Ana Vega

Ana Vega

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Ana Vega

Ana Vega

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A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening.

J Inherit Metab Dis 2019 May 21;42(3):407-413. Epub 2019 Feb 21.

Centro Diagnóstico de Enfermedades Moleculares (CEDEM), Centro de Biología Molecular, Universidad Autónoma de Madrid, CIBERER, idiPAZ, Madrid, Spain.

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http://dx.doi.org/10.1002/jimd.12063DOI Listing
May 2019

Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect.

Acta Derm Venereol 2019 05 23. Epub 2019 May 23.

Molecular Medicine, Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.

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http://dx.doi.org/10.2340/00015555-3227DOI Listing
May 2019

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Authors:
Michael T Parsons Emma Tudini Hongyan Li Eric Hahnen Barbara Wappenschmidt Lidia Feliubadaló Cora M Aalfs Simona Agata Kristiina Aittomäki Elisa Alducci María Concepción Alonso-Cerezo Norbert Arnold Bernd Auber Rachel Austin Jacopo Azzollini Judith Balmaña Elena Barbieri Claus R Bartram Ana Blanco Britta Blümcke Sandra Bonache Bernardo Bonanni Åke Borg Beatrice Bortesi Joan Brunet Carla Bruzzone Karolin Bucksch Giulia Cagnoli Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Gabriele L Capone Sandrine M Caputo Ileana Carnevali Estela Carrasco Virginie Caux-Moncoutier Pietro Cavalli Giulia Cini Edward M Clarke Paola Concolino Elisa J Cops Laura Cortesi Fergus J Couch Esther Darder Miguel de la Hoya Michael Dean Irmgard Debatin Jesús Del Valle Capucine Delnatte Nicolas Derive Orland Diez Nina Ditsch Susan M Domchek Véronique Dutrannoy Diana M Eccles Hans Ehrencrona Ute Enders D Gareth Evans Ulrike Faust Ute Felbor Irene Feroce Miriam Fine Henrique C R Galvao Gaetana Gambino Andrea Gehrig Francesca Gensini Anne-Marie Gerdes Aldo Germani Jutta Giesecke Viviana Gismondi Carolina Gómez Encarna B Gómez Garcia Sara González Elia Grau Sabine Grill Eva Gross Aliana Guerrieri-Gonzaga Marine Guillaud-Bataille Sara Gutiérrez-Enríquez Thomas Haaf Karl Hackmann Thomas V O Hansen Marion Harris Jan Hauke Tilman Heinrich Heide Hellebrand Karen N Herold Ellen Honisch Judit Horvath Claude Houdayer Verena Hübbel Silvia Iglesias Angel Izquierdo Paul A James Linda A M Janssen Udo Jeschke Silke Kaulfuß Katharina Keupp Marion Kiechle Alexandra Kölbl Sophie Krieger Torben A Kruse Anders Kvist Fiona Lalloo Mirjam Larsen Vanessa L Lattimore Charlotte Lautrup Susanne Ledig Elena Leinert Alexandra L Lewis Joanna Lim Markus Loeffler Adrià López-Fernández Emanuela Lucci-Cordisco Nicolai Maass Siranoush Manoukian Monica Marabelli Laura Matricardi Alfons Meindl Rodrigo D Michelli Setareh Moghadasi Alejandro Moles-Fernández Marco Montagna Gemma Montalban Alvaro N Monteiro Eva Montes Luigi Mori Lidia Moserle Clemens R Müller Christoph Mundhenke Nadia Naldi Katherine L Nathanson Matilde Navarro Heli Nevanlinna Cassandra B Nichols Dieter Niederacher Henriette R Nielsen Kai-Ren Ong Nicholas Pachter Edenir I Palmero Laura Papi Inge Sokilde Pedersen Bernard Peissel Pedro Pérez-Segura Katharina Pfeifer Marta Pineda Esther Pohl-Rescigno Nicola K Poplawski Berardino Porfirio Anne S Quante Juliane Ramser Rui M Reis Françoise Revillion Kerstin Rhiem Barbara Riboli Julia Ritter Daniela Rivera Paula Rofes Andreas Rump Monica Salinas Ana María Sánchez de Abajo Gunnar Schmidt Ulrike Schoenwiese Jochen Seggewiß Ares Solanes Doris Steinemann Mathias Stiller Dominique Stoppa-Lyonnet Kelly J Sullivan Rachel Susman Christian Sutter Sean V Tavtigian Soo H Teo Alex Teulé Mads Thomassen Maria Grazia Tibiletti Silvia Tognazzo Amanda E Toland Eva Tornero Therese Törngren Sara Torres-Esquius Angela Toss Alison H Trainer Christi J van Asperen Marion T van Mackelenbergh Liliana Varesco Gardenia Vargas-Parra Raymonda Varon Ana Vega Ángela Velasco Anne-Sophie Vesper Alessandra Viel Maaike P G Vreeswijk Sebastian A Wagner Anke Waha Logan C Walker Rhiannon J Walters Shan Wang-Gohrke Bernhard H F Weber Wilko Weichert Kerstin Wieland Lisa Wiesmüller Isabell Witzel Achim Wöckel Emma R Woodward Silke Zachariae Valentina Zampiga Christine Zeder-Göß Conxi Lázaro Arcangela De Nicolo Paolo Radice Christoph Engel Rita K Schmutzler David E Goldgar Amanda B Spurdle

Hum Mutat 2019 May 27. Epub 2019 May 27.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/humu.23818DOI Listing
May 2019

Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters.

Acta Paediatr 2019 Apr 1;108(4):763-765. Epub 2019 Feb 1.

Fundación Pública Galega de Medicina Xenómica-SERGAS, CIBERER, IDIS, Grupo de Medicina Xenómica-Universidade de Santiago de Compostela, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1111/apa.14694DOI Listing
April 2019

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.

