Angel Carracedo

Angel Carracedo

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Angel Carracedo

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Forensic Science International: Genetics reviewer Hall of Fame 2018.

Forensic Sci Int Genet 2019 May 17;40:23. Epub 2019 Jan 17.

Publisher, Elsevier, Oxford, United Kingdom.

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http://dx.doi.org/10.1016/j.fsigen.2019.01.009DOI Listing
May 2019

Spatially explicit analysis reveals complex human genetic gradients in the Iberian Peninsula.

Sci Rep 2019 May 24;9(1):7825. Epub 2019 May 24.

Institute of Evolutionary Biology (CSIC-UPF). Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain.

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http://www.nature.com/articles/s41598-019-44121-6
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http://dx.doi.org/10.1038/s41598-019-44121-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6534591PMC
May 2019

Genome-wide association study of germline variants and breast cancer-specific mortality.

Authors:
Maria Escala-Garcia Qi Guo Thilo Dörk Sander Canisius Renske Keeman Joe Dennis Jonathan Beesley Julie Lecarpentier Manjeet K Bolla Qin Wang Jean Abraham Irene L Andrulis Hoda Anton-Culver Volker Arndt Paul L Auer Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Leslie Bernstein Carl Blomqvist Bram Boeckx Stig E Bojesen Bernardo Bonanni Anne-Lise Børresen-Dale Hiltrud Brauch Hermann Brenner Adam Brentnall Louise Brinton Per Broberg Ian W Brock Sara Y Brucker Barbara Burwinkel Carlos Caldas Trinidad Caldés Daniele Campa Federico Canzian Angel Carracedo Brian D Carter Jose E Castelao Jenny Chang-Claude Stephen J Chanock Georgia Chenevix-Trench Ting-Yuan David Cheng Suet-Feung Chin Christine L Clarke Emilie Cordina-Duverger Fergus J Couch David G Cox Angela Cox Simon S Cross Kamila Czene Mary B Daly Peter Devilee Janet A Dunn Alison M Dunning Lorraine Durcan Miriam Dwek Helena M Earl Arif B Ekici A Heather Eliassen Carolina Ellberg Christoph Engel Mikael Eriksson D Gareth Evans Jonine Figueroa Dieter Flesch-Janys Henrik Flyger Marike Gabrielson Manuela Gago-Dominguez Eva Galle Susan M Gapstur Montserrat García-Closas José A García-Sáenz Mia M Gaudet Angela George Vassilios Georgoulias Graham G Giles Gord Glendon David E Goldgar Anna González-Neira Grethe I Grenaker Alnæs Mervi Grip Pascal Guénel Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Per Hall Ute Hamann Susan Hankinson Elaine F Harkness Patricia A Harrington Steven N Hart Jaana M Hartikainen Alexander Hein Peter Hillemanns Louise Hiller Bernd Holleczek Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Anthony Howell Guanmengqian Huang Keith Humphreys David J Hunter Wolfgang Janni Esther M John Michael E Jones Arja Jukkola-Vuorinen Audrey Jung Rudolf Kaaks Maria Kabisch Katarzyna Kaczmarek Michael J Kerin Sofia Khan Elza Khusnutdinova Johanna I Kiiski Cari M Kitahara Julia A Knight Yon-Dschun Ko Linetta B Koppert Veli-Matti Kosma Peter Kraft Vessela N Kristensen Ute Krüger Tabea Kühl Diether Lambrechts Loic Le Marchand Eunjung Lee Flavio Lejbkowicz Lian Li Annika Lindblom Sara Lindström Martha Linet Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jan Lubiński Michael P Lux Robert J MacInnis Melanie Maierthaler Tom Maishman Enes Makalic Arto Mannermaa Mehdi Manoochehri Siranoush Manoukian Sara Margolin Maria Elena Martinez Dimitrios Mavroudis Catriona McLean Alfons Meindl Pooja Middha Nicola Miller Roger L Milne Fernando Moreno Anna Marie Mulligan Claire Mulot Rami Nassir Susan L Neuhausen William T Newman Sune F Nielsen Børge G Nordestgaard Aaron Norman Håkan Olsson Nick Orr V Shane Pankratz Tjoung-Won Park-Simon Jose I A Perez Clara Pérez-Barrios Paolo Peterlongo Christos Petridis Mila Pinchev Karoliona Prajzendanc Ross Prentice Nadege Presneau Darya Prokofieva Katri Pylkäs Brigitte Rack Paolo Radice Dhanya Ramachandran Gadi Rennert Hedy S Rennert Valerie Rhenius Atocha Romero Rebecca Roylance Emmanouil Saloustros Elinor J Sawyer Daniel F Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Fredrick Schumacher Lukas Schwentner Rodney J Scott Christopher Scott Caroline Seynaeve Mitul Shah Jacques Simard Ann Smeets Christof Sohn Melissa C Southey Anthony J Swerdlow Aline Talhouk Rulla M Tamimi William J Tapper Manuel R Teixeira Maria Tengström Mary Beth Terry Kathrin Thöne Rob A E M Tollenaar Ian Tomlinson Diana Torres Thérèse Truong Constance Turman Clare Turnbull Hans-Ulrich Ulmer Michael Untch Celine Vachon Christi J van Asperen Ans M W van den Ouweland Elke M van Veen Camilla Wendt Alice S Whittemore Walter Willett Robert Winqvist Alicja Wolk Xiaohong R Yang Yan Zhang Douglas F Easton Peter A Fasching Heli Nevanlinna Diana M Eccles Paul D P Pharoah Marjanka K Schmidt

Br J Cancer 2019 Mar 21;120(6):647-657. Epub 2019 Feb 21.

The Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Division of Molecular Pathology, Amsterdam, The Netherlands.

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http://www.nature.com/articles/s41416-019-0393-x
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http://dx.doi.org/10.1038/s41416-019-0393-xDOI Listing
March 2019

