Patrick Concannon

Patrick Concannon

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Patrick Concannon

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Event Analysis: Using Transcript Events To Improve Estimates of Abundance in RNA-seq Data.

G3 (Bethesda) 2018 08 30;8(9):2923-2940. Epub 2018 Aug 30.

Department of Molecular Genetics and Microbiology and Genetics Institute, University of Florida, Gainesville, Florida

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http://dx.doi.org/10.1534/g3.118.200373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6118309PMC
August 2018

Molecular-genetic characterization of common, noncoding UBASH3A variants associated with type 1 diabetes.

Eur J Hum Genet 2018 07 28;26(7):1060-1064. Epub 2018 Feb 28.

Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, FL, USA.

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http://dx.doi.org/10.1038/s41431-018-0123-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018660PMC
July 2018

Breast Cancer Family History and Contralateral Breast Cancer Risk in Young Women: An Update From the Women's Environmental Cancer and Radiation Epidemiology Study.

J Clin Oncol 2018 05 5;36(15):1513-1520. Epub 2018 Apr 5.

Anne S. Reiner, Julia Sisti, Marinela Capanu, Mark Robson, Xiaolin Liang, Meghan Woods, and Jonine L. Bernstein, Memorial Sloan Kettering Cancer Center; Mark Robson, Cornell University; Roy Shore, New York University School of Medicine, New York, NY; Esther M. John, Cancer Prevention Institute of California, Fremont, and Stanford School of Medicine, Stanford; David V. Conti, Daniel O. Stram, and Duncan C. Thomas, University of Southern California, Los Angeles; Leslie Bernstein, City of Hope National Medical Center, Duarte, CA; Charles F. Lynch, University of Iowa, Iowa City, IA; Jennifer D. Brooks and Julia A. Knight, University of Toronto; Julia A. Knight, Sinai Health System, Toronto, Ontario, Canada; Lene Mellemkjær, Danish Cancer Society Research Center, Copenhagen, Denmark; John D. Boice, Vanderbilt University Medical Center and the Vanderbilt-Ingram Cancer Center, Nashville, TN; Patrick Concannon, University of Florida, Gainesville, FL; Marc Tischkowitz, University of Cambridge, Cambridge, United Kingdom; David Duggan, Translational Genomics Research Institute, Phoenix, AZ; and Kathleen E. Malone, Fred Hutchinson Cancer Research Center, Seattle, WA.

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http://dx.doi.org/10.1200/JCO.2017.77.3424DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959199PMC
May 2018

ChIP Technique to Study Protein Dynamics at Defined DNA Double Strand Breaks.

Methods Mol Biol 2017 ;1599:245-262

Genetics Institute, University of Florida, Gainesville, FL, 32610, USA.

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http://dx.doi.org/10.1007/978-1-4939-6955-5_18DOI Listing
February 2018

Identification of ATIC as a Novel Target for Chemoradiosensitization.

Int J Radiat Oncol Biol Phys 2018 01 21;100(1):162-173. Epub 2017 Sep 21.

Genetics Institute and Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, Florida. Electronic address:

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http://dx.doi.org/10.1016/j.ijrobp.2017.08.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5736427PMC
January 2018

ATM, radiation, and the risk of second primary breast cancer.

Int J Radiat Biol 2017 10 27;93(10):1121-1127. Epub 2017 Jul 27.

b Genetics Institute and Department of Pathology, Immunology and Laboratory Medicine , University of Florida , Gainesville , FL , U.S.A.

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https://www.tandfonline.com/doi/full/10.1080/09553002.2017.1
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http://dx.doi.org/10.1080/09553002.2017.1344363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6113688PMC
October 2017

UBASH3A Mediates Risk for Type 1 Diabetes Through Inhibition of T-Cell Receptor-Induced NF-κB Signaling.

Diabetes 2017 07 12;66(7):2033-2043. Epub 2017 Jun 12.

Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, FL

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http://dx.doi.org/10.2337/db16-1023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482087PMC
July 2017

Systematic Evaluation of Genes and Genetic Variants Associated with Type 1 Diabetes Susceptibility.

