Lluis Armengol

Lluis Armengol

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Lluis Armengol

Lluis Armengol

Publications by authors named "Lluis Armengol"

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48Publications

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Further delineation of the phenotype caused by loss of function mutations in PRMT7.

Eur J Med Genet 2019 Mar 10;62(3):182-185. Epub 2018 Jul 10.

Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d´Hebron, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.07.007DOI Listing
March 2019

High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders.

Behav Genet 2018 07 7;48(4):323-336. Epub 2018 Jun 7.

Genetics lab, UDIAT-centre diagnostic. Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí I3PT. Universitat Autònoma de Barcelona, C/Parc Tauli,1, 08208, Sabadell, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10519-018-9902-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028865PMC
July 2018

Recommendations for the use of microarrays in prenatal diagnosis.

Med Clin (Barc) 2017 Apr 21;148(7):328.e1-328.e8. Epub 2017 Feb 21.

Grupo de Citogenética Molecular, Centro Nacional de Investigaciones Oncológicas, Madrid, España.

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http://dx.doi.org/10.1016/j.medcli.2016.12.028DOI Listing
April 2017

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

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

MLPAstats: an R GUI package for the integrated analysis of copy number alterations using MLPA data.

BMC Bioinformatics 2011 May 11;12:147. Epub 2011 May 11.

Center for Research in Environmental Epidemiology, Doctor Aiguader 88, Barcelona 08003, Spain.

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http://dx.doi.org/10.1186/1471-2105-12-147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3118163PMC
May 2011

Description of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32).

Am J Med Genet A 2010 Sep;152A(9):2308-12

Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.a.33550DOI Listing
September 2010

Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism.

PLoS One 2009 Dec 14;4(12):e8269. Epub 2009 Dec 14.

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0008269PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2790694PMC
December 2009

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1.

BMC Med Genet 2009 Dec 23;10:144. Epub 2009 Dec 23.

Genes and Disease Program, CIBER en Epidemiología y Salud Pública (CIBERESP), Center for Genomic Regulation (CRG), Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1186/1471-2350-10-144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2805625PMC
December 2009

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.

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

Origin of primate orphan genes: a comparative genomics approach.

Mol Biol Evol 2009 Mar 8;26(3):603-12. Epub 2008 Dec 8.

Evolutionary Genomics Group, Biomedical Informatics Research Programme, Fundació Institut Municipal d'Investigació Mèdica, Barcelona, Spain.

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http://dx.doi.org/10.1093/molbev/msn281DOI Listing
March 2009

ProSeeK: a web server for MLPA probe design.

BMC Genomics 2008 Nov 28;9:573. Epub 2008 Nov 28.

Genes and Disease Program, Center for Genomic Regulation (CRG), Doctor Aiguader, Catalonia, Spain.

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http://dx.doi.org/10.1186/1471-2164-9-573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2625369PMC
November 2008

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds.

Gene 2008 Sep 13;420(2):113-7. Epub 2008 May 13.

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

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http://dx.doi.org/10.1016/j.gene.2008.05.003DOI Listing
September 2008

On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees.

Genome Biol 2007 ;8(10):R230

Unitat de Biologia Evolutiva Departament de Ciències Experimentals i de la Salut, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1186/gb-2007-8-10-r230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2246304PMC
May 2008

Maximizing association statistics over genetic models.

Genet Epidemiol 2008 Apr;32(3):246-54

Center for Research in Environmental Epidemiology (CREAL), Barcelona, Spain.

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http://dx.doi.org/10.1002/gepi.20299DOI Listing
April 2008

Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia.

Behav Brain Funct 2008 Feb 19;4:10. Epub 2008 Feb 19.

Genes and Disease Program, Barcelona Genotyping Node, CeGen-CRG, CIBER en Epidemiología y Salud Pública (CIBERESP), Center for Genomic Regulation (CRG-UPF), Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1186/1744-9081-4-10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2278148PMC
February 2008

Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events.

Hum Mol Genet 2007 Nov 7;16(21):2572-82. Epub 2007 Aug 7.

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

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http://dx.doi.org/10.1093/hmg/ddm209DOI Listing
November 2007

Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies.

PLoS Genet 2007 Oct;3(10):1787-99

Center for Genomic Regulation (CRG), National Genotyping Center (CeGen), CIBERESP, Pompeu Fabra University (UPF), Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1371/journal.pgen.0030190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2039766PMC
October 2007

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.