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Authors:
Brian W Kunkle Benjamin Grenier-Boley Rebecca Sims Joshua C Bis Vincent Damotte Adam C Naj Anne Boland Maria Vronskaya Sven J van der Lee Alexandre Amlie-Wolf Céline Bellenguez Aura Frizatti Vincent Chouraki Eden R Martin Kristel Sleegers Nandini Badarinarayan Johanna Jakobsdottir Kara L Hamilton-Nelson Sonia Moreno-Grau Robert Olaso Rachel Raybould Yuning Chen Amanda B Kuzma Mikko Hiltunen Taniesha Morgan Shahzad Ahmad Badri N Vardarajan Jacques Epelbaum Per Hoffmann Merce Boada Gary W Beecham Jean-Guillaume Garnier Denise Harold Annette L Fitzpatrick Otto Valladares Marie-Laure Moutet Amy Gerrish Albert V Smith Liming Qu Delphine Bacq Nicola Denning Xueqiu Jian Yi Zhao Maria Del Zompo Nick C Fox Seung-Hoan Choi Ignacio Mateo Joseph T Hughes Hieab H Adams John Malamon Florentino Sanchez-Garcia Yogen Patel Jennifer A Brody Beth A Dombroski Maria Candida Deniz Naranjo Makrina Daniilidou Gudny Eiriksdottir Shubhabrata Mukherjee David Wallon James Uphill Thor Aspelund Laura B Cantwell Fabienne Garzia Daniela Galimberti Edith Hofer Mariusz Butkiewicz Bertrand Fin Elio Scarpini Chloe Sarnowski Will S Bush Stéphane Meslage Johannes Kornhuber Charles C White Yuenjoo Song Robert C Barber Sebastiaan Engelborghs Sabrina Sordon Dina Voijnovic Perrie M Adams Rik Vandenberghe Manuel Mayhaus L Adrienne Cupples Marilyn S Albert Peter P De Deyn Wei Gu Jayanadra J Himali Duane Beekly Alessio Squassina Annette M Hartmann Adelina Orellana Deborah Blacker Eloy Rodriguez-Rodriguez Simon Lovestone Melissa E Garcia Rachelle S Doody Carmen Munoz-Fernadez Rebecca Sussams Honghuang Lin Thomas J Fairchild Yolanda A Benito Clive Holmes Hata Karamujić-Čomić Matthew P Frosch Hakan Thonberg Wolfgang Maier Gena Roschupkin Bernardino Ghetti Vilmantas Giedraitis Amit Kawalia Shuo Li Ryan M Huebinger Lena Kilander Susanne Moebus Isabel Hernández M Ilyas Kamboh RoseMarie Brundin James Turton Qiong Yang Mindy J Katz Letizia Concari Jenny Lord Alexa S Beiser C Dirk Keene Seppo Helisalmi Iwona Kloszewska Walter A Kukull Anne Maria Koivisto Aoibhinn Lynch Lluís Tarraga Eric B Larson Annakaisa Haapasalo Brian Lawlor Thomas H Mosley Richard B Lipton Vincenzo Solfrizzi Michael Gill W T Longstreth Thomas J Montine Vincenza Frisardi Monica Diez-Fairen Fernando Rivadeneira Ronald C Petersen Vincent Deramecourt Ignacio Alvarez Francesca Salani Antonio Ciaramella Eric Boerwinkle Eric M Reiman Nathalie Fievet Jerome I Rotter Joan S Reisch Olivier Hanon Chiara Cupidi A G Andre Uitterlinden Donald R Royall Carole Dufouil Raffaele Giovanni Maletta Itziar de Rojas Mary Sano Alexis Brice Roberta Cecchetti Peter St George-Hyslop Karen Ritchie Magda Tsolaki Debby W Tsuang Bruno Dubois David Craig Chuang-Kuo Wu Hilkka Soininen Despoina Avramidou Roger L Albin Laura Fratiglioni Antonia Germanou Liana G Apostolova Lina Keller Maria Koutroumani Steven E Arnold Francesco Panza Olymbia Gkatzima Sanjay Asthana Didier Hannequin Patrice Whitehead Craig S Atwood Paolo Caffarra Harald Hampel Inés Quintela Ángel Carracedo Lars Lannfelt David C Rubinsztein Lisa L Barnes Florence Pasquier Lutz Frölich Sandra Barral Bernadette McGuinness Thomas G Beach Janet A Johnston James T Becker Peter Passmore Eileen H Bigio Jonathan M Schott Thomas D Bird Jason D Warren Bradley F Boeve Michelle K Lupton James D Bowen Petra Proitsi Adam Boxer John F Powell James R Burke John S K Kauwe Jeffrey M Burns Michelangelo Mancuso Joseph D Buxbaum Ubaldo Bonuccelli Nigel J Cairns Andrew McQuillin Chuanhai Cao Gill Livingston Chris S Carlson Nicholas J Bass Cynthia M Carlsson John Hardy Regina M Carney Jose Bras Minerva M Carrasquillo Rita Guerreiro Mariet Allen Helena C Chui Elizabeth Fisher Carlo Masullo Elizabeth A Crocco Charles DeCarli Gina Bisceglio Malcolm Dick Li Ma Ranjan Duara Neill R Graff-Radford Denis A Evans Angela Hodges Kelley M Faber Martin Scherer Kenneth B Fallon Matthias Riemenschneider David W Fardo Reinhard Heun Martin R Farlow Heike Kölsch Steven Ferris Markus Leber Tatiana M Foroud Isabella Heuser Douglas R Galasko Ina Giegling Marla Gearing Michael Hüll Daniel H Geschwind John R Gilbert John Morris Robert C Green Kevin Mayo John H Growdon Thomas Feulner Ronald L Hamilton Lindy E Harrell Dmitriy Drichel Lawrence S Honig Thomas D Cushion Matthew J Huentelman Paul Hollingworth Christine M Hulette Bradley T Hyman Rachel Marshall Gail P Jarvik Alun Meggy Erin Abner Georgina E Menzies Lee-Way Jin Ganna Leonenko Luis M Real Gyungah R Jun Clinton T Baldwin Detelina Grozeva Anna Karydas Giancarlo Russo Jeffrey A Kaye Ronald Kim Frank Jessen Neil W Kowall Bruno Vellas Joel H Kramer Emma Vardy Frank M LaFerla Karl-Heinz Jöckel James J Lah Martin Dichgans James B Leverenz David Mann Allan I Levey Stuart Pickering-Brown Andrew P Lieberman Norman Klopp Kathryn L Lunetta H-Erich Wichmann Constantine G Lyketsos Kevin Morgan Daniel C Marson Kristelle Brown Frank Martiniuk Christopher Medway Deborah C Mash Markus M Nöthen Eliezer Masliah Nigel M Hooper Wayne C McCormick Antonio Daniele Susan M McCurry Anthony Bayer Andrew N McDavid John Gallacher Ann C McKee Hendrik van den Bussche Marsel Mesulam Carol Brayne Bruce L Miller Steffi Riedel-Heller Carol A Miller Joshua W Miller Ammar Al-Chalabi John C Morris Christopher E Shaw Amanda J Myers Jens Wiltfang Sid O'Bryant John M Olichney Victoria Alvarez Joseph E Parisi Andrew B Singleton Henry L Paulson John Collinge William R Perry Simon Mead Elaine Peskind David H Cribbs Martin Rossor Aimee Pierce Natalie S Ryan Wayne W Poon Benedetta Nacmias Huntington Potter Sandro Sorbi Joseph F Quinn Eleonora Sacchinelli Ashok Raj Gianfranco Spalletta Murray Raskind Carlo Caltagirone Paola Bossù Maria Donata Orfei Barry Reisberg Robert Clarke Christiane Reitz A David Smith John M Ringman Donald Warden Erik D Roberson Gordon Wilcock Ekaterina Rogaeva Amalia Cecilia Bruni Howard J Rosen Maura Gallo Roger N Rosenberg Yoav Ben-Shlomo Mark A Sager Patrizia Mecocci Andrew J Saykin Pau Pastor Michael L Cuccaro Jeffery M Vance Julie A Schneider Lori S Schneider Susan Slifer William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Mitchell Tang Rudolph E Tanzi John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Kirk C Wilhelmsen Jennifer Williamson Thomas S Wingo Randall L Woltjer Clinton B Wright Chang-En Yu Lei Yu Yasaman Saba Alberto Pilotto Maria J Bullido Oliver Peters Paul K Crane David Bennett Paola Bosco Eliecer Coto Virginia Boccardi Phil L De Jager Alberto Lleo Nick Warner Oscar L Lopez Martin Ingelsson Panagiotis Deloukas Carlos Cruchaga Caroline Graff Rhian Gwilliam Myriam Fornage Alison M Goate Pascual Sanchez-Juan Patrick G Kehoe Najaf Amin Nilifur Ertekin-Taner Claudine Berr Stéphanie Debette Seth Love Lenore J Launer Steven G Younkin Jean-Francois Dartigues Chris Corcoran M Arfan Ikram Dennis W Dickson Gael Nicolas Dominique Campion JoAnn Tschanz Helena Schmidt Hakon Hakonarson Jordi Clarimon Ron Munger Reinhold Schmidt Lindsay A Farrer Christine Van Broeckhoven Michael C O'Donovan Anita L DeStefano Lesley Jones Jonathan L Haines Jean-Francois Deleuze Michael J Owen Vilmundur Gudnason Richard Mayeux Valentina Escott-Price Bruce M Psaty Alfredo Ramirez Li-San Wang Agustin Ruiz Cornelia M van Duijn Peter A Holmans Sudha Seshadri Julie Williams Phillippe Amouyel Gerard D Schellenberg Jean-Charles Lambert Margaret A Pericak-Vance

Nat Genet 2019 03 28;51(3):414-430. Epub 2019 Feb 28.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

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http://dx.doi.org/10.1038/s41588-019-0358-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6463297PMC
March 2019

Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.

