Mark Lathrop

Mark Lathrop

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Mark Lathrop

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Association of a single nucleotide polymorphism in ubxn6 gene with long term non progression phenotype in hiv-positive individuals.

Clin Microbiol Infect 2019 May 31. Epub 2019 May 31.

AIDS Immunopathology Unit, Centro Nacional de Microbiología, Instituto de Salud Carlos III, Ctra. Majadahonda-Pozuelo, Km. 2, 28220 Majadahonda, Madrid, Spain; Hospital Clínic- Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.cmi.2019.05.015DOI Listing
May 2019

Genetics of the thrombomodulin-endothelial cell protein C receptor system and the risk of early-onset ischemic stroke.

PLoS One 2018 1;13(11):e0206554. Epub 2018 Nov 1.

University of Maryland School of Medicine, Baltimore, MD, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0206554PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211695PMC
April 2019

Heterozygosity mapping for human dominant trait variants.

Hum Mutat 2019 Apr 24. Epub 2019 Apr 24.

Laboratory of Statistical Genetics, Rockefeller University, New York, New York.

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http://dx.doi.org/10.1002/humu.23765DOI Listing
April 2019

The influence of obesity-related factors in the etiology of renal cell carcinoma-A mendelian randomization study.

Authors:
Mattias Johansson Robert Carreras-Torres Ghislaine Scelo Mark P Purdue Daniela Mariosa David C Muller Nicolas J Timpson Philip C Haycock Kevin M Brown Zhaoming Wang Yuanqing Ye Jonathan N Hofmann Matthieu Foll Valerie Gaborieau Mitchell J Machiela Leandro M Colli Peng Li Jean-Guillaume Garnier Helene Blanche Anne Boland Laurie Burdette Egor Prokhortchouk Konstantin G Skryabin Meredith Yeager Sanja Radojevic-Skodric Simona Ognjanovic Lenka Foretova Ivana Holcatova Vladimir Janout Dana Mates Anush Mukeriya Stefan Rascu David Zaridze Vladimir Bencko Cezary Cybulski Eleonora Fabianova Viorel Jinga Jolanta Lissowska Jan Lubinski Marie Navratilova Peter Rudnai Simone Benhamou Geraldine Cancel-Tassin Olivier Cussenot Elisabete Weiderpass Börje Ljungberg Raviprakash Tumkur Sitaram Christel Häggström Fiona Bruinsma Susan J Jordan Gianluca Severi Ingrid Winship Kristian Hveem Lars J Vatten Tony Fletcher Susanna C Larsson Alicja Wolk Rosamonde E Banks Peter J Selby Douglas F Easton Gabriella Andreotti Laura E Beane Freeman Stella Koutros Satu Männistö Stephanie Weinstein Peter E Clark Todd L Edwards Loren Lipworth Susan M Gapstur Victoria L Stevens Hallie Carol Matthew L Freedman Mark M Pomerantz Eunyoung Cho Kathryn M Wilson J Michael Gaziano Howard D Sesso Neal D Freedman Alexander S Parker Jeanette E Eckel-Passow Wen-Yi Huang Richard J Kahnoski Brian R Lane Sabrina L Noyes David Petillo Bin Tean Teh Ulrike Peters Emily White Garnet L Anderson Lisa Johnson Juhua Luo Julie Buring I-Min Lee Wong-Ho Chow Lee E Moore Timothy Eisen Marc Henrion James Larkin Poulami Barman Bradley C Leibovich Toni K Choueiri G Mark Lathrop Jean-Francois Deleuze Marc Gunter James D McKay Xifeng Wu Richard S Houlston Stephen J Chanock Caroline Relton J Brent Richards Richard M Martin George Davey Smith Paul Brennan

PLoS Med 2019 01 3;16(1):e1002724. Epub 2019 Jan 3.

International Agency for Research on Cancer (IARC), Lyon, France.

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http://dx.doi.org/10.1371/journal.pmed.1002724DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317776PMC
January 2019

Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer's Disease.

J Alzheimers Dis 2019 ;68(3):1243-1255

Department of Genetics and CNR-MAJ, Normandie Univ, UNIROUEN, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, Rouen, France.

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http://dx.doi.org/10.3233/JAD-180940DOI Listing
January 2019

A neurobiological pathway to smoking in adolescence: TTC12-ANKK1-DRD2 variants and reward response.

Eur Neuropsychopharmacol 2018 10 11;28(10):1103-1114. Epub 2018 Aug 11.

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom; Centre for Population Neuroscience and Precision Medicine (PONS), MRC Social, Genetic and Developmental Psychiatry (SGDP) Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.euroneuro.2018.07.101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6525784PMC
October 2018

Corrigendum re "Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma" [Eur Urol 2017;72:747-54].