Authors:
Ewan Birney John A Stamatoyannopoulos Anindya Dutta Roderic Guigó Thomas R Gingeras Elliott H Margulies Zhiping Weng Michael Snyder Emmanouil T Dermitzakis Robert E Thurman Michael S Kuehn Christopher M Taylor Shane Neph Christoph M Koch Saurabh Asthana Ankit Malhotra Ivan Adzhubei Jason A Greenbaum Robert M Andrews Paul Flicek Patrick J Boyle Hua Cao Nigel P Carter Gayle K Clelland Sean Davis Nathan Day Pawandeep Dhami Shane C Dillon Michael O Dorschner Heike Fiegler Paul G Giresi Jeff Goldy Michael Hawrylycz Andrew Haydock Richard Humbert Keith D James Brett E Johnson Ericka M Johnson Tristan T Frum Elizabeth R Rosenzweig Neerja Karnani Kirsten Lee Gregory C Lefebvre Patrick A Navas Fidencio Neri Stephen C J Parker Peter J Sabo Richard Sandstrom Anthony Shafer David Vetrie Molly Weaver Sarah Wilcox Man Yu Francis S Collins Job Dekker Jason D Lieb Thomas D Tullius Gregory E Crawford Shamil Sunyaev William S Noble Ian Dunham France Denoeud Alexandre Reymond Philipp Kapranov Joel Rozowsky Deyou Zheng Robert Castelo Adam Frankish Jennifer Harrow Srinka Ghosh Albin Sandelin Ivo L Hofacker Robert Baertsch Damian Keefe Sujit Dike Jill Cheng Heather A Hirsch Edward A Sekinger Julien Lagarde Josep F Abril Atif Shahab Christoph Flamm Claudia Fried Jörg Hackermüller Jana Hertel Manja Lindemeyer Kristin Missal Andrea Tanzer Stefan Washietl Jan Korbel Olof Emanuelsson Jakob S Pedersen Nancy Holroyd Ruth Taylor David Swarbreck Nicholas Matthews Mark C Dickson Daryl J Thomas Matthew T Weirauch James Gilbert Jorg Drenkow Ian Bell XiaoDong Zhao K G Srinivasan Wing-Kin Sung Hong Sain Ooi Kuo Ping Chiu Sylvain Foissac Tyler Alioto Michael Brent Lior Pachter Michael L Tress Alfonso Valencia Siew Woh Choo Chiou Yu Choo Catherine Ucla Caroline Manzano Carine Wyss Evelyn Cheung Taane G Clark James B Brown Madhavan Ganesh Sandeep Patel Hari Tammana Jacqueline Chrast Charlotte N Henrichsen Chikatoshi Kai Jun Kawai Ugrappa Nagalakshmi Jiaqian Wu Zheng Lian Jin Lian Peter Newburger Xueqing Zhang Peter Bickel John S Mattick Piero Carninci Yoshihide Hayashizaki Sherman Weissman Tim Hubbard Richard M Myers Jane Rogers Peter F Stadler Todd M Lowe Chia-Lin Wei Yijun Ruan Kevin Struhl Mark Gerstein Stylianos E Antonarakis Yutao Fu Eric D Green Ulaş Karaöz Adam Siepel James Taylor Laura A Liefer Kris A Wetterstrand Peter J Good Elise A Feingold Mark S Guyer Gregory M Cooper George Asimenos Colin N Dewey Minmei Hou Sergey Nikolaev Juan I Montoya-Burgos Ari Löytynoja Simon Whelan Fabio Pardi Tim Massingham Haiyan Huang Nancy R Zhang Ian Holmes James C Mullikin Abel Ureta-Vidal Benedict Paten Michael Seringhaus Deanna Church Kate Rosenbloom W James Kent Eric A Stone Serafim Batzoglou Nick Goldman Ross C Hardison David Haussler Webb Miller Arend Sidow Nathan D Trinklein Zhengdong D Zhang Leah Barrera Rhona Stuart David C King Adam Ameur Stefan Enroth Mark C Bieda Jonghwan Kim Akshay A Bhinge Nan Jiang Jun Liu Fei Yao Vinsensius B Vega Charlie W H Lee Patrick Ng Atif Shahab Annie Yang Zarmik Moqtaderi Zhou Zhu Xiaoqin Xu Sharon Squazzo Matthew J Oberley David Inman Michael A Singer Todd A Richmond Kyle J Munn Alvaro Rada-Iglesias Ola Wallerman Jan Komorowski Joanna C Fowler Phillippe Couttet Alexander W Bruce Oliver M Dovey Peter D Ellis Cordelia F Langford David A Nix Ghia Euskirchen Stephen Hartman Alexander E Urban Peter Kraus Sara Van Calcar Nate Heintzman Tae Hoon Kim Kun Wang Chunxu Qu Gary Hon Rosa Luna Christopher K Glass M Geoff Rosenfeld Shelley Force Aldred Sara J Cooper Anason Halees Jane M Lin Hennady P Shulha Xiaoling Zhang Mousheng Xu Jaafar N S Haidar Yong Yu Yijun Ruan Vishwanath R Iyer Roland D Green Claes Wadelius Peggy J Farnham Bing Ren Rachel A Harte Angie S Hinrichs Heather Trumbower Hiram Clawson Jennifer Hillman-Jackson Ann S Zweig Kayla Smith Archana Thakkapallayil Galt Barber Robert M Kuhn Donna Karolchik Lluis Armengol Christine P Bird Paul I W de Bakker Andrew D Kern Nuria Lopez-Bigas Joel D Martin Barbara E Stranger Abigail Woodroffe Eugene Davydov Antigone Dimas Eduardo Eyras Ingileif B Hallgrímsdóttir Julian Huppert Michael C Zody Gonçalo R Abecasis Xavier Estivill Gerard G Bouffard Xiaobin Guan Nancy F Hansen Jacquelyn R Idol Valerie V B Maduro Baishali Maskeri Jennifer C McDowell Morgan Park Pamela J Thomas Alice C Young Robert W Blakesley Donna M Muzny Erica Sodergren David A Wheeler Kim C Worley Huaiyang Jiang George M Weinstock Richard A Gibbs Tina Graves Robert Fulton Elaine R Mardis Richard K Wilson Michele Clamp James Cuff Sante Gnerre David B Jaffe Jean L Chang Kerstin Lindblad-Toh Eric S Lander Maxim Koriabine Mikhail Nefedov Kazutoyo Osoegawa Yuko Yoshinaga Baoli Zhu Pieter J de Jong
June 2007

