Stephane Bézieau

Stephane Bézieau

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Stephane Bézieau

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Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.

Hum Genet 2019 Jul;138(7):789-791

Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, 98109, USA.

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http://dx.doi.org/10.1007/s00439-019-02030-8DOI Listing
July 2019

FAM111B Mutation Is Associated With Pancreatic Cancer Predisposition.

Pancreas 2019 May/Jun;48(5):e41-e42

Service de Génétique Médicale CHU de Nantes Nantes, France L'institut du Thorax, INSERM, CNRS, UNIV Nantes Nantes, France Service Hématologie-Oncologie Centre Hospitalier du Pays d'Aix Aix-en-Provence, France Service de Neurologie Centre de Référence des Maladies Neuromusculaires PACA-Réunion-Rhône Alpes FILNEMUS CHU Hôpital de la Timone Marseille, France Clinique Dermatologique CHU de Nantes Nantes, France Service de Génétique Médicale CHU de Nantes Nantes, France L'institut du Thorax, INSERM, CNRS UNIV Nantes Nantes, France.

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http://dx.doi.org/10.1097/MPA.0000000000001303DOI Listing
May 2019

Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.

Hum Genet 2019 Apr 28;138(4):307-326. Epub 2019 Feb 28.

Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, 98109, USA.

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http://dx.doi.org/10.1007/s00439-019-01989-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483948PMC
April 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

Authors:
Stephanie L Schmit Christopher K Edlund Fredrick R Schumacher Jian Gong Tabitha A Harrison Jeroen R Huyghe Chenxu Qu Marilena Melas David J Van Den Berg Hansong Wang Stephanie Tring Sarah J Plummer Demetrius Albanes M Henar Alonso Christopher I Amos Kristen Anton Aaron K Aragaki Volker Arndt Elizabeth L Barry Sonja I Berndt Stéphane Bezieau Stephanie Bien Amanda Bloomer Juergen Boehm Marie-Christine Boutron-Ruault Hermann Brenner Stefanie Brezina Daniel D Buchanan Katja Butterbach Bette J Caan Peter T Campbell Christopher S Carlson Jose E Castelao Andrew T Chan Jenny Chang-Claude Stephen J Chanock Iona Cheng Ya-Wen Cheng Lee Soo Chin James M Church Timothy Church Gerhard A Coetzee Michelle Cotterchio Marcia Cruz Correa Keith R Curtis David Duggan Douglas F Easton Dallas English Edith J M Feskens Rocky Fischer Liesel M FitzGerald Barbara K Fortini Lars G Fritsche Charles S Fuchs Manuela Gago-Dominguez Manish Gala Steven J Gallinger W James Gauderman Graham G Giles Edward L Giovannucci Stephanie M Gogarten Clicerio Gonzalez-Villalpando Elena M Gonzalez-Villalpando William M Grady Joel K Greenson Andrea Gsur Marc Gunter Christopher A Haiman Jochen Hampe Sophia Harlid John F Harju Richard B Hayes Philipp Hofer Michael Hoffmeister John L Hopper Shu-Chen Huang Jose Maria Huerta Thomas J Hudson David J Hunter Gregory E Idos Motoki Iwasaki Rebecca D Jackson Eric J Jacobs Sun Ha Jee Mark A Jenkins Wei-Hua Jia Shuo Jiao Amit D Joshi Laurence N Kolonel Suminori Kono Charles Kooperberg Vittorio Krogh Tilman Kuehn Sébastien Küry Andrea LaCroix Cecelia A Laurie Flavio Lejbkowicz Mathieu Lemire Heinz-Josef Lenz David Levine Christopher I Li Li Li Wolfgang Lieb Yi Lin Noralane M Lindor Yun-Ru Liu Fotios Loupakis Yingchang Lu Frank Luh Jing Ma Christoph Mancao Frank J Manion Sanford D Markowitz Vicente Martin Koichi Matsuda Keitaro Matsuo Kevin J McDonnell Caroline E McNeil Roger Milne Antonio J Molina Bhramar Mukherjee Neil Murphy Polly A Newcomb Kenneth Offit Hanane Omichessan Domenico Palli Jesus P Paredes Cotoré Julyann Pérez-Mayoral Paul D Pharoah John D Potter Conghui Qu Leon Raskin Gad Rennert Hedy S Rennert Bridget M Riggs Clemens Schafmayer Robert E Schoen Thomas A Sellers Daniela Seminara Gianluca Severi Wei Shi David Shibata Xiao-Ou Shu Erin M Siegel Martha L Slattery Melissa Southey Zsofia K Stadler Mariana C Stern Sebastian Stintzing Darin Taverna Stephen N Thibodeau Duncan C Thomas Antonia Trichopoulou Shoichiro Tsugane Cornelia M Ulrich Franzel J B van Duijnhoven Bethany van Guelpan Joseph Vijai Jarmo Virtamo Stephanie J Weinstein Emily White Aung Ko Win Alicja Wolk Michael Woods Anna H Wu Kana Wu Yong-Bing Xiang Yun Yen Brent W Zanke Yi-Xin Zeng Ben Zhang Niha Zubair Sun-Seog Kweon Jane C Figueiredo Wei Zheng Loic Le Marchand Annika Lindblom Victor Moreno Ulrike Peters Graham Casey Li Hsu David V Conti Stephen B Gruber

