Quinten Waisfisz

Quinten Waisfisz

UNVERIFIED PROFILE

Are you Quinten Waisfisz?   Register this Author

Register author
Quinten Waisfisz

Quinten Waisfisz

Publications by authors named "Quinten Waisfisz"

Are you Quinten Waisfisz?   Register this Author

80Publications

2406Reads

48Profile Views

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.

Authors:
Christopher J Rhodes Ken Batai Marta Bleda Matthias Haimel Laura Southgate Marine Germain Michael W Pauciulo Charaka Hadinnapola Jurjan Aman Barbara Girerd Amit Arora Jo Knight Ken B Hanscombe Jason H Karnes Marika Kaakinen Henning Gall Anna Ulrich Lars Harbaum Inês Cebola Jorge Ferrer Katie Lutz Emilia M Swietlik Ferhaan Ahmad Philippe Amouyel Stephen L Archer Rahul Argula Eric D Austin David Badesch Sahil Bakshi Christopher Barnett Raymond Benza Nitin Bhatt Harm J Bogaard Charles D Burger Murali Chakinala Colin Church John G Coghlan Robin Condliffe Paul A Corris Cesare Danesino Stéphanie Debette C Gregory Elliott Jean Elwing Melanie Eyries Terry Fortin Andre Franke Robert P Frantz Adaani Frost Joe G N Garcia Stefano Ghio Hossein-Ardeschir Ghofrani J Simon R Gibbs John Harley Hua He Nicholas S Hill Russel Hirsch Arjan C Houweling Luke S Howard Dunbar Ivy David G Kiely James Klinger Gabor Kovacs Tim Lahm Matthias Laudes Rajiv D Machado Robert V MacKenzie Ross Keith Marsolo Lisa J Martin Shahin Moledina David Montani Steven D Nathan Michael Newnham Andrea Olschewski Horst Olschewski Ronald J Oudiz Willem H Ouwehand Andrew J Peacock Joanna Pepke-Zaba Zia Rehman Ivan Robbins Dan M Roden Erika B Rosenzweig Ghulam Saydain Laura Scelsi Robert Schilz Werner Seeger Christian M Shaffer Robert W Simms Marc Simon Olivier Sitbon Jay Suntharalingam Haiyang Tang Alexander Y Tchourbanov Thenappan Thenappan Fernando Torres Mark R Toshner Carmen M Treacy Anton Vonk Noordegraaf Quinten Waisfisz Anna K Walsworth Robert E Walter John Wharton R James White Jeffrey Wilt Stephen J Wort Delphine Yung Allan Lawrie Marc Humbert Florent Soubrier David-Alexandre Trégouët Inga Prokopenko Richard Kittles Stefan Gräf William C Nichols Richard C Trembath Ankit A Desai Nicholas W Morrell Martin R Wilkins

Lancet Respir Med 2019 Mar 5;7(3):227-238. Epub 2018 Dec 5.

Department of Medicine, Imperial College London, London, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S2213-2600(18)30409-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391516PMC
March 2019

Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy.

Neurogenetics 2019 03 8;20(1):1-8. Epub 2018 Dec 8.

Department of Child Neurology and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10048-018-0560-x
Publisher Site
http://dx.doi.org/10.1007/s10048-018-0560-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411670PMC
March 2019

Biallelic variants in and cause deafness and (ovario)leukodystrophy.

Neurology 2019 Mar 8;92(11):e1225-e1237. Epub 2019 Feb 8.

From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007098DOI Listing
March 2019

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.

Authors:
Lang Wu Wei Shi Jirong Long Xingyi Guo Kyriaki Michailidou Jonathan Beesley Manjeet K Bolla Xiao-Ou Shu Yingchang Lu Qiuyin Cai Fares Al-Ejeh Esdy Rozali Qin Wang Joe Dennis Bingshan Li Chenjie Zeng Helian Feng Alexander Gusev Richard T Barfield Irene L Andrulis Hoda Anton-Culver Volker Arndt Kristan J Aronson Paul L Auer Myrto Barrdahl Caroline Baynes Matthias W Beckmann Javier Benitez Marina Bermisheva Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Hiltrud Brauch Hermann Brenner Louise Brinton Per Broberg Sara Y Brucker Barbara Burwinkel Trinidad Caldés Federico Canzian Brian D Carter J Esteban Castelao Jenny Chang-Claude Xiaoqing Chen Ting-Yuan David Cheng Hans Christiansen Christine L Clarke Margriet Collée Sten Cornelissen Fergus J Couch David Cox Angela Cox Simon S Cross Julie M Cunningham Kamila Czene Mary B Daly Peter Devilee Kimberly F Doheny Thilo Dörk Isabel Dos-Santos-Silva Martine Dumont Miriam Dwek Diana M Eccles Ursula Eilber A Heather Eliassen Christoph Engel Mikael Eriksson Laura Fachal Peter A Fasching Jonine Figueroa Dieter Flesch-Janys Olivia Fletcher Henrik Flyger Lin Fritschi Marike Gabrielson Manuela Gago-Dominguez Susan M Gapstur Montserrat García-Closas Mia M Gaudet Maya Ghoussaini Graham G Giles Mark S Goldberg David E Goldgar Anna González-Neira Pascal Guénel Eric Hahnen Christopher A Haiman Niclas Håkansson Per Hall Emily Hallberg Ute Hamann Patricia Harrington Alexander Hein Belynda Hicks Peter Hillemanns Antoinette Hollestelle Robert N Hoover John L Hopper Guanmengqian Huang Keith Humphreys David J Hunter Anna Jakubowska Wolfgang Janni Esther M John Nichola Johnson Kristine Jones Michael E Jones Audrey Jung Rudolf Kaaks Michael J Kerin Elza Khusnutdinova Veli-Matti Kosma Vessela N Kristensen Diether Lambrechts Loic Le Marchand Jingmei Li Sara Lindström Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jan Lubinski Craig Luccarini Michael P Lux Robert J MacInnis Tom Maishman Ivana Maleva Kostovska Arto Mannermaa JoAnn E Manson Sara Margolin Dimitrios Mavroudis Hanne Meijers-Heijboer Alfons Meindl Usha Menon Jeffery Meyer Anna Marie Mulligan Susan L Neuhausen Heli Nevanlinna Patrick Neven Sune F Nielsen Børge G Nordestgaard Olufunmilayo I Olopade Janet E Olson Håkan Olsson Paolo Peterlongo Julian Peto Dijana Plaseska-Karanfilska Ross Prentice Nadege Presneau Katri Pylkäs Brigitte Rack Paolo Radice Nazneen Rahman Gad Rennert Hedy S Rennert Valerie Rhenius Atocha Romero Jane Romm Anja Rudolph Emmanouil Saloustros Dale P Sandler Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Andreas Schneeweiss Rodney J Scott Christopher G Scott Sheila Seal Mitul Shah Martha J Shrubsole Ann Smeets Melissa C Southey John J Spinelli Jennifer Stone Harald Surowy Anthony J Swerdlow Rulla M Tamimi William Tapper Jack A Taylor Mary Beth Terry Daniel C Tessier Abigail Thomas Kathrin Thöne Rob A E M Tollenaar Diana Torres Thérèse Truong Michael Untch Celine Vachon David Van Den Berg Daniel Vincent Quinten Waisfisz Clarice R Weinberg Camilla Wendt Alice S Whittemore Hans Wildiers Walter C Willett Robert Winqvist Alicja Wolk Lucy Xia Xiaohong R Yang Argyrios Ziogas Elad Ziv Alison M Dunning Paul D P Pharoah Jacques Simard Roger L Milne Stacey L Edwards Peter Kraft Douglas F Easton Georgia Chenevix-Trench Wei Zheng

Nat Genet 2018 07 18;50(7):968-978. Epub 2018 Jun 18.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41588-018-0132-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314198PMC
July 2018

Homozygous DMRT2 variant associates with severe rib malformations in a newborn.