Am J Med Genet A 2019 Feb 20;179(2):290-294. Epub 2018 Dec 20.

Grupo de Medicina Xenómica, Universidad de Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain.

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http://dx.doi.org/10.1002/ajmg.a.60689DOI Listing
February 2019

Whole exome sequencing approach to analysis of the origin of cancer stem cells in patients with head and neck squamous cell carcinoma.

J Oral Pathol Med 2018 Nov 16;47(10):938-944. Epub 2018 Aug 16.

Fundacion Publica Galega de Medicina Xenomica-SERGAS, Santiago de Compostela, Spain.

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http://doi.wiley.com/10.1111/jop.12771
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http://dx.doi.org/10.1111/jop.12771DOI Listing
November 2018

Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes.

Arch Endocrinol Metab 2018 Oct;62(5):560-565

Unidad de Endocrinología Pediátrica y Crecimiento, Pediatría, Hospital Clínico Universitario y Universidad de Santiago de Compostela, IDIS, Santiago de Compostela, Spain.

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http://dx.doi.org/10.20945/2359-3997000000077DOI Listing
October 2018

Identification of putative second genetic hits in schizophrenia carriers of high-risk copy number variants and resequencing in additional samples.

Eur Arch Psychiatry Clin Neurosci 2018 Sep 18;268(6):585-592. Epub 2017 Apr 18.

Instituto de Investigación Sanitaria (IDIS) de Santiago de Compostela, Complexo Hospitalario Universitario de Santiago de Compostela (CHUS), Servizo Galego de Saúde (SERGAS), Santiago de Compostela, Spain.

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http://dx.doi.org/10.1007/s00406-017-0799-5DOI Listing
September 2018

Native American gene continuity to the modern admixed population from the Colombian Andes: Implication for biomedical, population and forensic studies.

Forensic Sci Int Genet 2018 09 7;36:e1-e7. Epub 2018 Jun 7.

Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultad de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Colombia; Fundación de Genética y Genómica, Medellin, Colombia; Corporación Universitaria Remington, Medellin, Colombia; Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, GBSF, 451 Health Science Drive Davis, CA, 95616-8816, USA. Electronic address:

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http://dx.doi.org/10.1016/j.fsigen.2018.06.006DOI Listing
September 2018

Ancestry analysis in rural Brazilian populations of African descent.

Forensic Sci Int Genet 2018 09 28;36:160-166. Epub 2018 Jun 28.

Human Genetics Laboratory, Institute of Biological Sciences, University of Brasília, Brazil; Animal Biology Graduate Program, Institute of Biological Sciences, University of Brasília, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.fsigen.2018.06.018DOI Listing
September 2018

FKBP5 polymorphisms and hypothalamic-pituitary-adrenal axis negative feedback in major depression and obsessive-compulsive disorder.

J Psychiatr Res 2018 09 9;104:227-234. Epub 2018 Aug 9.

Department of Psychiatry, Bellvitge University Hospital, Bellvitge Biomedical Research Institute (IDIBELL), Neurosciences Group - Psychiatry and Mental Health, Barcelona, Spain; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Carlos III Health Institute, Spain; Department of Clinical Sciences, School of Medicine, Universitat de Barcelona, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jpsychires.2018.08.003DOI Listing
September 2018

Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis.

Front Genet 2018 21;9:406. Epub 2018 Sep 21.

Grupo de Medicina Xenómica, Fundación Instituto de Investigación Sanitaria de Santiago de Compostela, Center for Research in Molecular Medicine and Chronic Diseases, Universidade de Santiago de Compostela, Santiago, Spain.

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http://dx.doi.org/10.3389/fgene.2018.00406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160549PMC
September 2018

Assessment of genotyping tools applied in genetic susceptibility studies of periodontal disease: A systematic review.

Arch Oral Biol 2018 Aug 30;92:38-50. Epub 2018 Apr 30.

Grupo de Medicina Xenómica, Centro Nacional de Genotipado - Plataforma de Recursos Biomoleculares y Bioinformáticos - Instituto de Salud Carlos III (CeGen-PRB2-ISCIII), Universidad de Santiago de Compostela (USC), Santiago de Compostela, A Coruña, Spain; Grupo de Medicina Xenómica, CIBERER, Fundación Pública Galega de Medicina Xenómica - SERGAS Santiago de Compostela, A Coruña, Spain.

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http://dx.doi.org/10.1016/j.archoralbio.2018.04.012DOI Listing
August 2018

A Novel Calsequestrin 2 Deletion Causing Catecholaminergic Polymorphic Ventricular Tachycardia and Sudden Cardiac Death.

Rev Esp Cardiol (Engl Ed) 2018 Aug 20. Epub 2018 Aug 20.

Xenética Cardiovascular, Instituto de Investigación Sanitaria de Santiago de Compostela, Complexo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, A Coruña, Spain; Servicio de Cardiología, Hospital Clínico Universitario de Santiago de Compostela-SERGAS, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Santiago de Compostela, A Coruña, Spain; Grupo de Medicina Xenómica, Instituto de Investigación Sanitaria de Santiago de Compostela -Universidade de Santiago de Compostela- Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, A Coruña, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18855857183031
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http://dx.doi.org/10.1016/j.rec.2018.07.005DOI Listing
August 2018

tagFinder: A Novel Tag Analysis Methodology That Enables Detection of Molecules from DNA-Encoded Chemical Libraries.

SLAS Discov 2018 Jun 23;23(5):397-404. Epub 2018 Jan 23.

2 BioFarma, Universidad de Santiago de Compostela (USC), Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), A Coruña, Spain.

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http://dx.doi.org/10.1177/2472555217753840DOI Listing
June 2018

Inference of Ancestry in Forensic Analysis I: Autosomal Ancestry-Informative Marker Sets.

Methods Mol Biol 2016 ;1420:233-53

Forensic Genetics Unit, Luis Concheiro Institute of Forensic Sciences, Genomic Medicine Group, University of Santiago de Compostela, Galicia, 15782, Spain.

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http://dx.doi.org/10.1007/978-1-4939-3597-0_18DOI Listing
January 2018

Inference of Ancestry in Forensic Analysis II: Analysis of Genetic Data.

Methods Mol Biol 2016 ;1420:255-85

Forensic Genetics Unit, Luis Concheiro Institute of Forensic Sciences, Genomic Medicine Group, University of Santiago de Compostela, Galicia, 15782, Spain.