Authors:
Manuel A Ferreira Eric R Gamazon Fares Al-Ejeh Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Adalgeir Arason Volker Arndt Kristan J Aronson Banu K Arun Ella Asseryanis Jacopo Azzollini Judith Balmaña Daniel R Barnes Daniel Barrowdale Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Katarzyna Białkowska Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Ake Borg Hiltrud Brauch Hermann Brenner Annegien Broeks Barbara Burwinkel Trinidad Caldés Maria A Caligo Daniele Campa Ian Campbell Federico Canzian Jonathan Carter Brian D Carter Jose E Castelao Jenny Chang-Claude Stephen J Chanock Hans Christiansen Wendy K Chung Kathleen B M Claes Christine L Clarke Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Miguel de la Hoya Joe Dennis Peter Devilee Orland Diez Thilo Dörk Alison M Dunning Miriam Dwek Diana M Eccles Bent Ejlertsen Carolina Ellberg Christoph Engel Mikael Eriksson Peter A Fasching Olivia Fletcher Henrik Flyger Eitan Friedman Debra Frost Marike Gabrielson Manuela Gago-Dominguez Patricia A Ganz Susan M Gapstur Judy Garber Montserrat García-Closas José A García-Sáenz Mia M Gaudet Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Jacek Gronwald Pascal Guénel Christopher A Haiman Per Hall Ute Hamann Wei He Jane Heyworth Frans B L Hogervorst Antoinette Hollestelle Robert N Hoover John L Hopper Peter J Hulick Keith Humphreys Evgeny N Imyanitov Claudine Isaacs Milena Jakimovska Anna Jakubowska Paul A James Ramunas Janavicius Rachel C Jankowitz Esther M John Nichola Johnson Vijai Joseph Beth Y Karlan Elza Khusnutdinova Johanna I Kiiski Yon-Dschun Ko Michael E Jones Irene Konstantopoulou Vessela N Kristensen Yael Laitman Diether Lambrechts Conxi Lazaro Goska Leslie Jenny Lester Fabienne Lesueur Sara Lindström Jirong Long Jennifer T Loud Jan Lubiński Enes Makalic Arto Mannermaa Mehdi Manoochehri Sara Margolin Tabea Maurer Dimitrios Mavroudis Lesley McGuffog Alfons Meindl Usha Menon Kyriaki Michailidou Austin Miller Marco Montagna Fernando Moreno Lidia Moserle Anna Marie Mulligan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Ines Nevelsteen Finn C Nielsen Liene Nikitina-Zake Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Håkan Olsson Ana Osorio Janos Papp Tjoung-Won Park-Simon Michael T Parsons Inge Sokilde Pedersen Ana Peixoto Paolo Peterlongo Paul D P Pharoah Dijana Plaseska-Karanfilska Bruce Poppe Nadege Presneau Paolo Radice Johanna Rantala Gad Rennert Harvey A Risch Emmanouil Saloustros Kristin Sanden Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Priyanka Sharma Xiao-Ou Shu Jacques Simard Christian F Singer Penny Soucy Melissa C Southey John J Spinelli Amanda B Spurdle Jennifer Stone Anthony J Swerdlow William J Tapper Jack A Taylor Manuel R Teixeira Mary Beth Terry Alex Teulé Mads Thomassen Kathrin Thöne Darcy L Thull Marc Tischkowitz Amanda E Toland Diana Torres Thérèse Truong Nadine Tung Celine M Vachon Christi J van Asperen Ans M W van den Ouweland Elizabeth J van Rensburg Ana Vega Alessandra Viel Qin Wang Barbara Wappenschmidt Jeffrey N Weitzel Camilla Wendt Robert Winqvist Xiaohong R Yang Drakoulis Yannoukakos Argyrios Ziogas Peter Kraft Antonis C Antoniou Wei Zheng Douglas F Easton Roger L Milne Jonathan Beesley Georgia Chenevix-Trench

Nat Commun 2019 04 15;10(1):1741. Epub 2019 Apr 15.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.

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http://dx.doi.org/10.1038/s41467-018-08053-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465407PMC
April 2019

Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

Authors:
Fredrick R Schumacher Ali Amin Al Olama Sonja I Berndt Sara Benlloch Mahbubl Ahmed Edward J Saunders Tokhir Dadaev Daniel Leongamornlert Ezequiel Anokian Clara Cieza-Borrella Chee Goh Mark N Brook Xin Sheng Laura Fachal Joe Dennis Jonathan Tyrer Kenneth Muir Artitaya Lophatananon Victoria L Stevens Susan M Gapstur Brian D Carter Catherine M Tangen Phyllis J Goodman Ian M Thompson Jyotsna Batra Suzanne Chambers Leire Moya Judith Clements Lisa Horvath Wayne Tilley Gail P Risbridger Henrik Gronberg Markus Aly Tobias Nordström Paul Pharoah Nora Pashayan Johanna Schleutker Teuvo L J Tammela Csilla Sipeky Anssi Auvinen Demetrius Albanes Stephanie Weinstein Alicja Wolk Niclas Håkansson Catharine M L West Alison M Dunning Neil Burnet Lorelei A Mucci Edward Giovannucci Gerald L Andriole Olivier Cussenot Géraldine Cancel-Tassin Stella Koutros Laura E Beane Freeman Karina Dalsgaard Sorensen Torben Falck Orntoft Michael Borre Lovise Maehle Eli Marie Grindedal David E Neal Jenny L Donovan Freddie C Hamdy Richard M Martin Ruth C Travis Tim J Key Robert J Hamilton Neil E Fleshner Antonio Finelli Sue Ann Ingles Mariana C Stern Barry S Rosenstein Sarah L Kerns Harry Ostrer Yong-Jie Lu Hong-Wei Zhang Ninghan Feng Xueying Mao Xin Guo Guomin Wang Zan Sun Graham G Giles Melissa C Southey Robert J MacInnis Liesel M FitzGerald Adam S Kibel Bettina F Drake Ana Vega Antonio Gómez-Caamaño Robert Szulkin Martin Eklund Manolis Kogevinas Javier Llorca Gemma Castaño-Vinyals Kathryn L Penney Meir Stampfer Jong Y Park Thomas A Sellers Hui-Yi Lin Janet L Stanford Cezary Cybulski Dominika Wokolorczyk Jan Lubinski Elaine A Ostrander Milan S Geybels Børge G Nordestgaard Sune F Nielsen Maren Weischer Rasmus Bisbjerg Martin Andreas Røder Peter Iversen Hermann Brenner Katarina Cuk Bernd Holleczek Christiane Maier Manuel Luedeke Thomas Schnoeller Jeri Kim Christopher J Logothetis Esther M John Manuel R Teixeira Paula Paulo Marta Cardoso Susan L Neuhausen Linda Steele Yuan Chun Ding Kim De Ruyck Gert De Meerleer Piet Ost Azad Razack Jasmine Lim Soo-Hwang Teo Daniel W Lin Lisa F Newcomb Davor Lessel Marija Gamulin Tomislav Kulis Radka Kaneva Nawaid Usmani Sandeep Singhal Chavdar Slavov Vanio Mitev Matthew Parliament Frank Claessens Steven Joniau Thomas Van den Broeck Samantha Larkin Paul A Townsend Claire Aukim-Hastie Manuela Gago-Dominguez Jose Esteban Castelao Maria Elena Martinez Monique J Roobol Guido Jenster Ron H N van Schaik Florence Menegaux Thérèse Truong Yves Akoli Koudou Jianfeng Xu Kay-Tee Khaw Lisa Cannon-Albright Hardev Pandha Agnieszka Michael Stephen N Thibodeau Shannon K McDonnell Daniel J Schaid Sara Lindstrom Constance Turman Jing Ma David J Hunter Elio Riboli Afshan Siddiq Federico Canzian Laurence N Kolonel Loic Le Marchand Robert N Hoover Mitchell J Machiela Zuxi Cui Peter Kraft Christopher I Amos David V Conti Douglas F Easton Fredrik Wiklund Stephen J Chanock Brian E Henderson Zsofia Kote-Jarai Christopher A Haiman Rosalind A Eeles

Nat Genet 2019 02;51(2):363

Institute of Cancer Research, London, UK.

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http://www.nature.com/articles/s41588-018-0330-6
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http://dx.doi.org/10.1038/s41588-018-0330-6DOI Listing
February 2019

Effectiveness of 8 weeks of ledipasvir/sofosbuvir for hepatitis C in HCV-HIV-coinfected patients.

Antivir Ther 2019 ;24(1):11-17

University of Maryland School of Pharmacy, Baltimore, MD, USA.

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http://dx.doi.org/10.3851/IMP3263DOI Listing
January 2019

Circulating Metabolic Biomarkers of Screen-Detected Prostate Cancer in the ProtecT Study.

Cancer Epidemiol Biomarkers Prev 2019 Jan 23;28(1):208-216. Epub 2018 Oct 23.

MRC Integrative Epidemiology Unit at the University of Bristol, Bristol, United Kingdom.

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http://cebp.aacrjournals.org/lookup/doi/10.1158/1055-9965.EP
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http://dx.doi.org/10.1158/1055-9965.EPI-18-0079DOI Listing
January 2019

Author Correction: Germline variation at 8q24 and prostate cancer risk in men of European ancestry.

Nat Commun 2019 01 17;10(1):382. Epub 2019 Jan 17.

Department of Preventive Medicine, Keck School of Medicine, University of Southern California/Norris Comprehensive Cancer Center, Los Angeles, CA, 90033, USA.