Am J Med Genet A 2018 05;176(5):1216-1221

Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38668DOI Listing
May 2018

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Am J Hum Genet 2018 04 22;102(4):676-684. Epub 2018 Mar 22.

Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, QC H4A 3J1, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Canada; Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, QC H4A 3J1, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985283PMC
April 2018

Benign and malignant tumors in Rubinstein-Taybi syndrome.

Am J Med Genet A 2018 03 23;176(3):597-608. Epub 2018 Jan 23.

Department of Pathology, VU University Medical Centre, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838508PMC
March 2018

WISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data.

Eur J Hum Genet 2017 12 8;25(12):1354-1363. Epub 2017 Nov 8.

Clinical Genetics, VU University Medical Center Amsterdam, van der Boechorststraat 7 (BS7/J377), 1081 BT, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-017-0005-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865163PMC
December 2017

Association analysis identifies 65 new breast cancer risk loci.

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

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

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

View Article

Download full-text PDF

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

founder mutation in the Roma population causes recessive variant of H-ABC.

Neurology 2017 Oct 20;89(17):1821-1828. Epub 2017 Sep 20.

From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada.

View Article

Download full-text PDF

Source
http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000004578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664304PMC
October 2017

Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

Neurology 2016 Oct 24;87(17):1777-1786. Epub 2016 Sep 24.

From the Departments of Child Neurology (M.B., S.H.K., H.S.B., T.E.M.A., M.S.v.d.K.) and Pathology (M.B., H.W.M.N.), Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam; Department of Clinical Genetics (Q.W.), VU University Medical Center, Amsterdam, the Netherlands; Laboratory for Ultrastructural Neuropathology (C.C.-d.G.), Institute Born-Bunge and University of Antwerp, Belgium; Department of Clinical genetics (S.A.M.J.L.O.), Leiden University Medical Center, Leiden; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000003251DOI Listing
October 2016

Acute intermittent porphyria-related leukoencephalopathy.

Neurology 2016 Sep 24;87(12):1258-65. Epub 2016 Aug 24.

From the Department of Child Neurology, Amsterdam Neuroscience (S.H.K., M.S.v.d.K.), and Department of Clinical Genetics (Q.W.), VU University Medical Center, Amsterdam; Department of Internal Medicine (R.A.N., J.G.L.), and Netherlands Porphyria Center, Center for Lysosomal and Metabolic Diseases, Department of Internal Medicine (E.C.H.F., J.G.L.), Erasmus MC, Rotterdam; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000003129DOI Listing
September 2016

Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers.

J Clin Oncol 2016 08 6;34(23):2750-60. Epub 2016 Jun 6.

Marjanka K. Schmidt, Frans Hogervorst, Richard van Hien, Sten Cornelissen, Annegien Broeks, and Lizet van der Kolk, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital; Muriel A. Adank, Hanne Meijers, and Quinten Waisfisz, VU University Medical Center, Amsterdam; Antoinette Hollestelle, Mieke Schutte, Maartje Hooning, and Caroline Seynaeve, Erasmus MC Cancer Institute; Ans van den Ouweland, Erasmus University Medical Center, Rotterdam; Rob A.E.M. Tollenaar, Leiden University Medical Center, Leiden, the Netherlands; Irene L. Andrulis and Julia A. Knight, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital; Irene L. Andrulis and Julia A. Knight, University of Toronto, Toronto, Ontario, Canada; Hoda Anton-Culver and Argyrios Ziogas, University of California, Irvine; Peter A. Fasching, David Geffen School of Medicine, University of California, Los Angeles; Esther M. John, Cancer Prevention Institute of California, Fremont; Esther M. John, Alice S. Whittemore, Stanford University School of Medicine, Stanford, CA; Natalia N. Antonenkova, N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus; Antonis C. Antoniou, Manjeet K. Bolla, Andrew Lee, Alison M. Dunning, Paul D.P. Pharoah, Qin Wang, and Douglas F. Easton, University of Cambridge, Cambridge; Angela Cox and Simon S. Cross, University of Sheffield, Sheffield; Olivia Fletcher, Michael Jones, and Anthony Swerdlow, The Institute of Cancer Research; Julian Peto, London School of Hygiene and Tropical Medicine; Elinor J. Sawyer, King's College London, London; Jonine Figueroa, University of Edinburgh Medical School, Edinburgh; Ian Tomlinson, University of Oxford, Oxford, United Kingdom; Volker Arndt, Hiltrud Brauch, Hermann Brenner, Barbara Burwinkel, Jenny Chang-Claude, Anja Rudolph, Harold Surowy, German Cancer Research Center; Barbara Burwinkel and Harald Surowy, University of Heidelberg, Heidelberg; Natalia V. Bogdanova, Peter Hillemanns, Tjoung-Won Park-Simon, and Thilo

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1200/JCO.2016.66.5844DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5019754PMC
August 2016

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Am J Hum Genet 2016 06 26;98(6):1249-1255. Epub 2016 May 26.

Children's Health Research Center, Sanford Research, Sioux Falls, SD 57104, USA; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA; Neurogenetics Research Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Program in Neuroscience, Arizona State University, Tempe, AZ 85287, USA; Pediatric Movement Disorders Center, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2016.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908178PMC
June 2016

Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.

Neuropediatrics 2015 Dec 4;46(6):392-400. Epub 2015 Nov 4.

Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0035-1564791DOI Listing
December 2015

Genomic profiling of CHEK2*1100delC-mutated breast carcinomas.

BMC Cancer 2015 Nov 9;15:877. Epub 2015 Nov 9.

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12885-015-1880-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4640207PMC
November 2015

Recessive ITPA mutations cause an early infantile encephalopathy.

Ann Neurol 2015 Oct 21;78(4):649-58. Epub 2015 Aug 21.

Department of Child Neurology, VU University Medical Center, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.24496DOI Listing
October 2015

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.

Eur J Hum Genet 2015 Sep 24;23(9):1151-7. Epub 2014 Dec 24.

1] Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands [2] Department of Functional Genomics, Center for Neurogenomics and Cognition Research, VU University, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2014.273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538208PMC
September 2015

First steps in exploring prospective exome sequencing of consanguineous couples.

Eur J Med Genet 2014 Nov-Dec;57(11-12):613-6. Epub 2014 Oct 2.

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.09.003DOI Listing
July 2015

MicroRNA related polymorphisms and breast cancer risk.