J Natl Cancer Inst 2019 Feb;111(2):146-157

Department of Preventive Medicine, USC Norris Comprehensive Cancer Center.

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http://dx.doi.org/10.1093/jnci/djy099DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555904PMC
February 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 Feb 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
February 2019

Discovery of common and rare genetic risk variants for colorectal cancer.

Authors:
Jeroen R Huyghe Stephanie A Bien Tabitha A Harrison Hyun Min Kang Sai Chen Stephanie L Schmit David V Conti Conghui Qu Jihyoun Jeon Christopher K Edlund Peyton Greenside Michael Wainberg Fredrick R Schumacher Joshua D Smith David M Levine Sarah C Nelson Nasa A Sinnott-Armstrong Demetrius Albanes M Henar Alonso Kristin Anderson Coral Arnau-Collell Volker Arndt Christina Bamia Barbara L Banbury John A Baron Sonja I Berndt Stéphane Bézieau D Timothy Bishop Juergen Boehm Heiner Boeing Hermann Brenner Stefanie Brezina Stephan Buch Daniel D Buchanan Andrea Burnett-Hartman Katja Butterbach Bette J Caan Peter T Campbell Christopher S Carlson Sergi Castellví-Bel Andrew T Chan Jenny Chang-Claude Stephen J Chanock Maria-Dolores Chirlaque Sang Hee Cho Charles M Connolly Amanda J Cross Katarina Cuk Keith R Curtis Albert de la Chapelle Kimberly F Doheny David Duggan Douglas F Easton Sjoerd G Elias Faye Elliott Dallas R English Edith J M Feskens Jane C Figueiredo Rocky Fischer Liesel M FitzGerald David Forman Manish Gala Steven Gallinger W James Gauderman Graham G Giles Elizabeth Gillanders Jian Gong Phyllis J Goodman William M Grady John S Grove Andrea Gsur Marc J Gunter Robert W Haile Jochen Hampe Heather Hampel Sophia Harlid Richard B Hayes Philipp Hofer Michael Hoffmeister John L Hopper Wan-Ling Hsu Wen-Yi Huang Thomas J Hudson David J Hunter Gemma Ibañez-Sanz Gregory E Idos Roxann Ingersoll Rebecca D Jackson Eric J Jacobs Mark A Jenkins Amit D Joshi Corinne E Joshu Temitope O Keku Timothy J Key Hyeong Rok Kim Emiko Kobayashi Laurence N Kolonel Charles Kooperberg Tilman Kühn Sébastien Küry Sun-Seog Kweon Susanna C Larsson Cecelia A Laurie Loic Le Marchand Suzanne M Leal Soo Chin Lee Flavio Lejbkowicz Mathieu Lemire Christopher I Li Li Li Wolfgang Lieb Yi Lin Annika Lindblom Noralane M Lindor Hua Ling Tin L Louie Satu Männistö Sanford D Markowitz Vicente Martín Giovanna Masala Caroline E McNeil Marilena Melas Roger L Milne Lorena Moreno Neil Murphy Robin Myte Alessio Naccarati Polly A Newcomb Kenneth Offit Shuji Ogino N Charlotte Onland-Moret Barbara Pardini Patrick S Parfrey Rachel Pearlman Vittorio Perduca Paul D P Pharoah Mila Pinchev Elizabeth A Platz Ross L Prentice Elizabeth Pugh Leon Raskin Gad Rennert Hedy S Rennert Elio Riboli Miguel Rodríguez-Barranco Jane Romm Lori C Sakoda Clemens Schafmayer Robert E Schoen Daniela Seminara Mitul Shah Tameka Shelford Min-Ho Shin Katerina Shulman Sabina Sieri Martha L Slattery Melissa C Southey Zsofia K Stadler Christa Stegmaier Yu-Ru Su Catherine M Tangen Stephen N Thibodeau Duncan C Thomas Sushma S Thomas Amanda E Toland Antonia Trichopoulou Cornelia M Ulrich David J Van Den Berg Franzel J B van Duijnhoven Bethany Van Guelpen Henk van Kranen Joseph Vijai Kala Visvanathan Pavel Vodicka Ludmila Vodickova Veronika Vymetalkova Korbinian Weigl Stephanie J Weinstein Emily White Aung Ko Win C Roland Wolf Alicja Wolk Michael O Woods Anna H Wu Syed H Zaidi Brent W Zanke Qing Zhang Wei Zheng Peter C Scacheri John D Potter Michael C Bassik Anshul Kundaje Graham Casey Victor Moreno Goncalo R Abecasis Deborah A Nickerson Stephen B Gruber Li Hsu Ulrike Peters