J Immunol 2016 Apr 24;196(7):3043-53. Epub 2016 Feb 24.

Centre for Diabetes Research, Harry Perkins Institute of Medical Research, Nedlands, Western Australia 6009, Australia; Centre of Medical Research, University of Western Australia, Nedlands, Western Australia 6009, Australia;

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http://dx.doi.org/10.4049/jimmunol.1502056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4799766PMC
April 2016

Targeted Deep Sequencing in Multiple-Affected Sibships of European Ancestry Identifies Rare Deleterious Variants in PTPN22 That Confer Risk for Type 1 Diabetes.

Diabetes 2016 Mar 2;65(3):794-802. Epub 2015 Dec 2.

Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, FL Genetics Institute, University of Florida, Gainesville, FL

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http://dx.doi.org/10.2337/db15-0322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4764149PMC
March 2016

Effects of type 1 diabetes-associated IFIH1 polymorphisms on MDA5 function and expression.

Curr Diab Rep 2015 Nov;15(11):96

Department of Pathology, Immunology and Laboratory Medicine, University of Florida, 2033 Mowry Rd., P.O. Box 103633, Gainesville, FL, 32611, USA.

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http://dx.doi.org/10.1007/s11892-015-0656-8DOI Listing
November 2015

Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer.

Authors:
Kate Lawrenson Edwin S Iversen Jonathan Tyrer Rachel Palmieri Weber Patrick Concannon Dennis J Hazelett Qiyuan Li Jeffrey R Marks Andrew Berchuck Janet M Lee Katja K H Aben Hoda Anton-Culver Natalia Antonenkova Elisa V Bandera Yukie Bean Matthias W Beckmann Maria Bisogna Line Bjorge Natalia Bogdanova Louise A Brinton Angela Brooks-Wilson Fiona Bruinsma Ralf Butzow Ian G Campbell Karen Carty Jenny Chang-Claude Georgia Chenevix-Trench Ann Chen Zhihua Chen Linda S Cook Daniel W Cramer Julie M Cunningham Cezary Cybulski Joanna Plisiecka-Halasa Joe Dennis Ed Dicks Jennifer A Doherty Thilo Dörk Andreas du Bois Diana Eccles Douglas T Easton Robert P Edwards Ursula Eilber Arif B Ekici Peter A Fasching Brooke L Fridley Yu-Tang Gao Aleksandra Gentry-Maharaj Graham G Giles Rosalind Glasspool Ellen L Goode Marc T Goodman Jacek Gronwald Philipp Harter Hanis Nazihah Hasmad Alexander Hein Florian Heitz Michelle A T Hildebrandt Peter Hillemanns Estrid Hogdall Claus Hogdall Satoyo Hosono Anna Jakubowska James Paul Allan Jensen Beth Y Karlan Susanne Kruger Kjaer Linda E Kelemen Melissa Kellar Joseph L Kelley Lambertus A Kiemeney Camilla Krakstad Diether Lambrechts Sandrina Lambrechts Nhu D Le Alice W Lee Rikki Cannioto Arto Leminen Jenny Lester Douglas A Levine Dong Liang Jolanta Lissowska Karen Lu Jan Lubinski Lene Lundvall Leon F A G Massuger Keitaro Matsuo Valerie McGuire John R McLaughlin Heli Nevanlinna Iain McNeish Usha Menon Francesmary Modugno Kirsten B Moysich Steven A Narod Lotte Nedergaard Roberta B Ness Mat Adenan Noor Azmi Kunle Odunsi Sara H Olson Irene Orlow Sandra Orsulic Celeste L Pearce Tanja Pejovic Liisa M Pelttari Jennifer Permuth-Wey Catherine M Phelan Malcolm C Pike Elizabeth M Poole Susan J Ramus Harvey A Risch Barry Rosen Mary Anne Rossing Joseph H Rothstein Anja Rudolph Ingo B Runnebaum Iwona K Rzepecka Helga B Salvesen Agnieszka Budzilowska Thomas A Sellers Xiao-Ou Shu Yurii B Shvetsov Nadeem Siddiqui Weiva Sieh Honglin Song Melissa C Southey Lara Sucheston Ingvild L Tangen Soo-Hwang Teo Kathryn L Terry Pamela J Thompson Agnieszka Timorek Shelley S Tworoger Els Van Nieuwenhuysen Ignace Vergote Robert A Vierkant Shan Wang-Gohrke Christine Walsh Nicolas Wentzensen Alice S Whittemore Kristine G Wicklund Lynne R Wilkens Yin-Ling Woo Xifeng Wu Anna H Wu Hannah Yang Wei Zheng Argyrios Ziogas Gerhard A Coetzee Matthew L Freedman Alvaro N A Monteiro Joanna Moes-Sosnowska Jolanta Kupryjanczyk Paul D Pharoah Simon A Gayther Joellen M Schildkraut