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http://dx.doi.org/10.1038/s41467-019-08293-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336778PMC
January 2019

Shared heritability and functional enrichment across six solid cancers.

Authors:
Xia Jiang Hilary K Finucane Fredrick R Schumacher Stephanie L Schmit Jonathan P Tyrer Younghun Han Kyriaki Michailidou Corina Lesseur Karoline B Kuchenbaecker Joe Dennis David V Conti Graham Casey Mia M Gaudet Jeroen R Huyghe Demetrius Albanes Melinda C Aldrich Angeline S Andrew Irene L Andrulis Hoda Anton-Culver Antonis C Antoniou Natalia N Antonenkova Susanne M Arnold Kristan J Aronson Banu K Arun Elisa V Bandera Rosa B Barkardottir Daniel R Barnes Jyotsna Batra Matthias W Beckmann Javier Benitez Sara Benlloch Andrew Berchuck Sonja I Berndt Heike Bickeböller Stephanie A Bien Carl Blomqvist Stefania Boccia Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Hiltrud Brauch Hermann Brenner James D Brenton Mark N Brook Joan Brunet Hans Brunnström Daniel D Buchanan Barbara Burwinkel Ralf Butzow Gabriella Cadoni Trinidad Caldés Maria A Caligo Ian Campbell Peter T Campbell Géraldine Cancel-Tassin Lisa Cannon-Albright Daniele Campa Neil Caporaso André L Carvalho Andrew T Chan Jenny Chang-Claude Stephen J Chanock Chu Chen David C Christiani Kathleen B M Claes Frank Claessens Judith Clements J Margriet Collée Marcia Cruz Correa Fergus J Couch Angela Cox Julie M Cunningham Cezary Cybulski Kamila Czene Mary B Daly Anna deFazio Peter Devilee Orland Diez Manuela Gago-Dominguez Jenny L Donovan Thilo Dörk Eric J Duell Alison M Dunning Miriam Dwek Diana M Eccles Christopher K Edlund Digna R Velez Edwards Carolina Ellberg D Gareth Evans Peter A Fasching Robert L Ferris Triantafillos Liloglou Jane C Figueiredo Olivia Fletcher Renée T Fortner Florentia Fostira Silvia Franceschi Eitan Friedman Steven J Gallinger Patricia A Ganz Judy Garber José A García-Sáenz Simon A Gayther Graham G Giles Andrew K Godwin Mark S Goldberg David E Goldgar Ellen L Goode Marc T Goodman Gary Goodman Kjell Grankvist Mark H Greene Henrik Gronberg Jacek Gronwald Pascal Guénel Niclas Håkansson Per Hall Ute Hamann Freddie C Hamdy Robert J Hamilton Jochen Hampe Aage Haugen Florian Heitz Rolando Herrero Peter Hillemanns Michael Hoffmeister Estrid Høgdall Yun-Chul Hong John L Hopper Richard Houlston Peter J Hulick David J Hunter David G Huntsman Gregory Idos Evgeny N Imyanitov Sue Ann Ingles Claudine Isaacs Anna Jakubowska Paul James Mark A Jenkins Mattias Johansson Mikael Johansson Esther M John Amit D Joshi Radka Kaneva Beth Y Karlan Linda E Kelemen Tabea Kühl Kay-Tee Khaw Elza Khusnutdinova Adam S Kibel Lambertus A Kiemeney Jeri Kim Susanne K Kjaer Julia A Knight Manolis Kogevinas Zsofia Kote-Jarai Stella Koutros Vessela N Kristensen Jolanta Kupryjanczyk Martin Lacko Stephan Lam Diether Lambrechts Maria Teresa Landi Philip Lazarus Nhu D Le Eunjung Lee Flavio Lejbkowicz Heinz-Josef Lenz Goska Leslie Davor Lessel Jenny Lester Douglas A Levine Li Li Christopher I Li Annika Lindblom Noralane M Lindor Geoffrey Liu Fotios Loupakis Jan Lubiński Lovise Maehle Christiane Maier Arto Mannermaa Loic Le Marchand Sara Margolin Taymaa May Lesley McGuffog Alfons Meindl Pooja Middha Austin Miller Roger L Milne Robert J MacInnis Francesmary Modugno Marco Montagna Victor Moreno Kirsten B Moysich Lorelei Mucci Kenneth Muir Anna Marie Mulligan Katherine L Nathanson David E Neal Andrew R Ness Susan L Neuhausen Heli Nevanlinna Polly A Newcomb Lisa F Newcomb Finn Cilius Nielsen Liene Nikitina-Zake Børge G Nordestgaard Robert L Nussbaum Kenneth Offit Edith Olah Ali Amin Al Olama Olufunmilayo I Olopade Andrew F Olshan Håkan Olsson Ana Osorio Hardev Pandha Jong Y Park Nora Pashayan Michael T Parsons Tanja Pejovic Kathryn L Penney Wilbert H M Peters Catherine M Phelan Amanda I Phipps Dijana Plaseska-Karanfilska Miranda Pring Darya Prokofyeva Paolo Radice Kari Stefansson Susan J Ramus Leon Raskin Gad Rennert Hedy S Rennert Elizabeth J van Rensburg Marjorie J Riggan Harvey A Risch Angela Risch Monique J Roobol Barry S Rosenstein Mary Anne Rossing Kim De Ruyck Emmanouil Saloustros Dale P Sandler Elinor J Sawyer Matthew B Schabath Johanna Schleutker Marjanka K Schmidt V Wendy Setiawan Hongbing Shen Erin M Siegel Weiva Sieh Christian F Singer Martha L Slattery Karina Dalsgaard Sorensen Melissa C Southey Amanda B Spurdle Janet L Stanford Victoria L Stevens Sebastian Stintzing Jennifer Stone Karin Sundfeldt Rebecca Sutphen Anthony J Swerdlow Eloiza H Tajara Catherine M Tangen Adonina Tardon Jack A Taylor M Dawn Teare Manuel R Teixeira Mary Beth Terry Kathryn L Terry Stephen N Thibodeau Mads Thomassen Line Bjørge Marc Tischkowitz Amanda E Toland Diana Torres Paul A Townsend Ruth C Travis Nadine Tung Shelley S Tworoger Cornelia M Ulrich Nawaid Usmani Celine M Vachon Els Van Nieuwenhuysen Ana Vega Miguel Elías Aguado-Barrera Qin Wang Penelope M Webb Clarice R Weinberg Stephanie Weinstein Mark C Weissler Jeffrey N Weitzel Catharine M L West Emily White Alice S Whittemore H-Erich Wichmann Fredrik Wiklund Robert Winqvist Alicja Wolk Penella Woll Michael Woods Anna H Wu Xifeng Wu Drakoulis Yannoukakos Wei Zheng Shanbeh Zienolddiny Argyrios Ziogas Kristin K Zorn Jacqueline M Lane Richa Saxena Duncan Thomas Rayjean J Hung Brenda Diergaarde James McKay Ulrike Peters Li Hsu Montserrat García-Closas Rosalind A Eeles Georgia Chenevix-Trench Paul J Brennan Christopher A Haiman Jacques Simard Douglas F Easton Stephen B Gruber Paul D P Pharoah Alkes L Price Bogdan Pasaniuc Christopher I Amos Peter Kraft Sara Lindström

Nat Commun 2019 01 25;10(1):431. Epub 2019 Jan 25.

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave. N., Seattle, WA, 98109-1024, USA.

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http://dx.doi.org/10.1038/s41467-018-08054-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347624PMC
January 2019

Development of an isotoxic decision support system integrating genetic markers of toxicity for the implantation of a rectum spacer.