Nat Genet 2019 01 3;51(1):76-87. Epub 2018 Dec 3.

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.

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http://www.nature.com/articles/s41588-018-0286-6
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http://dx.doi.org/10.1038/s41588-018-0286-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6358437PMC
January 2019

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

A new mutation of ANO6 in two familial cases of Scott syndrome.

Br J Haematol 2018 03 23;180(5):750-752. Epub 2016 Nov 23.

Service d'Hématologie biologique, CHU de Nantes, Nantes, France.

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http://dx.doi.org/10.1111/bjh.14439DOI Listing
March 2018

Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis.

Mol Ther 2018 01 19;26(1):256-268. Epub 2017 Sep 19.

Ophthalmology Department, University Hospital Centre (CHU) de Nantes, Nantes, France; INSERM UMR 1089, University of Nantes, CHU de Nantes, Nantes France.

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http://dx.doi.org/10.1016/j.ymthe.2017.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763029PMC
January 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Mapping clinicopathological entities within colorectal mucinous adenocarcinomas: a hierarchical clustering approach.

Mod Pathol 2017 08 21;30(8):1177-1189. Epub 2017 Apr 21.

Department of Pathology, Hôtel Dieu, Centre Hospitalier Universitaire of Nantes, Nantes, France.

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http://dx.doi.org/10.1038/modpathol.2017.18DOI Listing
August 2017

Novel KCNB1 mutation associated with non-syndromic intellectual disability.

J Hum Genet 2017 Apr 8;62(5):569-573. Epub 2016 Dec 8.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1038/jhg.2016.154DOI Listing
April 2017

Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case series.

J Med Case Rep 2017 Mar 24;11(1):78. Epub 2017 Mar 24.

Service de Génétique Médicale, Hôpital Hôtel-Dieu, CHU de Nantes, 1 place Alexis Ricordeau, 44093, Nantes, France.

