Tomi Pastinen

Tomi Pastinen

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Tomi Pastinen

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Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer.

Nat Genet 2018 Oct 17;50(10):1375-1380. Epub 2018 Sep 17.

Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.

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http://dx.doi.org/10.1038/s41588-018-0211-zDOI Listing
October 2018

A hidden markov model for identifying differentially methylated sites in bisulfite sequencing data.

Biometrics 2018 Aug 31. Epub 2018 Aug 31.

Department of Decision Sciences, HEC Montreal, Quebec, Canada.

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http://doi.wiley.com/10.1111/biom.12965
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http://dx.doi.org/10.1111/biom.12965DOI Listing
August 2018

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

Authors:
Rainer Malik Ganesh Chauhan Matthew Traylor Muralidharan Sargurupremraj Yukinori Okada Aniket Mishra Loes Rutten-Jacobs Anne-Katrin Giese Sander W van der Laan Solveig Gretarsdottir Christopher D Anderson Michael Chong Hieab H H Adams Tetsuro Ago Peter Almgren Philippe Amouyel Hakan Ay Traci M Bartz Oscar R Benavente Steve Bevan Giorgio B Boncoraglio Robert D Brown Adam S Butterworth Caty Carrera Cara L Carty Daniel I Chasman Wei-Min Chen John W Cole Adolfo Correa Ioana Cotlarciuc Carlos Cruchaga John Danesh Paul I W de Bakker Anita L DeStefano Marcel den Hoed Qing Duan Stefan T Engelter Guido J Falcone Rebecca F Gottesman Raji P Grewal Vilmundur Gudnason Stefan Gustafsson Jeffrey Haessler Tamara B Harris Ahamad Hassan Aki S Havulinna Susan R Heckbert Elizabeth G Holliday George Howard Fang-Chi Hsu Hyacinth I Hyacinth M Arfan Ikram Erik Ingelsson Marguerite R Irvin Xueqiu Jian Jordi Jiménez-Conde Julie A Johnson J Wouter Jukema Masahiro Kanai Keith L Keene Brett M Kissela Dawn O Kleindorfer Charles Kooperberg Michiaki Kubo Leslie A Lange Carl D Langefeld Claudia Langenberg Lenore J Launer Jin-Moo Lee Robin Lemmens Didier Leys Cathryn M Lewis Wei-Yu Lin Arne G Lindgren Erik Lorentzen Patrik K Magnusson Jane Maguire Ani Manichaikul Patrick F McArdle James F Meschia Braxton D Mitchell Thomas H Mosley Michael A Nalls Toshiharu Ninomiya Martin J O'Donnell Bruce M Psaty Sara L Pulit Kristiina Rannikmäe Alexander P Reiner Kathryn M Rexrode Kenneth Rice Stephen S Rich Paul M Ridker Natalia S Rost Peter M Rothwell Jerome I Rotter Tatjana Rundek Ralph L Sacco Saori Sakaue Michele M Sale Veikko Salomaa Bishwa R Sapkota Reinhold Schmidt Carsten O Schmidt Ulf Schminke Pankaj Sharma Agnieszka Slowik Cathie L M Sudlow Christian Tanislav Turgut Tatlisumak Kent D Taylor Vincent N S Thijs Gudmar Thorleifsson Unnur Thorsteinsdottir Steffen Tiedt Stella Trompet Christophe Tzourio Cornelia M van Duijn Matthew Walters Nicholas J Wareham Sylvia Wassertheil-Smoller James G Wilson Kerri L Wiggins Qiong Yang Salim Yusuf Joshua C Bis Tomi Pastinen Arno Ruusalepp Eric E Schadt Simon Koplev Johan L M Björkegren Veronica Codoni Mete Civelek Nicholas L Smith David A Trégouët Ingrid E Christophersen Carolina Roselli Steven A Lubitz Patrick T Ellinor E Shyong Tai Jaspal S Kooner Norihiro Kato Jiang He Pim van der Harst Paul Elliott John C Chambers Fumihiko Takeuchi Andrew D Johnson Dharambir K Sanghera Olle Melander Christina Jern Daniel Strbian Israel Fernandez-Cadenas W T Longstreth Arndt Rolfs Jun Hata Daniel Woo Jonathan Rosand Guillaume Pare Jemma C Hopewell Danish Saleheen Kari Stefansson Bradford B Worrall Steven J Kittner Sudha Seshadri Myriam Fornage Hugh S Markus Joanna M M Howson Yoichiro Kamatani Stephanie Debette Martin Dichgans Rainer Malik Ganesh Chauhan Matthew Traylor Muralidharan Sargurupremraj Yukinori Okada Aniket Mishra Loes Rutten-Jacobs Anne-Katrin Giese Sander W van der Laan Solveig Gretarsdottir Christopher D Anderson Michael Chong Hieab H H Adams Tetsuro Ago Peter Almgren Philippe Amouyel Hakan Ay Traci M Bartz Oscar R Benavente Steve Bevan Giorgio B Boncoraglio Robert D Brown Adam S Butterworth Caty Carrera Cara L Carty Daniel I Chasman Wei-Min Chen John W Cole Adolfo Correa Ioana Cotlarciuc Carlos Cruchaga John Danesh Paul I W de Bakker Anita L DeStefano Marcel den Hoed Qing Duan Stefan T Engelter Guido J Falcone Rebecca F Gottesman Raji P Grewal Vilmundur Gudnason Stefan Gustafsson Jeffrey Haessler Tamara B Harris Ahamad Hassan Aki S Havulinna Susan R Heckbert Elizabeth G Holliday George Howard Fang-Chi Hsu Hyacinth I Hyacinth M Arfan Ikram Erik Ingelsson Marguerite R Irvin Xueqiu Jian Jordi Jiménez-Conde Julie A Johnson J Wouter Jukema Masahiro Kanai Keith L Keene Brett M Kissela Dawn O Kleindorfer Charles Kooperberg Michiaki Kubo Leslie A Lange Carl D Langefeld Claudia Langenberg Lenore J Launer Jin-Moo Lee Robin Lemmens Didier Leys Cathryn M Lewis Wei-Yu Lin Arne G Lindgren Erik Lorentzen Patrik K Magnusson Jane Maguire Ani Manichaikul Patrick F McArdle James F Meschia Braxton D Mitchell Thomas H Mosley Michael A Nalls Toshiharu Ninomiya Martin J O'Donnell Bruce M Psaty Sara L Pulit Kristiina Rannikmäe Alexander P Reiner Kathryn M Rexrode Kenneth Rice Stephen S Rich Paul M Ridker Natalia S Rost Peter M Rothwell Jerome I Rotter Tatjana Rundek Ralph L Sacco Saori Sakaue Michele M Sale Veikko Salomaa Bishwa R Sapkota Reinhold Schmidt Carsten O Schmidt Ulf Schminke Pankaj Sharma Agnieszka Slowik Cathie L M Sudlow Christian Tanislav Turgut Tatlisumak Kent D Taylor Vincent N S Thijs Gudmar Thorleifsson Unnur Thorsteinsdottir Steffen Tiedt Stella Trompet Christophe Tzourio Cornelia M van Duijn Matthew Walters Nicholas J Wareham Sylvia Wassertheil-Smoller James G Wilson Kerri L Wiggins Qiong Yang Salim Yusuf Najaf Amin Hugo S Aparicio Donna K Arnett John Attia Alexa S Beiser Claudine Berr Julie E Buring Mariana Bustamante Valeria Caso Yu-Ching Cheng Seung Hoan Choi Ayesha Chowhan Natalia Cullell Jean-François Dartigues Hossein Delavaran Pilar Delgado Marcus Dörr Gunnar Engström Ian Ford Wander S Gurpreet Anders Hamsten Laura Heitsch Atsushi Hozawa Laura Ibanez Andreea Ilinca Martin Ingelsson Motoki Iwasaki Rebecca D Jackson Katarina Jood Pekka Jousilahti Sara Kaffashian Lalit Kalra Masahiro Kamouchi Takanari Kitazono Olafur Kjartansson Manja Kloss Peter J Koudstaal Jerzy Krupinski Daniel L Labovitz Cathy C Laurie Christopher R Levi Linxin Li Lars Lind Cecilia M Lindgren Vasileios Lioutas Yong Mei Liu Oscar L Lopez Hirata Makoto Nicolas Martinez-Majander Koichi Matsuda Naoko Minegishi Joan Montaner Andrew P Morris Elena Muiño Martina Müller-Nurasyid Bo Norrving Soichi Ogishima Eugenio A Parati Leema Reddy Peddareddygari Nancy L Pedersen Joanna Pera Markus Perola Alessandro Pezzini Silvana Pileggi Raquel Rabionet Iolanda Riba-Llena Marta Ribasés Jose R Romero Jaume Roquer Anthony G Rudd Antti-Pekka Sarin Ralhan Sarju Chloe Sarnowski Makoto Sasaki Claudia L Satizabal Mamoru Satoh Naveed Sattar Norie Sawada Gerli Sibolt Ásgeir Sigurdsson Albert Smith Kenji Sobue Carolina Soriano-Tárraga Tara Stanne O Colin Stine David J Stott Konstantin Strauch Takako Takai Hideo Tanaka Kozo Tanno Alexander Teumer Liisa Tomppo Nuria P Torres-Aguila Emmanuel Touze Shoichiro Tsugane Andre G Uitterlinden Einar M Valdimarsson Sven J van der Lee Henry Völzke Kenji Wakai David Weir Stephen R Williams Charles D A Wolfe Quenna Wong Huichun Xu Taiki Yamaji Dharambir K Sanghera Olle Melander Christina Jern Daniel Strbian Israel Fernandez-Cadenas W T Longstreth Arndt Rolfs Jun Hata Daniel Woo Jonathan Rosand Guillaume Pare Jemma C Hopewell Danish Saleheen Kari Stefansson Bradford B Worrall Steven J Kittner Sudha Seshadri Myriam Fornage Hugh S Markus Joanna M M Howson Yoichiro Kamatani Stephanie Debette Martin Dichgans

