Patrick Concannon

Patrick Concannon,

DIR & PROF

Department: RE-GENETICS INSTITUTE-GENERAL
Business Phone: (352) 273-8290
Business Email: patcon@ufl.edu

About Patrick Concannon

Dr. Patrick Concannon received his doctoral training at the University of California, Los Angeles and postdoctoral training at the California Institute of Technology. Prior to coming to UF, Dr. Concannon served as the associate director of the Center for Public Health Genomics, the Hanison professor of biochemistry and molecular genetics and a professor of hematology and oncology. Previously, he served as associate institute director and molecular genetics program director at the Benaroya Research Institute at Virginia Mason in Seattle. Supported by more than $12 million in grants from the National Institutes of Health, the Bill and Melinda Gates Foundation and the Juvenile Diabetes Research Foundation, Dr. Concannon’s work has led to more than 150 peer-reviewed papers in top journals. In his current role as the UF Genetics Institute Director, Dr. Concannon works closely with researchers from the College of Medicine, the Institute of Food and Agricultural Sciences, and the College of Liberal Arts and Sciences to strengthen collaboration.

Publications

2021
Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.
Nature genetics. 53(7):962-971 [DOI] 10.1038/s41588-021-00880-5. [PMID] 34127860.
2021
Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screening.
Human mutation. 42(9):1124-1138 [DOI] 10.1002/humu.24241. [PMID] 34153142.
2021
Integrative analyses of TEDDY Omics data reveal lipid metabolism abnormalities, increased intracellular ROS and heightened inflammation prior to autoimmunity for type 1 diabetes.
Genome biology. 22(1) [DOI] 10.1186/s13059-021-02262-w. [PMID] 33478573.
2021
Smoking, Radiation Therapy, and Contralateral Breast Cancer Risk in Young Women.
Journal of the National Cancer Institute. [DOI] 10.1093/jnci/djab047. [PMID] 33779721.
2020
A case-control study of the joint effect of reproductive factors and radiation treatment for first breast cancer and risk of contralateral breast cancer in the WECARE study.
Breast (Edinburgh, Scotland). 54:62-69 [DOI] 10.1016/j.breast.2020.07.007. [PMID] 32927238.
2020
Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 38(7):674-685 [DOI] 10.1200/JCO.19.01907. [PMID] 31841383.
2020
Genetics of Type 1 Diabetes Comes of Age.
Diabetes care. 43(1):16-18 [DOI] 10.2337/dci19-0049. [PMID] 31862821.
2020
Genome-Wide Association Study of Cryptosporidiosis in Infants Implicates PRKCA.
mBio. 11(1) [DOI] 10.1128/mBio.03343-19. [PMID] 32019797.
2020
Machine learning on genome-wide association studies to predict the risk of radiation-associated contralateral breast cancer in the WECARE Study.
PloS one. 15(2) [DOI] 10.1371/journal.pone.0226157. [PMID] 32106268.
2020
Radiation Treatment, ATM, BRCA1/2, and CHEK2*1100delC Pathogenic Variants and Risk of Contralateral Breast Cancer.
Journal of the National Cancer Institute. 112(12):1275-1279 [DOI] 10.1093/jnci/djaa031. [PMID] 32119081.
2019
Association of a Pathway-Specific Genetic Risk Score With Risk of Radiation-Associated Contralateral Breast Cancer.
JAMA network open. 2(9) [DOI] 10.1001/jamanetworkopen.2019.12259. [PMID] 31560388.
2019
UBASH3A Regulates the Synthesis and Dynamics of TCR-CD3 Complexes.
Journal of immunology (Baltimore, Md. : 1950). 203(11):2827-2836 [DOI] 10.4049/jimmunol.1801338. [PMID] 31659016.
2018
Agreement between self-reported and register-based cardiovascular events among Danish breast cancer survivors.
Journal of cancer survivorship : research and practice. 12(1):95-100 [DOI] 10.1007/s11764-017-0648-6. [PMID] 28963606.
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.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 36(15):1513-1520 [DOI] 10.1200/JCO.2017.77.3424. [PMID] 29620998.
2018
Event Analysis: Using Transcript Events To Improve Estimates of Abundance in RNA-seq Data.
G3 (Bethesda, Md.). 8(9):2923-2940 [DOI] 10.1534/g3.118.200373. [PMID] 30021829.
2018
Genome-Wide Association Study Reveals Genetic Link between Diarrhea-Associated Entamoeba histolytica Infection and Inflammatory Bowel Disease.