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http://dx.doi.org/10.1007/978-1-4939-3597-0_19DOI Listing
January 2018

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

Authors:
Roger L Milne Karoline B Kuchenbaecker Kyriaki Michailidou Jonathan Beesley Siddhartha Kar Sara Lindström Shirley Hui Audrey Lemaçon Penny Soucy Joe Dennis Xia Jiang Asha Rostamianfar Hilary Finucane Manjeet K Bolla Lesley McGuffog Qin Wang Cora M Aalfs Marcia Adams Julian Adlard Simona Agata Shahana Ahmed Habibul Ahsan Kristiina Aittomäki Fares Al-Ejeh Jamie Allen Christine B Ambrosone Christopher I Amos Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Norbert Arnold Kristan J Aronson Bernd Auber Paul L Auer Margreet G E M Ausems Jacopo Azzollini François Bacot Judith Balmaña Monica Barile Laure Barjhoux Rosa B Barkardottir Myrto Barrdahl Daniel Barnes Daniel Barrowdale Caroline Baynes Matthias W Beckmann Javier Benitez Marina Bermisheva Leslie Bernstein Yves-Jean Bignon Kathleen R Blazer Marinus J Blok Carl Blomqvist William Blot Kristie Bobolis Bram Boeckx Natalia V Bogdanova Anders Bojesen Stig E Bojesen Bernardo Bonanni Anne-Lise Børresen-Dale Aniko Bozsik Angela R Bradbury Judith S Brand Hiltrud Brauch Hermann Brenner Brigitte Bressac-de Paillerets Carole Brewer Louise Brinton Per Broberg Angela Brooks-Wilson Joan Brunet Thomas Brüning Barbara Burwinkel Saundra S Buys Jinyoung Byun Qiuyin Cai Trinidad Caldés Maria A Caligo Ian Campbell Federico Canzian Olivier Caron Angel Carracedo Brian D Carter J Esteban Castelao Laurent Castera Virginie Caux-Moncoutier Salina B Chan Jenny Chang-Claude Stephen J Chanock Xiaoqing Chen Ting-Yuan David Cheng Jocelyne Chiquette Hans Christiansen Kathleen B M Claes Christine L Clarke Thomas Conner Don M Conroy Jackie Cook Emilie Cordina-Duverger Sten Cornelissen Isabelle Coupier Angela Cox David G Cox Simon S Cross Katarina Cuk Julie M Cunningham Kamila Czene Mary B Daly Francesca Damiola Hatef Darabi Rosemarie Davidson Kim De Leeneer Peter Devilee Ed Dicks Orland Diez Yuan Chun Ding Nina Ditsch Kimberly F Doheny Susan M Domchek Cecilia M Dorfling Thilo Dörk Isabel Dos-Santos-Silva Stéphane Dubois Pierre-Antoine Dugué Martine Dumont Alison M Dunning Lorraine Durcan Miriam Dwek Bernd Dworniczak Diana Eccles Ros Eeles Hans Ehrencrona Ursula Eilber Bent Ejlertsen Arif B Ekici A Heather Eliassen Christoph Engel Mikael Eriksson Laura Fachal Laurence Faivre Peter A Fasching Ulrike Faust Jonine Figueroa Dieter Flesch-Janys Olivia Fletcher Henrik Flyger William D Foulkes Eitan Friedman Lin Fritschi Debra Frost Marike Gabrielson Pragna Gaddam Marilie D Gammon Patricia A Ganz Susan M Gapstur Judy Garber Vanesa Garcia-Barberan José A García-Sáenz Mia M Gaudet Marion Gauthier-Villars Andrea Gehrig Vassilios Georgoulias Anne-Marie Gerdes Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Paul Goodfellow Mark H Greene Grethe I Grenaker Alnæs Mervi Grip Jacek Gronwald Anne Grundy Daphne Gschwantler-Kaulich Pascal Guénel Qi Guo Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Emily Hallberg Ute Hamann Nathalie Hamel Susan Hankinson Thomas V O Hansen Patricia Harrington Steven N Hart Jaana M Hartikainen Catherine S Healey Alexander Hein Sonja Helbig Alex Henderson Jane Heyworth Belynda Hicks Peter Hillemanns Shirley Hodgson Frans B Hogervorst Antoinette Hollestelle Maartje J Hooning Bob Hoover John L Hopper Chunling Hu Guanmengqian Huang Peter J Hulick Keith Humphreys David J Hunter Evgeny N Imyanitov Claudine Isaacs Motoki Iwasaki Louise Izatt Anna Jakubowska Paul James Ramunas Janavicius Wolfgang Janni Uffe Birk Jensen Esther M John Nichola Johnson Kristine Jones Michael Jones Arja Jukkola-Vuorinen Rudolf Kaaks Maria Kabisch Katarzyna Kaczmarek Daehee Kang Karin Kast Renske Keeman Michael J Kerin Carolien M Kets Machteld Keupers Sofia Khan Elza Khusnutdinova Johanna I Kiiski Sung-Won Kim Julia A Knight Irene Konstantopoulou Veli-Matti Kosma Vessela N Kristensen Torben A Kruse Ava Kwong Anne-Vibeke Lænkholm Yael Laitman Fiona Lalloo Diether Lambrechts Keren Landsman Christine Lasset Conxi Lazaro Loic Le Marchand Julie Lecarpentier Andrew Lee Eunjung Lee Jong Won Lee Min Hyuk Lee Flavio Lejbkowicz Fabienne Lesueur Jingmei Li Jenna Lilyquist Anne Lincoln Annika Lindblom Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jirong Long Jennifer T Loud Jan Lubinski Craig Luccarini Michael Lush Robert J MacInnis Tom Maishman Enes Makalic Ivana Maleva Kostovska Kathleen E Malone Siranoush Manoukian JoAnn E Manson Sara Margolin John W M Martens Maria Elena Martinez Keitaro Matsuo Dimitrios Mavroudis Sylvie Mazoyer Catriona McLean Hanne Meijers-Heijboer Primitiva Menéndez Jeffery Meyer Hui Miao Austin Miller Nicola Miller Gillian Mitchell Marco Montagna Kenneth Muir Anna Marie Mulligan Claire Mulot Sue Nadesan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Ines Nevelsteen Dieter Niederacher Sune F Nielsen Børge G Nordestgaard Aaron Norman Robert L Nussbaum Edith Olah Olufunmilayo I Olopade Janet E Olson Curtis Olswold Kai-Ren Ong Jan C Oosterwijk Nick Orr Ana Osorio V Shane Pankratz Laura Papi Tjoung-Won Park-Simon Ylva Paulsson-Karlsson Rachel Lloyd Inge Søkilde Pedersen Bernard Peissel Ana Peixoto Jose I A Perez Paolo Peterlongo Julian Peto Georg Pfeiler Catherine M Phelan Mila Pinchev Dijana Plaseska-Karanfilska Bruce Poppe Mary E Porteous Ross Prentice Nadege Presneau Darya Prokofieva Elizabeth Pugh Miquel Angel Pujana Katri Pylkäs Brigitte Rack Paolo Radice Nazneen Rahman Johanna Rantala Christine Rappaport-Fuerhauser Gad Rennert Hedy S Rennert Valerie Rhenius Kerstin Rhiem Andrea Richardson Gustavo C Rodriguez Atocha Romero Jane Romm Matti A Rookus Anja Rudolph Thomas Ruediger Emmanouil Saloustros Joyce Sanders Dale P Sandler Suleeporn Sangrajrang Elinor J Sawyer Daniel F Schmidt Minouk J Schoemaker Fredrick Schumacher Peter Schürmann Lukas Schwentner Christopher Scott Rodney J Scott Sheila Seal Leigha Senter Caroline Seynaeve Mitul Shah Priyanka Sharma Chen-Yang Shen Xin Sheng Hermela Shimelis Martha J Shrubsole Xiao-Ou Shu Lucy E Side Christian F Singer Christof Sohn Melissa C Southey John J Spinelli Amanda B Spurdle Christa Stegmaier Dominique Stoppa-Lyonnet Grzegorz Sukiennicki Harald Surowy Christian Sutter Anthony Swerdlow Csilla I Szabo Rulla M Tamimi Yen Y Tan Jack A Taylor Maria-Isabel Tejada Maria Tengström Soo H Teo Mary B Terry Daniel C Tessier Alex Teulé Kathrin Thöne Darcy L Thull Maria Grazia Tibiletti Laima Tihomirova Marc Tischkowitz Amanda E Toland Rob A E M Tollenaar Ian Tomlinson Ling Tong Diana Torres Martine Tranchant Thérèse Truong Kathy Tucker Nadine Tung Jonathan Tyrer Hans-Ulrich Ulmer Celine Vachon Christi J van Asperen David Van Den Berg Ans M W van den Ouweland Elizabeth J van Rensburg Liliana Varesco Raymonda Varon-Mateeva Ana Vega Alessandra Viel Joseph Vijai Daniel Vincent Jason Vollenweider Lisa Walker Zhaoming Wang Shan Wang-Gohrke Barbara Wappenschmidt Clarice R Weinberg Jeffrey N Weitzel Camilla Wendt Jelle Wesseling Alice S Whittemore Juul T Wijnen Walter Willett Robert Winqvist Alicja Wolk Anna H Wu Lucy Xia Xiaohong R Yang Drakoulis Yannoukakos Daniela Zaffaroni Wei Zheng Bin Zhu Argyrios Ziogas Elad Ziv Kristin K Zorn Manuela Gago-Dominguez Arto Mannermaa Håkan Olsson Manuel R Teixeira Jennifer Stone Kenneth Offit Laura Ottini Sue K Park Mads Thomassen Per Hall Alfons Meindl Rita K Schmutzler Arnaud Droit Gary D Bader Paul D P Pharoah Fergus J Couch Douglas F Easton Peter Kraft Georgia Chenevix-Trench Montserrat García-Closas Marjanka K Schmidt Antonis C Antoniou Jacques Simard