Nat Genet 2018 Apr 12;50(4):524-537. Epub 2018 Mar 12.

Institute for Stroke and Dementia Research (ISD), University Hospital, LMU Munich, Munich, Germany.

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http://dx.doi.org/10.1038/s41588-018-0058-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5968830PMC
April 2018

Pioneer factor Pax7 deploys a stable enhancer repertoire for specification of cell fate.

Nat Genet 2018 Feb 22;50(2):259-269. Epub 2018 Jan 22.

Laboratoire de Génétique Moléculaire, Institut de Recherches Cliniques de Montréal (IRCM), Montreal, Québec, Canada.

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http://dx.doi.org/10.1038/s41588-017-0035-2DOI Listing
February 2018

directly modulates the core limb development program to implement hindlimb identity.

Development 2017 09 14;144(18):3325-3335. Epub 2017 Aug 14.

Institut de Recherches Cliniques de Montréal, Montréal, QC, H2W 1R7 Canada

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http://dev.biologists.org/lookup/doi/10.1242/dev.154864
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http://dx.doi.org/10.1242/dev.154864DOI Listing
September 2017

Combining omics data to identify genes associated with allergic rhinitis.

Clin Epigenetics 2017 18;9. Epub 2017 Jan 18.

Département des sciences fondamentales, Université du Québec à Chicoutimi, 555 boulevard de l'Université, Saguenay, Québec G7H 2B1 Canada.

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http://dx.doi.org/10.1186/s13148-017-0310-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5270349PMC
July 2017

Conserved expression of transposon-derived non-coding transcripts in primate stem cells.

BMC Genomics 2017 02 28;18(1):214. Epub 2017 Feb 28.

Department of Human Genetics, McGill University, Dr Penfield Avenue, Montreal, H3A 1B1, Canada.

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http://dx.doi.org/10.1186/s12864-017-3568-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331655PMC
February 2017