Acta Oncol 2018 Nov 28;57(11):1499-1505. Epub 2018 Jun 28.

a The D-Lab: Decision Support for Precision Medicine, GROW - School for Oncology and Developmental Biology , Maastricht University Medical Centre+ , Maastricht , the Netherlands.

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http://dx.doi.org/10.1080/0284186X.2018.1484156DOI Listing
November 2018

Germline variation at 8q24 and prostate cancer risk in men of European ancestry.

Nat Commun 2018 11 5;9(1):4616. Epub 2018 Nov 5.

Department of Preventive Medicine, Keck School of Medicine, University of Southern California/Norris Comprehensive Cancer Center, Los Angeles, CA, 90033, USA.

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http://www.nature.com/articles/s41467-018-06863-1
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http://dx.doi.org/10.1038/s41467-018-06863-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218483PMC
November 2018

ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications.

J Dermatol Sci 2018 Sep 5;91(3):328-331. Epub 2018 Jun 5.

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

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http://dx.doi.org/10.1016/j.jdermsci.2018.05.012DOI Listing
September 2018

A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk.

Authors:
Yingchang Lu Alicia Beeghly-Fadiel Lang Wu Xingyi Guo Bingshan Li Joellen M Schildkraut Hae Kyung Im Yian A Chen Jennifer B Permuth Brett M Reid Jamie K Teer Kirsten B Moysich Irene L Andrulis Hoda Anton-Culver Banu K Arun Elisa V Bandera Rosa B Barkardottir Daniel R Barnes Javier Benitez Line Bjorge James Brenton Ralf Butzow Trinidad Caldes Maria A Caligo Ian Campbell Jenny Chang-Claude Kathleen B M Claes Fergus J Couch Daniel W Cramer Mary B Daly Anna deFazio Joe Dennis Orland Diez Susan M Domchek Thilo Dörk Douglas F Easton Diana M Eccles Peter A Fasching Renée T Fortner George Fountzilas Eitan Friedman Patricia A Ganz Judy Garber Graham G Giles Andrew K Godwin David E Goldgar Marc T Goodman Mark H Greene Jacek Gronwald Ute Hamann Florian Heitz Michelle A T Hildebrandt Claus K Høgdall Antoinette Hollestelle Peter J Hulick David G Huntsman Evgeny N Imyanitov Claudine Isaacs Anna Jakubowska Paul James Beth Y Karlan Linda E Kelemen Lambertus A Kiemeney Susanne K Kjaer Ava Kwong Nhu D Le Goska Leslie Fabienne Lesueur Douglas A Levine Amalia Mattiello Taymaa May Lesley McGuffog Iain A McNeish Melissa A Merritt Francesmary Modugno Marco Montagna Susan L Neuhausen Heli Nevanlinna Finn C Nielsen Liene Nikitina-Zake Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Sara H Olson Håkan Olsson Ana Osorio Sue K Park Michael T Parsons Petra H M Peeters Tanja Pejovic Paolo Peterlongo Catherine M Phelan Miquel Angel Pujana Susan J Ramus Gad Rennert Harvey Risch Gustavo C Rodriguez Cristina Rodríguez-Antona Isabelle Romieu Matti A Rookus Mary Anne Rossing Iwona K Rzepecka Dale P Sandler Rita K Schmutzler Veronica W Setiawan Priyanka Sharma Weiva Sieh Jacques Simard Christian F Singer Honglin Song Melissa C Southey Amanda B Spurdle Rebecca Sutphen Anthony J Swerdlow Manuel R Teixeira Soo H Teo Mads Thomassen Marc Tischkowitz Amanda E Toland Antonia Trichopoulou Nadine Tung Shelley S Tworoger Elizabeth J van Rensburg Adriaan Vanderstichele Ana Vega Digna Velez Edwards Penelope M Webb Jeffrey N Weitzel Nicolas Wentzensen Emily White Alicja Wolk Anna H Wu Drakoulis Yannoukakos Kristin K Zorn Simon A Gayther Antonis C Antoniou Andrew Berchuck Ellen L Goode Georgia Chenevix-Trench Thomas A Sellers Paul D P Pharoah Wei Zheng Jirong Long

Cancer Res 2018 Sep 27;78(18):5419-5430. Epub 2018 Jul 27.

Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee.

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http://dx.doi.org/10.1158/0008-5472.CAN-18-0951DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139053PMC
September 2018

Model for Early Detection of Breast Cancer in Low-Resource Areas: The Experience in Peru.

J Glob Oncol 2018 09;4:1-7

Carolyn Bain, Tara Hayes Constant, Ines Contreras, Jose Jeronimo, and Vivien Tsu, PATH, Seattle, WA; and Ana Maria Burga Vega, Instituto Regional de Enfermedades Neoplasicas - Norte, Trujillo, Peru.

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http://dx.doi.org/10.1200/JGO.17.00006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6223404PMC
September 2018

Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

Authors:
Fredrick R Schumacher Ali Amin Al Olama Sonja I Berndt Sara Benlloch Mahbubl Ahmed Edward J Saunders Tokhir Dadaev Daniel Leongamornlert Ezequiel Anokian Clara Cieza-Borrella Chee Goh Mark N Brook Xin Sheng Laura Fachal Joe Dennis Jonathan Tyrer Kenneth Muir Artitaya Lophatananon Victoria L Stevens Susan M Gapstur Brian D Carter Catherine M Tangen Phyllis J Goodman Ian M Thompson Jyotsna Batra Suzanne Chambers Leire Moya Judith Clements Lisa Horvath Wayne Tilley Gail P Risbridger Henrik Gronberg Markus Aly Tobias Nordström Paul Pharoah Nora Pashayan Johanna Schleutker Teuvo L J Tammela Csilla Sipeky Anssi Auvinen Demetrius Albanes Stephanie Weinstein Alicja Wolk Niclas Håkansson Catharine M L West Alison M Dunning Neil Burnet Lorelei A Mucci Edward Giovannucci Gerald L Andriole Olivier Cussenot Géraldine Cancel-Tassin Stella Koutros Laura E Beane Freeman Karina Dalsgaard Sorensen Torben Falck Orntoft Michael Borre Lovise Maehle Eli Marie Grindedal David E Neal Jenny L Donovan Freddie C Hamdy Richard M Martin Ruth C Travis Tim J Key Robert J Hamilton Neil E Fleshner Antonio Finelli Sue Ann Ingles Mariana C Stern Barry S Rosenstein Sarah L Kerns Harry Ostrer Yong-Jie Lu Hong-Wei Zhang Ninghan Feng Xueying Mao Xin Guo Guomin Wang Zan Sun Graham G Giles Melissa C Southey Robert J MacInnis Liesel M FitzGerald Adam S Kibel Bettina F Drake Ana Vega Antonio Gómez-Caamaño Robert Szulkin Martin Eklund Manolis Kogevinas Javier Llorca Gemma Castaño-Vinyals Kathryn L Penney Meir Stampfer Jong Y Park Thomas A Sellers Hui-Yi Lin Janet L Stanford Cezary Cybulski Dominika Wokolorczyk Jan Lubinski Elaine A Ostrander Milan S Geybels Børge G Nordestgaard Sune F Nielsen Maren Weischer Rasmus Bisbjerg Martin Andreas Røder Peter Iversen Hermann Brenner Katarina Cuk Bernd Holleczek Christiane Maier Manuel Luedeke Thomas Schnoeller Jeri Kim Christopher J Logothetis Esther M John Manuel R Teixeira Paula Paulo Marta Cardoso Susan L Neuhausen Linda Steele Yuan Chun Ding Kim De Ruyck Gert De Meerleer Piet Ost Azad Razack Jasmine Lim Soo-Hwang Teo Daniel W Lin Lisa F Newcomb Davor Lessel Marija Gamulin Tomislav Kulis Radka Kaneva Nawaid Usmani Sandeep Singhal Chavdar Slavov Vanio Mitev Matthew Parliament Frank Claessens Steven Joniau Thomas Van den Broeck Samantha Larkin Paul A Townsend Claire Aukim-Hastie Manuela Gago-Dominguez Jose Esteban Castelao Maria Elena Martinez Monique J Roobol Guido Jenster Ron H N van Schaik Florence Menegaux Thérèse Truong Yves Akoli Koudou Jianfeng Xu Kay-Tee Khaw Lisa Cannon-Albright Hardev Pandha Agnieszka Michael Stephen N Thibodeau Shannon K McDonnell Daniel J Schaid Sara Lindstrom Constance Turman Jing Ma David J Hunter Elio Riboli Afshan Siddiq Federico Canzian Laurence N Kolonel Loic Le Marchand Robert N Hoover Mitchell J Machiela Zuxi Cui Peter Kraft Christopher I Amos David V Conti Douglas F Easton Fredrik Wiklund Stephen J Chanock Brian E Henderson Zsofia Kote-Jarai Christopher A Haiman Rosalind A Eeles