Authors:
Sofia Khan Dario Greco Kyriaki Michailidou Roger L Milne Taru A Muranen Tuomas Heikkinen Kirsimari Aaltonen Joe Dennis Manjeet K Bolla Jianjun Liu Per Hall Astrid Irwanto Keith Humphreys Jingmei Li Kamila Czene Jenny Chang-Claude Rebecca Hein Anja Rudolph Petra Seibold Dieter Flesch-Janys Olivia Fletcher Julian Peto Isabel dos Santos Silva Nichola Johnson Lorna Gibson Zoe Aitken John L Hopper Helen Tsimiklis Minh Bui Enes Makalic Daniel F Schmidt Melissa C Southey Carmel Apicella Jennifer Stone Quinten Waisfisz Hanne Meijers-Heijboer Muriel A Adank Rob B van der Luijt Alfons Meindl Rita K Schmutzler Bertram Müller-Myhsok Peter Lichtner Clare Turnbull Nazneen Rahman Stephen J Chanock David J Hunter Angela Cox Simon S Cross Malcolm W R Reed Marjanka K Schmidt Annegien Broeks Laura J Van't Veer Frans B Hogervorst Peter A Fasching Michael G Schrauder Arif B Ekici Matthias W Beckmann Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Javier Benitez Pilar M Zamora Jose I A Perez Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Paul D P Pharoah Alison M Dunning Mitul Shah Robert Luben Judith Brown Fergus J Couch Xianshu Wang Celine Vachon Janet E Olson Diether Lambrechts Matthieu Moisse Robert Paridaens Marie-Rose Christiaens Pascal Guénel Thérèse Truong Pierre Laurent-Puig Claire Mulot Frederick Marme Barbara Burwinkel Andreas Schneeweiss Christof Sohn Elinor J Sawyer Ian Tomlinson Michael J Kerin Nicola Miller Irene L Andrulis Julia A Knight Sandrine Tchatchou Anna Marie Mulligan Thilo Dörk Natalia V Bogdanova Natalia N Antonenkova Hoda Anton-Culver Hatef Darabi Mikael Eriksson Montserrat Garcia-Closas Jonine Figueroa Jolanta Lissowska Louise Brinton Peter Devilee Robert A E M Tollenaar Caroline Seynaeve Christi J van Asperen Vessela N Kristensen Susan Slager Amanda E Toland Christine B Ambrosone Drakoulis Yannoukakos Annika Lindblom Sara Margolin Paolo Radice Paolo Peterlongo Monica Barile Paolo Mariani Maartje J Hooning John W M Martens J Margriet Collée Agnes Jager Anna Jakubowska Jan Lubinski Katarzyna Jaworska-Bieniek Katarzyna Durda Graham G Giles Catriona McLean Hiltrud Brauch Thomas Brüning Yon-Dschun Ko Hermann Brenner Aida Karina Dieffenbach Volker Arndt Christa Stegmaier Anthony Swerdlow Alan Ashworth Nick Orr Michael Jones Jacques Simard Mark S Goldberg France Labrèche Martine Dumont Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Mervi Grip Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Arto Mannermaa Ute Hamann Georgia Chenevix-Trench Carl Blomqvist Kristiina Aittomäki Douglas F Easton Heli Nevanlinna

PLoS One 2014 12;9(11):e109973. Epub 2014 Nov 12.

Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.

View Article

Download full-text PDF

Source
http://pubman.mpdl.mpg.de/pubman/item/escidoc:2147492/compon
Web Search
http://dx.plos.org/10.1371/journal.pone.0109973
Publisher Site
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0109973PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4229095PMC
July 2015

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

Authors:
Kyriaki Michailidou Jonathan Beesley Sara Lindstrom Sander Canisius Joe Dennis Michael J Lush Mel J Maranian Manjeet K Bolla Qin Wang Mitul Shah Barbara J Perkins Kamila Czene Mikael Eriksson Hatef Darabi Judith S Brand Stig E Bojesen Børge G Nordestgaard Henrik Flyger Sune F Nielsen Nazneen Rahman Clare Turnbull Olivia Fletcher Julian Peto Lorna Gibson Isabel dos-Santos-Silva Jenny Chang-Claude Dieter Flesch-Janys Anja Rudolph Ursula Eilber Sabine Behrens Heli Nevanlinna Taru A Muranen Kristiina Aittomäki Carl Blomqvist Sofia Khan Kirsimari Aaltonen Habibul Ahsan Muhammad G Kibriya Alice S Whittemore Esther M John Kathleen E Malone Marilie D Gammon Regina M Santella Giske Ursin Enes Makalic Daniel F Schmidt Graham Casey David J Hunter Susan M Gapstur Mia M Gaudet W Ryan Diver Christopher A Haiman Fredrick Schumacher Brian E Henderson Loic Le Marchand Christine D Berg Stephen J Chanock Jonine Figueroa Robert N Hoover Diether Lambrechts Patrick Neven Hans Wildiers Erik van Limbergen Marjanka K Schmidt Annegien Broeks Senno Verhoef Sten Cornelissen Fergus J Couch Janet E Olson Emily Hallberg Celine Vachon Quinten Waisfisz Hanne Meijers-Heijboer Muriel A Adank Rob B van der Luijt Jingmei Li Jianjun Liu Keith Humphreys Daehee Kang Ji-Yeob Choi Sue K Park Keun-Young Yoo Keitaro Matsuo Hidemi Ito Hiroji Iwata Kazuo Tajima Pascal Guénel Thérèse Truong Claire Mulot Marie Sanchez Barbara Burwinkel Frederik Marme Harald Surowy Christof Sohn Anna H Wu Chiu-chen Tseng David Van Den Berg Daniel O Stram Anna González-Neira Javier Benitez M Pilar Zamora Jose Ignacio Arias Perez Xiao-Ou Shu Wei Lu Yu-Tang Gao Hui Cai Angela Cox Simon S Cross Malcolm W R Reed Irene L Andrulis Julia A Knight Gord Glendon Anna Marie Mulligan Elinor J Sawyer Ian Tomlinson Michael J Kerin Nicola Miller Annika Lindblom Sara Margolin Soo Hwang Teo Cheng Har Yip Nur Aishah Mohd Taib Gie-Hooi Tan Maartje J Hooning Antoinette Hollestelle John W M Martens J Margriet Collée William Blot Lisa B Signorello Qiuyin Cai John L Hopper Melissa C Southey Helen Tsimiklis Carmel Apicella Chen-Yang Shen Chia-Ni Hsiung Pei-Ei Wu Ming-Feng Hou Vessela N Kristensen Silje Nord Grethe I Grenaker Alnaes Graham G Giles Roger L Milne Catriona McLean Federico Canzian Dimitrios Trichopoulos Petra Peeters Eiliv Lund Malin Sund Kay-Tee Khaw Marc J Gunter Domenico Palli Lotte Maxild Mortensen Laure Dossus Jose-Maria Huerta Alfons Meindl Rita K Schmutzler Christian Sutter Rongxi Yang Kenneth Muir Artitaya Lophatananon Sarah Stewart-Brown Pornthep Siriwanarangsan Mikael Hartman Hui Miao Kee Seng Chia Ching Wan Chan Peter A Fasching Alexander Hein Matthias W Beckmann Lothar Haeberle Hermann Brenner Aida Karina Dieffenbach Volker Arndt Christa Stegmaier Alan Ashworth Nick Orr Minouk J Schoemaker Anthony J Swerdlow Louise Brinton Montserrat Garcia-Closas Wei Zheng Sandra L Halverson Martha Shrubsole Jirong Long Mark S Goldberg France Labrèche Martine Dumont Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Mervi Grip Hiltrud Brauch Ute Hamann Thomas Brüning Paolo Radice Paolo Peterlongo Siranoush Manoukian Loris Bernard Natalia V Bogdanova Thilo Dörk Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Peter Devilee Robert A E M Tollenaar Caroline Seynaeve Christi J Van Asperen Anna Jakubowska Jan Lubinski Katarzyna Jaworska Tomasz Huzarski Suleeporn Sangrajrang Valerie Gaborieau Paul Brennan James McKay Susan Slager Amanda E Toland Christine B Ambrosone Drakoulis Yannoukakos Maria Kabisch Diana Torres Susan L Neuhausen Hoda Anton-Culver Craig Luccarini Caroline Baynes Shahana Ahmed Catherine S Healey Daniel C Tessier Daniel Vincent Francois Bacot Guillermo Pita M Rosario Alonso Nuria Álvarez Daniel Herrero Jacques Simard Paul P D P Pharoah Peter Kraft Alison M Dunning Georgia Chenevix-Trench Per Hall Douglas F Easton

Nat Genet 2015 Apr 9;47(4):373-80. Epub 2015 Mar 9.

1] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [2] Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.3242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4549775PMC
April 2015

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.

Authors:
Wei-Yu Lin Nicola J Camp Maya Ghoussaini Jonathan Beesley Kyriaki Michailidou John L Hopper Carmel Apicella Melissa C Southey Jennifer Stone Marjanka K Schmidt Annegien Broeks Laura J Van't Veer Emiel J Th Rutgers Kenneth Muir Artitaya Lophatananon Sarah Stewart-Brown Pornthep Siriwanarangsan Peter A Fasching Lothar Haeberle Arif B Ekici Matthias W Beckmann Julian Peto Isabel Dos-Santos-Silva Olivia Fletcher Nichola Johnson Manjeet K Bolla Qin Wang Joe Dennis Elinor J Sawyer Timothy Cheng Ian Tomlinson Michael J Kerin Nicola Miller Frederik Marmé Harald M Surowy Barbara Burwinkel Pascal Guénel Thérèse Truong Florence Menegaux Claire Mulot Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Javier Benitez M Pilar Zamora Jose Ignacio Arias Perez Primitiva Menéndez Anna González-Neira Guillermo Pita M Rosario Alonso Nuria Alvarez Daniel Herrero Hoda Anton-Culver Hermann Brenner Aida Karina Dieffenbach Volker Arndt Christa Stegmaier Alfons Meindl Peter Lichtner Rita K Schmutzler Bertram Müller-Myhsok Hiltrud Brauch Thomas Brüning Yon-Dschun Ko Daniel C Tessier Daniel Vincent Francois Bacot Heli Nevanlinna Kristiina Aittomäki Carl Blomqvist Sofia Khan Keitaro Matsuo Hidemi Ito Hiroji Iwata Akiyo Horio Natalia V Bogdanova Natalia N Antonenkova Thilo Dörk Annika Lindblom Sara Margolin Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Anna H Wu Chiu-Chen Tseng David Van Den Berg Daniel O Stram Patrick Neven Els Wauters Hans Wildiers Diether Lambrechts Jenny Chang-Claude Anja Rudolph Petra Seibold Dieter Flesch-Janys Paolo Radice Paolo Peterlongo Siranoush Manoukian Bernardo Bonanni Fergus J Couch Xianshu Wang Celine Vachon Kristen Purrington Graham G Giles Roger L Milne Catriona Mclean Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Jacques Simard Mark S Goldberg France Labrèche Martine Dumont Soo Hwang Teo Cheng Har Yip Norhashimah Hassan Eranga Nishanthie Vithana Vessela Kristensen Wei Zheng Sandra Deming-Halverson Martha J Shrubsole Jirong Long Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Saila Kauppila Irene L Andrulis Julia A Knight Gord Glendon Sandrine Tchatchou Peter Devilee Robert A E M Tollenaar Caroline Seynaeve Christi J Van Asperen Montserrat García-Closas Jonine Figueroa Jolanta Lissowska Louise Brinton Kamila Czene Hatef Darabi Mikael Eriksson Judith S Brand Maartje J Hooning Antoinette Hollestelle Ans M W Van Den Ouweland Agnes Jager Jingmei Li Jianjun Liu Keith Humphreys Xiao-Ou Shu Wei Lu Yu-Tang Gao Hui Cai Simon S Cross Malcolm W R Reed William Blot Lisa B Signorello Qiuyin Cai Paul D P Pharoah Barbara Perkins Mitul Shah Fiona M Blows Daehee Kang Keun-Young Yoo Dong-Young Noh Mikael Hartman Hui Miao Kee Seng Chia Thomas Choudary Putti Ute Hamann Craig Luccarini Caroline Baynes Shahana Ahmed Mel Maranian Catherine S Healey Anna Jakubowska Jan Lubinski Katarzyna Jaworska-Bieniek Katarzyna Durda Suleeporn Sangrajrang Valerie Gaborieau Paul Brennan James Mckay Susan Slager Amanda E Toland Drakoulis Yannoukakos Chen-Yang Shen Chia-Ni Hsiung Pei-Ei Wu Shian-Ling Ding Alan Ashworth Michael Jones Nick Orr Anthony J Swerdlow Helen Tsimiklis Enes Makalic Daniel F Schmidt Quang M Bui Stephen J Chanock David J Hunter Rebecca Hein Norbert Dahmen Lars Beckmann Kirsimari Aaltonen Taru A Muranen Tuomas Heikkinen Astrid Irwanto Nazneen Rahman Clare A Turnbull Quinten Waisfisz Hanne E J Meijers-Heijboer Muriel A Adank Rob B Van Der Luijt Per Hall Georgia Chenevix-Trench Alison Dunning Douglas F Easton Angela Cox

Hum Mol Genet 2015 Jan 28;24(1):285-98. Epub 2014 Aug 28.

Department of Oncology, University of Sheffield Medical School, Sheffield S10 2RX, UK

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddu431DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4334820PMC
January 2015

Mutations in RARS cause hypomyelination.

Ann Neurol 2014 Jul 16;76(1):134-9. Epub 2014 May 16.

Department of Child Neurology, VU University Medical Center, Amsterdam; Neuroscience Campus Amsterdam, Amsterdam.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ana.24167
Publisher Site
http://dx.doi.org/10.1002/ana.24167DOI Listing
July 2014

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

Brain 2014 Jul 30;137(Pt 7):1921-30. Epub 2014 Apr 30.

1 Department of Child Neurology, VU University Medical Centre, Neuroscience Campus Amsterdam, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands10 Department of Functional Genomics, Centre for Neurogenomics and Cognitive Research, VU University, De Boelelaan 1085, 1081 HV Amsterdam, The Netherlands

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awu110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4345790PMC
July 2014

A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.

Cancer Epidemiol Biomarkers Prev 2014 Apr 3;23(4):658-69. Epub 2014 Feb 3.

Authors' Affiliations: Center for Cancer Epidemiology and Prevention; Departments of Health Studies, Medicine, and Human Genetics; Comprehensive Cancer Center, University of Chicago, Chicago, Illinois; Department of Health Research and Policy, Stanford University School of Medicine; Stanford Cancer Institute, Stanford; Cancer Prevention Institute of California, Fremont; Department of Preventive Medicine, University of Southern California, Los Angeles; Stanford Cancer Institute, Palo Alto, California; Epidemiology and Genetics Research Program; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland; Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington; Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; Department of Environmental Health Sciences, Columbia University Mailman School of Public Health, New York, New York; Integrated Cancer Genomics Division, Translational Genomics Research Institute, Phoenix; Department of Health Science Research, Mayo Clinic Arizona, Scottsdale, Arizona; Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, Massachusetts; Division of Cancer Epidemiology, German Cancer Research Center, Heidelberg; Clinic of Gynaecology and Obstetrics, Division for Gynaecological Tumor-Genetics, Technische Universität München; Max Planck Institute of Psychiatry, Munich; Department of Obstetrics and Gynaecology, Division of Molecular Gynaeco-Oncology, PMV Research Group at the Department of Child and Adolescent Psychiatry and Psychotherapy, University of Cologne; Foundation for Quality and Efficiency in Health Care, Cologne; Department of Cancer Epidemiology/Clinical Cancer Registry; Institute for Medical Biometrics and Epidemiology, University Clinic Hamburg-Eppendorf, Hamburg; Department of Psychiatry, University of Mainz, Mainz, Germany; Samuel Lunenfeld Research Institute; Zane Cohen Cen

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1158/1055-9965.EPI-13-0340DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990360PMC
April 2014

Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics.