SNPassoc: an R package to perform whole genome association studies.

Bioinformatics 2007 Mar 31;23(5):644-5. Epub 2007 Jan 31.

Genes and Disease Program, Centre for Genomic Regulation, IDIBELL, Catalan Institute of Oncology, Barcelona, Spain.

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
Publisher Site
http://dx.doi.org/10.1093/bioinformatics/btm025DOI Listing
March 2007

Genome assembly comparison identifies structural variants in the human genome.

Nat Genet 2006 Dec 22;38(12):1413-8. Epub 2006 Nov 22.

Program in Genetics and Genomic Biology, The Hospital for Sick Children and Department of Molecular and Medical Genetics, University of Toronto and The Centre for Applied Genomics, MaRS Centre, Toronto, Ontario, M5G 1L7, Canada.

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http://www.nature.com/articles/ng1921
Publisher Site
http://dx.doi.org/10.1038/ng1921DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674632PMC
December 2006

Murine segmental duplications are hot spots for chromosome and gene evolution.

Genomics 2005 Dec 26;86(6):692-700. Epub 2005 Oct 26.

Genes and Disease Program, Center for Genomic Regulation, Passeig Marítim 37-49, 08003 Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1016/j.ygeno.2005.08.008DOI Listing
December 2005

Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements.

Hum Mol Genet 2003 Sep 8;12(17):2201-8. Epub 2003 Jul 8.

Program in Genes and Disease, Center for Genomic Regulation (CRG), Barcelona Biomedical Research Park, Passeig Marítim 37-49, 08003 Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1093/hmg/ddg223DOI Listing
September 2003

Human chromosome 7: DNA sequence and biology.

Science 2003 May 10;300(5620):767-72. Epub 2003 Apr 10.

Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.

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http://dx.doi.org/10.1126/science.1083423DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2882961PMC
May 2003

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons.

Eur J Hum Genet 2002 Jan;10(1):26-35

Centre de Genètica Mèdica i Molecular - IRO, Hospital Duran i Reynals, Gran Vía km 2.7, 08907 L'Hospitalet de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1038/sj.ejhg.5200760DOI Listing
January 2002