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

Authors:
Yosr Hamdi Penny Soucy Karoline B Kuchenbaeker Tomi Pastinen Arnaud Droit Audrey Lemaçon Julian Adlard Kristiina Aittomäki Irene L Andrulis Adalgeir Arason Norbert Arnold Banu K Arun Jacopo Azzollini Anita Bane Laure Barjhoux Daniel Barrowdale Javier Benitez Pascaline Berthet Marinus J Blok Kristie Bobolis Valérie Bonadona Bernardo Bonanni Angela R Bradbury Carole Brewer Bruno Buecher Saundra S Buys Maria A Caligo Jocelyne Chiquette Wendy K Chung Kathleen B M Claes Mary B Daly Francesca Damiola Rosemarie Davidson Miguel De la Hoya Kim De Leeneer Orland Diez Yuan Chun Ding Riccardo Dolcetti Susan M Domchek Cecilia M Dorfling Diana Eccles Ros Eeles Zakaria Einbeigi Bent Ejlertsen Christoph Engel D Gareth Evans Lidia Feliubadalo Lenka Foretova Florentia Fostira William D Foulkes George Fountzilas Eitan Friedman Debra Frost Pamela Ganschow Patricia A Ganz Judy Garber Simon A Gayther Anne-Marie Gerdes Gord Glendon Andrew K Godwin David E Goldgar Mark H Greene Jacek Gronwald Eric Hahnen Ute Hamann Thomas V O Hansen Steven Hart John L Hays Frans B L Hogervorst Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Louise Izatt Anna Jakubowska Paul James Ramunas Janavicius Uffe Birk Jensen Esther M John Vijai Joseph Walter Just Katarzyna Kaczmarek Beth Y Karlan Carolien M Kets Judy Kirk Mieke Kriege Yael Laitman Maïté Laurent Conxi Lazaro Goska Leslie Jenny Lester Fabienne Lesueur Annelie Liljegren Niklas Loman Jennifer T Loud Siranoush Manoukian Milena Mariani Sylvie Mazoyer Lesley McGuffog Hanne E J Meijers-Heijboer Alfons Meindl Austin Miller Marco Montagna Anna Marie Mulligan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Robert L Nussbaum Edith Olah Olufunmilayo I Olopade Kai-Ren Ong Jan C Oosterwijk Ana Osorio Laura Papi Sue Kyung Park Inge Sokilde Pedersen Bernard Peissel Pedro Perez Segura Paolo Peterlongo Catherine M Phelan Paolo Radice Johanna Rantala Christine Rappaport-Fuerhauser Gad Rennert Andrea Richardson Mark Robson Gustavo C Rodriguez Matti A Rookus Rita Katharina Schmutzler Nicolas Sevenet Payal D Shah Christian F Singer Thomas P Slavin Katie Snape Johanna Sokolowska Ida Marie Heeholm Sønderstrup Melissa Southey Amanda B Spurdle Zsofia Stadler Dominique Stoppa-Lyonnet Grzegorz Sukiennicki Christian Sutter Yen Tan Muy-Kheng Tea Manuel R Teixeira Alex Teulé Soo-Hwang Teo Mary Beth Terry Mads Thomassen Laima Tihomirova Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Nadine Tung Ans M W van den Ouweland Rob B van der Luijt Klaartje van Engelen Elizabeth J van Rensburg Raymonda Varon-Mateeva Barbara Wappenschmidt Juul T Wijnen Timothy Rebbeck Georgia Chenevix-Trench Kenneth Offit Fergus J Couch Silje Nord Douglas F Easton Antonis C Antoniou Jacques Simard

Breast Cancer Res Treat 2017 01 28;161(1):117-134. Epub 2016 Oct 28.

Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada.

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http://dx.doi.org/10.1007/s10549-016-4018-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222911PMC
January 2017

Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.

Oncotarget 2016 Dec;7(49):80140-80163

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

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http://dx.doi.org/10.18632/oncotarget.12818DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340257PMC
December 2016

Are Data Sharing and Privacy Protection Mutually Exclusive?

Cell 2016 11;167(5):1150-1154

Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada.

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http://dx.doi.org/10.1016/j.cell.2016.11.004DOI Listing
November 2016

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.

Cell 2016 11;167(5):1398-1414.e24

Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK; British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Addenbrooke's Hospital, Hills Road, Cambridge CB2 0QQ, UK; The National Institute for Health Research Blood and Transplant Unit (NIHR BTRU) in Donor Health and Genomics at the University of Cambridge, Strangeways Research Laboratory, University of Cambridge, Wort's Causeway, Cambridge CB1 8RN, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00928674163144
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http://dx.doi.org/10.1016/j.cell.2016.10.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5119954PMC
November 2016

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

Cell 2016 11;167(5):1415-1429.e19

Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK; Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK; The National Institute for Health Research Blood and Transplant Unit (NIHR BTRU) in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Strangeways Research Laboratory, Wort's Causeway, Cambridge CB1 8RN, UK; British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Addenbrooke's Hospital, Hills Road, Cambridge CB2 0QQ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2016.10.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5300907PMC
November 2016

The International Human Epigenome Consortium Data Portal.

Cell Syst 2016 11 15;3(5):496-499.e2. Epub 2016 Nov 15.

McGill University and Génome Québec Innovation Center, Montréal, QC H3A 0G1, Canada; Department of Human Genetics, McGill University, Montréal, QC H3A 0G1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.cels.2016.10.019DOI Listing
November 2016

DNA methylome analysis of acute lymphoblastic leukemia cells reveals stochastic de novo DNA methylation in CpG islands.

Epigenomics 2016 10 23;8(10):1367-1387. Epub 2016 Aug 23.

Department of Medical Sciences, Molecular Medicine & Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.2217/epi-2016-0052DOI Listing
October 2016

DNA methylation within melatonin receptor 1A (MTNR1A) mediates paternally transmitted genetic variant effect on asthma plus rhinitis.

J Allergy Clin Immunol 2016 09 30;138(3):748-753. Epub 2016 Mar 30.

INSERM, UMR946, Genetic Variation and Human Diseases Unit, Paris, France; Université Paris Diderot, Sorbonne Paris Cité, Institut Universitaire d'Hématologie, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.12.1341DOI Listing
September 2016

Evolving data access policy: The Canadian context.

Facets (Ott) 2016 Sep;1(1):138-147

Department of Human Genetics, Centre of Genomics and Policy, Faculty of Medicine, McGill University, Montreal, QC H3A 0G1, Canada.

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http://dx.doi.org/10.1139/facets-2016-0002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5158303PMC
September 2016

Demonstration of Autosomal Monoallelic Expression in Thyroid Tissue Assessed by Whole-Exome and Bulk RNA Sequencing.

Thyroid 2016 06 18;26(6):852-9. Epub 2016 May 18.

1 Endocrinology Service and Research Center, Sainte-Justine University Hospital Center, Department of Pediatrics, Université de Montréal , Montreal, Canada .

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http://dx.doi.org/10.1089/thy.2016.0009DOI Listing
June 2016

An evaluation of methods correcting for cell-type heterogeneity in DNA methylation studies.

Genome Biol 2016 May 3;17:84. Epub 2016 May 3.

Lady Davis Research Institute, Jewish General Hospital, 3755 Chemin de la Côte Sainte Catherine, Montréal, H3T 1E2, QC, Canada.

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http://dx.doi.org/10.1186/s13059-016-0935-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855979PMC
May 2016

funtooNorm: an R package for normalization of DNA methylation data when there are multiple cell or tissue types.

Bioinformatics 2016 Feb 24;32(4):593-5. Epub 2015 Oct 24.

Lady Davis Institute, Jewish General Hospital, Montreal, QC H3T 1E2, Canada, Department of Biochemistry, Université de Sherbrooke, QC J1K 2R1, Canada, Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montreal, QC H3A 1A2, Canada, Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada and.

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http://dx.doi.org/10.1093/bioinformatics/btv615DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743629PMC
February 2016

Exome and regulatory element sequencing of neuromyelitis optica patients.

J Neuroimmunol 2015 Dec 3;289:139-42. Epub 2015 Nov 3.

Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland; Molecular Neurology Programme, Research Program Unit, Biomedicum, University of Helsinki, Helsinki, Finland; University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.jneuroim.2015.11.002DOI Listing
December 2015

Genetic risk factors for decreased bone mineral accretion in children with asthma receiving multiple oral corticosteroid bursts.

J Allergy Clin Immunol 2015 Nov 27;136(5):1240-6.e1-8. Epub 2015 May 27.

Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Mass; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Mass. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749150057
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http://dx.doi.org/10.1016/j.jaci.2015.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4641004PMC
November 2015

High-dose folic acid supplementation alters the human sperm methylome and is influenced by the MTHFR C677T polymorphism.

Hum Mol Genet 2015 Nov 24;24(22):6301-13. Epub 2015 Aug 24.

Department of Human Genetics, Departments of Pediatrics and Pharmacology & Therapeutics, McGill University, Montreal, QC, Canada H4A 3J1, Montreal Children's Hospital and Research Institute of the McGill University Health Centre, Montreal, QC, Canada H4A 3J1,

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http://dx.doi.org/10.1093/hmg/ddv338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614702PMC
November 2015

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.

Authors:
Hou-Feng Zheng Vincenzo Forgetta Yi-Hsiang Hsu Karol Estrada Alberto Rosello-Diez Paul J Leo Chitra L Dahia Kyung Hyun Park-Min Jonathan H Tobias Charles Kooperberg Aaron Kleinman Unnur Styrkarsdottir Ching-Ti Liu Charlotta Uggla Daniel S Evans Carrie M Nielson Klaudia Walter Ulrika Pettersson-Kymmer Shane McCarthy Joel Eriksson Tony Kwan Mila Jhamai Katerina Trajanoska Yasin Memari Josine Min Jie Huang Petr Danecek Beth Wilmot Rui Li Wen-Chi Chou Lauren E Mokry Alireza Moayyeri Melina Claussnitzer Chia-Ho Cheng Warren Cheung Carolina Medina-Gómez Bing Ge Shu-Huang Chen Kwangbom Choi Ling Oei James Fraser Robert Kraaij Matthew A Hibbs Celia L Gregson Denis Paquette Albert Hofman Carl Wibom Gregory J Tranah Mhairi Marshall Brooke B Gardiner Katie Cremin Paul Auer Li Hsu Sue Ring Joyce Y Tung Gudmar Thorleifsson Anke W Enneman Natasja M van Schoor Lisette C P G M de Groot Nathalie van der Velde Beatrice Melin John P Kemp Claus Christiansen Adrian Sayers Yanhua Zhou Sophie Calderari Jeroen van Rooij Chris Carlson Ulrike Peters Soizik Berlivet Josée Dostie Andre G Uitterlinden Stephen R Williams Charles Farber Daniel Grinberg Andrea Z LaCroix Jeff Haessler Daniel I Chasman Franco Giulianini Lynda M Rose Paul M Ridker John A Eisman Tuan V Nguyen Jacqueline R Center Xavier Nogues Natalia Garcia-Giralt Lenore L Launer Vilmunder Gudnason Dan Mellström Liesbeth Vandenput Najaf Amin Cornelia M van Duijn Magnus K Karlsson Östen Ljunggren Olle Svensson Göran Hallmans François Rousseau Sylvie Giroux Johanne Bussière Pascal P Arp Fjorda Koromani Richard L Prince Joshua R Lewis Bente L Langdahl A Pernille Hermann Jens-Erik B Jensen Stephen Kaptoge Kay-Tee Khaw Jonathan Reeve Melissa M Formosa Angela Xuereb-Anastasi Kristina Åkesson Fiona E McGuigan Gaurav Garg Jose M Olmos Maria T Zarrabeitia Jose A Riancho Stuart H Ralston Nerea Alonso Xi Jiang David Goltzman Tomi Pastinen Elin Grundberg Dominique Gauguier Eric S Orwoll David Karasik George Davey-Smith Albert V Smith Kristin Siggeirsdottir Tamara B Harris M Carola Zillikens Joyce B J van Meurs Unnur Thorsteinsdottir Matthew T Maurano Nicholas J Timpson Nicole Soranzo Richard Durbin Scott G Wilson Evangelia E Ntzani Matthew A Brown Kari Stefansson David A Hinds Tim Spector L Adrienne Cupples Claes Ohlsson Celia M T Greenwood Rebecca D Jackson David W Rowe Cynthia A Loomis David M Evans Cheryl L Ackert-Bicknell Alexandra L Joyner Emma L Duncan Douglas P Kiel Fernando Rivadeneira J Brent Richards

Nature 2015 Oct 14;526(7571):112-7. Epub 2015 Sep 14.

Departments of Medicine, Human Genetics, Epidemiology and Biostatistics, McGill University, Montréal H3A 1A2, Canada.

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http://dx.doi.org/10.1038/nature14878DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755714PMC
October 2015

Global miRNA expression and correlation with mRNA levels in primary human bone cells.

RNA 2015 Aug 15;21(8):1433-43. Epub 2015 Jun 15.

Department of Medical Sciences, Uppsala University, SE-75185 Uppsala, Sweden Science for Life Laboratory, Department of Medical Sciences, Uppsala University Hospital, SE-75185 Uppsala, Sweden.

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http://dx.doi.org/10.1261/rna.049148.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4509933PMC
August 2015

Novel approaches to discovery of biomarkers in rheumatoid arthritis: comment on the article by Oswald et al.

Arthritis Rheumatol 2015 May;67(8):2276-7

Jewish General Hospital and McGill University Montreal, Quebec, Canada.

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http://doi.wiley.com/10.1002/art.39189
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http://dx.doi.org/10.1002/art.39189DOI Listing
May 2015

Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants.

Nat Commun 2015 May 29;6:7211. Epub 2015 May 29.

1] Department of Human Genetics, McGill University, 740 Docteur-Penfield Avenue, Montreal, Québec , Canada H3A 0G1 [2] McGill University and Genome Quebec Innovation Centre, 740 Docteur-Penfield Avenue, Montreal, Québec, Canada H3A 0G1.

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http://dx.doi.org/10.1038/ncomms8211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544751PMC
May 2015

Risk of re-identification of epigenetic methylation data: a more nuanced response is needed.

Clin Epigenetics 2015 18;7:45. Epub 2015 Apr 18.

McGill Epigenome Mapping Centre, Faculty of Medicine, McGill University and Genome Quebec Innovation Centre, 740 Dr. Penfield Avenue, Montreal, Quebec H3A 0G1 Canada.

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http://dx.doi.org/10.1186/s13148-015-0079-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4405848PMC
April 2015

Transient DNMT1 suppression reveals hidden heritable marks in the genome.

Nucleic Acids Res 2015 Feb 10;43(3):1485-97. Epub 2015 Jan 10.

Departments of Pediatrics, Human Genetics and Pharmacology & Therapeutics, McGill University and the Research Institute of the McGill University Health Centre at the Montreal Children's Hospital, Montreal, QC H3Z 2Z3, Canada

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http://dx.doi.org/10.1093/nar/gku1386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4330356PMC
February 2015

Long-range epigenetic regulation is conferred by genetic variation located at thousands of independent loci.