Nat Genet 2017 Dec 23;49(12):1767-1778. Epub 2017 Oct 23.

Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Québec, Canada.

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http://dx.doi.org/10.1038/ng.3785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808456PMC
December 2017

Association analysis identifies 65 new breast cancer risk loci.

Authors:
Kyriaki Michailidou Sara Lindström Joe Dennis Jonathan Beesley Shirley Hui Siddhartha Kar Audrey Lemaçon Penny Soucy Dylan Glubb Asha Rostamianfar Manjeet K Bolla Qin Wang Jonathan Tyrer Ed Dicks Andrew Lee Zhaoming Wang Jamie Allen Renske Keeman Ursula Eilber Juliet D French Xiao Qing Chen Laura Fachal Karen McCue Amy E McCart Reed Maya Ghoussaini Jason S Carroll Xia Jiang Hilary Finucane Marcia Adams Muriel A Adank Habibul Ahsan Kristiina Aittomäki Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Kristan J Aronson Banu Arun Paul L Auer François Bacot Myrto Barrdahl Caroline Baynes Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Leslie Bernstein Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Bernardo Bonanni Anne-Lise Børresen-Dale Judith S Brand Hiltrud Brauch Paul Brennan Hermann Brenner Louise Brinton Per Broberg Ian W Brock Annegien Broeks Angela Brooks-Wilson Sara Y Brucker Thomas Brüning Barbara Burwinkel Katja Butterbach Qiuyin Cai Hui Cai Trinidad Caldés Federico Canzian Angel Carracedo Brian D Carter Jose E Castelao Tsun L Chan Ting-Yuan David Cheng Kee Seng Chia Ji-Yeob Choi Hans Christiansen Christine L Clarke Margriet Collée Don M Conroy Emilie Cordina-Duverger Sten Cornelissen David G Cox Angela Cox Simon S Cross Julie M Cunningham Kamila Czene Mary B Daly Peter Devilee Kimberly F Doheny Thilo Dörk Isabel Dos-Santos-Silva Martine Dumont Lorraine Durcan Miriam Dwek Diana M Eccles Arif B Ekici A Heather Eliassen Carolina Ellberg Mingajeva Elvira Christoph Engel Mikael Eriksson Peter A Fasching Jonine Figueroa Dieter Flesch-Janys Olivia Fletcher Henrik Flyger Lin Fritschi Valerie Gaborieau Marike Gabrielson Manuela Gago-Dominguez Yu-Tang Gao Susan M Gapstur José A García-Sáenz Mia M Gaudet Vassilios Georgoulias Graham G Giles Gord Glendon Mark S Goldberg David E Goldgar Anna González-Neira Grethe I Grenaker Alnæs Mervi Grip Jacek Gronwald Anne Grundy Pascal Guénel Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Ute Hamann Nathalie Hamel Susan Hankinson Patricia Harrington Steven N Hart Jaana M Hartikainen Mikael Hartman Alexander Hein Jane Heyworth Belynda Hicks Peter Hillemanns Dona N Ho Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Ming-Feng Hou Chia-Ni Hsiung Guanmengqian Huang Keith Humphreys Junko Ishiguro Hidemi Ito Motoki Iwasaki Hiroji Iwata Anna Jakubowska Wolfgang Janni Esther M John Nichola Johnson Kristine Jones Michael Jones Arja Jukkola-Vuorinen Rudolf Kaaks Maria Kabisch Katarzyna Kaczmarek Daehee Kang Yoshio Kasuga Michael J Kerin Sofia Khan Elza Khusnutdinova Johanna I Kiiski Sung-Won Kim Julia A Knight Veli-Matti Kosma Vessela N Kristensen Ute Krüger Ava Kwong Diether Lambrechts Loic Le Marchand Eunjung Lee Min Hyuk Lee Jong Won Lee Chuen Neng Lee Flavio Lejbkowicz Jingmei Li Jenna Lilyquist Annika Lindblom Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jirong Long Artitaya Lophatananon Jan Lubinski Craig Luccarini Michael P Lux Edmond S K Ma Robert J MacInnis Tom Maishman Enes Makalic Kathleen E Malone Ivana Maleva Kostovska Arto Mannermaa Siranoush Manoukian JoAnn E Manson Sara Margolin Shivaani Mariapun Maria Elena Martinez Keitaro Matsuo Dimitrios Mavroudis James McKay Catriona McLean Hanne Meijers-Heijboer Alfons Meindl Primitiva Menéndez Usha Menon Jeffery Meyer Hui Miao Nicola Miller Nur Aishah Mohd Taib Kenneth Muir Anna Marie Mulligan Claire Mulot Susan L Neuhausen Heli Nevanlinna Patrick Neven Sune F Nielsen Dong-Young Noh Børge G Nordestgaard Aaron Norman Olufunmilayo I Olopade Janet E Olson Håkan Olsson Curtis Olswold Nick Orr V Shane Pankratz Sue K Park Tjoung-Won Park-Simon Rachel Lloyd Jose I A Perez Paolo Peterlongo Julian Peto Kelly-Anne Phillips Mila Pinchev Dijana Plaseska-Karanfilska Ross Prentice Nadege Presneau Darya Prokofyeva Elizabeth Pugh Katri Pylkäs Brigitte Rack Paolo Radice Nazneen Rahman Gadi Rennert Hedy S Rennert Valerie Rhenius Atocha Romero Jane Romm Kathryn J Ruddy Thomas Rüdiger Anja Rudolph Matthias Ruebner Emiel J T Rutgers Emmanouil Saloustros Dale P Sandler Suleeporn Sangrajrang Elinor J Sawyer Daniel F Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Fredrick Schumacher Peter Schürmann Rodney J Scott Christopher Scott Sheila Seal Caroline Seynaeve Mitul Shah Priyanka Sharma Chen-Yang Shen Grace Sheng Mark E Sherman Martha J Shrubsole Xiao-Ou Shu Ann Smeets Christof Sohn Melissa C Southey John J Spinelli Christa Stegmaier Sarah Stewart-Brown Jennifer Stone Daniel O Stram Harald Surowy Anthony Swerdlow Rulla Tamimi Jack A Taylor Maria Tengström Soo H Teo Mary Beth Terry Daniel C Tessier Somchai Thanasitthichai Kathrin Thöne Rob A E M Tollenaar Ian Tomlinson Ling Tong Diana Torres Thérèse Truong Chiu-Chen Tseng Shoichiro Tsugane Hans-Ulrich Ulmer Giske Ursin Michael Untch Celine Vachon Christi J van Asperen David Van Den Berg Ans M W van den Ouweland Lizet van der Kolk Rob B van der Luijt Daniel Vincent Jason Vollenweider Quinten Waisfisz Shan Wang-Gohrke Clarice R Weinberg Camilla Wendt Alice S Whittemore Hans Wildiers Walter Willett Robert Winqvist Alicja Wolk Anna H Wu Lucy Xia Taiki Yamaji Xiaohong R Yang Cheng Har Yip Keun-Young Yoo Jyh-Cherng Yu Wei Zheng Ying Zheng Bin Zhu Argyrios Ziogas Elad Ziv Sunil R Lakhani Antonis C Antoniou Arnaud Droit Irene L Andrulis Christopher I Amos Fergus J Couch Paul D P Pharoah Jenny Chang-Claude Per Hall David J Hunter Roger L Milne Montserrat García-Closas Marjanka K Schmidt Stephen J Chanock Alison M Dunning Stacey L Edwards Gary D Bader Georgia Chenevix-Trench Jacques Simard Peter Kraft Douglas F Easton