Carcinogenesis 2015 Nov 29;36(11):1341-53. Epub 2015 Sep 29.

Department of Community and Family Medicine, Duke University Medical Center, Durham, NC 27710, USA, Cancer Control and Population Sciences, Duke Cancer Institute, Durham, NC 27710, USA,

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http://dx.doi.org/10.1093/carcin/bgv138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4635670PMC
November 2015

Role of Type 1 Diabetes-Associated SNPs on Autoantibody Positivity in the Type 1 Diabetes Genetics Consortium: Overview.

Diabetes Care 2015 Oct;38 Suppl 2:S1-3

Genetics Institute and Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, FL.

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http://dx.doi.org/10.2337/dcs15-2001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582912PMC
October 2015

Summary of the Type 1 Diabetes Genetics Consortium Autoantibody Workshop.

Diabetes Care 2015 Oct;38 Suppl 2:S45-8

Genetics Institute and Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, FL.

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http://dx.doi.org/10.2337/dcs15-2008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582908PMC
October 2015

Genetic and epigenetic variation in the lineage specification of regulatory T cells.

Elife 2015 Oct 28;4:e07571. Epub 2015 Oct 28.

Immunology Program, Howard Hughes Medical Institute, Memorial Sloan Kettering Cancer Center, New York, United States.

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http://dx.doi.org/10.7554/eLife.07571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623597PMC
October 2015

Cytomegalovirus infection enhances the immune response to influenza.

Sci Transl Med 2015 Apr;7(281):281ra43

Department of Microbiology and Immunology, School of Medicine, Stanford University, Stanford, CA 94305, USA. Institute for Immunity, Transplantation and Infection, School of Medicine, Stanford University, Stanford, CA 94305, USA. The Howard Hughes Medical Institute.

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http://dx.doi.org/10.1126/scitranslmed.aaa2293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4505610PMC
April 2015

Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

Authors:
Karoline B Kuchenbaecker Susan J Ramus Jonathan Tyrer Andrew Lee Howard C Shen Jonathan Beesley Kate Lawrenson Lesley McGuffog Sue Healey Janet M Lee Tassja J Spindler Yvonne G Lin Tanja Pejovic Yukie Bean Qiyuan Li Simon Coetzee Dennis Hazelett Alexander Miron Melissa Southey Mary Beth Terry David E Goldgar Saundra S Buys Ramunas Janavicius Cecilia M Dorfling Elizabeth J van Rensburg Susan L Neuhausen Yuan Chun Ding Thomas V O Hansen Lars Jønson Anne-Marie Gerdes Bent Ejlertsen Daniel Barrowdale Joe Dennis Javier Benitez Ana Osorio Maria Jose Garcia Ian Komenaka Jeffrey N Weitzel Pamela Ganschow Paolo Peterlongo Loris Bernard Alessandra Viel Bernardo Bonanni Bernard Peissel Siranoush Manoukian Paolo Radice Laura Papi Laura Ottini Florentia Fostira Irene Konstantopoulou Judy Garber Debra Frost Jo Perkins Radka Platte Steve Ellis Andrew K Godwin Rita Katharina Schmutzler Alfons Meindl Christoph Engel Christian Sutter Olga M Sinilnikova Francesca Damiola Sylvie Mazoyer Dominique Stoppa-Lyonnet Kathleen Claes Kim De Leeneer Judy Kirk Gustavo C Rodriguez Marion Piedmonte David M O'Malley Miguel de la Hoya Trinidad Caldes Kristiina Aittomäki Heli Nevanlinna J Margriet Collée Matti A Rookus Jan C Oosterwijk Laima Tihomirova Nadine Tung Ute Hamann Claudine Isaccs Marc Tischkowitz Evgeny N Imyanitov Maria A Caligo Ian G Campbell Frans B L Hogervorst Edith Olah Orland Diez Ignacio Blanco Joan Brunet Conxi Lazaro Miquel Angel Pujana Anna Jakubowska Jacek Gronwald Jan Lubinski Grzegorz Sukiennicki Rosa B Barkardottir Marie Plante Jacques Simard Penny Soucy Marco Montagna Silvia Tognazzo Manuel R Teixeira Vernon S Pankratz Xianshu Wang Noralane Lindor Csilla I Szabo Noah Kauff Joseph Vijai Carol A Aghajanian Georg Pfeiler Andreas Berger Christian F Singer Muy-Kheng Tea Catherine M Phelan Mark H Greene Phuong L Mai Gad Rennert Anna Marie Mulligan Sandrine Tchatchou Irene L Andrulis Gord Glendon Amanda Ewart Toland Uffe Birk Jensen Torben A Kruse Mads Thomassen Anders Bojesen Jamal Zidan Eitan Friedman Yael Laitman Maria Soller Annelie Liljegren Brita Arver Zakaria Einbeigi Marie Stenmark-Askmalm Olufunmilayo I Olopade Robert L Nussbaum Timothy R Rebbeck Katherine L Nathanson Susan M Domchek Karen H Lu Beth Y Karlan Christine Walsh Jenny Lester Alexander Hein Arif B Ekici Matthias W Beckmann Peter A Fasching Diether Lambrechts Els Van Nieuwenhuysen Ignace Vergote Sandrina Lambrechts Ed Dicks Jennifer A Doherty Kristine G Wicklund Mary Anne Rossing Anja Rudolph Jenny Chang-Claude Shan Wang-Gohrke Ursula Eilber Kirsten B Moysich Kunle Odunsi Lara Sucheston Shashi Lele Lynne R Wilkens Marc T Goodman Pamela J Thompson Yurii B Shvetsov Ingo B Runnebaum Matthias Dürst Peter Hillemanns Thilo Dörk Natalia Antonenkova Natalia Bogdanova Arto Leminen Liisa M Pelttari Ralf Butzow Francesmary Modugno Joseph L Kelley Robert P Edwards Roberta B Ness Andreas du Bois Florian Heitz Ira Schwaab Philipp Harter Keitaro Matsuo Satoyo Hosono Sandra Orsulic Allan Jensen Susanne Kruger Kjaer Estrid Hogdall Hanis Nazihah Hasmad Mat Adenan Noor Azmi Soo-Hwang Teo Yin-Ling Woo Brooke L Fridley Ellen L Goode Julie M Cunningham Robert A Vierkant Fiona Bruinsma Graham G Giles Dong Liang Michelle A T Hildebrandt Xifeng Wu Douglas A Levine Maria Bisogna Andrew Berchuck Edwin S Iversen Joellen M Schildkraut Patrick Concannon Rachel Palmieri Weber Daniel W Cramer Kathryn L Terry Elizabeth M Poole Shelley S Tworoger Elisa V Bandera Irene Orlow Sara H Olson Camilla Krakstad Helga B Salvesen Ingvild L Tangen Line Bjorge Anne M van Altena Katja K H Aben Lambertus A Kiemeney Leon F A G Massuger Melissa Kellar Angela Brooks-Wilson Linda E Kelemen Linda S Cook Nhu D Le Cezary Cybulski Hannah Yang Jolanta Lissowska Louise A Brinton Nicolas Wentzensen Claus Hogdall Lene Lundvall Lotte Nedergaard Helen Baker Honglin Song Diana Eccles Ian McNeish James Paul Karen Carty Nadeem Siddiqui Rosalind Glasspool Alice S Whittemore Joseph H Rothstein Valerie McGuire Weiva Sieh Bu-Tian Ji Wei Zheng Xiao-Ou Shu Yu-Tang Gao Barry Rosen Harvey A Risch John R McLaughlin Steven A Narod Alvaro N Monteiro Ann Chen Hui-Yi Lin Jenny Permuth-Wey Thomas A Sellers Ya-Yu Tsai Zhihua Chen Argyrios Ziogas Hoda Anton-Culver Aleksandra Gentry-Maharaj Usha Menon Patricia Harrington Alice W Lee Anna H Wu Celeste L Pearce Gerry Coetzee Malcolm C Pike Agnieszka Dansonka-Mieszkowska Agnieszka Timorek Iwona K Rzepecka Jolanta Kupryjanczyk Matt Freedman Houtan Noushmehr Douglas F Easton Kenneth Offit Fergus J Couch Simon Gayther Paul P Pharoah Antonis C Antoniou Georgia Chenevix-Trench