mBio. 9(5) [DOI] 10.1128/mBio.01668-18. [PMID] 30228239.
2018
Identification of ATIC as a Novel Target for Chemoradiosensitization.
International journal of radiation oncology, biology, physics. 100(1):162-173 [DOI] 10.1016/j.ijrobp.2017.08.033. [PMID] 29029884.
2018
Molecular-genetic characterization of common, noncoding UBASH3A variants associated with type 1 diabetes.
European journal of human genetics : EJHG. 26(7):1060-1064 [DOI] 10.1038/s41431-018-0123-5. [PMID] 29491471.
2017
ATM, radiation, and the risk of second primary breast cancer.
International journal of radiation biology. 93(10):1121-1127 [DOI] 10.1080/09553002.2017.1344363. [PMID] 28627265.
2017
ChIP Technique to Study Protein Dynamics at Defined DNA Double Strand Breaks.
Methods in molecular biology (Clifton, N.J.). 1599:245-262 [DOI] 10.1007/978-1-4939-6955-5_18. [PMID] 28477124.
2017
Disease-specific biases in alternative splicing and tissue-specific dysregulation revealed by multitissue profiling of lymphocyte gene expression in type 1 diabetes.
Genome research. 27(11):1807-1815 [DOI] 10.1101/gr.217984.116. [PMID] 29025893.
2017
Genome-Wide Analysis in Brazilians Reveals Highly Differentiated Native American Genome Regions.
Molecular biology and evolution. 34(3):559-574 [DOI] 10.1093/molbev/msw249. [PMID] 28100790.
2017
Hormone receptor status of a first primary breast cancer predicts contralateral breast cancer risk in the WECARE study population.
Breast cancer research : BCR. 19(1) [DOI] 10.1186/s13058-017-0874-x. [PMID] 28724391.
2017
The A946T variant of the RNA sensor IFIH1 mediates an interferon program that limits viral infection but increases the risk for autoimmunity.
Nature immunology. 18(7):744-752 [DOI] 10.1038/ni.3766. [PMID] 28553952.
2017
UBASH3A Mediates Risk for Type 1 Diabetes Through Inhibition of T-Cell Receptor-Induced NF-κB Signaling.
Diabetes. 66(7):2033-2043 [DOI] 10.2337/db16-1023. [PMID] 28607106.
2016
Systematic Evaluation of Genes and Genetic Variants Associated with Type 1 Diabetes Susceptibility.
Journal of immunology (Baltimore, Md. : 1950). 196(7):3043-53 [DOI] 10.4049/jimmunol.1502056. [PMID] 26912320.
2016
Systemic Therapy for Breast Cancer and Risk of Subsequent Contralateral Breast Cancer in the Wecare Study
Breast Cancer Research. 18(1) [DOI] 10.1186/s13058-016-0726-0. [PMID] 27400983.
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. 65(3):794-802 [DOI] 10.2337/db15-0322. [PMID] 26631741.
2015
ATM-dependent phosphorylation of MRE11 controls extent of resection during homology directed repair by signalling through Exonuclease 1.
Nucleic acids research. 43(17):8352-67 [DOI] 10.1093/nar/gkv754. [PMID] 26240375.
2015
Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer.
Carcinogenesis. 36(11):1341-53 [DOI] 10.1093/carcin/bgv138. [PMID] 26424751.
2015
Effects of type 1 diabetes-associated IFIH1 polymorphisms on MDA5 function and expression.
Current diabetes reports. 15(11) [DOI] 10.1007/s11892-015-0656-8. [PMID] 26385483.
2015
Genetic and epigenetic variation in the lineage specification of regulatory T cells.
eLife. 4 [DOI] 10.7554/eLife.07571. [PMID] 26510014.
2015
Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
Nature genetics. 47(2):164-71 [DOI] 10.1038/ng.3185. [PMID] 25581431.
2015
Novel Association Between Immune-Mediated Susceptibility Loci and Persistent Autoantibody Positivity in Type 1 Diabetes.
Diabetes. 64(8):3017-27 [DOI] 10.2337/db14-1730. [PMID] 25829454.
2015
Role of Type 1 Diabetes-Associated SNPs on Autoantibody Positivity in the Type 1 Diabetes Genetics Consortium: Overview.
Diabetes care. 38 Suppl 2:S1-3 [DOI] 10.2337/dcs15-2001. [PMID] 26405066.
2015
Summary of the Type 1 Diabetes Genetics Consortium Autoantibody Workshop.
Diabetes care. 38 Suppl 2:S45-8 [DOI] 10.2337/dcs15-2008. [PMID] 26405072.
2014
A hybrid qPCR/SNP array approach allows cost efficient assessment of KIR gene copy numbers in large samples.
BMC genomics. 15 [DOI] 10.1186/1471-2164-15-274. [PMID] 24720548.
2014
A method for gene-based pathway analysis using genomewide association study summary statistics reveals nine new type 1 diabetes associations.
