Williams Astrid Dempfle Aribert Rothenberger Jonna Kuntsi Robert D Oades Tobias Banaschewski Barbara Franke Jan K Buitelaar Alejandro Arias Vasquez Alysa E Doyle Andreas Reif Klaus-Peter Lesch Christine Freitag Olga Rivero Haukur Palmason Marcel Romanos Kate Langley Marcella Rietschel Stephanie H Witt Soeren Dalsgaard Anders D Børglum Irwin Waldman Beth Wilmot Nikolas Molly Claiton H D Bau Jennifer Crosbie Russell Schachar Sandra K Loo James J McGough Eugenio H Grevet Sarah E Medland Elise Robinson Lauren A Weiss Elena Bacchelli Anthony Bailey Vanessa Bal Agatino Battaglia Catalina Betancur Patrick Bolton Rita Cantor Patrícia Celestino-Soper Geraldine Dawson Silvia De Rubeis Frederico Duque Andrew Green Sabine M Klauck Marion Leboyer Pat Levitt Elena Maestrini Shrikant Mane Daniel Moreno- De-Luca Jeremy Parr Regina Regan Abraham Reichenberg Sven Sandin Jacob Vorstman Thomas Wassink Ellen Wijsman Edwin Cook Susan Santangelo Richard Delorme Bernadette Rogé Tiago Magalhaes Dan Arking Thomas G Schulze Robert C Thompson Jana Strohmaier Keith Matthews Ingrid Melle Derek Morris Douglas Blackwood Andrew McIntosh Sarah E Bergen Martin Schalling Stéphane Jamain Anna Maaser Sascha B Fischer Céline S Reinbold Janice M Fullerton José Guzman-Parra Fermin Mayoral Peter R Schofield Sven Cichon Thomas W Mühleisen Franziska Degenhardt Johannes Schumacher Michael Bauer Philip B Mitchell Elliot S Gershon John Rice James B Potash Peter P Zandi Nick Craddock I Nicol Ferrier Martin Alda Guy A Rouleau Gustavo Turecki Roel Ophoff Carlos Pato Adebayo Anjorin Eli Stahl Markus Leber Piotr M Czerski Cristiana Cruceanu Ian R Jones Danielle Posthuma Till F M Andlauer Andreas J Forstner Fabian Streit Bernhard T Baune Tracy Air Grant Sinnamon Naomi R Wray Donald J MacIntyre David Porteous Georg Homuth Margarita Rivera Jakob Grove Christel M Middeldorp Ian Hickie Michele Pergadia Divya Mehta Johannes H Smit Rick Jansen Eco de Geus Erin Dunn Qingqin S Li Matthias Nauck Robert A Schoevers Aartjan Tf Beekman James A Knowles Alexander Viktorin Paul Arnold Cathy L Barr Gabriel Bedoya-Berrio O Joseph Bienvenu Helena Brentani Christie Burton Beatriz Camarena Carolina Cappi Danielle Cath Maria Cavallini Daniele Cusi Sabrina Darrow Damiaan Denys Eske M Derks Andrea Dietrich Thomas Fernandez Martijn Figee Nelson Freimer Gloria Gerber Marco Grados Erica Greenberg Gregory L Hanna Andreas Hartmann Matthew E Hirschtritt Pieter J Hoekstra Alden Huang Chaim Huyser Cornelia Illmann Michael Jenike Samuel Kuperman Bennett Leventhal Christine Lochner Gholson J Lyon Fabio Macciardi Marcos Madruga-Garrido Irene A Malaty Athanasios Maras Lauren McGrath Eurípedes C Miguel Pablo Mir Gerald Nestadt Humberto Nicolini Michael S Okun Andrew Pakstis Peristera Paschou John Piacentini Christopher Pittenger Kerstin Plessen Vasily Ramensky Eliana M Ramos Victor Reus Margaret A Richter Mark A Riddle Mary M Robertson Veit Roessner Maria Rosário Jack F Samuels Paul Sandor Dan J Stein Fotis Tsetsos Filip Van Nieuwerburgh Sarah Weatherall Jens R Wendland Tomasz Wolanczyk Yulia Worbe Gwyneth Zai Fernando S Goes Nicole McLaughlin Paul S Nestadt Hans-Jorgen Grabe Christel Depienne Anuar Konkashbaev Nuria Lanzagorta Ana Valencia-Duarte Elvira Bramon Nancy Buccola Wiepke Cahn Murray Cairns Siow A Chong David Cohen Benedicto Crespo-Facorro James Crowley Michael Davidson Lynn DeLisi Timothy Dinan Gary Donohoe Elodie Drapeau Jubao Duan Lieuwe Haan David Hougaard Sena Karachanak-Yankova Andrey Khrunin Janis Klovins Vaidutis Kučinskas Jimmy Lee Chee Keong Svetlana Limborska Carmel Loughland Jouko Lönnqvist Brion Maher Manuel Mattheisen Colm McDonald Kieran C Murphy Igor Nenadic Jim van Os Christos Pantelis Michele Pato Tracey Petryshen Digby Quested Panos Roussos Alan R Sanders Ulrich Schall Sibylle G Schwab Kang Sim Hon-Cheong So Elisabeth Stögmann Mythily Subramaniam Draga Toncheva John Waddington James Walters Mark Weiser Wei Cheng Robert Cloninger David Curtis Pablo V Gejman Frans Henskens Morten Mattingsdal Sang-Yun Oh Rodney Scott Bradley Webb Gerome Breen Claire Churchhouse Cynthia M Bulik Mark Daly Martin Dichgans Stephen V Faraone Rita Guerreiro Peter Holmans Kenneth S Kendler Bobby Koeleman Carol A Mathews Alkes Price Jeremiah Scharf Pamela Sklar Julie Williams Nicholas W Wood Chris Cotsapas Aarno Palotie Jordan W Smoller Patrick Sullivan Jonathan Rosand Aiden Corvin Benjamin M Neale Jonathan M Schott Richard Anney Josephine Elia Maria Grigoroiu-Serbanescu Howard J Edenberg Robin Murray