Nat Commun 2015 Feb 26;6:6326. Epub 2015 Feb 26.

1] Ontario Institute for Cancer Research, Toronto, Ontario, Canada M5G 0A3 [2] Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada M5S 1A1 [3] Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada M5S 1A1.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351585PMC
February 2015

Interrogation of allelic chromatin states in human cells by high-density ChIP-genotyping.

Epigenetics 2014 Sep 23;9(9):1238-51. Epub 2014 Jul 23.

Department of Human Genetics; McGill University; Montréal, QC Canada; McGill University and Genome Québec Innovation Centre; McGill University; Montréal, QC Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169016PMC
September 2014

Genetic implication of a novel thiamine transporter in human hypertension.

J Am Coll Cardiol 2014 Apr 5;63(15):1542-55. Epub 2014 Feb 5.

Department of Medicine, University of California at San Diego (UCSD), La Jolla, California; Veterans Affairs San Diego Healthcare System, San Diego, California; Department of Pharmacology and the Institute for Genomic Medicine, UCSD, La Jolla, California. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992204PMC
April 2014

Reply to Rational drug repositioning by medical genetics.

Nat Biotechnol 2013 Dec;31(12):1082

Computational Biology Department, Quantitative Sciences, GlaxoSmithKline, Stevenage, UK.

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http://dx.doi.org/10.1038/nbt.2769DOI Listing
December 2013

Global identification of conserved post-transcriptional regulatory programs in trypanosomatids.

Nucleic Acids Res 2013 Oct 22;41(18):8591-600. Epub 2013 Jul 22.

Institute of Parasitology, McGill University, 21111 Lakeshore Road, Ste. Anne de Bellevue, Montreal, Quebec H9X 3V9, Canada, McGill Centre for Bioinformatics, McGill University, 3649 Promenade Sir William Osler, Montreal, Quebec H3G 0B1, Canada, Department of Human Genetics, McGill University Health Centre, Montréal, Québec, Canada, McGill University and Genome Québec Innovation Centre, Montréal, Québec H3A 1A4, Canada, Department of Medical Genetics, McGill University Health Centre, Montréal, Québec, Canada and Department of Biochemistry, McGill University, McIntyre Medical Building, 3655 Promenade Sir William Osler, Montreal, Quebec H3G 1Y6, Canada.

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http://dx.doi.org/10.1093/nar/gkt647DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3794602PMC
October 2013

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.

Authors:
Fergus J Couch Xianshu Wang Lesley McGuffog Andrew Lee Curtis Olswold Karoline B Kuchenbaecker Penny Soucy Zachary Fredericksen Daniel Barrowdale Joe Dennis Mia M Gaudet Ed Dicks Matthew Kosel Sue Healey Olga M Sinilnikova Adam Lee François Bacot Daniel Vincent Frans B L Hogervorst Susan Peock Dominique Stoppa-Lyonnet Anna Jakubowska Paolo Radice Rita Katharina Schmutzler Susan M Domchek Marion Piedmonte Christian F Singer Eitan Friedman Mads Thomassen Thomas V O Hansen Susan L Neuhausen Csilla I Szabo Ignacio Blanco Mark H Greene Beth Y Karlan Judy Garber Catherine M Phelan Jeffrey N Weitzel Marco Montagna Edith Olah Irene L Andrulis Andrew K Godwin Drakoulis Yannoukakos David E Goldgar Trinidad Caldes Heli Nevanlinna Ana Osorio Mary Beth Terry Mary B Daly Elizabeth J van Rensburg Ute Hamann Susan J Ramus Amanda Ewart Toland Maria A Caligo Olufunmilayo I Olopade Nadine Tung Kathleen Claes Mary S Beattie Melissa C Southey Evgeny N Imyanitov Marc Tischkowitz Ramunas Janavicius Esther M John Ava Kwong Orland Diez Judith Balmaña Rosa B Barkardottir Banu K Arun Gad Rennert Soo-Hwang Teo Patricia A Ganz Ian Campbell Annemarie H van der Hout Carolien H M van Deurzen Caroline Seynaeve Encarna B Gómez Garcia Flora E van Leeuwen Hanne E J Meijers-Heijboer Johannes J P Gille Margreet G E M Ausems Marinus J Blok Marjolijn J L Ligtenberg Matti A Rookus Peter Devilee Senno Verhoef Theo A M van Os Juul T Wijnen Debra Frost Steve Ellis Elena Fineberg Radka Platte D Gareth Evans Louise Izatt Rosalind A Eeles Julian Adlard Diana M Eccles Jackie Cook Carole Brewer Fiona Douglas Shirley Hodgson Patrick J Morrison Lucy E Side Alan Donaldson Catherine Houghton Mark T Rogers Huw Dorkins Jacqueline Eason Helen Gregory Emma McCann Alex Murray Alain Calender Agnès Hardouin Pascaline Berthet Capucine Delnatte Catherine Nogues Christine Lasset Claude Houdayer Dominique Leroux Etienne Rouleau Fabienne Prieur Francesca Damiola Hagay Sobol Isabelle Coupier Laurence Venat-Bouvet Laurent Castera Marion Gauthier-Villars Mélanie Léoné Pascal Pujol Sylvie Mazoyer Yves-Jean Bignon Elżbieta Złowocka-Perłowska Jacek Gronwald Jan Lubinski Katarzyna Durda Katarzyna Jaworska Tomasz Huzarski Amanda B Spurdle Alessandra Viel Bernard Peissel Bernardo Bonanni Giulia Melloni Laura Ottini Laura Papi Liliana Varesco Maria Grazia Tibiletti Paolo Peterlongo Sara Volorio Siranoush Manoukian Valeria Pensotti Norbert Arnold Christoph Engel Helmut Deissler Dorothea Gadzicki Andrea Gehrig Karin Kast Kerstin Rhiem Alfons Meindl Dieter Niederacher Nina Ditsch Hansjoerg Plendl Sabine Preisler-Adams Stefanie Engert Christian Sutter Raymonda Varon-Mateeva Barbara Wappenschmidt Bernhard H F Weber Brita Arver Marie Stenmark-Askmalm Niklas Loman Richard Rosenquist Zakaria Einbeigi Katherine L Nathanson Timothy R Rebbeck Stephanie V Blank David E Cohn Gustavo C Rodriguez Laurie Small Michael Friedlander Victoria L Bae-Jump Anneliese Fink-Retter Christine Rappaport Daphne Gschwantler-Kaulich Georg Pfeiler Muy-Kheng Tea Noralane M Lindor Bella Kaufman Shani Shimon Paluch Yael Laitman Anne-Bine Skytte Anne-Marie Gerdes Inge Sokilde Pedersen Sanne Traasdahl Moeller Torben A Kruse Uffe Birk Jensen Joseph Vijai Kara Sarrel Mark Robson Noah Kauff Anna Marie Mulligan Gord Glendon Hilmi Ozcelik Bent Ejlertsen Finn C Nielsen Lars Jønson Mette K Andersen Yuan Chun Ding Linda Steele Lenka Foretova Alex Teulé Conxi Lazaro Joan Brunet Miquel Angel Pujana Phuong L Mai Jennifer T Loud Christine Walsh Jenny Lester Sandra Orsulic Steven A Narod Josef Herzog Sharon R Sand Silvia Tognazzo Simona Agata Tibor Vaszko Joellen Weaver Alexandra V Stavropoulou Saundra S Buys Atocha Romero Miguel de la Hoya Kristiina Aittomäki Taru A Muranen Mercedes Duran Wendy K Chung Adriana Lasa Cecilia M Dorfling Alexander Miron Javier Benitez Leigha Senter Dezheng Huo Salina B Chan Anna P Sokolenko Jocelyne Chiquette Laima Tihomirova Tara M Friebel Bjarni A Agnarsson Karen H Lu Flavio Lejbkowicz Paul A James Per Hall Alison M Dunning Daniel Tessier Julie Cunningham Susan L Slager Chen Wang Steven Hart Kristen Stevens Jacques Simard Tomi Pastinen Vernon S Pankratz Kenneth Offit Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou

PLoS Genet 2013 27;9(3):e1003212. Epub 2013 Mar 27.

Department of Laboratory Medicine and Pathology, and Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3609646PMC
June 2013

Large-scale association analysis identifies new risk loci for coronary artery disease.

Authors:
Panos Deloukas Stavroula Kanoni Christina Willenborg Martin Farrall Themistocles L Assimes John R Thompson Erik Ingelsson Danish Saleheen Jeanette Erdmann Benjamin A Goldstein Kathleen Stirrups Inke R König Jean-Baptiste Cazier Asa Johansson Alistair S Hall Jong-Young Lee Cristen J Willer John C Chambers Tõnu Esko Lasse Folkersen Anuj Goel Elin Grundberg Aki S Havulinna Weang K Ho Jemma C Hopewell Niclas Eriksson Marcus E Kleber Kati Kristiansson Per Lundmark Leo-Pekka Lyytikäinen Suzanne Rafelt Dmitry Shungin Rona J Strawbridge Gudmar Thorleifsson Emmi Tikkanen Natalie Van Zuydam Benjamin F Voight Lindsay L Waite Weihua Zhang Andreas Ziegler Devin Absher David Altshuler Anthony J Balmforth Inês Barroso Peter S Braund Christof Burgdorf Simone Claudi-Boehm David Cox Maria Dimitriou Ron Do Alex S F Doney NourEddine El Mokhtari Per Eriksson Krista Fischer Pierre Fontanillas Anders Franco-Cereceda Bruna Gigante Leif Groop Stefan Gustafsson Jörg Hager Göran Hallmans Bok-Ghee Han Sarah E Hunt Hyun M Kang Thomas Illig Thorsten Kessler Joshua W Knowles Genovefa Kolovou Johanna Kuusisto Claudia Langenberg Cordelia Langford Karin Leander Marja-Liisa Lokki Anders Lundmark Mark I McCarthy Christa Meisinger Olle Melander Evelin Mihailov Seraya Maouche Andrew D Morris Martina Müller-Nurasyid Kjell Nikus John F Peden N William Rayner Asif Rasheed Silke Rosinger Diana Rubin Moritz P Rumpf Arne Schäfer Mohan Sivananthan Ci Song Alexandre F R Stewart Sian-Tsung Tan Gudmundur Thorgeirsson C Ellen van der Schoot Peter J Wagner George A Wells Philipp S Wild Tsun-Po Yang Philippe Amouyel Dominique Arveiler Hanneke Basart Michael Boehnke Eric Boerwinkle Paolo Brambilla Francois Cambien Adrienne L Cupples Ulf de Faire Abbas Dehghan Patrick Diemert Stephen E Epstein Alun Evans Marco M Ferrario Jean Ferrières Dominique Gauguier Alan S Go Alison H Goodall Villi Gudnason Stanley L Hazen Hilma Holm Carlos Iribarren Yangsoo Jang Mika Kähönen Frank Kee Hyo-Soo Kim Norman Klopp Wolfgang Koenig Wolfgang Kratzer Kari Kuulasmaa Markku Laakso Reijo Laaksonen Ji-Young Lee Lars Lind Willem H Ouwehand Sarah Parish Jeong E Park Nancy L Pedersen Annette Peters Thomas Quertermous Daniel J Rader Veikko Salomaa Eric Schadt Svati H Shah Juha Sinisalo Klaus Stark Kari Stefansson David-Alexandre Trégouët Jarmo Virtamo Lars Wallentin Nicholas Wareham Martina E Zimmermann Markku S Nieminen Christian Hengstenberg Manjinder S Sandhu Tomi Pastinen Ann-Christine Syvänen G Kees Hovingh George Dedoussis Paul W Franks Terho Lehtimäki Andres Metspalu Pierre A Zalloua Agneta Siegbahn Stefan Schreiber Samuli Ripatti Stefan S Blankenberg Markus Perola Robert Clarke Bernhard O Boehm Christopher O'Donnell Muredach P Reilly Winfried März Rory Collins Sekar Kathiresan Anders Hamsten Jaspal S Kooner Unnur Thorsteinsdottir John Danesh Colin N A Palmer Robert Roberts Hugh Watkins Heribert Schunkert Nilesh J Samani

Nat Genet 2013 Jan 2;45(1):25-33. Epub 2012 Dec 2.

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http://dx.doi.org/10.1038/ng.2480DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3679547PMC
January 2013

Assessment of gene-by-sex interaction effect on bone mineral density.

J Bone Miner Res 2012 Oct;27(10):2051-64

Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Avenue CT3, Boston,MA 02118, USA.

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http://dx.doi.org/10.1002/jbmr.1679DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447125PMC
October 2012