Genetic epidemiology. 38(8):661-70 [DOI] 10.1002/gepi.21853. [PMID] 25371288.
2014
Breast-Cancer Risk in Families With Mutations in Palb2 Editorial Comment
Obstetrical & Gynecological Survey. 69(11):659-660 [DOI] 10.1097/OGX.0000000000000118.
2014
Breast-cancer risk in families with mutations in PALB2.
The New England journal of medicine. 371(6):497-506 [DOI] 10.1056/NEJMoa1400382. [PMID] 25099575.
2014
CTSH regulates β-cell function and disease progression in newly diagnosed type 1 diabetes patients.
Proceedings of the National Academy of Sciences of the United States of America. 111(28):10305-10 [DOI] 10.1073/pnas.1402571111. [PMID] 24982147.
2014
Fine mapping and functional studies of risk variants for type 1 diabetes at chromosome 16p13.13.
Diabetes. 63(12):4360-8 [DOI] 10.2337/db13-1785. [PMID] 25008175.
2014
HLA-DRB1*07:01 is associated with a higher risk of asparaginase allergies.
Blood. 124(8):1266-76 [DOI] 10.1182/blood-2014-03-563742. [PMID] 24970932.
2014
Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks.
Cell death & disease. 5 [DOI] 10.1038/cddis.2014.99. [PMID] 24651433.
2014
Role of leptin-mediated colonic inflammation in defense against Clostridium difficile colitis.
Infection and immunity. 82(1):341-9 [DOI] 10.1128/IAI.00972-13. [PMID] 24166957.
2013
Common variants in genes coding for chemotherapy metabolizing enzymes, transporters, and targets: a case-control study of contralateral breast cancer risk in the WECARE Study.
Cancer causes & control : CCC. 24(8):1605-14 [DOI] 10.1007/s10552-013-0237-6. [PMID] 23775025.
2013
Contralateral breast cancer after radiotherapy among BRCA1 and BRCA2 mutation carriers: a WECARE study report.
European journal of cancer (Oxford, England : 1990). 49(14):2979-85 [DOI] 10.1016/j.ejca.2013.04.028. [PMID] 23706288.
2013
Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.
Nature genetics. 45(6):664-9 [DOI] 10.1038/ng.2614. [PMID] 23603761.
2013
Gut microbiomes of Malawian twin pairs discordant for kwashiorkor.
Science (New York, N.Y.). 339(6119):548-54 [DOI] 10.1126/science.1229000. [PMID] 23363771.
2013
ImmunoChip study implicates antigen presentation to T cells in narcolepsy.
PLoS genetics. 9(2) [DOI] 10.1371/journal.pgen.1003270. [PMID] 23459209.
2013
NBN phosphorylation regulates the accumulation of MRN and ATM at sites of DNA double-strand breaks.
Oncogene. 32(37):4448-56 [DOI] 10.1038/onc.2012.443. [PMID] 23146902.
2013
Risk of asynchronous contralateral breast cancer in noncarriers of BRCA1 and BRCA2 mutations with a family history of breast cancer: a report from the Women’s Environmental Cancer and Radiation Epidemiology Study.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 31(4):433-9 [DOI] 10.1200/JCO.2012.43.2013. [PMID] 23269995.
2013
Variants in tamoxifen metabolizing genes: a case-control study of contralateral breast cancer risk in the WECARE study.
International journal of molecular epidemiology and genetics. 4(1):35-48 [PMID] 23565321.
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2012
Comprehensive profiling of radiosensitive human cell lines with DNA damage response assays identifies the neutral comet assay as a potential surrogate for clonogenic survival.
Radiation research. 177(2):176-86 [PMID] 21962002.
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2012
Confirmation of novel type 1 diabetes risk loci in families.
Diabetologia. 55(4):996-1000 [DOI] 10.1007/s00125-012-2450-3. [PMID] 22278338.
2012
Evidence for two independent associations with type 1 diabetes at the 12q13 locus.
Genes and immunity. 13(1):66-70 [DOI] 10.1038/gene.2011.56. [PMID] 21850031.
2012
Evidence of gene-gene interaction and age-at-diagnosis effects in type 1 diabetes.
Diabetes. 61(11):3012-7 [DOI] 10.2337/db11-1694. [PMID] 22891215.
2012
High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.
Nature genetics. 44(12):1336-40 [DOI] 10.1038/ng.2462. [PMID] 23143596.
2012
Rare germline mutations in PALB2 and breast cancer risk: a population-based study.
Human mutation. 33(4):674-80 [DOI] 10.1002/humu.22022. [PMID] 22241545.
2012
Variants in activators and downstream targets of ATM, radiation exposure, and contralateral breast cancer risk in the WECARE study.