Authors:
Mitchell J Machiela Jonathan N Hofmann Robert Carreras-Torres Kevin M Brown Mattias Johansson Zhaoming Wang Matthieu Foll Peng Li Nathaniel Rothman Sharon A Savage Valerie Gaborieau James D McKay Yuanqing Ye Marc Henrion Fiona Bruinsma Susan Jordan Gianluca Severi Kristian Hveem Lars J Vatten Tony Fletcher Kvetoslava Koppova Susanna C Larsson Alicja Wolk Rosamonde E Banks Peter J Selby Douglas F Easton Paul Pharoah Gabriella Andreotti Laura E Beane Freeman Stella Koutros Demetrius Albanes Satu Mannisto Stephanie Weinstein Peter E Clark Todd E Edwards Loren Lipworth Susan M Gapstur Victoria L Stevens Hallie Carol Matthew L Freedman Mark M Pomerantz Eunyoung Cho Peter Kraft Mark A Preston Kathryn M Wilson J Michael Gaziano Howard S Sesso Amanda Black Neal D Freedman Wen-Yi Huang John G Anema Richard J Kahnoski Brian R Lane Sabrina L Noyes David Petillo Leandro M Colli Joshua N Sampson Celine Besse Helene Blanche Anne Boland Laurie Burdette Egor Prokhortchouk Konstantin G Skryabin Meredith Yeager Mirjana Mijuskovic Miodrag Ognjanovic Lenka Foretova Ivana Holcatova Vladimir Janout Dana Mates Anush Mukeriya Stefan Rascu David Zaridze Vladimir Bencko Cezary Cybulski Eleonora Fabianova Viorel Jinga Jolanta Lissowska Jan Lubinski Marie Navratilova Peter Rudnai Neonila Szeszenia-Dabrowska Simone Benhamou Geraldine Cancel-Tassin Olivier Cussenot H B As Bueno-de-Mesquita Federico Canzian Eric J Duell Börje Ljungberg Raviprakash T Sitaram Ulrike Peters Emily White Garnet L Anderson Lisa Johnson Juhua Luo Julie Buring I-Min Lee Wong-Ho Chow Lee E Moore Christopher Wood Timothy Eisen James Larkin Toni K Choueiri G Mark Lathrop Bin Tean Teh Jean-Francois Deleuze Xifeng Wu Richard S Houlston Paul Brennan Stephen J Chanock Ghislaine Scelo Mark P Purdue

Eur Urol 2018 09 28;74(3):e85-e86. Epub 2018 May 28.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department Health and Human Services, Bethesda, MS, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03022838183036
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http://dx.doi.org/10.1016/j.eururo.2018.05.017DOI Listing
September 2018

Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

Authors:
Joshua C Bis Xueqiu Jian Brian W Kunkle Yuning Chen Kara L Hamilton-Nelson William S Bush William J Salerno Daniel Lancour Yiyi Ma Alan E Renton Edoardo Marcora John J Farrell Yi Zhao Liming Qu Shahzad Ahmad Najaf Amin Philippe Amouyel Gary W Beecham Jennifer E Below Dominique Campion Camille Charbonnier Jaeyoon Chung Paul K Crane Carlos Cruchaga L Adrienne Cupples Jean-François Dartigues Stéphanie Debette Jean-François Deleuze Lucinda Fulton Stacey B Gabriel Emmanuelle Genin Richard A Gibbs Alison Goate Benjamin Grenier-Boley Namrata Gupta Jonathan L Haines Aki S Havulinna Seppo Helisalmi Mikko Hiltunen Daniel P Howrigan M Arfan Ikram Jaakko Kaprio Jan Konrad Amanda Kuzma Eric S Lander Mark Lathrop Terho Lehtimäki Honghuang Lin Kari Mattila Richard Mayeux Donna M Muzny Waleed Nasser Benjamin Neale Kwangsik Nho Gaël Nicolas Devanshi Patel Margaret A Pericak-Vance Markus Perola Bruce M Psaty Olivier Quenez Farid Rajabli Richard Redon Christiane Reitz Anne M Remes Veikko Salomaa Chloe Sarnowski Helena Schmidt Michael Schmidt Reinhold Schmidt Hilkka Soininen Timothy A Thornton Giuseppe Tosto Christophe Tzourio Sven J van der Lee Cornelia M van Duijn Badri Vardarajan Weixin Wang Ellen Wijsman Richard K Wilson Daniela Witten Kim C Worley Xiaoling Zhang Celine Bellenguez Jean-Charles Lambert Mitja I Kurki Aarno Palotie Mark Daly Eric Boerwinkle Kathryn L Lunetta Anita L Destefano Josée Dupuis Eden R Martin Gerard D Schellenberg Sudha Seshadri Adam C Naj Myriam Fornage Lindsay A Farrer

Mol Psychiatry 2018 Aug 14. Epub 2018 Aug 14.

Departments of Biostatistics, Boston University School of Public Health, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41380-018-0112-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375806PMC
August 2018

Exposure to Polycyclic Aromatic Hydrocarbons and Accelerated DNA Methylation Aging.

Environ Health Perspect 2018 06 14;126(6):067005. Epub 2018 Jun 14.

Key Laboratory of Environment and Health, Ministry of Education and State Key Laboratory of Environmental Health (Incubating), School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China

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http://dx.doi.org/10.1289/EHP2773DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6108582PMC
June 2018

A novel role for ciliary function in atopy: ADGRV1 and DNAH5 interactions.

J Allergy Clin Immunol 2018 May 18;141(5):1659-1667.e11. Epub 2017 Sep 18.