Nat Genet 2018 07 11;50(7):928-936. Epub 2018 Jun 11.

Institute of Cancer Research, London, UK.

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http://dx.doi.org/10.1038/s41588-018-0142-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6568012PMC
July 2018

Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.

Authors:
Tokhir Dadaev Edward J Saunders Paul J Newcombe Ezequiel Anokian Daniel A Leongamornlert Mark N Brook Clara Cieza-Borrella Martina Mijuskovic Sarah Wakerell Ali Amin Al Olama Fredrick R Schumacher Sonja I Berndt Sara Benlloch Mahbubl Ahmed Chee Goh Xin Sheng Zhuo Zhang Kenneth Muir Koveela Govindasami Artitaya Lophatananon Victoria L Stevens Susan M Gapstur Brian D Carter Catherine M Tangen Phyllis Goodman Ian M Thompson Jyotsna Batra Suzanne Chambers Leire Moya Judith Clements Lisa Horvath Wayne Tilley Gail Risbridger Henrik Gronberg Markus Aly Tobias Nordström Paul Pharoah Nora Pashayan Johanna Schleutker Teuvo L J Tammela Csilla Sipeky Anssi Auvinen Demetrius Albanes Stephanie Weinstein Alicja Wolk Niclas Hakansson Catharine West Alison M Dunning Neil Burnet Lorelei Mucci Edward Giovannucci Gerald Andriole Olivier Cussenot Géraldine Cancel-Tassin Stella Koutros Laura E Beane Freeman Karina Dalsgaard Sorensen Torben Falck Orntoft Michael Borre Lovise Maehle Eli Marie Grindedal David E Neal Jenny L Donovan Freddie C Hamdy Richard M Martin Ruth C Travis Tim J Key Robert J Hamilton Neil E Fleshner Antonio Finelli Sue Ann Ingles Mariana C Stern Barry Rosenstein Sarah Kerns Harry Ostrer Yong-Jie Lu Hong-Wei Zhang Ninghan Feng Xueying Mao Xin Guo Guomin Wang Zan Sun Graham G Giles Melissa C Southey Robert J MacInnis Liesel M FitzGerald Adam S Kibel Bettina F Drake Ana Vega Antonio Gómez-Caamaño Laura Fachal Robert Szulkin Martin Eklund Manolis Kogevinas Javier Llorca Gemma Castaño-Vinyals Kathryn L Penney Meir Stampfer Jong Y Park Thomas A Sellers Hui-Yi Lin Janet L Stanford Cezary Cybulski Dominika Wokolorczyk Jan Lubinski Elaine A Ostrander Milan S Geybels Børge G Nordestgaard Sune F Nielsen Maren Weisher Rasmus Bisbjerg Martin Andreas Røder Peter Iversen Hermann Brenner Katarina Cuk Bernd Holleczek Christiane Maier Manuel Luedeke Thomas Schnoeller Jeri Kim Christopher J Logothetis Esther M John Manuel R Teixeira Paula Paulo Marta Cardoso Susan L Neuhausen Linda Steele Yuan Chun Ding Kim De Ruyck Gert De Meerleer Piet Ost Azad Razack Jasmine Lim Soo-Hwang Teo Daniel W Lin Lisa F Newcomb Davor Lessel Marija Gamulin Tomislav Kulis Radka Kaneva Nawaid Usmani Chavdar Slavov Vanio Mitev Matthew Parliament Sandeep Singhal Frank Claessens Steven Joniau Thomas Van den Broeck Samantha Larkin Paul A Townsend Claire Aukim-Hastie Manuela Gago-Dominguez Jose Esteban Castelao Maria Elena Martinez Monique J Roobol Guido Jenster Ron H N van Schaik Florence Menegaux Thérèse Truong Yves Akoli Koudou Jianfeng Xu Kay-Tee Khaw Lisa Cannon-Albright Hardev Pandha Agnieszka Michael Andrzej Kierzek Stephen N Thibodeau Shannon K McDonnell Daniel J Schaid Sara Lindstrom Constance Turman Jing Ma David J Hunter Elio Riboli Afshan Siddiq Federico Canzian Laurence N Kolonel Loic Le Marchand Robert N Hoover Mitchell J Machiela Peter Kraft Matthew Freedman Fredrik Wiklund Stephen Chanock Brian E Henderson Douglas F Easton Christopher A Haiman Rosalind A Eeles David V Conti Zsofia Kote-Jarai

Nat Commun 2018 06 11;9(1):2256. Epub 2018 Jun 11.

The Institute of Cancer Research, London, SW7 3RP, UK.

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http://dx.doi.org/10.1038/s41467-018-04109-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5995836PMC
June 2018