Nat Genet 2015 Feb 12;47(2):164-71. Epub 2015 Jan 12.

Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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https://www.repository.cam.ac.uk/bitstream/handle/1810/24688
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http://www.nature.com/doifinder/10.1038/ng.3185
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http://dx.doi.org/10.1038/ng.3185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4445140PMC
February 2015

Fine mapping and functional studies of risk variants for type 1 diabetes at chromosome 16p13.13.

Diabetes 2014 Dec 9;63(12):4360-8. Epub 2014 Jul 9.

Center for Public Health Genomics, UVA School of Medicine, University of Virginia, Charlottesville, VA Department of Public Health Sciences, UVA School of Medicine, University of Virginia, Charlottesville, VA

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http://dx.doi.org/10.2337/db13-1785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4237999PMC
December 2014

A method for gene-based pathway analysis using genomewide association study summary statistics reveals nine new type 1 diabetes associations.

Genet Epidemiol 2014 Dec 4;38(8):661-70. Epub 2014 Nov 4.

JDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK.

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http://dx.doi.org/10.1002/gepi.21853DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4258092PMC
December 2014

Breast-cancer risk in families with mutations in PALB2.

N Engl J Med 2014 Aug;371(6):497-506

From the Departments of Public Health and Primary Care (A.C.A., D.B., A.L., D.F.E.) and Oncology (D.F.E.), Centre for Cancer Genetic Epidemiology, Department of Oncology (D.F.E.), and Department of Medical Genetics and National Institute for Health Research Cambridge Biomedical Research Centre (M.T.), University of Cambridge, and the Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrooke's Hospital (J.R., D.S., M.T.), Cambridge, and the Oncogenetics Team, Institute of Cancer Research and Royal Marsden National Health Service Foundation Trust, London (C.T., S.S., N.R.) - all in the United Kingdom; the Division of Medical Genetics, Department of Medicine, University of Washington, Seattle (S.C., M.-C.K.); the Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital (T.H., S.K., H.N.), and the Department of Clinical Genetics, Helsinki University Central Hospital (K.A.), Helsinki, the Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, and the Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Center NordLab, Oulu University Hospital (K.P., R.W.), and the Department of Clinical Genetics, University of Oulu and Oulu University Hospital (J.S.M.), Oulu, Biocenter Kuopio and Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio (A.M.), and the Institute of Biomedical Technology-Cancer Genomics, University of Tampere, Tampere (A.K.) - all in Finland; the Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium (K.D.L., B.P., K.B.M.C.); the Molecular Diagnostics Laboratory, Institute of Nuclear and Radiologic Sciences and Technology, Energy and Safety, National Center for Scientific Research Demokritos, Athens (F.F., D.Y.); the Department of Genetics, Eastern Ontario Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa (E.T.), Samuel Lunenfeld Research

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http://dx.doi.org/10.1056/NEJMoa1400382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157599PMC
August 2014

CTSH regulates β-cell function and disease progression in newly diagnosed type 1 diabetes patients.