Genetic Variation and Human Diseases Unit, INSERM, Université Paris Diderot, Université Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1016/j.jaci.2017.06.050DOI Listing
May 2018

Molecular genetics of the transcription factor GLIS3 identifies its dual function in beta cells and neurons.

Genomics 2018 03 11;110(2):98-111. Epub 2017 Sep 11.

Sorbonne Universities, University Pierre & Marie Curie, University Paris Descartes, Sorbonne Paris Cité, INSERM UMR_S1138, Cordeliers Research Centre, Paris, France; The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom; McGill University and Genome Quebec Innovation Centre, 740 Doctor Penfield Avenue, Montreal, QC H3A 0G1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ygeno.2017.09.001DOI Listing
March 2018

Consequences of VHL Loss on Global DNA Methylome.

Sci Rep 2018 Feb 20;8(1):3313. Epub 2018 Feb 20.

Department of Laboratory Medicine and Pathobiology, University of Toronto, 661 University Avenue, Room 1510, M5G1M1, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/s41598-018-21524-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820357PMC
February 2018

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.

Authors:
Florence Demenais Patricia Margaritte-Jeannin Kathleen C Barnes William O C Cookson Janine Altmüller Wei Ang R Graham Barr Terri H Beaty Allan B Becker John Beilby Hans Bisgaard Unnur Steina Bjornsdottir Eugene Bleecker Klaus Bønnelykke Dorret I Boomsma Emmanuelle Bouzigon Christopher E Brightling Myriam Brossard Guy G Brusselle Esteban Burchard Kristin M Burkart Andrew Bush Moira Chan-Yeung Kian Fan Chung Alexessander Couto Alves John A Curtin Adnan Custovic Denise Daley Johan C de Jongste Blanca E Del-Rio-Navarro Kathleen M Donohue Liesbeth Duijts Celeste Eng Johan G Eriksson Martin Farrall Yuliya Fedorova Bjarke Feenstra Manuel A Ferreira Maxim B Freidin Zofia Gajdos Jim Gauderman Ulrike Gehring Frank Geller Jon Genuneit Sina A Gharib Frank Gilliland Raquel Granell Penelope E Graves Daniel F Gudbjartsson Tari Haahtela Susan R Heckbert Dick Heederik Joachim Heinrich Markku Heliövaara John Henderson Blanca E Himes Hiroshi Hirose Joel N Hirschhorn Albert Hofman Patrick Holt Jouke Hottenga Thomas J Hudson Jennie Hui Medea Imboden Vladimir Ivanov Vincent W V Jaddoe Alan James Christer Janson Marjo-Riitta Jarvelin Deborah Jarvis Graham Jones Ingileif Jonsdottir Pekka Jousilahti Michael Kabesch Mika Kähönen David B Kantor Alexandra S Karunas Elza Khusnutdinova Gerard H Koppelman Anita L Kozyrskyj Eskil Kreiner Michiaki Kubo Rajesh Kumar Ashish Kumar Mikko Kuokkanen Lies Lahousse Tarja Laitinen Catherine Laprise Mark Lathrop Susanne Lau Young-Ae Lee Terho Lehtimäki Sébastien Letort Albert M Levin Guo Li Liming Liang Laura R Loehr Stephanie J London Daan W Loth Ani Manichaikul Ingo Marenholz Fernando J Martinez Melanie C Matheson Rasika A Mathias Kenji Matsumoto Hamdi Mbarek Wendy L McArdle Mads Melbye Erik Melén Deborah Meyers Sven Michel Hamida Mohamdi Arthur W Musk Rachel A Myers Maartje A E Nieuwenhuis Emiko Noguchi George T O'Connor Ludmila M Ogorodova Cameron D Palmer Aarno Palotie Julie E Park Craig E Pennell Göran Pershagen Alexey Polonikov Dirkje S Postma Nicole Probst-Hensch Valery P Puzyrev Benjamin A Raby Olli T Raitakari Adaikalavan Ramasamy Stephen S Rich Colin F Robertson Isabelle Romieu Muhammad T Salam Veikko Salomaa Vivi Schlünssen Robert Scott Polina A Selivanova Torben Sigsgaard Angela Simpson Valérie Siroux Lewis J Smith Maria Solodilova Marie Standl Kari Stefansson David P Strachan Bruno H Stricker Atsushi Takahashi Philip J Thompson Gudmar Thorleifsson Unnur Thorsteinsdottir Carla M T Tiesler Dara G Torgerson Tatsuhiko Tsunoda André G Uitterlinden Ralf J P van der Valk Amaury Vaysse Sailaja Vedantam Andrea von Berg Erika von Mutius Judith M Vonk Johannes Waage Nick J Wareham Scott T Weiss Wendy B White Magnus Wickman Elisabeth Widén Gonneke Willemsen L Keoki Williams Inge M Wouters James J Yang Jing Hua Zhao Miriam F Moffatt Carole Ober Dan L Nicolae

Nat Genet 2018 01 22;50(1):42-53. Epub 2017 Dec 22.

Departments of Statistics, Human Genetics and Medicine, Section of Genetic Medicine, University of Chicago, Chicago, IL, USA.