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http://dx.doi.org/10.1186/s13256-017-1231-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364588PMC
March 2017

Gene panel sequencing in idiopathic erythrocytosis.

Haematologica 2017 01;102(1):e30

Ecole Pratique des Hautes Etudes (EPHE), PSL Research University, France.

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http://dx.doi.org/10.3324/haematol.2016.158337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210256PMC
January 2017

Telomere structure and maintenance gene variants and risk of five cancer types.

Int J Cancer 2016 Dec 8;139(12):2655-2670. Epub 2016 Sep 8.

Department of Epidemiology, Geisel School of Medicine at Dartmouth, Lebanon, NH.

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http://dx.doi.org/10.1002/ijc.30288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198774PMC
December 2016

Clinical, histological, and molecular risk factors for cancer recurrence in patients with stage II colon cancer.

Eur J Gastroenterol Hepatol 2016 Dec;28(12):1394-1399

aDepartment of Hepatogastroenterology, Digestive Oncology Unit, University Hospital, Nantes bDepartment of Hepatogastroenterology, University Hospital, Tours cIntegrated Center for Oncology, Angers dDepartment of Pathology & EA-4273 BIOMETADYS, University Hospital, Nantes eDepartment of Digestive Surgery, University Hospital, Nantes fInstitute of Histopathology, Nantes gDepartment of Pathology, University Hospital, Tours hDepartment of Medical Genetics, University Hospital, Nantes iIntegrated Center for Oncology, Saint Herblain, France.

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http://dx.doi.org/10.1097/MEG.0000000000000725DOI Listing
December 2016

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

Authors:
Gordon Fehringer Peter Kraft Paul D Pharoah Rosalind A Eeles Nilanjan Chatterjee Fredrick R Schumacher Joellen M Schildkraut Sara Lindström Paul Brennan Heike Bickeböller Richard S Houlston Maria Teresa Landi Neil Caporaso Angela Risch Ali Amin Al Olama Sonja I Berndt Edward L Giovannucci Henrik Grönberg Zsofia Kote-Jarai Jing Ma Kenneth Muir Meir J Stampfer Victoria L Stevens Fredrik Wiklund Walter C Willett Ellen L Goode Jennifer B Permuth Harvey A Risch Brett M Reid Stephane Bezieau Hermann Brenner Andrew T Chan Jenny Chang-Claude Thomas J Hudson Jonathan K Kocarnik Polly A Newcomb Robert E Schoen Martha L Slattery Emily White Muriel A Adank Habibul Ahsan Kristiina Aittomäki Laura Baglietto Carl Blomquist Federico Canzian Kamila Czene Isabel Dos-Santos-Silva A Heather Eliassen Jonine D Figueroa Dieter Flesch-Janys Olivia Fletcher Montserrat Garcia-Closas Mia M Gaudet Nichola Johnson Per Hall Aditi Hazra Rebecca Hein Albert Hofman John L Hopper Astrid Irwanto Mattias Johansson Rudolf Kaaks Muhammad G Kibriya Peter Lichtner Jianjun Liu Eiliv Lund Enes Makalic Alfons Meindl Bertram Müller-Myhsok Taru A Muranen Heli Nevanlinna Petra H Peeters Julian Peto Ross L Prentice Nazneen Rahman Maria Jose Sanchez Daniel F Schmidt Rita K Schmutzler Melissa C Southey Rulla Tamimi Ruth C Travis Clare Turnbull Andre G Uitterlinden Zhaoming Wang Alice S Whittemore Xiaohong R Yang Wei Zheng Daniel D Buchanan Graham Casey David V Conti Christopher K Edlund Steven Gallinger Robert W Haile Mark Jenkins Loïc Le Marchand Li Li Noralene M Lindor Stephanie L Schmit Stephen N Thibodeau Michael O Woods Thorunn Rafnar Julius Gudmundsson Simon N Stacey Kari Stefansson Patrick Sulem Y Ann Chen Jonathan P Tyrer David C Christiani Yongyue Wei Hongbing Shen Zhibin Hu Xiao-Ou Shu Kouya Shiraishi Atsushi Takahashi Yohan Bossé Ma'en Obeidat David Nickle Wim Timens Matthew L Freedman Qiyuan Li Daniela Seminara Stephen J Chanock Jian Gong Ulrike Peters Stephen B Gruber Christopher I Amos Thomas A Sellers Douglas F Easton David J Hunter Christopher A Haiman Brian E Henderson Rayjean J Hung

Cancer Res 2016 09 20;76(17):5103-14. Epub 2016 Apr 20.

Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Canada.

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http://dx.doi.org/10.1158/0008-5472.CAN-15-2980DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010493PMC
September 2016

Clinical utility gene card for: Biotinidase deficiency-update 2015.

Eur J Hum Genet 2016 07 18;24(7). Epub 2015 Nov 18.

Department of Research Administration, Henry Ford Hospital, Detroit, Michigan, USA.

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http://dx.doi.org/10.1038/ejhg.2015.246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070897PMC
July 2016

Clinical utility gene card for: acrodermatitis enteropathica - update 2015.

Eur J Hum Genet 2016 May 7;24(5). Epub 2015 Oct 7.

CHU de Nantes, Service de Génétique Médicale, Nantes, France.

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http://dx.doi.org/10.1038/ejhg.2015.203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930100PMC
May 2016

A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

Medicine (Baltimore) 2016 Mar;95(11):e3038

From the Service d'Hématologie biologique (AV, NI-B), Hôpital Lariboisière, Assistance Publique-Hôpitaux de Paris, Université Paris 7, Paris; Service de Génétique médicale (PB, MG, SB), Hôpital Hôtel-Dieu, CHU de Nantes, Nantes; Inserm UMR_S1176 (EF, CVD), Université Paris-Sud, Le Kremlin Bicêtre; Service d'Hématologie biologique (CC, CZ, SS, JG), Hôpital cardiologique, CHRU de Lille, Lille; Service d'Hématologie biologique (CT, MT), Hôpital Hôtel-Dieu, CHU de Nantes, Nantes; Service d'Hématologie biologique et Centre Régional de Traitement de l'Hémophilie (MD, RD), Hôpital de Bicêtre, Assistance Publique-Hôpitaux de Paris, Université Paris-Sud, Le Kremlin-Bicêtre; and Service d'Hématologie biologique (AB-D), Hôpital de la Côte de Nacre, CHU de Caen, Caen, France.

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http://dx.doi.org/10.1097/MD.0000000000003038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839904PMC
March 2016

Powerful Set-Based Gene-Environment Interaction Testing Framework for Complex Diseases.

Genet Epidemiol 2015 Dec 10;39(8):609-18. Epub 2015 Jun 10.

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America.

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http://dx.doi.org/10.1002/gepi.21908DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4675704PMC
December 2015

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Orphanet J Rare Dis 2015 Oct 15;10:135. Epub 2015 Oct 15.

CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France.

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http://link.springer.com/content/pdf/10.1186%2Fs13023-015-03
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http://www.ojrd.com/content/10/1/135
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http://dx.doi.org/10.1186/s13023-015-0352-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608180PMC
October 2015

Corrigendum: genome-wide association study of colorectal cancer identifies six new susceptibility loci.