Proc Natl Acad Sci U S A 2014 Jul 30;111(28):10305-10. Epub 2014 Jun 30.

Department of Pediatrics, Herlev University Hospital, 2730 Herlev, Denmark;Glostrup Research Institute, Glostrup University Hospital, 2600 Glostrup, Denmark,Department of Biomedical Sciences, Faculty of Health Sciences, University of Copenhagen, 2200 Copenhagen, Denmark; and

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http://dx.doi.org/10.1073/pnas.1402571111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4104872PMC
July 2014

A hybrid qPCR/SNP array approach allows cost efficient assessment of KIR gene copy numbers in large samples.

BMC Genomics 2014 Apr 11;15:274. Epub 2014 Apr 11.

JDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust/MRC Building, CB2 0XY, Cambridge, UK.

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http://dx.doi.org/10.1186/1471-2164-15-274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4029094PMC
April 2014

Imputing amino acid polymorphisms in human leukocyte antigens.

PLoS One 2013 6;8(6):e64683. Epub 2013 Jun 6.

Harvard-MIT (Massachusetts Institute of Technology) Division of Health Sciences and Technology, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0064683PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3675122PMC
January 2014

Intensity modulated radiotherapy for sinonasal malignancies with a focus on optic pathway preservation.

J Hematol Oncol 2013 Jan 7;6. Epub 2013 Jan 7.

Department of Radiation Oncology, West Virginia University, 1 Medical Center Dr, Morgantown, Morgantown, WV 26506, USA.

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http://jhoonline.biomedcentral.com/articles/10.1186/1756-872
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http://dx.doi.org/10.1186/1756-8722-6-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3561126PMC
January 2013

Variation in genes related to obesity, weight, and weight change and risk of contralateral breast cancer in the WECARE Study population.

Cancer Epidemiol Biomarkers Prev 2012 Dec 2;21(12):2261-7. Epub 2012 Oct 2.

Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, 307 E 63rd Street, 2nd floor, New York 10065, USA.

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http://dx.doi.org/10.1158/1055-9965.EPI-12-1036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3518741PMC
December 2012

Evidence of gene-gene interaction and age-at-diagnosis effects in type 1 diabetes.

Diabetes 2012 Nov 13;61(11):3012-7. Epub 2012 Aug 13.

Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, Department of Medical Genetics, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.2337/db11-1694DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3478521PMC
November 2012

Practitioner characteristics and the treatment of children and adolescents with attention deficit hyperactivity disorder.

J Paediatr Child Health 2012 Jun 23;48(6):483-9. Epub 2011 Nov 23.

School of Psychiatry, University of New South Wales, Prince of Wales Hospital, Hospital Road, Randwick, New South Wales, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2011.02242.xDOI Listing
June 2012

Risk of contralateral breast cancer associated with common variants in BRCA1 and BRCA2: potential modifying effect of BRCA1/BRCA2 mutation carrier status.

Breast Cancer Res Treat 2011 Jun 15;127(3):819-29. Epub 2010 Dec 15.

Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Harlyne J Norris Cancer Research Tower, 1450 Biggy Street Room 1509J, Los Angeles, CA 90033, USA.

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http://dx.doi.org/10.1007/s10549-010-1285-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234998PMC
June 2011

Reproductive cycles of the domestic bitch.

Anim Reprod Sci 2011 Apr 8;124(3-4):200-10. Epub 2010 Oct 8.

Department of Biomedical Sciences, College of Veterinary Medicine, Cornell University, Ithaca, NY 14850, USA.

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http://dx.doi.org/10.1016/j.anireprosci.2010.08.028DOI Listing
April 2011

Dual functions of Nbs1 in the repair of DNA breaks and proliferation ensure proper V(D)J recombination and T-cell development.

Mol Cell Biol 2010 Dec 4;30(23):5572-81. Epub 2010 Oct 4.

Leibniz Institute for Age Research-Fritz Lipmann Institute (FLI), Beutenbergstrasse 11, 07743 Jena, Germany.

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http://dx.doi.org/10.1128/MCB.00917-10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2976431PMC
December 2010

Self-reported side effects in children and adolescents taking risperidone.