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http://www.nature.com/articles/s41588-017-0014-7
Publisher Site
http://dx.doi.org/10.1038/s41588-017-0014-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5901974PMC
January 2018

Genomic regulation of type 2 diabetes endophenotypes: Contribution from genetic studies in the Goto-Kakizaki rat.

Biochimie 2017 Dec 24;143:56-65. Epub 2017 Aug 24.

Computational and Systems Medicine, Department of Surgery and Cancer, Faculty of Medicine, Imperial College London, SW7 2AZ, London, UK; McGill University and Genome Quebec Innovation Centre, 740 Doctor Penfield Avenue, Montreal, QC, H3A 0G1, Canada; Sorbonne Universities, University Pierre & Marie Curie, University Paris Descartes, Sorbonne Paris Cité, INSERM UMR_S 1138, Cordeliers Research Centre, 75006, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.biochi.2017.08.012DOI Listing
December 2017

Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma.

Authors:
Mitchell J Machiela Jonathan N Hofmann Robert Carreras-Torres Kevin M Brown Mattias Johansson Zhaoming Wang Matthieu Foll Peng Li Nathaniel Rothman Sharon A Savage Valerie Gaborieau James D McKay Yuanqing Ye Marc Henrion Fiona Bruinsma Susan Jordan Gianluca Severi Kristian Hveem Lars J Vatten Tony Fletcher Kvetoslava Koppova Susanna C Larsson Alicja Wolk Rosamonde E Banks Peter J Selby Douglas F Easton Paul Pharoah Gabriella Andreotti Laura E Beane Freeman Stella Koutros Demetrius Albanes Satu Mannisto Stephanie Weinstein Peter E Clark Todd E Edwards Loren Lipworth Susan M Gapstur Victoria L Stevens Hallie Carol Matthew L Freedman Mark M Pomerantz Eunyoung Cho Peter Kraft Mark A Preston Kathryn M Wilson J Michael Gaziano Howard S Sesso Amanda Black Neal D Freedman Wen-Yi Huang John G Anema Richard J Kahnoski Brian R Lane Sabrina L Noyes David Petillo Leandro M Colli Joshua N Sampson Celine Besse Helene Blanche Anne Boland Laurie Burdette Egor Prokhortchouk Konstantin G Skryabin Meredith Yeager Mirjana Mijuskovic Miodrag Ognjanovic Lenka Foretova Ivana Holcatova Vladimir Janout Dana Mates Anush Mukeriya Stefan Rascu David Zaridze Vladimir Bencko Cezary Cybulski Eleonora Fabianova Viorel Jinga Jolanta Lissowska Jan Lubinski Marie Navratilova Peter Rudnai Neonila Szeszenia-Dabrowska Simone Benhamou Geraldine Cancel-Tassin Olivier Cussenot H Bas Bueno-de-Mesquita Federico Canzian Eric J Duell Börje Ljungberg Raviprakash T Sitaram Ulrike Peters Emily White Garnet L Anderson Lisa Johnson Juhua Luo Julie Buring I-Min Lee Wong-Ho Chow Lee E Moore Christopher Wood Timothy Eisen James Larkin Toni K Choueiri G Mark Lathrop Bin Tean Teh Jean-Francois Deleuze Xifeng Wu Richard S Houlston Paul Brennan Stephen J Chanock Ghislaine Scelo Mark P Purdue

Eur Urol 2017 11 7;72(5):747-754. Epub 2017 Aug 7.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department Health and Human Services, Bethesda, MS, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03022838173063
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http://dx.doi.org/10.1016/j.eururo.2017.07.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5641242PMC
November 2017

Recovery in Patients With Dilated Cardiomyopathy With Loss-of-Function Mutations in the Titin Gene.

JAMA Cardiol 2017 06;2(6):700-702

Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada3Division of Cardiology, Department of Medicine, Royal Victoria Hospital, McGill University Health Centre, Montreal, Quebec, Canada6Department of Human Genetics, McGill University, Montreal, Quebec, Canada7Preventive and Genomic Cardiology, McGill University Health Center, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1001/jamacardio.2017.0763DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815020PMC
June 2017

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

Am J Hum Genet 2017 Jun;100(6):926-939

Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473727PMC
June 2017

Genome-wide association study identifies multiple risk loci for renal cell carcinoma.