Hum Mutat 2013 Oct 16;34(10):1322-8. Epub 2013 Jul 16.

Department of Clinical Genetics, Section of Community Genetics and the EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4285964PMC
October 2013

Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

Authors:
Kyriaki Michailidou Per Hall Anna Gonzalez-Neira Maya Ghoussaini Joe Dennis Roger L Milne Marjanka K Schmidt Jenny Chang-Claude Stig E Bojesen Manjeet K Bolla Qin Wang Ed Dicks Andrew Lee Clare Turnbull Nazneen Rahman Olivia Fletcher Julian Peto Lorna Gibson Isabel Dos Santos Silva Heli Nevanlinna Taru A Muranen Kristiina Aittomäki Carl Blomqvist Kamila Czene Astrid Irwanto Jianjun Liu Quinten Waisfisz Hanne Meijers-Heijboer Muriel Adank Rob B van der Luijt Rebecca Hein Norbert Dahmen Lars Beckman Alfons Meindl Rita K Schmutzler Bertram Müller-Myhsok Peter Lichtner John L Hopper Melissa C Southey Enes Makalic Daniel F Schmidt Andre G Uitterlinden Albert Hofman David J Hunter Stephen J Chanock Daniel Vincent François Bacot Daniel C Tessier Sander Canisius Lodewyk F A Wessels Christopher A Haiman Mitul Shah Robert Luben Judith Brown Craig Luccarini Nils Schoof Keith Humphreys Jingmei Li Børge G Nordestgaard Sune F Nielsen Henrik Flyger Fergus J Couch Xianshu Wang Celine Vachon Kristen N Stevens Diether Lambrechts Matthieu Moisse Robert Paridaens Marie-Rose Christiaens Anja Rudolph Stefan Nickels Dieter Flesch-Janys Nichola Johnson Zoe Aitken Kirsimari Aaltonen Tuomas Heikkinen Annegien Broeks Laura J Van't Veer C Ellen van der Schoot Pascal Guénel Thérèse Truong Pierre Laurent-Puig Florence Menegaux Frederik Marme Andreas Schneeweiss Christof Sohn Barbara Burwinkel M Pilar Zamora Jose Ignacio Arias Perez Guillermo Pita M Rosario Alonso Angela Cox Ian W Brock Simon S Cross Malcolm W R Reed Elinor J Sawyer Ian Tomlinson Michael J Kerin Nicola Miller Brian E Henderson Fredrick Schumacher Loic Le Marchand Irene L Andrulis Julia A Knight Gord Glendon Anna Marie Mulligan Annika Lindblom Sara Margolin Maartje J Hooning Antoinette Hollestelle Ans M W van den Ouweland Agnes Jager Quang M Bui Jennifer Stone Gillian S Dite Carmel Apicella Helen Tsimiklis Graham G Giles Gianluca Severi Laura Baglietto Peter A Fasching Lothar Haeberle Arif B Ekici Matthias W Beckmann Hermann Brenner Heiko Müller Volker Arndt Christa Stegmaier Anthony Swerdlow Alan Ashworth Nick Orr Michael Jones Jonine Figueroa Jolanta Lissowska Louise Brinton Mark S Goldberg France Labrèche Martine Dumont Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Mervi Grip Hiltrud Brauch Ute Hamann Thomas Brüning Paolo Radice Paolo Peterlongo Siranoush Manoukian Bernardo Bonanni Peter Devilee Rob A E M Tollenaar Caroline Seynaeve Christi J van Asperen Anna Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Natalia V Bogdanova Natalia N Antonenkova Thilo Dörk Vessela N Kristensen Hoda Anton-Culver Susan Slager Amanda E Toland Stephen Edge Florentia Fostira Daehee Kang Keun-Young Yoo Dong-Young Noh Keitaro Matsuo Hidemi Ito Hiroji Iwata Aiko Sueta Anna H Wu Chiu-Chen Tseng David Van Den Berg Daniel O Stram Xiao-Ou Shu Wei Lu Yu-Tang Gao Hui Cai Soo Hwang Teo Cheng Har Yip Sze Yee Phuah Belinda K Cornes Mikael Hartman Hui Miao Wei Yen Lim Jen-Hwei Sng Kenneth Muir Artitaya Lophatananon Sarah Stewart-Brown Pornthep Siriwanarangsan Chen-Yang Shen Chia-Ni Hsiung Pei-Ei Wu Shian-Ling Ding Suleeporn Sangrajrang Valerie Gaborieau Paul Brennan James McKay William J Blot Lisa B Signorello Qiuyin Cai Wei Zheng Sandra Deming-Halverson Martha Shrubsole Jirong Long Jacques Simard Montse Garcia-Closas Paul D P Pharoah Georgia Chenevix-Trench Alison M Dunning Javier Benitez Douglas F Easton

Nat Genet 2013 Apr;45(4):353-61, 361e1-2

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

View Article

Download full-text PDF

Source
https://umexpert.um.edu.my/file/publication/00000868_105106.
Web Search
http://www.nature.com/doifinder/10.1038/ng.2563
Publisher Site
http://dx.doi.org/10.1038/ng.2563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3771688PMC
April 2013

Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

Authors:
Montserrat Garcia-Closas Fergus J Couch Sara Lindstrom Kyriaki Michailidou Marjanka K Schmidt Mark N Brook Nick Orr Suhn Kyong Rhie Elio Riboli Heather S Feigelson Loic Le Marchand Julie E Buring Diana Eccles Penelope Miron Peter A Fasching Hiltrud Brauch Jenny Chang-Claude Jane Carpenter Andrew K Godwin Heli Nevanlinna Graham G Giles Angela Cox John L Hopper Manjeet K Bolla Qin Wang Joe Dennis Ed Dicks Will J Howat Nils Schoof Stig E Bojesen Diether Lambrechts Annegien Broeks Irene L Andrulis Pascal Guénel Barbara Burwinkel Elinor J Sawyer Antoinette Hollestelle Olivia Fletcher Robert Winqvist Hermann Brenner Arto Mannermaa Ute Hamann Alfons Meindl Annika Lindblom Wei Zheng Peter Devillee Mark S Goldberg Jan Lubinski Vessela Kristensen Anthony Swerdlow Hoda Anton-Culver Thilo Dörk Kenneth Muir Keitaro Matsuo Anna H Wu Paolo Radice Soo Hwang Teo Xiao-Ou Shu William Blot Daehee Kang Mikael Hartman Suleeporn Sangrajrang Chen-Yang Shen Melissa C Southey Daniel J Park Fleur Hammet Jennifer Stone Laura J Van't Veer Emiel J Rutgers Artitaya Lophatananon Sarah Stewart-Brown Pornthep Siriwanarangsan Julian Peto Michael G Schrauder Arif B Ekici Matthias W Beckmann Isabel Dos Santos Silva Nichola Johnson Helen Warren Ian Tomlinson Michael J Kerin Nicola Miller Federick Marme Andreas Schneeweiss Christof Sohn Therese Truong Pierre Laurent-Puig Pierre Kerbrat Børge G Nordestgaard Sune F Nielsen Henrik Flyger Roger L Milne Jose Ignacio Arias Perez Primitiva Menéndez Heiko Müller Volker Arndt Christa Stegmaier Peter Lichtner Magdalena Lochmann Christina Justenhoven Yon-Dschun Ko Taru A Muranen Kristiina Aittomäki Carl Blomqvist Dario Greco Tuomas Heikkinen Hidemi Ito Hiroji Iwata Yasushi Yatabe Natalia N Antonenkova Sara Margolin Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Rosemary Balleine Chiu-Chen Tseng David Van Den Berg Daniel O Stram Patrick Neven Anne-Sophie Dieudonné Karin Leunen Anja Rudolph Stefan Nickels Dieter Flesch-Janys Paolo Peterlongo Bernard Peissel Loris Bernard Janet E Olson Xianshu Wang Kristen Stevens Gianluca Severi Laura Baglietto Catriona McLean Gerhard A Coetzee Ye Feng Brian E Henderson Fredrick Schumacher Natalia V Bogdanova France Labrèche Martine Dumont Cheng Har Yip Nur Aishah Mohd Taib Ching-Yu Cheng Martha Shrubsole Jirong Long Katri Pylkäs Arja Jukkola-Vuorinen Saila Kauppila Julia A Knight Gord Glendon Anna Marie Mulligan Robertus A E M Tollenaar Caroline M Seynaeve Mieke Kriege Maartje J Hooning Ans M W van den Ouweland Carolien H M van Deurzen Wei Lu Yu-Tang Gao Hui Cai Sabapathy P Balasubramanian Simon S Cross Malcolm W R Reed Lisa Signorello Qiuyin Cai Mitul Shah Hui Miao Ching Wan Chan Kee Seng Chia Anna Jakubowska Katarzyna Jaworska Katarzyna Durda Chia-Ni Hsiung Pei-Ei Wu Jyh-Cherng Yu Alan Ashworth Michael Jones Daniel C Tessier Anna González-Neira Guillermo Pita M Rosario Alonso Daniel Vincent Francois Bacot Christine B Ambrosone Elisa V Bandera Esther M John Gary K Chen Jennifer J Hu Jorge L Rodriguez-Gil Leslie Bernstein Michael F Press Regina G Ziegler Robert M Millikan Sandra L Deming-Halverson Sarah Nyante Sue A Ingles Quinten Waisfisz Helen Tsimiklis Enes Makalic Daniel Schmidt Minh Bui Lorna Gibson Bertram Müller-Myhsok Rita K Schmutzler Rebecca Hein Norbert Dahmen Lars Beckmann Kirsimari Aaltonen Kamila Czene Astrid Irwanto Jianjun Liu Clare Turnbull Nazneen Rahman Hanne Meijers-Heijboer Andre G Uitterlinden Fernando Rivadeneira Curtis Olswold Susan Slager Robert Pilarski Foluso Ademuyiwa Irene Konstantopoulou Nicholas G Martin Grant W Montgomery Dennis J Slamon Claudia Rauh Michael P Lux Sebastian M Jud Thomas Bruning Joellen Weaver Priyanka Sharma Harsh Pathak Will Tapper Sue Gerty Lorraine Durcan Dimitrios Trichopoulos Rosario Tumino Petra H Peeters Rudolf Kaaks Daniele Campa Federico Canzian Elisabete Weiderpass Mattias Johansson Kay-Tee Khaw Ruth Travis Françoise Clavel-Chapelon Laurence N Kolonel Constance Chen Andy Beck Susan E Hankinson Christine D Berg Robert N Hoover Jolanta Lissowska Jonine D Figueroa Daniel I Chasman Mia M Gaudet W Ryan Diver Walter C Willett David J Hunter Jacques Simard Javier Benitez Alison M Dunning Mark E Sherman Georgia Chenevix-Trench Stephen J Chanock Per Hall Paul D P Pharoah Celine Vachon Douglas F Easton Christopher A Haiman Peter Kraft

Nat Genet 2013 Apr;45(4):392-8, 398e1-2

1] Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK. [2] Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK. [3].

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.2561DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3771695PMC
April 2013

Inactivating Mutations in GT198 in Familial and Early-Onset Breast and Ovarian Cancers.

Genes Cancer 2013 Jan;4(1-2):15-25

Cancer Center, Institute of Molecular Medicine and Genetics, Medical College of Georgia, Georgia Regents University, Augusta, GA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1947601913486344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3743154PMC
January 2013

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

Authors:
Afshan Siddiq Fergus J Couch Gary K Chen Sara Lindström Diana Eccles Robert C Millikan Kyriaki Michailidou Daniel O Stram Lars Beckmann Suhn Kyong Rhie Christine B Ambrosone Kristiina Aittomäki Pilar Amiano Carmel Apicella Laura Baglietto Elisa V Bandera Matthias W Beckmann Christine D Berg Leslie Bernstein Carl Blomqvist Hiltrud Brauch Louise Brinton Quang M Bui Julie E Buring Saundra S Buys Daniele Campa Jane E Carpenter Daniel I Chasman Jenny Chang-Claude Constance Chen Françoise Clavel-Chapelon Angela Cox Simon S Cross Kamila Czene Sandra L Deming Robert B Diasio W Ryan Diver Alison M Dunning Lorraine Durcan Arif B Ekici Peter A Fasching Heather Spencer Feigelson Laura Fejerman Jonine D Figueroa Olivia Fletcher Dieter Flesch-Janys Mia M Gaudet Susan M Gerty Jorge L Rodriguez-Gil Graham G Giles Carla H van Gils Andrew K Godwin Nikki Graham Dario Greco Per Hall Susan E Hankinson Arndt Hartmann Rebecca Hein Judith Heinz Robert N Hoover John L Hopper Jennifer J Hu Scott Huntsman Sue A Ingles Astrid Irwanto Claudine Isaacs Kevin B Jacobs Esther M John Christina Justenhoven Rudolf Kaaks Laurence N Kolonel Gerhard A Coetzee Mark Lathrop Loic Le Marchand Adam M Lee I-Min Lee Timothy Lesnick Peter Lichtner Jianjun Liu Eiliv Lund Enes Makalic Nicholas G Martin Catriona A McLean Hanne Meijers-Heijboer Alfons Meindl Penelope Miron Kristine R Monroe Grant W Montgomery Bertram Müller-Myhsok Stefan Nickels Sarah J Nyante Curtis Olswold Kim Overvad Domenico Palli Daniel J Park Julie R Palmer Harsh Pathak Julian Peto Paul Pharoah Nazneen Rahman Fernando Rivadeneira Daniel F Schmidt Rita K Schmutzler Susan Slager Melissa C Southey Kristen N Stevens Hans-Peter Sinn Michael F Press Eric Ross Elio Riboli Paul M Ridker Fredrick R Schumacher Gianluca Severi Isabel Dos Santos Silva Jennifer Stone Malin Sund William J Tapper Michael J Thun Ruth C Travis Clare Turnbull Andre G Uitterlinden Quinten Waisfisz Xianshu Wang Zhaoming Wang Joellen Weaver Rüdiger Schulz-Wendtland Lynne R Wilkens David Van Den Berg Wei Zheng Regina G Ziegler Elad Ziv Heli Nevanlinna Douglas F Easton David J Hunter Brian E Henderson Stephen J Chanock Montserrat Garcia-Closas Peter Kraft Christopher A Haiman Celine M Vachon

Hum Mol Genet 2012 Dec 13;21(24):5373-84. Epub 2012 Sep 13.

Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.

View Article

Download full-text PDF

Source
https://academic.oup.com/hmg/article/21/24/5373/665552
Publisher Site
http://dx.doi.org/10.1093/hmg/dds381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3510753PMC
December 2012

Proteomics of mouse BRCA1-deficient mammary tumors identifies DNA repair proteins with potential diagnostic and prognostic value in human breast cancer.

Mol Cell Proteomics 2012 Jul 24;11(7):M111.013334. Epub 2012 Feb 24.

Oncoproteomics Laboratory, Department of Medical Oncology, VU University Medical Center, De Boelelaan 1117, 1081HV, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/mcp.M111.013334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3394939PMC
July 2012

Genome-wide association analysis identifies three new breast cancer susceptibility loci.

Authors:
Maya Ghoussaini Olivia Fletcher Kyriaki Michailidou Clare Turnbull Marjanka K Schmidt Ed Dicks Joe Dennis Qin Wang Manjeet K Humphreys Craig Luccarini Caroline Baynes Don Conroy Melanie Maranian Shahana Ahmed Kristy Driver Nichola Johnson Nicholas Orr Isabel dos Santos Silva Quinten Waisfisz Hanne Meijers-Heijboer Andre G Uitterlinden Fernando Rivadeneira Per Hall Kamila Czene Astrid Irwanto Jianjun Liu Heli Nevanlinna Kristiina Aittomäki Carl Blomqvist Alfons Meindl Rita K Schmutzler Bertram Müller-Myhsok Peter Lichtner Jenny Chang-Claude Rebecca Hein Stefan Nickels Dieter Flesch-Janys Helen Tsimiklis Enes Makalic Daniel Schmidt Minh Bui John L Hopper Carmel Apicella Daniel J Park Melissa Southey David J Hunter Stephen J Chanock Annegien Broeks Senno Verhoef Frans B L Hogervorst Peter A Fasching Michael P Lux Matthias W Beckmann Arif B Ekici Elinor Sawyer Ian Tomlinson Michael Kerin Frederik Marme Andreas Schneeweiss Christof Sohn Barbara Burwinkel Pascal Guénel Thérèse Truong Emilie Cordina-Duverger Florence Menegaux Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Roger L Milne M Rosario Alonso Anna González-Neira Javier Benítez Hoda Anton-Culver Argyrios Ziogas Leslie Bernstein Christina Clarke Dur Hermann Brenner Heiko Müller Volker Arndt Christa Stegmaier Christina Justenhoven Hiltrud Brauch Thomas Brüning Shan Wang-Gohrke Ursula Eilber Thilo Dörk Peter Schürmann Michael Bremer Peter Hillemanns Natalia V Bogdanova Natalia N Antonenkova Yuri I Rogov Johann H Karstens Marina Bermisheva Darya Prokofieva Elza Khusnutdinova Annika Lindblom Sara Margolin Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Diether Lambrechts Betul T Yesilyurt Giuseppe Floris Karin Leunen Siranoush Manoukian Bernardo Bonanni Stefano Fortuzzi Paolo Peterlongo Fergus J Couch Xianshu Wang Kristen Stevens Adam Lee Graham G Giles Laura Baglietto Gianluca Severi Catriona McLean Grethe Grenaker Alnaes Vessela Kristensen Anne-Lise Børrensen-Dale Esther M John Alexander Miron Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Saila Kauppila Irene L Andrulis Gord Glendon Anna Marie Mulligan Peter Devilee Christie J van Asperen Rob A E M Tollenaar Caroline Seynaeve Jonine D Figueroa Montserrat Garcia-Closas Louise Brinton Jolanta Lissowska Maartje J Hooning Antoinette Hollestelle Rogier A Oldenburg Ans M W van den Ouweland Angela Cox Malcolm W R Reed Mitul Shah Ania Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Michael Jones Minouk Schoemaker Alan Ashworth Anthony Swerdlow Jonathan Beesley Xiaoqing Chen Kenneth R Muir Artitaya Lophatananon Suthee Rattanamongkongul Arkom Chaiwerawattana Daehee Kang Keun-Young Yoo Dong-Young Noh Chen-Yang Shen Jyh-Cherng Yu Pei-Ei Wu Chia-Ni Hsiung Annie Perkins Ruth Swann Louiza Velentzis Diana M Eccles Will J Tapper Susan M Gerty Nikki J Graham Bruce A J Ponder Georgia Chenevix-Trench Paul D P Pharoah Mark Lathrop Alison M Dunning Nazneen Rahman Julian Peto Douglas F Easton

Nat Genet 2012 Jan 22;44(3):312-8. Epub 2012 Jan 22.

Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, UK.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ng.1049
Publisher Site
http://dx.doi.org/10.1038/ng.1049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3653403PMC
January 2012

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.

Authors:
Christopher A Maxwell Javier Benítez Laia Gómez-Baldó Ana Osorio Núria Bonifaci Ricardo Fernández-Ramires Sylvain V Costes Elisabet Guinó Helen Chen Gareth J R Evans Pooja Mohan Isabel Català Anna Petit Helena Aguilar Alberto Villanueva Alvaro Aytes Jordi Serra-Musach Gad Rennert Flavio Lejbkowicz Paolo Peterlongo Siranoush Manoukian Bernard Peissel Carla B Ripamonti Bernardo Bonanni Alessandra Viel Anna Allavena Loris Bernard Paolo Radice Eitan Friedman Bella Kaufman Yael Laitman Maya Dubrovsky Roni Milgrom Anna Jakubowska Cezary Cybulski Bohdan Gorski Katarzyna Jaworska Katarzyna Durda Grzegorz Sukiennicki Jan Lubiński Yin Yao Shugart Susan M Domchek Richard Letrero Barbara L Weber Frans B L Hogervorst Matti A Rookus J Margriet Collee Peter Devilee Marjolijn J Ligtenberg Rob B van der Luijt Cora M Aalfs Quinten Waisfisz Juul Wijnen Cornelis E P van Roozendaal Douglas F Easton Susan Peock Margaret Cook Clare Oliver Debra Frost Patricia Harrington D Gareth Evans Fiona Lalloo Rosalind Eeles Louise Izatt Carol Chu Diana Eccles Fiona Douglas Carole Brewer Heli Nevanlinna Tuomas Heikkinen Fergus J Couch Noralane M Lindor Xianshu Wang Andrew K Godwin Maria A Caligo Grazia Lombardi Niklas Loman Per Karlsson Hans Ehrencrona Anna von Wachenfeldt Rosa Bjork Barkardottir Ute Hamann Muhammad U Rashid Adriana Lasa Trinidad Caldés Raquel Andrés Michael Schmitt Volker Assmann Kristen Stevens Kenneth Offit João Curado Hagen Tilgner Roderic Guigó Gemma Aiza Joan Brunet Joan Castellsagué Griselda Martrat Ander Urruticoechea Ignacio Blanco Laima Tihomirova David E Goldgar Saundra Buys Esther M John Alexander Miron Melissa Southey Mary B Daly Rita K Schmutzler Barbara Wappenschmidt Alfons Meindl Norbert Arnold Helmut Deissler Raymonda Varon-Mateeva Christian Sutter Dieter Niederacher Evgeny Imyamitov Olga M Sinilnikova Dominique Stoppa-Lyonne Sylvie Mazoyer Carole Verny-Pierre Laurent Castera Antoine de Pauw Yves-Jean Bignon Nancy Uhrhammer Jean-Philippe Peyrat Philippe Vennin Sandra Fert Ferrer Marie-Agnès Collonge-Rame Isabelle Mortemousque Amanda B Spurdle Jonathan Beesley Xiaoqing Chen Sue Healey Mary Helen Barcellos-Hoff Marc Vidal Stephen B Gruber Conxi Lázaro Gabriel Capellá Lesley McGuffog Katherine L Nathanson Antonis C Antoniou Georgia Chenevix-Trench Markus C Fleisch Víctor Moreno Miguel Angel Pujana

PLoS Biol 2011 Nov 15;9(11):e1001199. Epub 2011 Nov 15.

Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Biomedical Research Institute-IDIBELL, L'Hospitalet, Catalonia, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pbio.1001199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3217025PMC
November 2011

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers.

Breast Cancer Res 2010 29;12(6):R102. Epub 2010 Nov 29.

Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/bcr2785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3046447PMC
September 2011

Fanconi anemia gene mutations are not involved in sporadic Wilms tumor.

Pediatr Blood Cancer 2010 Oct;55(4):742-4

Section Oncogenetics, Department of Clinical Genetics, VU Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pbc.22588DOI Listing
October 2010

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Authors:
Antonis C Antoniou Olga M Sinilnikova Lesley McGuffog Sue Healey Heli Nevanlinna Tuomas Heikkinen Jacques Simard Amanda B Spurdle Jonathan Beesley Xiaoqing Chen Susan L Neuhausen Yuan C Ding Fergus J Couch Xianshu Wang Zachary Fredericksen Paolo Peterlongo Bernard Peissel Bernardo Bonanni Alessandra Viel Loris Bernard Paolo Radice Csilla I Szabo Lenka Foretova Michal Zikan Kathleen Claes Mark H Greene Phuong L Mai Gad Rennert Flavio Lejbkowicz Irene L Andrulis Hilmi Ozcelik Gord Glendon Anne-Marie Gerdes Mads Thomassen Lone Sunde Maria A Caligo Yael Laitman Tair Kontorovich Shimrit Cohen Bella Kaufman Efrat Dagan Ruth Gershoni Baruch Eitan Friedman Katja Harbst Gisela Barbany-Bustinza Johanna Rantala Hans Ehrencrona Per Karlsson Susan M Domchek Katherine L Nathanson Ana Osorio Ignacio Blanco Adriana Lasa Javier Benítez Ute Hamann Frans B L Hogervorst Matti A Rookus J Margriet Collee Peter Devilee Marjolijn J Ligtenberg Rob B van der Luijt Cora M Aalfs Quinten Waisfisz Juul Wijnen Cornelis E P van Roozendaal Susan Peock Margaret Cook Debra Frost Clare Oliver Radka Platte D Gareth Evans Fiona Lalloo Rosalind Eeles Louise Izatt Rosemarie Davidson Carol Chu Diana Eccles Trevor Cole Shirley Hodgson Andrew K Godwin Dominique Stoppa-Lyonnet Bruno Buecher Mélanie Léoné Brigitte Bressac-de Paillerets Audrey Remenieras Olivier Caron Gilbert M Lenoir Nicolas Sevenet Michel Longy Sandra Fert Ferrer Fabienne Prieur David Goldgar Alexander Miron Esther M John Saundra S Buys Mary B Daly John L Hopper Mary Beth Terry Yosuf Yassin Christian Singer Daphne Gschwantler-Kaulich Christine Staudigl Thomas v O Hansen Rosa Bjork Barkardottir Tomas Kirchhoff Prodipto Pal Kristi Kosarin Kenneth Offit Marion Piedmonte Gustavo C Rodriguez Katie Wakeley John F Boggess Jack Basil Peter E Schwartz Stephanie V Blank Amanda E Toland Marco Montagna Cinzia Casella Evgeny N Imyanitov Anna Allavena Rita K Schmutzler Beatrix Versmold Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Dieter Niederacher Helmut Deissler Britta Fiebig Christian Suttner Ines Schönbuchner Dorothea Gadzicki Trinidad Caldes Miguel de la Hoya Karen A Pooley Douglas F Easton Georgia Chenevix-Trench

Hum Mol Genet 2009 Nov 5;18(22):4442-56. Epub 2009 Aug 5.

Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit, University of Cambridge, Cambridge, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddp372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2782243PMC
November 2009

Activated intrinsic apoptosis pathway is a key related prognostic parameter in acute myeloid leukemia.

J Clin Oncol 2007 Apr;25(10):1209-15

Department of Hematology, VU University Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1200/JCO.2006.08.4061DOI Listing
April 2007

Inducibility of nuclear Rad51 foci after DNA damage distinguishes all Fanconi anemia complementation groups from D1/BRCA2.

Mutat Res 2006 Feb 8;594(1-2):39-48. Epub 2005 Sep 8.

Department of Toxicogenetics, Leiden University Medical Center, Wassenaarseweg 72, NL-2333 AL Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S002751070500378
Publisher Site
http://dx.doi.org/10.1016/j.mrfmmm.2005.07.008DOI Listing
February 2006

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

Nat Genet 2005 Sep 21;37(9):934-5. Epub 2005 Aug 21.

Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng1625DOI Listing
September 2005

MLC1: a novel protein in distal astroglial processes.

J Neuropathol Exp Neurol 2005 May;64(5):412-9

Department of Pediatrics/Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/jnen/64.5.412DOI Listing
May 2005

The Fanconi anemia gene product FANCF is a flexible adaptor protein.

J Biol Chem 2004 Sep 15;279(38):39421-30. Epub 2004 Jul 15.

Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, NL-1081BT Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M407034200DOI Listing
September 2004

Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes.

Blood 2004 Apr 20;103(7):2498-503. Epub 2003 Nov 20.

Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1182/blood-2003-08-2915DOI Listing
April 2004

Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia.

Br J Haematol 2003 Nov;123(3):469-71

Department of Medical and Molecular Genetics, Division of Genetics and Development Guy's, King's and St Thomas's School of Medicine, King's College London, Guy's Hospital, London, UK.

View Article

Download full-text PDF

Source
November 2003

A novel ubiquitin ligase is deficient in Fanconi anemia.

Nat Genet 2003 Oct 14;35(2):165-70. Epub 2003 Sep 14.

Laboratory of Genetics, National Institute on Aging, National Institutes of Health, 333 Cassell Drive, TRIAD Center Room 3000, Baltimore, Maryland 21224, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng1241DOI Listing
October 2003

Genetic reversion in an acute myelogenous leukemia cell line from a Fanconi anemia patient with biallelic mutations in BRCA2.

Cancer Res 2003 May;63(10):2688-94

Division of Cellular Signaling, Institute for Advanced Medical Research, Keio University School of Medicine, Tokyo 160-8582, Japan.

View Article

Download full-text PDF

Source
May 2003

Analysis of baseline and cisplatin-inducible gene expression in Fanconi anemia cells using oligonucleotide-based microarrays.

BMC Blood Disord 2002 Nov 26;2(1). Epub 2002 Nov 26.

Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC138804PMC
November 2002

Biallelic inactivation of BRCA2 in Fanconi anemia.

Science 2002 Jul 13;297(5581):606-9. Epub 2002 Jun 13.

Department of Pediatric Oncology, Children's Hospital, Harvard Medical School, 44 Binney Street, Boston, MA 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/science.1073834DOI Listing
July 2002