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Authors:
Timothy R Rebbeck Tara M Friebel Eitan Friedman Ute Hamann Dezheng Huo Ava Kwong Edith Olah Olufunmilayo I Olopade Angela R Solano Soo-Hwang Teo Mads Thomassen Jeffrey N Weitzel T L Chan Fergus J Couch David E Goldgar Torben A Kruse Edenir Inêz Palmero Sue Kyung Park Diana Torres Elizabeth J van Rensburg Lesley McGuffog Michael T Parsons Goska Leslie Cora M Aalfs Julio Abugattas Julian Adlard Simona Agata Kristiina Aittomäki Lesley Andrews Irene L Andrulis Adalgeir Arason Norbert Arnold Banu K Arun Ella Asseryanis Leo Auerbach Jacopo Azzollini Judith Balmaña Monica Barile Rosa B Barkardottir Daniel Barrowdale Javier Benitez Andreas Berger Raanan Berger Amie M Blanco Kathleen R Blazer Marinus J Blok Valérie Bonadona Bernardo Bonanni Angela R Bradbury Carole Brewer Bruno Buecher Saundra S Buys Trinidad Caldes Almuth Caliebe Maria A Caligo Ian Campbell Sandrine M Caputo Jocelyne Chiquette Wendy K Chung Kathleen B M Claes J Margriet Collée Jackie Cook Rosemarie Davidson Miguel de la Hoya Kim De Leeneer Antoine de Pauw Capucine Delnatte Orland Diez Yuan Chun Ding Nina Ditsch Susan M Domchek Cecilia M Dorfling Carolina Velazquez Bernd Dworniczak Jacqueline Eason Douglas F Easton Ros Eeles Hans Ehrencrona Bent Ejlertsen Christoph Engel Stefanie Engert D Gareth Evans Laurence Faivre Lidia Feliubadaló Sandra Fert Ferrer Lenka Foretova Jeffrey Fowler Debra Frost Henrique C R Galvão Patricia A Ganz Judy Garber Marion Gauthier-Villars Andrea Gehrig Anne-Marie Gerdes Paul Gesta Giuseppe Giannini Sophie Giraud Gord Glendon Andrew K Godwin Mark H Greene Jacek Gronwald Angelica Gutierrez-Barrera Eric Hahnen Jan Hauke Alex Henderson Julia Hentschel Frans B L Hogervorst Ellen Honisch Evgeny N Imyanitov Claudine Isaacs Louise Izatt Angel Izquierdo Anna Jakubowska Paul James Ramunas Janavicius Uffe Birk Jensen Esther M John Joseph Vijai Katarzyna Kaczmarek Beth Y Karlan Karin Kast KConFab Investigators Sung-Won Kim Irene Konstantopoulou Jacob Korach Yael Laitman Adriana Lasa Christine Lasset Conxi Lázaro Annette Lee Min Hyuk Lee Jenny Lester Fabienne Lesueur Annelie Liljegren Noralane M Lindor Michel Longy Jennifer T Loud Karen H Lu Jan Lubinski Eva Machackova Siranoush Manoukian Véronique Mari Cristina Martínez-Bouzas Zoltan Matrai Noura Mebirouk Hanne E J Meijers-Heijboer Alfons Meindl Arjen R Mensenkamp Ugnius Mickys Austin Miller Marco Montagna Kirsten B Moysich Anna Marie Mulligan Jacob Musinsky Susan L Neuhausen Heli Nevanlinna Joanne Ngeow Huu Phuc Nguyen Dieter Niederacher Henriette Roed Nielsen Finn Cilius Nielsen Robert L Nussbaum Kenneth Offit Anna Öfverholm Kai-Ren Ong Ana Osorio Laura Papi Janos Papp Barbara Pasini Inge Sokilde Pedersen Ana Peixoto Nina Peruga Paolo Peterlongo Esther Pohl Nisha Pradhan Karolina Prajzendanc Fabienne Prieur Pascal Pujol Paolo Radice Susan J Ramus Johanna Rantala Muhammad Usman Rashid Kerstin Rhiem Mark Robson Gustavo C Rodriguez Mark T Rogers Vilius Rudaitis Ane Y Schmidt Rita Katharina Schmutzler Leigha Senter Payal D Shah Priyanka Sharma Lucy E Side Jacques Simard Christian F Singer Anne-Bine Skytte Thomas P Slavin Katie Snape Hagay Sobol Melissa Southey Linda Steele Doris Steinemann Grzegorz Sukiennicki Christian Sutter Csilla I Szabo Yen Y Tan Manuel R Teixeira Mary Beth Terry Alex Teulé Abigail Thomas Darcy L Thull Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Sabine Topka Alison H Trainer Nadine Tung Christi J van Asperen Annemieke H van der Hout Lizet E van der Kolk Rob B van der Luijt Mattias Van Heetvelde Liliana Varesco Raymonda Varon-Mateeva Ana Vega Cynthia Villarreal-Garza Anna von Wachenfeldt Lisa Walker Shan Wang-Gohrke Barbara Wappenschmidt Bernhard H F Weber Drakoulis Yannoukakos Sook-Yee Yoon Cristina Zanzottera Jamal Zidan Kristin K Zorn Christina G Hutten Selkirk Peter J Hulick Georgia Chenevix-Trench Amanda B Spurdle Antonis C Antoniou Katherine L Nathanson

Hum Mutat 2018 05 12;39(5):593-620. Epub 2018 Mar 12.

Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.

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http://dx.doi.org/10.1002/humu.23406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903938PMC
May 2018

Fluoroquinolone Restriction as an Effective Antimicrobial Stewardship Intervention.

Curr Infect Dis Rep 2018 Mar 23;20(5). Epub 2018 Mar 23.

Department of Pharmacy Practice and Science, University of Maryland School of Pharmacy, N423, Baltimore, MD, 21201, USA.

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http://dx.doi.org/10.1007/s11908-018-0615-zDOI Listing
March 2018

The role of Ca -dependent K - channels at the rat corticostriatal synapses revealed by paired pulse stimulation.

Synapse 2018 02 22;72(2). Epub 2017 Nov 22.

Neurociencias, UIICSE, FES Iztacala, UNAM, México.

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http://dx.doi.org/10.1002/syn.22017DOI Listing
February 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 Between Clinical Pathways Leading to Medical Management and Prognosis in Patients With NSTEACS.

Rev Esp Cardiol (Engl Ed) 2017 Oct 11;70(10):817-824. Epub 2017 Mar 11.

Departement Cardiovasculaire Wetenschappen, Universiteit van Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1016/j.rec.2016.12.031DOI Listing
October 2017

Global geographical variations in ST-segment elevation myocardial infarction management and post-discharge mortality.

Int J Cardiol 2017 10 15;245:27-34. Epub 2017 Jul 15.

Centro Nacional de Investigaciones Cardiovasculares (CNIC), Spain; Instituto de investigación i+12 and Cardiology Department, Hospital Universitario 12 de Octubre, Spain; Universidad Complutense de Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2017.07.039DOI Listing
October 2017

KV1 and KV3 Potassium Channels Identified at Presynaptic Terminals of the Corticostriatal Synapses in Rat.

Neural Plast 2016 9;2016:8782518. Epub 2016 Jun 9.

Neurociencias (UIICSE), FES Iztacala, Universidad Nacional Autónoma de México (UNAM), 54090 Tlalnepantla, MEX, Mexico.

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http://dx.doi.org/10.1155/2016/8782518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4917754PMC
September 2017

A Review of HIV Pre-Exposure Prophylaxis: The Female Perspective.

Infect Dis Ther 2017 Sep 9;6(3):363-382. Epub 2017 Jun 9.

College of Pharmacy, University of Illinois at Chicago, Chicago, IL, USA.

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http://dx.doi.org/10.1007/s40121-017-0159-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5595773PMC
September 2017

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.

PLoS One 2017 29;12(6):e0179456. Epub 2017 Jun 29.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5491010PMC
September 2017

Predicting two-year mortality from discharge after acute coronary syndrome: An internationally-based risk score.

Eur Heart J Acute Cardiovasc Care 2017 Aug 1:2048872617719638. Epub 2017 Aug 1.

6 Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

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http://dx.doi.org/10.1177/2048872617719638DOI Listing
August 2017