Authors:
Ghislaine Scelo Mark P Purdue Kevin M Brown Mattias Johansson Zhaoming Wang Jeanette E Eckel-Passow Yuanqing Ye Jonathan N Hofmann Jiyeon Choi Matthieu Foll Valerie Gaborieau Mitchell J Machiela Leandro M Colli Peng Li Joshua N Sampson Behnoush Abedi-Ardekani Celine Besse Helene Blanche Anne Boland Laurie Burdette Amelie Chabrier Geoffroy Durand Florence Le Calvez-Kelm Egor Prokhortchouk Nivonirina Robinot Konstantin G Skryabin Magdalena B Wozniak Meredith Yeager Gordana Basta-Jovanovic Zoran Dzamic Lenka Foretova Ivana Holcatova Vladimir Janout Dana Mates Anush Mukeriya Stefan Rascu David Zaridze Vladimir Bencko Cezary Cybulski Eleonora Fabianova Viorel Jinga Jolanta Lissowska Jan Lubinski Marie Navratilova Peter Rudnai Neonila Szeszenia-Dabrowska Simone Benhamou Geraldine Cancel-Tassin Olivier Cussenot Laura Baglietto Heiner Boeing Kay-Tee Khaw Elisabete Weiderpass Borje Ljungberg Raviprakash T Sitaram Fiona Bruinsma Susan J Jordan Gianluca Severi Ingrid Winship Kristian Hveem Lars J Vatten Tony Fletcher Kvetoslava Koppova Susanna C Larsson Alicja Wolk Rosamonde E Banks Peter J Selby Douglas F Easton Paul Pharoah Gabriella Andreotti Laura E Beane Freeman Stella Koutros Demetrius Albanes Satu Männistö Stephanie Weinstein Peter E Clark Todd L Edwards Loren Lipworth Susan M Gapstur Victoria L Stevens Hallie Carol Matthew L Freedman Mark M Pomerantz Eunyoung Cho Peter Kraft Mark A Preston Kathryn M Wilson J Michael Gaziano Howard D Sesso Amanda Black Neal D Freedman Wen-Yi Huang John G Anema Richard J Kahnoski Brian R Lane Sabrina L Noyes David Petillo Bin Tean Teh Ulrike Peters Emily White Garnet L Anderson Lisa Johnson Juhua Luo Julie Buring I-Min Lee Wong-Ho Chow Lee E Moore Christopher Wood Timothy Eisen Marc Henrion James Larkin Poulami Barman Bradley C Leibovich Toni K Choueiri G Mark Lathrop Nathaniel Rothman Jean-Francois Deleuze James D McKay Alexander S Parker Xifeng Wu Richard S Houlston Paul Brennan Stephen J Chanock

Nat Commun 2017 06 9;8:15724. Epub 2017 Jun 9.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department Health and Human Services, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1038/ncomms15724DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5472706PMC
June 2017

Vitamin D levels and susceptibility to asthma, elevated immunoglobulin E levels, and atopic dermatitis: A Mendelian randomization study.

PLoS Med 2017 05 9;14(5):e1002294. Epub 2017 May 9.

Centre for Clinical Epidemiology, Department of Epidemiology, Lady Davis Institute for Medical Research, Jewish General Hospital, McGill University, Montréal, Canada.

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http://dx.doi.org/10.1371/journal.pmed.1002294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423551PMC
May 2017

A Replicated, Genome-Wide Significant Association of Aortic Stenosis With a Genetic Variant for Lipoprotein(a): Meta-Analysis of Published and Novel Data.

Circulation 2017 03;135(12):1181-1183

From Cancer Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, United Kingdom (B.J.C., R.C.T., J.G.); British Heart Foundation Centre of Research Excellence, University of Oxford, United Kingdom (B.J.C.); Kolling Institute, University of Sydney, Australia (S.C.); Department of Cardiology, Royal North Shore Hospital, Sydney, Australia (S.C.); Guy's and St Thomas' Hospitals, London, United Kingdom (B.P.); Department of Medicine, McGill University, Montreal, QC, Canada (J.C.E., G.T.); McGill University and Genome Quebec Innovation Centre, Montreal, QC, Canada (M.L.); Preventive and Genomic Cardiology, McGill University Health Centre and Research Institute, Montreal, QC, Canada (G.T.); and Clinical Trial Service Unit and Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, United Kingdom (R.C.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.116.026103DOI Listing
March 2017

Corrigendum: Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.

Nat Genet 2017 03;49(4):651

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http://dx.doi.org/10.1038/ng0417-651aDOI Listing
March 2017

HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families.

J Hum Genet 2016 Nov 30;61(11):959-963. Epub 2016 Jun 30.

Laboratory of Statistical Genetics, Rockefeller University, New York, NY, USA.

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http://dx.doi.org/10.1038/jhg.2016.85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411490PMC
November 2016

Precision medicine from the renal cancer genome.

Nat Rev Nephrol 2016 Nov 3;12(11):655-666. Epub 2016 Oct 3.

Department of Human Genetics, McGill University, 1205 Doctor Penfield Avenue, Montreal, QC, H3A 1B1, Canada.

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http://www.nature.com/articles/nrneph.2016.133
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http://dx.doi.org/10.1038/nrneph.2016.133DOI Listing
November 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

Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency.

J Clin Endocrinol Metab 2016 07 4;101(7):2892-904. Epub 2016 May 4.