Australas Psychiatry 2010 Feb;18(1):42-5

Northern Sydney Central Coast Health, NSW, Australia.

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http://dx.doi.org/10.3109/10398560903033381DOI Listing
February 2010

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

Nat Genet 2009 Jun 10;41(6):703-7. Epub 2009 May 10.

Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.

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http://www.nature.com/articles/ng.381
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http://dx.doi.org/10.1038/ng.381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2889014PMC
June 2009

Genetics of type 1A diabetes.

N Engl J Med 2009 Apr;360(16):1646-54

Center for Public Health Genomics, University of Virginia, Charlottesville, VA 22908, USA.

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http://dx.doi.org/10.1056/NEJMra0808284DOI Listing
April 2009

Nuclear export of NBN is required for normal cellular responses to radiation.

Mol Cell Biol 2009 Feb 15;29(4):1000-6. Epub 2008 Dec 15.

Molecular Genetics Program, Benaroya Research Institute, Seattle, Washington 98101-27951, USA.

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http://dx.doi.org/10.1128/MCB.01131-08DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2643806PMC
February 2009

Recent progress in the genetics of diabetes.

Horm Res 2009 Jan 21;71 Suppl 1:17-23. Epub 2009 Jan 21.

Department of Public Health Sciences and Medicine, Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.

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https://www.karger.com/Article/FullText/178031
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http://dx.doi.org/10.1159/000178031DOI Listing
January 2009

Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1.

Hum Mol Genet 2008 Oct 28;17(20):3247-53. Epub 2008 Jul 28.

Genome Damage and Stability Centre, University of Sussex, Brighton, East Sussex BN1 9RQ, UK.

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http://dx.doi.org/10.1093/hmg/ddn220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708519PMC
October 2008

Endogenous hSNM1B/Apollo interacts with TRF2 and stimulates ATM in response to ionizing radiation.

DNA Repair (Amst) 2008 Aug 12;7(8):1192-201. Epub 2008 May 12.

Institut für Humangenetik, Charité - Universitätsmedizin Berlin, Campus Virchow Klinikum, Berlin, Germany.

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http://dx.doi.org/10.1016/j.dnarep.2008.03.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2582150PMC
August 2008

Rapid screen for truncating ATM mutations by PTT-ELISA.

Mutat Res 2008 Apr 31;640(1-2):139-44. Epub 2008 Jan 31.

Department of Pathology and Laboratory Medicine, The David Geffen School of Medicine at UCLA, CA 90095, United States.

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http://dx.doi.org/10.1016/j.mrfmmm.2008.01.002DOI Listing
April 2008

Genetic variation in PTPN22 corresponds to altered function of T and B lymphocytes.

J Immunol 2007 Oct;179(7):4704-10

Translational Research Program, Benaroya Research Institute, Virginia Mason, Seattle, WA 98101, USA.

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http://dx.doi.org/10.4049/jimmunol.179.7.4704DOI Listing
October 2007

Recent advances in the immunogenetics of human type 1 diabetes.

Curr Opin Immunol 2006 Oct 1;18(5):634-8. Epub 2006 Aug 1.

Program in Molecular Genetics, Benaroya Research Institute, Seattle, WA 98101-2795, USA.

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http://dx.doi.org/10.1016/j.coi.2006.07.013DOI Listing
October 2006

A haplotype-based analysis of the PTPN22 locus in type 1 diabetes.

Diabetes 2006 Oct;55(10):2883-9

Molecular Genetics Program, Benaroya Research Institute, 1201 Ninth Ave., Seattle, WA 98101-2795, USA.

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http://diabetes.diabetesjournals.org/cgi/doi/10.2337/db06-02
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http://dx.doi.org/10.2337/db06-0225DOI Listing
October 2006

The Type 1 Diabetes Genetics Consortium.

Ann N Y Acad Sci 2006 Oct;1079:1-8

Department of Public Health Sciences, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA.

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http://dx.doi.org/10.1196/annals.1375.001DOI Listing
October 2006

The genetics of type 1 diabetes: lessons learned and future challenges.