Authors:
Fredrick R Schumacher Stephanie L Schmit Shuo Jiao Christopher K Edlund Hansong Wang Ben Zhang Li Hsu Shu-Chen Huang Christopher P Fischer John F Harju Gregory E Idos Flavio Lejbkowicz Frank J Manion Kevin McDonnell Caroline E McNeil Marilena Melas Hedy S Rennert Wei Shi Duncan C Thomas David J Van Den Berg Carolyn M Hutter Aaron K Aragaki Katja Butterbach Bette J Caan Christopher S Carlson Stephen J Chanock Keith R Curtis Charles S Fuchs Manish Gala Edward L Giovannucci Stephanie M Gogarten Richard B Hayes Brian Henderson David J Hunter Rebecca D Jackson Laurence N Kolonel Charles Kooperberg Sébastien Küry Andrea LaCroix Cathy C Laurie Cecelia A Laurie Mathieu Lemire David Levine Jing Ma Karen W Makar Conghui Qu Darin Taverna Cornelia M Ulrich Kana Wu Suminori Kono Dee W West Sonja I Berndt Stephane Bezieau Hermann Brenner Peter T Campbell Andrew T Chan Jenny Chang-Claude Gerhard A Coetzee David V Conti David Duggan Jane C Figueiredo Barbara K Fortini Steven J Gallinger W James Gauderman Graham Giles Roger Green Robert Haile Tabitha A Harrison Michael Hoffmeister John L Hopper Thomas J Hudson Eric Jacobs Motoki Iwasaki Sun Ha Jee Mark Jenkins Wei-Hua Jia Amit Joshi Li Li Noralene M Lindor Keitaro Matsuo Victor Moreno Bhramar Mukherjee Polly A Newcomb John D Potter Leon Raskin Gad Rennert Stephanie Rosse Gianluca Severi Robert E Schoen Daniela Seminara Xiao-Ou Shu Martha L Slattery Shoichiro Tsugane Emily White Yong-Bing Xiang Brent W Zanke Wei Zheng Loic Le Marchand Graham Casey Stephen B Gruber Ulrike Peters

Nat Commun 2015 Oct 26;6:8739. Epub 2015 Oct 26.

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http://dx.doi.org/10.1038/ncomms9739DOI Listing
October 2015

Identification of a common variant with potential pleiotropic effect on risk of inflammatory bowel disease and colorectal cancer.

Carcinogenesis 2015 Sep 12;36(9):999-1007. Epub 2015 Jun 12.

Gastrointestinal Unit, Massachusetts General Hospital, Boston, MA, USA, Department of Epidemiology, Indiana University School of Public Health, Indianapolis, IN, USA,

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http://carcin.oxfordjournals.org/content/early/2015/07/07/ca
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http://www.carcin.oxfordjournals.org/lookup/doi/10.1093/carc
Publisher Site
http://dx.doi.org/10.1093/carcin/bgv086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573660PMC
September 2015

Genome-wide association study of colorectal cancer identifies six new susceptibility loci.

Authors:
Fredrick R Schumacher Stephanie L Schmit Shuo Jiao Christopher K Edlund Hansong Wang Ben Zhang Li Hsu Shu-Chen Huang Christopher P Fischer John F Harju Gregory E Idos Flavio Lejbkowicz Frank J Manion Kevin McDonnell Caroline E McNeil Marilena Melas Hedy S Rennert Wei Shi Duncan C Thomas David J Van Den Berg Carolyn M Hutter Aaron K Aragaki Katja Butterbach Bette J Caan Christopher S Carlson Stephen J Chanock Keith R Curtis Charles S Fuchs Manish Gala Edward L Giovannucci Stephanie M Gogarten Richard B Hayes Brian Henderson David J Hunter Rebecca D Jackson Laurence N Kolonel Charles Kooperberg Sébastien Küry Andrea LaCroix Cathy C Laurie Cecelia A Laurie Mathieu Lemire David Levine Jing Ma Karen W Makar Conghui Qu Darin Taverna Cornelia M Ulrich Kana Wu Suminori Kono Dee W West Sonja I Berndt Stéphane Bezieau Hermann Brenner Peter T Campbell Andrew T Chan Jenny Chang-Claude Gerhard A Coetzee David V Conti David Duggan Jane C Figueiredo Barbara K Fortini Steven J Gallinger W James Gauderman Graham Giles Roger Green Robert Haile Tabitha A Harrison Michael Hoffmeister John L Hopper Thomas J Hudson Eric Jacobs Motoki Iwasaki Sun Ha Jee Mark Jenkins Wei-Hua Jia Amit Joshi Li Li Noralene M Lindor Keitaro Matsuo Victor Moreno Bhramar Mukherjee Polly A Newcomb John D Potter Leon Raskin Gad Rennert Stephanie Rosse Gianluca Severi Robert E Schoen Daniela Seminara Xiao-Ou Shu Martha L Slattery Shoichiro Tsugane Emily White Yong-Bing Xiang Brent W Zanke Wei Zheng Loic Le Marchand Graham Casey Stephen B Gruber Ulrike Peters

Nat Commun 2015 Jul 7;6:7138. Epub 2015 Jul 7.