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

Authors:
Karol Estrada Unnur Styrkarsdottir Evangelos Evangelou Yi-Hsiang Hsu Emma L Duncan Evangelia E Ntzani Ling Oei Omar M E Albagha Najaf Amin John P Kemp Daniel L Koller Guo Li Ching-Ti Liu Ryan L Minster Alireza Moayyeri Liesbeth Vandenput Dana Willner Su-Mei Xiao Laura M Yerges-Armstrong Hou-Feng Zheng Nerea Alonso Joel Eriksson Candace M Kammerer Stephen K Kaptoge Paul J Leo Gudmar Thorleifsson Scott G Wilson James F Wilson Ville Aalto Markku Alen Aaron K Aragaki Thor Aspelund Jacqueline R Center Zoe Dailiana David J Duggan Melissa Garcia Natàlia Garcia-Giralt Sylvie Giroux Göran Hallmans Lynne J Hocking Lise Bjerre Husted Karen A Jameson Rita Khusainova Ghi Su Kim Charles Kooperberg Theodora Koromila Marcin Kruk Marika Laaksonen Andrea Z Lacroix Seung Hun Lee Ping C Leung Joshua R Lewis Laura Masi Simona Mencej-Bedrac Tuan V Nguyen Xavier Nogues Millan S Patel Janez Prezelj Lynda M Rose Serena Scollen Kristin Siggeirsdottir Albert V Smith Olle Svensson Stella Trompet Olivia Trummer Natasja M van Schoor Jean Woo Kun Zhu Susana Balcells Maria Luisa Brandi Brendan M Buckley Sulin Cheng Claus Christiansen Cyrus Cooper George Dedoussis Ian Ford Morten Frost David Goltzman Jesús González-Macías Mika Kähönen Magnus Karlsson Elza Khusnutdinova Jung-Min Koh Panagoula Kollia Bente Lomholt Langdahl William D Leslie Paul Lips Östen Ljunggren Roman S Lorenc Janja Marc Dan Mellström Barbara Obermayer-Pietsch José M Olmos Ulrika Pettersson-Kymmer David M Reid José A Riancho Paul M Ridker François Rousseau P Eline Slagboom Nelson L S Tang Roser Urreizti Wim Van Hul Jorma Viikari María T Zarrabeitia Yurii S Aulchenko Martha Castano-Betancourt Elin Grundberg Lizbeth Herrera Thorvaldur Ingvarsson Hrefna Johannsdottir Tony Kwan Rui Li Robert Luben Carolina Medina-Gómez Stefan Th Palsson Sjur Reppe Jerome I Rotter Gunnar Sigurdsson Joyce B J van Meurs Dominique Verlaan Frances M K Williams Andrew R Wood Yanhua Zhou Kaare M Gautvik Tomi Pastinen Soumya Raychaudhuri Jane A Cauley Daniel I Chasman Graeme R Clark Steven R Cummings Patrick Danoy Elaine M Dennison Richard Eastell John A Eisman Vilmundur Gudnason Albert Hofman Rebecca D Jackson Graeme Jones J Wouter Jukema Kay-Tee Khaw Terho Lehtimäki Yongmei Liu Mattias Lorentzon Eugene McCloskey Braxton D Mitchell Kannabiran Nandakumar Geoffrey C Nicholson Ben A Oostra Munro Peacock Huibert A P Pols Richard L Prince Olli Raitakari Ian R Reid John Robbins Philip N Sambrook Pak Chung Sham Alan R Shuldiner Frances A Tylavsky Cornelia M van Duijn Nick J Wareham L Adrienne Cupples Michael J Econs David M Evans Tamara B Harris Annie Wai Chee Kung Bruce M Psaty Jonathan Reeve Timothy D Spector Elizabeth A Streeten M Carola Zillikens Unnur Thorsteinsdottir Claes Ohlsson David Karasik J Brent Richards Matthew A Brown Kari Stefansson André G Uitterlinden Stuart H Ralston John P A Ioannidis Douglas P Kiel Fernando Rivadeneira

Nat Genet 2012 Apr 15;44(5):491-501. Epub 2012 Apr 15.

Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.

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April 2012

Genome-wide assessment of imprinted expression in human cells.

Genome Biol 2011 21;12(3):R25. Epub 2011 Mar 21.

McGill University and Genome Quebec Innovation Centre, 740 Dr Penfield Avenue, Montreal, Quebec, H3A 1A4, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129675PMC
January 2012

Human genetics in full resolution.

Genome Biol 2011 Nov 24;12(11):309. Epub 2011 Nov 24.

Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, Montreal, Quebec, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334593PMC
November 2011

Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.

PLoS Genet 2011 Oct 6;7(10):e1002298. Epub 2011 Oct 6.

Montreal Heart Institute, Montréal, Canada.

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http://dx.doi.org/10.1371/journal.pgen.1002298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3188544PMC
October 2011

RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression.

Genome Res 2011 Apr 20;21(4):545-54. Epub 2010 Dec 20.

Department of Human Genetics, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1101/gr.111211.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3065702PMC
April 2011

The study of eQTL variations by RNA-seq: from SNPs to phenotypes.

Trends Genet 2011 Feb 29;27(2):72-9. Epub 2010 Nov 29.

Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, 740 Dr. Penfield Avenue, Rm 7210, Montreal, Quebec, H3A 1A4, Canada.

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http://dx.doi.org/10.1016/j.tig.2010.10.006DOI Listing
February 2011

The commercialization of genomic research in Canada.

Healthc Policy 2010 Nov;6(2):24-32

Assistant Professor, Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC.

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November 2010

Hundreds of variants clustered in genomic loci and biological pathways affect human height.