Science 2018 06;360(6395)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/science.aap8757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097237PMC
June 2018

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:

View Article

Download full-text PDF

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

A decade of structural variants: description, history and methods to detect structural variation.

Brief Funct Genomics 2015 Sep 15;14(5):305-14. Epub 2015 Apr 15.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/bfgp/elv014DOI Listing
September 2015

Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes.

J Clin Pathol 2014 Dec 30;67(12):1099-103. Epub 2014 Sep 30.

Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS, Barcelona, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jclinpath-2014-202537DOI Listing
December 2014

Whole genome and exome sequencing of monozygotic twins discordant for Crohn's disease.

BMC Genomics 2014 Jul 5;15:564. Epub 2014 Jul 5.

Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Schittenhelmstrasse 12, 24105 Kiel, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2164-15-564DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102722PMC
July 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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

Deletion of the late cornified envelope genes, LCE3C and LCE3B, is associated with rheumatoid arthritis.

Arthritis Rheum 2010 May;62(5):1246-51

Center for Genomic Regulation-Pompeu Fabra University and Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://www.jiaci.org/issues/vol21issue6/6.pdf
Web Search
http://doi.wiley.com/10.1002/art.27381
Publisher Site
http://dx.doi.org/10.1002/art.27381DOI Listing
May 2010

Identification of copy number variants defining genomic differences among major human groups.

PLoS One 2009 Sep 30;4(9):e7230. Epub 2009 Sep 30.

Genetic Causes of Disease Group, Genes and Disease Program, Center for Genomic Regulation (CRG-UPF) and CIBERESP, Barcelona, Catalonia, Spain.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0007230PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2747275PMC
September 2009

Are MYO1C and MYO1F associated with hearing loss?

Biochim Biophys Acta 2009 Jan 5;1792(1):27-32. Epub 2008 Nov 5.

Unit of Medical Genetics, Department of Reproductive Science and Development, Institute for Maternal and Child Health - IRCCS "Burlo Garofolo" - Trieste, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2008.10.017DOI Listing
January 2009

Human genetics branches out in Barcelona.

Genome Biol 2008 13;9(8):318. Epub 2008 Aug 13.

Genes and Disease Program, Centre de regulació Genòmica (CRG-UPF), Dr. Aiguader 88, 08003-Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/gb-2008-9-8-318DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2575509PMC
December 2008

Lack of association between autism and SLC25A12.

Am J Psychiatry 2006 May;163(5):929-31

Center for Human Genetics, Department of Medicine, Duke University Medical Center, 595 LaSalle St., Durham, NC 27710, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1176/ajp.2006.163.5.929DOI Listing
May 2006

Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment.

Biochem Biophys Res Commun 2006 Mar 24;341(4):950-7. Epub 2006 Jan 24.

Genes and Disease Program, Centre for Genomic Regulation (CRG), Universitat Pompeu Fabra (UPF), Barcelona Biomedical Research Park, Barcelona, Catalonia, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrc.2006.01.049DOI Listing
March 2006

Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes.

Neurosci Lett 2004 Dec;372(3):209-14

Department of Medicine, Center for Human Genetics, 595 LaSalle St., Box 3445, Duke University Medical Center, Durham, NC 27710, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neulet.2004.09.037DOI Listing
December 2004

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.

Hum Genet 2002 Aug 22;111(2):190-7. Epub 2002 Jun 22.

Institut für Genetik, Universität Bonn, Römerstrasse 164, 53117 Bonn, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-002-0750-2DOI Listing
August 2002

Connexin mutations in hearing loss, dermatological and neurological disorders.

Trends Mol Med 2002 May;8(5):205-12

Deafness Research Group, Genes and Disease Research Program, Center of Genomic Regulation, Barcelona, Spain.

View Article

Download full-text PDF

Source
May 2002