Nature 2017 11 23;551(7678):92-94. Epub 2017 Oct 23.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1038/nature24284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798588PMC
November 2017

Identification of genes carrying rare variants of moderate to large effect in schizophrenia: A replication study.

Schizophr Res 2017 Nov 21. Epub 2017 Nov 21.

Instituto de Investigación Sanitaria (IDIS) de Santiago de Compostela, Complexo Hospitalario Universitario de Santiago de Compostela (CHUS), Servizo Galego de Saúde (SERGAS), Santiago de Compostela, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.schres.2017.11.021DOI Listing
November 2017

A new panel of SNPs to assess thyroid carcinoma risk: a pilot study in a Brazilian admixture population.

BMC Med Genet 2017 11 25;18(1):140. Epub 2017 Nov 25.

Department of Clinical Analysis and Toxicology of Federal University of Rio Grande do Norte, Rua General Gustavo Cordeiro de Farias s/n, CEP 59012-570, Natal, Rio Grande do Norte, Brazil.

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http://dx.doi.org/10.1186/s12881-017-0502-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702224PMC
November 2017

Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection.

Int J Legal Med 2017 Sep 8;131(5):1211-1219. Epub 2017 Apr 8.

Xenética de Enfermidades Cardiovasculares e Oftalmolóxicas, Instituto de Investigación Sanitaria de Santiago de Compostela, Complexo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1007/s00414-017-1583-9DOI Listing
September 2017

Revised guidelines for the publication of genetic population data.

Forensic Sci Int Genet 2017 09 23;30:160-163. Epub 2017 Jun 23.

Institute of Forensic Sciences Luis Concheiro, Genomics Medicine Group, University of Santiago de Compostela, Santiago de Compostela, Spain; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1016/j.fsigen.2017.06.007DOI Listing
September 2017

Forensic genetics and genomics: Much more than just a human affair.

PLoS Genet 2017 Sep 21;13(9):e1006960. Epub 2017 Sep 21.

Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal.

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http://dx.doi.org/10.1371/journal.pgen.1006960DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5608170PMC
September 2017

Copy number variation analysis of patients with intellectual disability from North-West Spain.

Gene 2017 Aug 12;626:189-199. Epub 2017 May 12.

Grupo de Medicina Xenómica, CIBERER, Fundación Pública Galega de Medicina Xenómica - SERGAS, Santiago de Compostela, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2017.05.032DOI Listing
August 2017

Touch Processing and Social Behavior in ASD.

J Autism Dev Disord 2017 08;47(8):2425-2433

Grupo de Genética de Enfermedades Neurológicas, Instituto de Investigación Sanitaria de Santiago IDIS-SERGAS., CiMUS (Centro Singular de Investigación en Medicina Molecular e Enfermidades Crónicas), Barcelona Avenue, s/n, 15782, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1007/s10803-017-3163-8DOI Listing
August 2017

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

Am J Hum Genet 2017 Jul;101(1):87-103

Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Genetics of Cognitive Dysfunction Laboratory, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501871PMC
July 2017

Making progress in education: The EUROFORGEN master degree pilot project in forensic genetics.

Forensic Sci Int Genet 2017 05 6;28:e12-e13. Epub 2017 Mar 6.

Institute of Legal Medicine, Faculty of Medicine, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1016/j.fsigen.2017.03.006DOI Listing
May 2017

Medico-legal perspectives on sudden cardiac death in young athletes.

Int J Legal Med 2017 Mar 21;131(2):393-409. Epub 2016 Sep 21.

Cardiovascular Genetics Center, Gencardio Institut d'Investigacions Biomèdiques de Girona (IDIBGI), Girona, Spain.

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http://dx.doi.org/10.1007/s00414-016-1452-yDOI Listing
March 2017

Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia.

Nat Commun 2017 02 6;8:14175. Epub 2017 Feb 6.

Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1038/ncomms14175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5303820PMC
February 2017

Genetic structure of the Kuwaiti population revealed by paternal lineages.

Am J Hum Biol 2016 Mar-Apr;28(2):203-12. Epub 2015 Aug 21.

Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax, BP1177 Route Sidi Mansour Km 6, Sfax, Tunisia.

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http://dx.doi.org/10.1002/ajhb.22773DOI Listing
December 2016

Gene-gene interactions between DRD3, MRP4 and CYP2B6 polymorphisms and its influence on the pharmacokinetic parameters of efavirenz in HIV infected patients.

Drug Metab Pharmacokinet 2016 Oct 27;31(5):349-355. Epub 2016 Jun 27.

Grupo de Medicina Xenómica, CIBERER, CIMUS, Universidad de Santiago de Compostela, Avenida de Barcelona s/n, 15782 Santiago de Compostela, Spain; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, P.O. Box 80216, 21589 Jeddah, Saudi Arabia; Fundación Medicina Xenómica, SERGAS, Complexo Hospitalario Universitario de Santiago, Travesía da Choupana s/n, 15706 Santiago de Compostela, Spain.

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http://dx.doi.org/10.1016/j.dmpk.2016.06.001DOI Listing
October 2016

PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.

Eur J Clin Invest 2016 Sep 18;46(9):787-94. Epub 2016 Aug 18.

Xenética de Enfermidades Cardiovasculares e Oftalmolóxicas, Instituto de Investigación Sanitaria de Santiago de Compostela, Complexo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, A Coruña, Spain.

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http://dx.doi.org/10.1111/eci.12662DOI Listing
September 2016

Targeted resequencing of regulatory regions at schizophrenia risk loci: Role of rare functional variants at chromatin repressive states.

Schizophr Res 2016 07 8;174(1-3):10-16. Epub 2016 Apr 8.

Instituto de Investigación Sanitaria (IDIS) de Santiago de Compostela, Complexo Hospitalario Universitario de Santiago de Compostela (CHUS), Servizo Galego de Saúde (SERGAS), Santiago de Compostela, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.schres.2016.03.029DOI Listing
July 2016

Comprehensive molecular testing in patients with high functioning autism spectrum disorder.

Mutat Res 2016 Feb-Mar;784-785:46-52. Epub 2016 Jan 6.