Authors:
Hana Lango Allen Karol Estrada Guillaume Lettre Sonja I Berndt Michael N Weedon Fernando Rivadeneira Cristen J Willer Anne U Jackson Sailaja Vedantam Soumya Raychaudhuri Teresa Ferreira Andrew R Wood Robert J Weyant Ayellet V Segrè Elizabeth K Speliotes Eleanor Wheeler Nicole Soranzo Ju-Hyun Park Jian Yang Daniel Gudbjartsson Nancy L Heard-Costa Joshua C Randall Lu Qi Albert Vernon Smith Reedik Mägi Tomi Pastinen Liming Liang Iris M Heid Jian'an Luan Gudmar Thorleifsson Thomas W Winkler Michael E Goddard Ken Sin Lo Cameron Palmer Tsegaselassie Workalemahu Yurii S Aulchenko Asa Johansson M Carola Zillikens Mary F Feitosa Tõnu Esko Toby Johnson Shamika Ketkar Peter Kraft Massimo Mangino Inga Prokopenko Devin Absher Eva Albrecht Florian Ernst Nicole L Glazer Caroline Hayward Jouke-Jan Hottenga Kevin B Jacobs Joshua W Knowles Zoltán Kutalik Keri L Monda Ozren Polasek Michael Preuss Nigel W Rayner Neil R Robertson Valgerdur Steinthorsdottir Jonathan P Tyrer Benjamin F Voight Fredrik Wiklund Jianfeng Xu Jing Hua Zhao Dale R Nyholt Niina Pellikka Markus Perola John R B Perry Ida Surakka Mari-Liis Tammesoo Elizabeth L Altmaier Najaf Amin Thor Aspelund Tushar Bhangale Gabrielle Boucher Daniel I Chasman Constance Chen Lachlan Coin Matthew N Cooper Anna L Dixon Quince Gibson Elin Grundberg Ke Hao M Juhani Junttila Lee M Kaplan Johannes Kettunen Inke R König Tony Kwan Robert W Lawrence Douglas F Levinson Mattias Lorentzon Barbara McKnight Andrew P Morris Martina Müller Julius Suh Ngwa Shaun Purcell Suzanne Rafelt Rany M Salem Erika Salvi Serena Sanna Jianxin Shi Ulla Sovio John R Thompson Michael C Turchin Liesbeth Vandenput Dominique J Verlaan Veronique Vitart Charles C White Andreas Ziegler Peter Almgren Anthony J Balmforth Harry Campbell Lorena Citterio Alessandro De Grandi Anna Dominiczak Jubao Duan Paul Elliott Roberto Elosua Johan G Eriksson Nelson B Freimer Eco J C Geus Nicola Glorioso Shen Haiqing Anna-Liisa Hartikainen Aki S Havulinna Andrew A Hicks Jennie Hui Wilmar Igl Thomas Illig Antti Jula Eero Kajantie Tuomas O Kilpeläinen Markku Koiranen Ivana Kolcic Seppo Koskinen Peter Kovacs Jaana Laitinen Jianjun Liu Marja-Liisa Lokki Ana Marusic Andrea Maschio Thomas Meitinger Antonella Mulas Guillaume Paré Alex N Parker John F Peden Astrid Petersmann Irene Pichler Kirsi H Pietiläinen Anneli Pouta Martin Ridderstråle Jerome I Rotter Jennifer G Sambrook Alan R Sanders Carsten Oliver Schmidt Juha Sinisalo Jan H Smit Heather M Stringham G Bragi Walters Elisabeth Widen Sarah H Wild Gonneke Willemsen Laura Zagato Lina Zgaga Paavo Zitting Helene Alavere Martin Farrall Wendy L McArdle Mari Nelis Marjolein J Peters Samuli Ripatti Joyce B J van Meurs Katja K Aben Kristin G Ardlie Jacques S Beckmann John P Beilby Richard N Bergman Sven Bergmann Francis S Collins Daniele Cusi Martin den Heijer Gudny Eiriksdottir Pablo V Gejman Alistair S Hall Anders Hamsten Heikki V Huikuri Carlos Iribarren Mika Kähönen Jaakko Kaprio Sekar Kathiresan Lambertus Kiemeney Thomas Kocher Lenore J Launer Terho Lehtimäki Olle Melander Tom H Mosley Arthur W Musk Markku S Nieminen Christopher J O'Donnell Claes Ohlsson Ben Oostra Lyle J Palmer Olli Raitakari Paul M Ridker John D Rioux Aila Rissanen Carlo Rivolta Heribert Schunkert Alan R Shuldiner David S Siscovick Michael Stumvoll Anke Tönjes Jaakko Tuomilehto Gert-Jan van Ommen Jorma Viikari Andrew C Heath Nicholas G Martin Grant W Montgomery Michael A Province Manfred Kayser Alice M Arnold Larry D Atwood Eric Boerwinkle Stephen J Chanock Panos Deloukas Christian Gieger Henrik Grönberg Per Hall Andrew T Hattersley Christian Hengstenberg Wolfgang Hoffman G Mark Lathrop Veikko Salomaa Stefan Schreiber Manuela Uda Dawn Waterworth Alan F Wright Themistocles L Assimes Inês Barroso Albert Hofman Karen L Mohlke Dorret I Boomsma Mark J Caulfield L Adrienne Cupples Jeanette Erdmann Caroline S Fox Vilmundur Gudnason Ulf Gyllensten Tamara B Harris Richard B Hayes Marjo-Riitta Jarvelin Vincent Mooser Patricia B Munroe Willem H Ouwehand Brenda W Penninx Peter P Pramstaller Thomas Quertermous Igor Rudan Nilesh J Samani Timothy D Spector Henry Völzke Hugh Watkins James F Wilson Leif C Groop Talin Haritunians Frank B Hu Robert C Kaplan Andres Metspalu Kari E North David Schlessinger Nicholas J Wareham David J Hunter Jeffrey R O'Connell David P Strachan H-Erich Wichmann Ingrid B Borecki Cornelia M van Duijn Eric E Schadt Unnur Thorsteinsdottir Leena Peltonen André G Uitterlinden Peter M Visscher Nilanjan Chatterjee Ruth J F Loos Michael Boehnke Mark I McCarthy Erik Ingelsson Cecilia M Lindgren Gonçalo R Abecasis Kari Stefansson Timothy M Frayling Joel N Hirschhorn

Nature 2010 Oct 29;467(7317):832-8. Epub 2010 Sep 29.

Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter EX1 2LU, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2955183PMC
October 2010

Genome-wide allele-specific analysis: insights into regulatory variation.

Authors:
Tomi Pastinen

Nat Rev Genet 2010 Aug 22;11(8):533-8. Epub 2010 Jun 22.

Department of Human Genetics, McGill University and Génome Québec Innovation Centre, 740 Dr. Penfield Avenue, Room 6202, Montréal, Québec, Canada, H3A 1A4.

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http://dx.doi.org/10.1038/nrg2815DOI Listing
August 2010

Computational analysis of whole-genome differential allelic expression data in human.

PLoS Comput Biol 2010 Jul 8;6(7):e1000849. Epub 2010 Jul 8.

School of Computer Science, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1371/journal.pcbi.1000849DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2900287PMC
July 2010

Analysis of the impact of genetic variation on human gene expression.

Methods Mol Biol 2010 ;628:321-39

Department of Human Genetics, McGill University and Génome Québec Innovation Centre, McGill University, Montréal, QC, Canada.

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http://dx.doi.org/10.1007/978-1-60327-367-1_18DOI Listing
May 2010

Cell culture-induced aberrant methylation of the imprinted IG DMR in human lymphoblastoid cell lines.

Epigenetics 2010 Jan 26;5(1):50-60. Epub 2010 Jan 26.

Department of Human Genetics, McGill University, Montreal, QC, Canada.

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January 2010

A genome-wide association study reveals variants in ARL15 that influence adiponectin levels.

PLoS Genet 2009 Dec 11;5(12):e1000768. Epub 2009 Dec 11.

Departments of Medicine, Human Genetics, and Epidemiology and Biostatistics, Jewish General Hospital, McGill University, Montréal, Québec, Canada.

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http://dx.doi.org/10.1371/journal.pgen.1000768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2781107PMC
December 2009

A cis-acting regulatory variant in the IL2RA locus.

J Immunol 2009 Oct 30;183(8):5158-62. Epub 2009 Sep 30.

Endocrine Genetics Lab, The McGill University Health Center and Montreal Children's Hospital, Montréal, Québec, Canada.

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http://dx.doi.org/10.4049/jimmunol.0901337DOI Listing
October 2009

A probabilistic approach for SNP discovery in high-throughput human resequencing data.

Genome Res 2009 Sep 15;19(9):1542-52. Epub 2009 Jul 15.

McGill Centre for Bioinformatics, McGill University, Montréal H36 0B1, Canada;

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http://dx.doi.org/10.1101/gr.092072.109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2752119PMC
September 2009