From Sorbonne Universités, UPMC Univ Paris 6, and Inserm UMR_S938, Centre de Recherche St-Antoine, F-75012, Paris, France (L.S.-T., M.A., M.N., O.L., J.C., C.V.); Institute of Cardiometabolism and Nutrition (L.S.-T., M.A., O.L., J.C., C.V.), Groupe Hospitalier La Pitié-Salpêtrière, F-75013 Paris, France; Service d'Histologie et de Biologie Cellulaire (F.T.), Faculté de Médecine-Université de Limoges; AP-HP, Hôpital Tenon, Service de Biochimie et Hormonologie (J.C.), F-75020, Paris, France; Medical Genetics Center, Cairo, Egypt (S.M.E., E.E.); McGill University and Génome Québec Innovation Centre, Montréal, Canada (M.L.); Commissariat à l'Energie Atomique/Institut de Génomique/Centre National de Génotypage (M.D.), Evry, France; AP-HP, Hôpital St-Antoine, Laboratoire Commun de Biologie et Génétique Moléculaires, F-75012, Paris, France (O.L., C.V.); and Inserm UMR_S1087, L'Institut du Thorax (J.M.), F-44007 Nantes, France.

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http://dx.doi.org/10.1210/jc.2016-1086DOI Listing
July 2016

ABCA7 rare variants and Alzheimer disease risk.

Neurology 2016 Jun 1;86(23):2134-7. Epub 2016 Apr 1.

From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France.

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http://dx.doi.org/10.1212/WNL.0000000000002627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898320PMC
June 2016

A translational systems biology approach in both animals and humans identifies a functionally related module of accumbal genes involved in the regulation of reward processing and binge drinking in males.

J Psychiatry Neurosci 2016 04;41(3):192-202

From the Discipline of Psychiatry, University of Adelaide, Australia (Stacey); the Institute of Psychiatry, King's College, London, UK (Lourdusamy, Ruggeri, Maroteaux, Jia, Cattrell, Nymberg, Barker, Carvalho, Conrod, Desrivières, Easton, Loth, Müller, Schumann); the MRC Social, Genetic and Developmental Psychiatry (SGDP) Centre, London, UK (Lourdusamy, Ruggeri, Jia, Nymberg, Carvalho, Desrivières, Easton, Loth, Müller, Schumann); the Institut du Fer à Moulin, UMR-S 839, INSERM and Université Pierre et Marie Curie, Paris, France (Maroteaux, Mameli, Girault); the Department of Child and Adolescent Psychiatry, Central Institute of Mental Health, Faculty of Clinical Medicine Mannheim, University of Heidelberg, Germany (Banaschewski); the University of Nebraska Medical Center, Omaha, USA (Bhattacharyya, Band); the Institute of Neuroscience, Trinity College Dublin, Dublin, Ireland (Bokde, Garavan); the Institute for Systemic Neuroscience, UMC Hamburg Eppendorf, Hamburg, Germany (Büchel); the Department of Psychiatry, Université de Montreal, CHU Ste Justine Hospital, Montreal, Canada (Conrod); the Department of Addiction Medicine, Central Institute of Mental Health, Faculty of Clinical Medicine Mannheim, University of Heidelberg, Germany (Fauth-Buehler, Mann); the CIC-IBMCC, University of Salamanca - CSIC, Spain (Fernandez-Medarde, Santos); Department of Neuropsychiatry and Cognitive Psychology, Central Institute of Mental Health, Faculty of Clinical Medicine Mannheim, University of Heidelberg, Germany (Flor, Nees); the CEA, DSV, I2BM, Neurospin Bât 145 Gif-sur-Yvette, France (Frouin); the Department of Psychiatry and Psychotherapy, Campus Charité Mitte, Charité - Universitätsmedizin Berlin, Germany (Gallinat); the Departments of Psychiatry and Psychology, University of Vermont, Burlington, USA (Garavan); the Physikalisch-Technische Bundesanstalt (PTB), Braunschweig and Berlin, Germany (Ittermann); the McGill University and Genome Quebec Innovation Centre, Mon

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April 2016

Interaction between the DNAH9 gene and early smoke exposure in bronchial hyperresponsiveness.

Eur Respir J 2016 Apr 21;47(4):1072-81. Epub 2016 Jan 21.

INSERM, UMR 946, Genetic Variation and Human Diseases Unit, Paris, France Université Paris Diderot, Sorbonne Paris Cité, Institut Universitaire d'Hématologie, Paris, France.

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April 2016

Genome-Wide Association Analysis of Young-Onset Stroke Identifies a Locus on Chromosome 10q25 Near HABP2.

Stroke 2016 Feb 5;47(2):307-16. Epub 2016 Jan 5.