Biochemistry and Molecular Genetics Department, Hospital Clinic, Villarroel 170, 08036 Barcelona, Spain; CIBER of Rare Diseases (CIBERER), Villarroel 170, 08036 Barcelona, Spain; IDIBAPS, Rosselló 149, 08036 Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.mrfmmm.2015.12.006DOI Listing
June 2016

Genome-wide association study in Spanish identifies ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), as a novel asthma susceptibility gene.

J Allergy Clin Immunol 2016 Mar 24;137(3):964-6. Epub 2015 Nov 24.

Research Unit, Hospital Universitario N.S. de Candelaria, Tenerife, Spain; Applied Genomics Group (G2A), Genetics Laboratory, Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias (CIBICAN), Universidad de La Laguna, Tenerife, Spain; CIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.09.051DOI Listing
March 2016

Synaptotagmin XI in Parkinson's disease: New evidence from an association study in Spain and Mexico.

J Neurol Sci 2016 Mar 8;362:321-5. Epub 2016 Feb 8.

Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain; Grupo de Medicina Xenómica, Fundación Pública Galega de Medicina Xenómica-SERGAS, Santiago de Compostela, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Institute of Health Carlos III, Spain.

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http://dx.doi.org/10.1016/j.jns.2016.02.014DOI Listing
March 2016

Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility.

J Psychiatr Res 2015 Jul-Aug;66-67:38-44. Epub 2015 Apr 22.

Instituto de Investigación Sanitaria (IDIS) de Santiago de Compostela, Complexo Hospitalario Universitario de Santiago (CHUS), Servizo Galego de Saúde (SERGAS), Santiago de Compostela, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jpsychires.2015.04.013DOI Listing
February 2016

The relationship between surname frequency and Y chromosome variation in Spain.

Eur J Hum Genet 2016 Jan 22;24(1):120-8. Epub 2015 Apr 22.

Human Evolutionary Genetics Group, Department of Zoology, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1038/ejhg.2015.75DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795233PMC
January 2016

Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder.

Am J Med Genet A 2015 Dec 18;167A(12):3113-20. Epub 2015 Aug 18.

Departamento de Pediatria, Hospital Clinico Universitario de Santiago de Compostela - Unidad de Neurologia Pediatrica, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1002/ajmg.a.37291DOI Listing
December 2015

Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion.

Am J Med Genet A 2015 Dec 29;167A(12):3121-9. Epub 2015 Aug 29.

Grupo de Medicina Xenomica, Universidade de Santiago de Compostela, Centro Nacional de Genotipado-Plataforma de Recursos Biomoleculares y Bioinformaticos-Instituto de Salud Carlos III (CeGen-PRB2-ISCIII), Santiago de Compostela, Spain.

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http://dx.doi.org/10.1002/ajmg.a.37292DOI Listing
December 2015

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

Authors:
Timothy H T Cheng Deborah Thompson Jodie Painter Tracy O'Mara Maggie Gorman Lynn Martin Claire Palles Angela Jones Daniel D Buchanan Aung Ko Win John Hopper Mark Jenkins Noralane M Lindor Polly A Newcomb Steve Gallinger David Conti Fred Schumacher Graham Casey Graham G Giles Paul Pharoah Julian Peto Angela Cox Anthony Swerdlow Fergus Couch Julie M Cunningham Ellen L Goode Stacey J Winham Diether Lambrechts Peter Fasching Barbara Burwinkel Hermann Brenner Hiltrud Brauch Jenny Chang-Claude Helga B Salvesen Vessela Kristensen Hatef Darabi Jingmei Li Tao Liu Annika Lindblom Per Hall Magdalena Echeverry de Polanco Monica Sans Angel Carracedo Sergi Castellvi-Bel Augusto Rojas-Martinez Samuel Aguiar Jnr Manuel R Teixeira Alison M Dunning Joe Dennis Geoffrey Otton Tony Proietto Elizabeth Holliday John Attia Katie Ashton Rodney J Scott Mark McEvoy Sean C Dowdy Brooke L Fridley Henrica M J Werner Jone Trovik Tormund S Njolstad Emma Tham Miriam Mints Ingo Runnebaum Peter Hillemanns Thilo Dörk Frederic Amant Stefanie Schrauwen Alexander Hein Matthias W Beckmann Arif Ekici Kamila Czene Alfons Meindl Manjeet K Bolla Kyriaki Michailidou Jonathan P Tyrer Qin Wang Shahana Ahmed Catherine S Healey Mitul Shah Daniela Annibali Jeroen Depreeuw Nada A Al-Tassan Rebecca Harris Brian F Meyer Nicola Whiffin Fay J Hosking Ben Kinnersley Susan M Farrington Maria Timofeeva Albert Tenesa Harry Campbell Robert W Haile Shirley Hodgson Luis Carvajal-Carmona Jeremy P Cheadle Douglas Easton Malcolm Dunlop Richard Houlston Amanda Spurdle Ian Tomlinson

Sci Rep 2015 12 1;5:17369. Epub 2015 Dec 1.

Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.

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http://dx.doi.org/10.1038/srep17369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664893PMC
December 2015

Fine mapping of the myosin light chain kinase (MYLK) gene replicates the association with asthma in populations of Spanish descent.

J Allergy Clin Immunol 2015 Oct 27;136(4):1116-8.e9. Epub 2015 May 27.

CIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid, Spain; Research Unit, Hospital Universitario N.S. de Candelaria, Tenerife, Spain; Applied Genomics Group (G2A), Genetics Laboratory, Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias, Universidad de La Laguna, Tenerife, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.04.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4699578PMC
October 2015

Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood.

Arch Dis Child 2015 Oct 13;100(10):952-6. Epub 2015 Aug 13.

Xenética de Enfermidades Cardiovasculares, Instituto de Investigación Sanitaria de Santiago, Red de Investigación Cardiovascular (RIC), Santiago De Compostela, Spain Grupo de Medicina Xenómica, University of Santiago de Compostela, Santiago de Compostela, Spain Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1136/archdischild-2015-308200DOI Listing
October 2015

Exploration of SNP variants affecting hair colour prediction in Europeans.

Int J Legal Med 2015 Sep 11;129(5):963-75. Epub 2015 Jul 11.

Forensic Genetics Unit, Institute of Legal Medicine, University of Santiago de Compostela, A Coruña, Spain.

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http://dx.doi.org/10.1007/s00414-015-1226-yDOI Listing
September 2015

Long Survival and Severe Toxicity Under 5-Fluorouracil-Based Therapy in a Patient With Colorectal Cancer Who Harbors a Germline Codon-Stop Mutation in TYMS.

Mayo Clin Proc 2015 Sep 22;90(9):1298-303. Epub 2015 Jul 22.

Galician Public Foundation for Genomic Medicine, SERGAS, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1016/j.mayocp.2015.05.005DOI Listing
September 2015

Completion of a worldwide reference panel of samples for an ancestry informative Indel assay.

Forensic Sci Int Genet 2015 Jul 25;17:75-80. Epub 2015 Mar 25.

Forensic Genetics Unit, Institute of Legal Medicine, University of Santiago de Compostela, Spain.

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http://dx.doi.org/10.1016/j.fsigen.2015.03.011DOI Listing
July 2015

[Deletion of the RPS6KA3 gene in a female with a classical phenotype of Coffin-Lowry syndrome including stimulus-induced drop attacks].

Rev Neurol 2015 Jul;61(2):94-6

Complejo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, Espana.

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July 2015

Delimiting Allelic Imbalance of TYMS by Allele-Specific Analysis.

Medicine (Baltimore) 2015 Jul;94(27):e1091

From the Grupo de Medicina Xenómica (EB-B, RC, AC), CIBERER, Universidad de Santiago de Compostela, Spain; Fundación Pública Galega de Medicina Xenómica (AC, FB), SERGAS, Santiago de Compostela, Spain; and Center of Excellence in Genomic Medicine Research (CEGMR) (AC), King Abdulaziz University, Jeddah, KSA.