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98124, USA.

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http://dx.doi.org/10.1038/ncomms8138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4967357PMC
July 2015

Acute cytotoxicity of MIRA-1/NSC19630, a mutant p53-reactivating small molecule, against human normal and cancer cells via a caspase-9-dependent apoptosis.

Cancer Lett 2015 Apr 21;359(2):211-7. Epub 2015 Jan 21.

EA4273 Biometadys, Faculté de Médecine, Université de Nantes, France; Service d'Anatomie et Cytologie Pathologiques, CHU de Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.canlet.2015.01.014DOI Listing
April 2015

Clinical zinc deficiency as early presentation of Wilson disease.

J Pediatr Gastroenterol Nutr 2015 Apr;60(4):457-9

*Pediatric Gastroenterology and Hepatology Department †Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium ‡CHU Nantes, Service de Génétique Médicale, Nantes, Cedex 1 §Laboratoire LABCATAL, Montrouge, France.

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http://dx.doi.org/10.1097/MPG.0000000000000628DOI Listing
April 2015

Mendelian randomization study of height and risk of colorectal cancer.

Int J Epidemiol 2015 Apr 20;44(2):662-72. Epub 2015 May 20.

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA, Department of Medicine and Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX, USA, Department of Epidemiology, School of Public Health, University of Washington, Seattle, WA, USA, Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany, Department of Internal Medicine, University of Utah Health Sciences Center, Salt Lake City, UT, USA, Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA, Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA, Estonian Genome Center, University of Tartu, Tartu, Estonia, Divisions of Endocrinology and Genetics and Center for Basic Translational Obesity Research, Boston Children's Hospital, Boston, MA, USA, Department of Genetics, Harvard Medical School, Boston, MA, USA, Broad Institute, Cambridge, MA, USA, Genetics of Complex Traits, University of Exeter Medical School, Exeter, UK, Queensland Brain Institute, University of Queensland, Brisbane, QLD, Australia, University of Queensland Diamantina Institute, Translation Research Institute, Brisbane, QLD, Australia, Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark, Lyngby, Denmark, Department of Medical Sciences, Uppsala University, Uppsala, Sweden, Department of Medicine, University of North Carolina School of Medicine, Chapel Hill, NC, USA, CHU Nantes, Service de Génétique Médicale, Nantes, France, Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA, Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA, Department of Epidemiology, Harvard School of Public Health, Boston, MA, USA, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA, USC Norris

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http://dx.doi.org/10.1093/ije/dyv082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4481609PMC
April 2015

Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles.

World J Gastroenterol 2014 Jan;20(1):204-13

Sébastien Küry, Céline Garrec, Fabrice Airaud, Flora Breheret, Virginie Guibert, Cécile Frenard, Stéphane Bezieau, CHU Nantes, Service de Génétique Médicale, 44093 Nantes CEDEX 1, France.

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http://dx.doi.org/10.3748/wjg.v20.i1.204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3886009PMC
January 2014

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

Am J Hum Genet 2013 Dec 21;93(6):1100-7. Epub 2013 Nov 21.

Unité de Génétique Clinique, Service de Génétique Médicale, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l'Interrégion Grand-Ouest, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France; Institut National de la Santé et de la Recherche Médicale UMR 1089, Atlantic Gene Therapy Institute, University of Nantes, 44007 Nantes, France.

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http://dx.doi.org/10.1016/j.ajhg.2013.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853004PMC
December 2013

Genetic predictors of circulating 25-hydroxyvitamin d and risk of colorectal cancer.