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

Authors:
Catherine M Phelan Karoline B Kuchenbaecker Jonathan P Tyrer Siddhartha P Kar Kate Lawrenson Stacey J Winham Joe Dennis Ailith Pirie Marjorie J Riggan Ganna Chornokur Madalene A Earp Paulo C Lyra Janet M Lee Simon Coetzee Jonathan Beesley Lesley McGuffog Penny Soucy Ed Dicks Andrew Lee Daniel Barrowdale Julie Lecarpentier Goska Leslie Cora M Aalfs Katja K H Aben Marcia Adams Julian Adlard Irene L Andrulis Hoda Anton-Culver Natalia Antonenkova Gerasimos Aravantinos Norbert Arnold Banu K Arun Brita Arver Jacopo Azzollini Judith Balmaña Susana N Banerjee Laure Barjhoux Rosa B Barkardottir Yukie Bean Matthias W Beckmann Alicia Beeghly-Fadiel Javier Benitez Marina Bermisheva Marcus Q Bernardini Michael J Birrer Line Bjorge Amanda Black Kenneth Blankstein Marinus J Blok Clara Bodelon Natalia Bogdanova Anders Bojesen Bernardo Bonanni Åke Borg Angela R Bradbury James D Brenton Carole Brewer Louise Brinton Per Broberg Angela Brooks-Wilson Fiona Bruinsma Joan Brunet Bruno Buecher Ralf Butzow Saundra S Buys Trinidad Caldes Maria A Caligo Ian Campbell Rikki Cannioto Michael E Carney Terence Cescon Salina B Chan Jenny Chang-Claude Stephen Chanock Xiao Qing Chen Yoke-Eng Chiew Jocelyne Chiquette Wendy K Chung Kathleen B M Claes Thomas Conner Linda S Cook Jackie Cook Daniel W Cramer Julie M Cunningham Aimee A D'Aloisio Mary B Daly Francesca Damiola Sakaeva Dina Damirovna Agnieszka Dansonka-Mieszkowska Fanny Dao Rosemarie Davidson Anna DeFazio Capucine Delnatte Kimberly F Doheny Orland Diez Yuan Chun Ding Jennifer Anne Doherty Susan M Domchek Cecilia M Dorfling Thilo Dörk Laure Dossus Mercedes Duran Matthias Dürst Bernd Dworniczak Diana Eccles Todd Edwards Ros Eeles Ursula Eilber Bent Ejlertsen Arif B Ekici Steve Ellis Mingajeva Elvira Kevin H Eng Christoph Engel D Gareth Evans Peter A Fasching Sarah Ferguson Sandra Fert Ferrer James M Flanagan Zachary C Fogarty Renée T Fortner Florentia Fostira William D Foulkes George Fountzilas Brooke L Fridley Tara M Friebel Eitan Friedman Debra Frost Patricia A Ganz Judy Garber María J García Vanesa Garcia-Barberan Andrea Gehrig Aleksandra Gentry-Maharaj Anne-Marie Gerdes Graham G Giles Rosalind Glasspool Gord Glendon Andrew K Godwin David E Goldgar Teodora Goranova Martin Gore Mark H Greene Jacek Gronwald Stephen Gruber Eric Hahnen Christopher A Haiman Niclas Håkansson Ute Hamann Thomas V O Hansen Patricia A Harrington Holly R Harris Jan Hauke Alexander Hein Alex Henderson Michelle A T Hildebrandt Peter Hillemanns Shirley Hodgson Claus K Høgdall Estrid Høgdall Frans B L Hogervorst Helene Holland Maartje J Hooning Karen Hosking Ruea-Yea Huang Peter J Hulick Jillian Hung David J Hunter David G Huntsman Tomasz Huzarski Evgeny N Imyanitov Claudine Isaacs Edwin S Iversen Louise Izatt Angel Izquierdo Anna Jakubowska Paul James Ramunas Janavicius Mats Jernetz Allan Jensen Uffe Birk Jensen Esther M John Sharon Johnatty Michael E Jones Päivi Kannisto Beth Y Karlan Anthony Karnezis Karin Kast Catherine J Kennedy Elza Khusnutdinova Lambertus A Kiemeney Johanna I Kiiski Sung-Won Kim Susanne K Kjaer Martin Köbel Reidun K Kopperud Torben A Kruse Jolanta Kupryjanczyk Ava Kwong Yael Laitman Diether Lambrechts Nerea Larrañaga Melissa C Larson Conxi Lazaro Nhu D Le Loic Le Marchand Jong Won Lee Shashikant B Lele Arto Leminen Dominique Leroux Jenny Lester Fabienne Lesueur Douglas A Levine Dong Liang Clemens Liebrich Jenna Lilyquist Loren Lipworth Jolanta Lissowska Karen H Lu Jan Lubinński Craig Luccarini Lene Lundvall Phuong L Mai Gustavo Mendoza-Fandiño Siranoush Manoukian Leon F A G Massuger Taymaa May Sylvie Mazoyer Jessica N McAlpine Valerie McGuire John R McLaughlin Iain McNeish Hanne Meijers-Heijboer Alfons Meindl Usha Menon Arjen R Mensenkamp Melissa A Merritt Roger L Milne Gillian Mitchell Francesmary Modugno Joanna Moes-Sosnowska Melissa Moffitt Marco Montagna Kirsten B Moysich Anna Marie Mulligan Jacob Musinsky Katherine L Nathanson Lotte Nedergaard Roberta B Ness Susan L Neuhausen Heli Nevanlinna Dieter Niederacher Robert L Nussbaum Kunle Odunsi Edith Olah Olufunmilayo I Olopade Håkan Olsson Curtis Olswold David M O'Malley Kai-Ren Ong N Charlotte Onland-Moret Nicholas Orr Sandra Orsulic Ana Osorio Domenico Palli Laura Papi Tjoung-Won Park-Simon James Paul Celeste L Pearce Inge Søkilde Pedersen Petra H M Peeters Bernard Peissel Ana Peixoto Tanja Pejovic Liisa M Pelttari Jennifer B Permuth Paolo Peterlongo Lidia Pezzani Georg Pfeiler Kelly-Anne Phillips Marion Piedmonte Malcolm C Pike Anna M Piskorz Samantha R Poblete Timea Pocza Elizabeth M Poole Bruce Poppe Mary E Porteous Fabienne Prieur Darya Prokofyeva Elizabeth Pugh Miquel Angel Pujana Pascal Pujol Paolo Radice Johanna Rantala Christine Rappaport-Fuerhauser Gad Rennert Kerstin Rhiem Patricia Rice Andrea Richardson Mark Robson Gustavo C Rodriguez Cristina Rodríguez-Antona Jane Romm Matti A Rookus Mary Anne Rossing Joseph H Rothstein Anja Rudolph Ingo B Runnebaum Helga B Salvesen Dale P Sandler Minouk J Schoemaker Leigha Senter V Wendy Setiawan Gianluca Severi Priyanka Sharma Tameka Shelford Nadeem Siddiqui Lucy E Side Weiva Sieh Christian F Singer Hagay Sobol Honglin Song Melissa C Southey Amanda B Spurdle Zsofia Stadler Doris Steinemann Dominique Stoppa-Lyonnet Lara E Sucheston-Campbell Grzegorz Sukiennicki Rebecca Sutphen Christian Sutter Anthony J Swerdlow Csilla I Szabo Lukasz Szafron Yen Y Tan Jack A Taylor Muy-Kheng Tea Manuel R Teixeira Soo-Hwang Teo Kathryn L Terry Pamela J Thompson Liv Cecilie Vestrheim Thomsen Darcy L Thull Laima Tihomirova Anna V Tinker Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Alicia Tone Britton Trabert Ruth C Travis Antonia Trichopoulou Nadine Tung Shelley S Tworoger Anne M van Altena David Van Den Berg Annemarie H van der Hout Rob B van der Luijt Mattias Van Heetvelde Els Van Nieuwenhuysen Elizabeth J van Rensburg Adriaan Vanderstichele Raymonda Varon-Mateeva Ana Vega Digna Velez Edwards Ignace Vergote Robert A Vierkant Joseph Vijai Athanassios Vratimos Lisa Walker Christine Walsh Dorothea Wand Shan Wang-Gohrke Barbara Wappenschmidt Penelope M Webb Clarice R Weinberg Jeffrey N Weitzel Nicolas Wentzensen Alice S Whittemore Juul T Wijnen Lynne R Wilkens Alicja Wolk Michelle Woo Xifeng Wu Anna H Wu Hannah Yang Drakoulis Yannoukakos Argyrios Ziogas Kristin K Zorn Steven A Narod Douglas F Easton Christopher I Amos Joellen M Schildkraut Susan J Ramus Laura Ottini Marc T Goodman Sue K Park Linda E Kelemen Harvey A Risch Mads Thomassen Kenneth Offit Jacques Simard Rita Katharina Schmutzler Dennis Hazelett Alvaro N Monteiro Fergus J Couch Andrew Berchuck Georgia Chenevix-Trench Ellen L Goode Thomas A Sellers Simon A Gayther Antonis C Antoniou Paul D P Pharoah

Nat Genet 2017 May 27;49(5):680-691. Epub 2017 Mar 27.