From the Veterans Affairs Maryland Health Care System, Baltimore, MD (Y.-C.C., S.J.K., J.W.C., B.D.M.); University of Maryland School of Medicine, Baltimore (Y.-C.C., H.X., S.J.K., J.W.C., J.R.O., B.D.M.); The University of Gothenburg, Gothenburg, Sweden (T.M.S., C.J.); University of Rostock, Rostock, Germany (A.-K.G., A. Rolfs); University of Nottingham Malaysia Campus, Selangor Darul Ehsa, Malaysia (W.K.H.); University of Cambridge, Cambridge, UK (M.T., J.D., S.B., H.S.M., S.D., D.S.); Institut Pasteur de Lille, F-59000 Lille, France (P.A.); University of Newcastle, Australia (E.G.H.); Ludwig-Maximilians-Universität, Munich, Germany (R.M., K.S., M.D.); Wellcome Trust Sanger Institute, Cambridge, UK (J.D.); Center for Non-Communicable Diseases, Karachi, Pakistan (A. Rasheed, D.S.); University of Pennsylvania (W.Z., D.S.); Basel University Hospital, Switzerland (S.E.); Heidelberg University Hospital, Germany (C.G.-G.); Centre d'Étude du Polymorphisme Humain, Paris, France (Y.K.); RIKEN Center for Integrative Medical Sciences, Yokohama, Japan (Y.K.); National Genotyping Center, Evry, France (M.L.); Genome Quebec, McGill University, Montreal, Canada (M.L.); Lille University Hospital, France (D.L., S.D.); KU Leuven - University of Leuven, Leuven, Belgium (V.T.); Vesalius Research Center, VIB, Leuven, Belgium (V.T.); University Hospitals Leuven, Leuven, Belgium (V.T.); Helsinki University Central Hospital, Helsinki, Finland (T.M.M., T.T.); Università degli Studi di Brescia, Brescia, Italy (A. Pezzini); Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy (E.A.P., G.B.B.); University of Lund, Sweden (B.N.); University of Oxford, John Radcliffe Hospital (P.M.R.); University of Edinburgh, Edinburgh, UK (C.S.); Jagiellonian University Medical College, Krakow, Poland (A.S.); Lund University, Lund, Sweden (A.L.); Skåne University Hospital, Lund, Sweden (A.L.); University of Glasgow, Glasgow, UK (M.R.W.); University of Adelaide, Australia (J.J.); Mount Sinai Hos

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http://dx.doi.org/10.1161/STROKEAHA.115.011328DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729659PMC
February 2016

Identification of lung cancer histology-specific variants applying Bayesian framework variant prioritization approaches within the TRICL and ILCCO consortia.

Carcinogenesis 2015 Nov 10;36(11):1314-26. Epub 2015 Sep 10.

Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario M5T 3L9, Canada,

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http://carcin.oxfordjournals.org/content/early/2015/09/11/ca
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http://dx.doi.org/10.1093/carcin/bgv128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4635669PMC
November 2015

Imputation of KIR Types from SNP Variation Data.

Am J Hum Genet 2015 Oct;97(4):593-607

Statistical Genetics, Murdoch Childrens Research Institute, Parkville, VIC 3052, Australia; School of Mathematics and Statistics, University of Melbourne, Parkville, VIC 3010, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.09.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596914PMC
October 2015

Exome sequencing in seven families and gene-based association studies indicate genetic heterogeneity and suggest possible candidates for fibromuscular dysplasia.

J Hypertens 2015 Sep;33(9):1802-10; discussion 1810

aINSERM, UMR970 Paris Cardiovascular Research Center (PARCC) bUniversité Paris-Descartes, PRES Sorbonne Paris Cité, Paris, France cDepartment of Health Sciences, Genomic and Bioinformatics Unit dGraduate School of Nephrology, University of Milano, Division of Nephrology, San Paolo Hospital eBiomedical Technologies, Italian National Research Council, Milan, Italy fUniversité Paris 13, Equipe de Recherche en Epidémiologie Nutritionnelle (EREN), Centre d'Epidémiologie et Statistiques Sorbonne Paris Cité, Inserm (U1153), Inra (U1125), Cnam, COMUE Sorbonne Paris Cité, Bobigny gCentre National de Génotypage, Evry hAP-HP, Department of Hypertension iAP-HP, Refferal Center for Rare Vascular Diseases, Hôpital Européen Georges Pompidou, Paris, France.

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http://dx.doi.org/10.1097/HJH.0000000000000625DOI Listing
September 2015

Leveling the Playing Field in Homozygosity Mapping Using Map Distances.

Ann Hum Genet 2015 Sep 15;79(5):366-372. Epub 2015 Jul 15.

McGill University and Genome Québec Innovation Centre, Montreal, Canada.

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http://dx.doi.org/10.1111/ahg.12125DOI Listing
September 2015

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

Nat Genet 2015 Sep 3;47(9):987-995. Epub 2015 Aug 3.

Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.

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http://dx.doi.org/10.1038/ng.3373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4557485PMC
September 2015

Neuropeptide Y genotype, central obesity, and abdominal fat distribution: the POUNDS LOST trial.

Am J Clin Nutr 2015 Aug 8;102(2):514-9. Epub 2015 Jul 8.

Nutrition, and Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA

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http://dx.doi.org/10.3945/ajcn.115.107276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515864PMC
August 2015

Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing.

Sci Rep 2015 Jul 6;5:12028. Epub 2015 Jul 6.

Institute of Psychology, Chinese Academy of Sciences, Beijing, China 100101; and Rockefeller University, New York, NY 10065, USA.

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http://dx.doi.org/10.1038/srep12028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155624PMC
July 2015

eQTL mapping identifies insertion- and deletion-specific eQTLs in multiple tissues.

Nat Commun 2015 May 8;6:6821. Epub 2015 May 8.

1] Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts 02115, USA [2] Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts 02115, USA.

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http://www.nature.com/articles/ncomms7821
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http://dx.doi.org/10.1038/ncomms7821DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929061PMC
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

Common and rare variant analysis in early-onset bipolar disorder vulnerability.

PLoS One 2014 11;9(8):e104326. Epub 2014 Aug 11.