Cancer Epidemiol Biomarkers Prev 2013 Nov 27;22(11):2037-46. Epub 2013 Aug 27.

Authors' Affiliations: Program in Molecular and Genetic Epidemiology, Department of Epidemiology, Departments of Nutrition, and Biostatistics, Harvard School of Public Health; Department of Medicine, and Channing Division of Network Medicine, Brigham and Women's Hospital; Division of Gastroenterology, Massachusetts General Hospital; Department of Medicine, Harvard Medical School; Gastrointestinal Malignancy Program, and Medical-Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts; Public Health Sciences Division, Fred Hutchinson Cancer Research Center; Department of Epidemiology, University of Washington School of Public Health, Seattle, Washington; Division of Gastroenterology and Hepatology, University of North Carolina School of Medicine, Chapel Hill, North Carolina; Divisions of Cancer Epidemiology and Genetics, and Cancer Control and Population Sciences, National Cancer Institute, NIH, Bethesda; University of Maryland, School of Medicine, Baltimore, Maryland; Service de Génétique Médicale, CHU Nantes, Nantes, France; Divisions of Clinical Epidemiology and Aging Research and Cancer Epidemiology, German Cancer Research Center, Heidelberg, Germany; Division of Research, Kaiser Permanente Medical Care Program, Oakland; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California; Translational Genomics Research Institute, Phoenix, Arizona; Department of Surgery, Toronto General Hospital; Ontario Institute for Cancer Research; Departments of Medical Biophysics and Molecular Genetics, University of Toronto, Toronto; Faculty of Medicine, The University of Ottawa, Ottawa, Ontario, Canada; Department of Environmental Medicine, Division of Epidemiology, New York University School of Medicine, New York; Department of Social and Preventive Medicine, University of Buffalo, Buffalo, New York; Melborne School of Population Health, The University of Melbourne, Melbourne, Victoria, Australia; Epidemiology Pro

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http://dx.doi.org/10.1158/1055-9965.EPI-13-0209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3818310PMC
November 2013

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

Nat Genet 2013 Sep 21;45(9):1044-9. Epub 2013 Jul 21.

Department of Clinical and Experimental Cardiology, Heart Failure Research Center, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ng.2712DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869788PMC
September 2013

SBERIA: set-based gene-environment interaction test for rare and common variants in complex diseases.

Genet Epidemiol 2013 Jul 29;37(5):452-64. Epub 2013 May 29.

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.

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http://dx.doi.org/10.1002/gepi.21735DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3713231PMC
July 2013

Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

Gastroenterology 2013 Apr 22;144(4):799-807.e24. Epub 2012 Dec 22.

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

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http://kooperberg.fhcrc.org/papers/2013petersb.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S001650851201846
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http://dx.doi.org/10.1053/j.gastro.2012.12.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3636812PMC
April 2013

Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).

Eur J Hum Genet 2012 Aug 18;20(8). Epub 2012 Apr 18.

CHU Nantes Hôtel-Dieu, Institut de Biologie, Service de Génétique Médicale, Laboratoire de Génétique Moléculaire, Nantes, France.

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http://www.nature.com/articles/ejhg201264
Publisher Site
http://dx.doi.org/10.1038/ejhg.2012.64DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400739PMC
August 2012

Acrodermatitis enteropathica: a novel SLC39A4 gene mutation found in a patient with an early-onset.

Pediatr Dermatol 2011 Nov-Dec;28(6):735-6. Epub 2011 Sep 9.

Dermatology Department, Hospitais da Universidade de Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1111/j.1525-1470.2011.01487.xDOI Listing
March 2012

Clinical utility gene card for: acrodermatitis enteropathica.

Eur J Hum Genet 2012 Mar 14;20(3). Epub 2011 Dec 14.

CHU Nantes, Institut de Biologie, Laboratoire de génétique moléculaire, Service de Génétique Médicale, Nantes, France.

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http://dx.doi.org/10.1038/ejhg.2011.227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3283171PMC
March 2012