J Autoimmun 2005 2;25 Suppl:34-9. Epub 2005 Nov 2.

Molecular Genetics Program, Benaroya Research Institute, 1201 Ninth Avenue, Seattle, WA 98101-2795, USA.

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http://dx.doi.org/10.1016/j.jaut.2005.09.007DOI Listing
June 2006

Active role for nibrin in the kinetics of atm activation.

Mol Cell Biol 2006 Mar;26(5):1691-9

Molecular Genetics Program, Benaroya Research Institute, Seattle, WA 98101, USA.

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http://dx.doi.org/10.1128/MCB.26.5.1691-1699.2006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1430256PMC
March 2006

The CHEK2*1100delC allelic variant and risk of breast cancer: screening results from the Breast Cancer Family Registry.

Cancer Epidemiol Biomarkers Prev 2006 Feb;15(2):348-52

Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, 3rd Floor, 307 East 63rd Street, New York, New York 10021, USA.

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http://dx.doi.org/10.1158/1055-9965.EPI-05-0557DOI Listing
February 2006

A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.

Am J Med Genet A 2005 Sep;137A(3):283-7

Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.30869
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September 2005

DNA-dependent protein kinase and XRCC4-DNA ligase IV mobilization in the cell in response to DNA double strand breaks.

J Biol Chem 2005 Feb 31;280(8):7060-9. Epub 2004 Oct 31.

Institut de Pharmacologie et de Biologie Structurale, CNRS UMR 5089, 205 route de Narbonne, 31077 Toulouse, Cedex 4, France.

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February 2005

Human SNM1B is required for normal cellular response to both DNA interstrand crosslink-inducing agents and ionizing radiation.

Oncogene 2004 Nov;23(53):8611-8

Molecular Genetics Program, Benaroya Research Institute, Seattle, WA 98101-2795, USA.

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http://www.nature.com/articles/1207895
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November 2004

Comparison of three brachytherapy gynecological intercavitary treatment planning systems.

Med Dosim 2004 ;29(2):115-7

University of Texas M D Anderson School of Health Sciences Medical Dosimetry Program, Houston, TX, USA.

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September 2004

Independent roles for nibrin and Mre11-Rad50 in the activation and function of Atm.

J Biol Chem 2004 Sep 1;279(37):38813-9. Epub 2004 Jul 1.

Molecular Genetics Program, Benaroya Research Institute at Virginia Mason, USA.

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September 2004

A functional variant of IRS1 is associated with type 1 diabetes in families from the US and UK.

Mol Genet Metab 2004 Apr;81(4):291-4

Molecular Genetics Program, Benaroya Research Institute, Seattle, WA 98101, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920400026
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http://dx.doi.org/10.1016/j.ymgme.2003.10.018DOI Listing
April 2004

Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression.

Mol Genet Metab 2003 Dec;80(4):437-43

Department of Pathology, The David Geffen School of Medicine at UCLA, Los Angeles, CA 90095-1732, USA.

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December 2003

Functional delivery of large genomic DNA to human cells with a peptide-lipid vector.

J Gene Med 2003 Oct;5(10):883-892

Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.

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http://dx.doi.org/10.1002/jgm.420DOI Listing
October 2003

Nibrin forkhead-associated domain and breast cancer C-terminal domain are both required for nuclear focus formation and phosphorylation.

J Biol Chem 2003 Jun 4;278(24):21944-51. Epub 2003 Apr 4.

Molecular Genetics Program, Virginia Mason Research Center, University of Washington School of Medicine, Seattle, WA 98101-2795, USA.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M211689200
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June 2003

Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome.

J Pediatr Hematol Oncol 2003 Mar;25(3):248-51

Division of Pediatric Hematology-Oncology, Children's Hospital of Michigan, Detroit, Michigan 48201, USA.

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March 2003

Mapping genes for autoimmunity in humans: type 1 diabetes as a model.

Immunol Rev 2002 Dec;190:182-94

Molecular Genetics Program, Virginia Mason Research Center, Seattle, WA 98101, USA.

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December 2002