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http://dx.doi.org/10.1097/MD.0000000000001091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504634PMC
July 2015

Paternal lineages in Libya inferred from Y-chromosome haplogroups.

Am J Phys Anthropol 2015 Jun 11;157(2):242-51. Epub 2015 Feb 11.

Research Group on Molecular and Cellular Screening Processes, Laboratory of Microorganisms and Biomolecules, Centre of Biotechnology of Sfax, Tunisia.

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http://dx.doi.org/10.1002/ajpa.22705DOI Listing
June 2015

A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features.

Am J Med Genet A 2015 Jun 2;167(6):1315-22. Epub 2015 Apr 2.

Departamento de Pediatria, Hospital Clinico Universitario de Santiago de Compostela - Unidad de Neurologia Pediatrica, Santiago de Compostela, Spain.

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http://doi.wiley.com/10.1002/ajmg.a.36909
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http://dx.doi.org/10.1002/ajmg.a.36909DOI Listing
June 2015

Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome.

Am J Med Genet A 2015 Jun 21;167(6):1369-73. Epub 2015 Apr 21.

Departamento de Pediatria, Hospital Clinico Universitario de Santiago de Compostela, Unidad de Neurologia Pediatrica, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1002/ajmg.a.37038DOI Listing
June 2015

Inferior frontal gyrus white matter abnormalities in obsessive-compulsive disorder.

Neuroreport 2015 Jun;26(9):495-500

aDepartment of Physical Medicine and Rehabilitation, Spaulding Center of Neuromodulation, Spaulding Rehabilitation Hospital and Massachusetts General Hospital, Harvard Medical School bBouvé College of Health Sciences, Northeastern University, Boston, Massachusetts, USA cNeuropsychophysiology Lab, CIPsi, School of Psychology, University of Minho, Braga dCUF Porto Hospital, Department of Psychiatry, Porto eDepartment of Psychiatry, University of Coimbra Hospitals, Coimbra, Portugal fForensic Genetics Unit, University of Santiago de Compostela, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1097/WNR.0000000000000377DOI Listing
June 2015

A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.

Clin Case Rep 2015 Jun 9;3(6):415-23. Epub 2015 Apr 9.

Grupo de Medicina Xenomica, Centro Nacional de Genotipado - Plataforma de Recursos Biomoleculares y Bioinformaticos - Instituto de Salud Carlos III (CeGen-PRB2-ISCIII), Universidade de Santiago de Compostela Santiago de Compostela, Spain ; Grupo de Medicina Xenomica, CIBERER, Fundacion Publica Galega de Medicina Xenomica - SERGAS Santiago de Compostela, Spain ; Center of Excellence in Genomic Medicine Research, King Abdulaziz University Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1002/ccr3.255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498854PMC
June 2015

Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.

Appl Transl Genom 2015 Jun 26;5:33-6. Epub 2015 Jun 26.

Instituto de Investigación Sanitaria de Santiago-IDIS, Spain; Grupo de Medicina Xenómica, CIBERER, Universidade de Santiago de Compostela, Spain; Fundación Pública Galega de Medicina Xenómica, Spain.

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http://dx.doi.org/10.1016/j.atg.2015.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745395PMC
June 2015

Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer.

Cancer 2015 May 29;121(9):1395-404. Epub 2014 Dec 29.

Department of Gastroenterology, Barcelona Hospital Clinic, Networked Biomedical Research Center on Hepatic and Digestive Diseases (CIBERehd), August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1002/cncr.29190DOI Listing
May 2015

Association between SNPs of Metalloproteinases and Prostaglandin F2α Receptor Genes and Latanoprost Response in Open-Angle Glaucoma.

Ophthalmology 2015 May 19;122(5):1040-8.e4. Epub 2015 Feb 19.

Instituto de Oftalmobiologia Aplicada, IOBA, Universidad de Valladolid, Valladolid, Spain; Hospital Clinico Universitario de Valladolid, Valladolid, Spain.

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http://dx.doi.org/10.1016/j.ophtha.2014.12.038DOI Listing
May 2015

An efficient screening method for simultaneous detection of recurrent copy number variants associated with psychiatric disorders.

Clin Chim Acta 2015 May 20;445:34-40. Epub 2015 Mar 20.

Instituto de Investigación Sanitaria (IDIS) de Santiago de Compostela, Servizo Galego de Saúde (SERGAS), Santiago de Compostela, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2015.03.013DOI Listing
May 2015

affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling.

BMC Bioinformatics 2015 May 20;16:167. Epub 2015 May 20.

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

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http://dx.doi.org/10.1186/s12859-015-0608-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438530PMC
May 2015

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk.

Authors:
Jodie N Painter Tracy A O'Mara Jyotsna Batra Timothy Cheng Felicity A Lose Joe Dennis Kyriaki Michailidou Jonathan P Tyrer Shahana Ahmed Kaltin Ferguson Catherine S Healey Susanne Kaufmann Kristine M Hillman Carina Walpole Leire Moya Pamela Pollock Angela Jones Kimberley Howarth Lynn Martin Maggie Gorman Shirley Hodgson Ma Magdalena Echeverry De Polanco Monica Sans Angel Carracedo Sergi Castellvi-Bel Augusto Rojas-Martinez Erika Santos Manuel R Teixeira Luis Carvajal-Carmona Xiao-Ou Shu Jirong Long Wei Zheng Yong-Bing Xiang Grant W Montgomery Penelope M Webb Rodney J Scott Mark McEvoy John Attia Elizabeth Holliday Nicholas G Martin Dale R Nyholt Anjali K Henders Peter A Fasching Alexander Hein Matthias W Beckmann Stefan P Renner Thilo Dörk Peter Hillemanns Matthias Dürst Ingo Runnebaum Diether Lambrechts Lieve Coenegrachts Stefanie Schrauwen Frederic Amant Boris Winterhoff Sean C Dowdy Ellen L Goode Attila Teoman Helga B Salvesen Jone Trovik Tormund S Njolstad Henrica M J Werner Katie Ashton Tony Proietto Geoffrey Otton Gerasimos Tzortzatos Miriam Mints Emma Tham Per Hall Kamila Czene Jianjun Liu Jingmei Li John L Hopper Melissa C Southey Arif B Ekici Matthias Ruebner Nicola Johnson Julian Peto Barbara Burwinkel Frederik Marme Hermann Brenner Aida K Dieffenbach Alfons Meindl Hiltrud Brauch Annika Lindblom Jeroen Depreeuw Matthieu Moisse Jenny Chang-Claude Anja Rudolph Fergus J Couch Janet E Olson Graham G Giles Fiona Bruinsma Julie M Cunningham Brooke L Fridley Anne-Lise Børresen-Dale Vessela N Kristensen Angela Cox Anthony J Swerdlow Nicholas Orr Manjeet K Bolla Qin Wang Rachel Palmieri Weber Zhihua Chen Mitul Shah Juliet D French Paul D P Pharoah Alison M Dunning Ian Tomlinson Douglas F Easton Stacey L Edwards Deborah J Thompson Amanda B Spurdle

Hum Mol Genet 2015 Mar 6;24(5):1478-92. Epub 2014 Nov 6.

QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia,

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http://dx.doi.org/10.1093/hmg/ddu552DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4321445PMC
March 2015

The multiethnic ancestry of Bolivians as revealed by the analysis of Y-chromosome markers.

Forensic Sci Int Genet 2015 Jan 1;14:210-8. Epub 2014 Nov 1.

Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Universidade de Santiago de Compostela, Galicia, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.fsigen.2014.10.023DOI Listing
January 2015