Institut National de la Santé et de la Recherche Médicale U955, Psychiatrie Génétique, Créteil, France; Université Paris-Est, Faculté de Médecine, Créteil, France; Fondation FondaMental, Créteil, France; Assistance Publique - Hôpitaux de Paris, Hôpital Henri Mondor-Albert Chenevier, Pôle de Psychiatry, Créteil, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4128749PMC
April 2015

THEMIS is required for pathogenesis of cerebral malaria and protection against pulmonary tuberculosis.

Infect Immun 2015 Feb 1;83(2):759-68. Epub 2014 Dec 1.

Department of Human Genetics, McGill University, Montreal, QC, Canada Complex Traits Group, McGill University, Montreal, QC, Canada Department of Biochemistry, McGill University, Montreal, QC, Canada

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http://dx.doi.org/10.1128/IAI.02586-14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294254PMC
February 2015

Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.

Nat Genet 2015 Jan 24;47(1):78-83. Epub 2014 Nov 24.

1] INSERM U744, Lille, France. [2] Institut Pasteur de Lille, Lille, France. [3] Université Lille Nord de France, Lille, France.

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http://dx.doi.org/10.1038/ng.3154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5824623PMC
January 2015

CCDC88B is a novel regulator of maturation and effector functions of T cells during pathological inflammation.

J Exp Med 2014 Dec 17;211(13):2519-35. Epub 2014 Nov 17.

Department of Biochemistry, Department of Human Genetics, McGill and Genome Quebec Innovation Center, Complex Traits Group, McGill University, Montreal, Quebec H3A 0G4, Canada Department of Biochemistry, Department of Human Genetics, McGill and Genome Quebec Innovation Center, Complex Traits Group, McGill University, Montreal, Quebec H3A 0G4, Canada Department of Biochemistry, Department of Human Genetics, McGill and Genome Quebec Innovation Center, Complex Traits Group, McGill University, Montreal, Quebec H3A 0G4, Canada

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http://dx.doi.org/10.1084/jem.20140455DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267237PMC
December 2014

The effect on melanoma risk of genes previously associated with telomere length.

J Natl Cancer Inst 2014 Oct 17;106(10). Epub 2014 Sep 17.

Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Leeds Cancer Research UK Centre, University of Leeds, Leeds, UK (MMI, DTB, JCT, MHa, JRM, JANB, JHB); Oncogenomics (NKH), Genetic Epidemiology (NGM), Inflammatory Bowel Diseases Laboratory (GLRS), Cancer Control Group (DCW), Statistical Genetics (SM, MHL), and Molecular Epidemiology (GWM), QIMR Berghofer Medical Research Institute, Brisbane, Australia; INSERM, UMR-946, Genetic Variation and Human Diseases Unit, Paris, France (MB, FD); Université Paris Diderot, Sorbonne Paris Cité, Institut Universitaire d'Hématologie, Paris, France (MB, FD); Cancer Epidemiology and Services Research, Sydney School of Public Health, University of Sydney, Australia (AEC); Department of Oncology, University of Cambridge, Cambridge, UK (AMD, PDPP); Department of Surgical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX (JEL); Centre for Genetic Origins of Health and Disease, Faculty of Medicine, Dentistry and Health Sciences, University of Western Australia, Crawley, Australia (EKM, SVW); Centre for Cancer Biomarkers CCBIO (LAA) and Gade Laboratory for Pathology (AM), Department of Clinical Medicine, University of Bergen, Bergen, Norway; Department of Pathology, Haukeland University Hospital, Bergen, Norway (LAA); Department of Pathology, Molecular Pathology (PAA) and Department of Dermatology (PH), Oslo University Hospital, Rikshospitalet, Oslo, Norway; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin, Service de Dermatologie, Université Paris Descartes, Paris, France (MFA); Department of Dermatology (EA) and Oncogenics Unit (EA, EF), Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv, Israel (EA); Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy (GBS, EFPG); Laboratory of Genetics of Rare Hereditary Cancers, San Martino-IST Research Hospital, Genoa, Italy (GBS, EFPG); Division of Cancer Epidemiology and Gene

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https://genepi.qimr.edu.au/contents/p/staff/IlesMM_JNCI_EPUB
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http://jnci.oxfordjournals.org/cgi/doi/10.1093/jnci/dju267
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4196080PMC
October 2014

Variation in genomic landscape of clear cell renal cell carcinoma across Europe.

Nat Commun 2014 Oct 29;5:5135. Epub 2014 Oct 29.

1] Department of Human Genetics, McGill University, 1205 Dr Penfield Avenue, Montreal, Quebec, Canada H3A 1B1 [2] Fondation Jean Dausset - Centre d'Etude du Polymorphisme Humain, 27 rue Juliette Dodu, 75010 Paris, France [3] Centre National de Génotypage, CEA - Institute de Génomique, 2 rue Gaston Crémieux, 91000 Evry, France.

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October 2014

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

PLoS Genet 2014 Sep 4;10(9):e1004580. Epub 2014 Sep 4.

Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France; CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France; University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France; FondaMental Foundation, Créteil, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154644PMC
September 2014