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

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http://dx.doi.org/10.1038/ng.3826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612337PMC
May 2017

Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.

Neuromolecular Med 2017 Mar 23;19(1):161-174. Epub 2016 Sep 23.

Institute of Biopathology and Regenerative Medicine, Center for Biomedical Research, University of Granada, Health Sciences Technology Park, Avda. del Conocimiento s/n, 18016, Armilla, Granada, Spain.

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http://dx.doi.org/10.1007/s12017-016-8440-8DOI Listing
March 2017

Concentric Ring Method for generating pollen maps. Quercus as case study.

Sci Total Environ 2017 Jan 27;576:637-645. Epub 2016 Oct 27.

Department of Biodiversity and Environmental Management (Botany), University of León, Spain; Institute of Atmospheric Sciences and Climate, National Research Council, Bologna, Italy.

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http://dx.doi.org/10.1016/j.scitotenv.2016.10.121DOI Listing
January 2017

Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.

Genet Med 2016 10 25;18(10):1037-43. Epub 2016 Feb 25.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain.

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http://www.nature.com/articles/gim2015217
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http://dx.doi.org/10.1038/gim.2015.217DOI Listing
October 2016

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

Hum Mol Genet 2016 06 23;25(11):2256-2268. Epub 2016 Mar 23.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia

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http://dx.doi.org/10.1093/hmg/ddw094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5081057PMC
June 2016

No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population.

Am J Med Genet B Neuropsychiatr Genet 2015 Jan 28;168B(1):54-65. Epub 2014 Oct 28.

Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica, CIBERER, IDIS, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1002/ajmg.b.32276DOI Listing
January 2015

Annular elastolytic giant cell granuloma associated to late-onset X-linked dominant protoporphyria.

Dermatology 2013 15;227(3):238-42. Epub 2013 Oct 15.

Department of Dermatology, Faculty of Medicine, Complejo Hospitalario Universitario, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1159/000354387DOI Listing
August 2014

A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1.

Nat Genet 2014 Aug 29;46(8):891-4. Epub 2014 Jun 29.

1] Fundación Pública Galega de Medicina Xenómica, Servizo Galego de Saúde (SERGAS), Santiago de Compostela, Spain. [2] Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universidade de Santiago de Compostela (USC), Santiago de Compostela, Spain.

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http://dx.doi.org/10.1038/ng.3020DOI Listing
August 2014

RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.

Breast Cancer Res Treat 2014 Aug 3;147(1):133-43. Epub 2014 Aug 3.

Fundación Pública Galega de Medicina Xenómica-Servicio Galego de Saúde, Grupo de Medicina Xenómica-Universidade de Santiago de Compostela, Spanish Network on Rare Diseases (CIBERER), Instituto de Investigaciones Sanitarias de Santiago, Santiago de Compostela, A Coruña, Spain.

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http://dx.doi.org/10.1007/s10549-014-3078-4DOI Listing
August 2014

No association between typical European mitochondrial variation and prostate cancer risk in a Spanish cohort.

J Hum Genet 2014 Jul 5;59(7):411-4. Epub 2014 Jun 5.

Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica, CIBERER, IDIS, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1038/jhg.2014.46DOI Listing
July 2014

Indian signatures in the westernmost edge of the European Romani diaspora: new insight from mitogenomes.

PLoS One 2013 15;8(10):e75397. Epub 2013 Oct 15.

Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain ; Grupo de Investigación en Genética, Vacunas, Infecciones y Pediatría (GENVIP), Hospital Clínico Universitario and Universidade de Santiago de Compostela (USC), Galicia, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3797067PMC
June 2014

Evaluating the role of mitochondrial DNA variation to the genetic predisposition to radiation-induced toxicity.

Radiother Oncol 2014 May 17;111(2):199-205. Epub 2014 Apr 17.

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

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http://dx.doi.org/10.1016/j.radonc.2014.03.012DOI Listing
May 2014

Interaction between the transcriptional corepressor Sin3B and voltage-gated sodium channels modulates functional channel expression.

Sci Rep 2013 Sep 30;3:2809. Epub 2013 Sep 30.

Carrera de Médico Cirujano. UBIMED. FES Iztacala, UNAM. Los Reyes Iztacala. Edo, Mex. 54090 México.

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http://dx.doi.org/10.1038/srep02809DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3786298PMC
September 2013

Breast cancer genes: beyond BRCA1 and BRCA2.

Front Biosci (Landmark Ed) 2013 Jun 1;18:1358-72. Epub 2013 Jun 1.

Genetic Unit, Institute of Legal Medicine and Genomic Medicine Group, USC Faculty of Medicine, Spain.

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June 2013

Allergenicity of casein containing chalk in milk allergic schoolchildren.

Ann Allergy Asthma Immunol 2013 May 27;110(5):335-9. Epub 2013 Feb 27.

Sección de Alergia, Hospital Marina Baixa, Villajoyosa, Alicante, Spain.

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http://dx.doi.org/10.1016/j.anai.2013.02.006DOI Listing
May 2013

Multiple local and recent founder effects of TGM1 in Spanish families.

PLoS One 2012 12;7(4):e33580. Epub 2012 Apr 12.

Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0033580PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3325222PMC
December 2012

Association of a XRCC3 polymorphism and rectum mean dose with the risk of acute radio-induced gastrointestinal toxicity in prostate cancer patients.

Radiother Oncol 2012 Dec 15;105(3):321-8. Epub 2012 Oct 15.

Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.

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http://linkinghub.elsevier.com/retrieve/pii/S016781401200411
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http://dx.doi.org/10.1016/j.radonc.2012.09.013DOI Listing
December 2012

Chronic potentiation of cardiac L-type Ca(2+) channels by pirfenidone.

Cardiovasc Res 2012 Nov 30;96(2):244-54. Epub 2012 Jul 30.

Department of Biochemistry, Cinvestav-IPN, AP 14-740, México City DF 07000, México.

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http://dx.doi.org/10.1093/cvr/cvs248DOI Listing
November 2012

TGFβ1 SNPs and radio-induced toxicity in prostate cancer patients.

Radiother Oncol 2012 May 3;103(2):206-9. Epub 2012 Mar 3.

Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.

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http://linkinghub.elsevier.com/retrieve/pii/S016781401200046
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http://dx.doi.org/10.1016/j.radonc.2012.01.015DOI Listing
May 2012

Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis.

Int J Dermatol 2012 Apr;51(4):427-30

Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.

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http://doi.wiley.com/10.1111/j.1365-4632.2011.05171.x
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http://dx.doi.org/10.1111/j.1365-4632.2011.05171.xDOI Listing
April 2012

[Poorly differentiated neuroendocrine carcinoma of the colon with liver metastases].

Gastroenterol Hepatol 2012 Apr 22;35(4):251-3. Epub 2012 Mar 22.

Servicio de Aparato Digestivo, Hospital de Viladecans, Barcelona, España.

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http://dx.doi.org/10.1016/j.gastrohep.2012.01.013DOI Listing
April 2012

BRCA1 mutations do not increase prostate cancer risk: results from a meta-analysis including new data.

Prostate 2011 Dec 25;71(16):1768-79. Epub 2011 Apr 25.

Fundación Pública Galega de Medicina Xenómica-SERGAS. Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1002/pros.21394DOI Listing
December 2011

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

J Inherit Metab Dis 2011 Aug 4;34(4):929-39. Epub 2011 May 4.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, 28049 Madrid / Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.

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http://doi.wiley.com/10.1007/s10545-011-9328-2
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August 2011