Human mutation. 33(1):158-64 [DOI] 10.1002/humu.21604. [PMID] 21898661.
2012
Variation in genes related to obesity, weight, and weight change and risk of contralateral breast cancer in the WECARE Study population.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 21(12):2261-7 [DOI] 10.1158/1055-9965.EPI-12-1036. [PMID] 23033454.
2011
Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.
Genetic epidemiology. 35(5):389-97 [DOI] 10.1002/gepi.20587. [PMID] 21520273.
2011
Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry.
Nature genetics. 44(1):3-5 [DOI] 10.1038/ng.1037. [PMID] 22200769.
2011
Risk of contralateral breast cancer associated with common variants in BRCA1 and BRCA2: potential modifying effect of BRCA1/BRCA2 mutation carrier status.
Breast cancer research and treatment. 127(3):819-29 [DOI] 10.1007/s10549-010-1285-1. [PMID] 21161372.
2011
Single nucleotide polymorphisms associated with risk for contralateral breast cancer in the Women’s Environment, Cancer, and Radiation Epidemiology (WECARE) Study.
Breast cancer research : BCR. 13(6) [DOI] 10.1186/bcr3057. [PMID] 22087758.
2010
Adjuvant systemic therapy for breast cancer in BRCA1/BRCA2 mutation carriers in a population-based study of risk of contralateral breast cancer.
Breast cancer research and treatment. 123(2):491-8 [DOI] 10.1007/s10549-010-0769-3. [PMID] 20135344.
2010
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
Human mutation. 31(3):E1200-40 [DOI] 10.1002/humu.21202. [PMID] 20104584.
2010
Genetics of type 1 diabetes: what’s next?
Diabetes. 59(7):1561-71 [DOI] 10.2337/db10-0076. [PMID] 20587799.
2010
HLA class I and genetic susceptibility to type 1 diabetes: results from the Type 1 Diabetes Genetics Consortium.
Diabetes. 59(11):2972-9 [DOI] 10.2337/db10-0699. [PMID] 20798335.
2010
Oral contraceptives and postmenopausal hormones and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers and noncarriers: the WECARE Study.
Breast cancer research and treatment. 120(1):175-83 [DOI] 10.1007/s10549-009-0455-5. [PMID] 19597986.
2010
Population-based study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 28(14):2404-10 [DOI] 10.1200/JCO.2009.24.2495. [PMID] 20368571.
2010
Radiation exposure, the ATM Gene, and contralateral breast cancer in the women’s environmental cancer and radiation epidemiology study.
Journal of the National Cancer Institute. 102(7):475-83 [DOI] 10.1093/jnci/djq055. [PMID] 20305132.
2010
Reproductive factors and risk of contralateral breast cancer by BRCA1 and BRCA2 mutation status: results from the WECARE study.
Cancer causes & control : CCC. 21(6):839-46 [DOI] 10.1007/s10552-010-9510-0. [PMID] 20130978.
2009
Current status and the future for the genetics of type I diabetes.
Genes and immunity. 10 Suppl 1:S128-31 [DOI] 10.1038/gene.2009.100. [PMID] 19956094.
2009
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
Human mutation. 30(1):12-21 [DOI] 10.1002/humu.20805. [PMID] 18634022.
2009
Genetics of type 1A diabetes.
The New England journal of medicine. 360(16):1646-54 [DOI] 10.1056/NEJMra0808284. [PMID] 19369670.
2009
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
Nature genetics. 41(6):703-7 [DOI] 10.1038/ng.381. [PMID] 19430480.
2009
Genome-wide scan for linkage to type 1 diabetes in 2,496 multiplex families from the Type 1 Diabetes Genetics Consortium.
Diabetes. 58(4):1018-22 [DOI] 10.2337/db08-1551. [PMID] 19136655.
2009
Nuclear export of NBN is required for normal cellular responses to radiation.
Molecular and cellular biology. 29(4):1000-6 [DOI] 10.1128/MCB.01131-08. [PMID] 19075003.
2009
Overview of the Type I Diabetes Genetics Consortium.
Genes and immunity. 10 Suppl 1:S1-4 [DOI] 10.1038/gene.2009.84. [PMID] 19956093.
2009
Recent progress in the genetics of diabetes.
Hormone research. 71 Suppl 1:17-23 [DOI] 10.1159/000178031. [PMID] 19153499.
2009
Results of the MHC fine mapping workshop.
Diabetes, obesity & metabolism. 11 Suppl 1:108-9 [DOI] 10.1111/j.1463-1326.2008.01011.x. [PMID] 19143823.
2009
rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype.
Genes and immunity. 10 Suppl 1:S21-6 [DOI] 10.1038/gene.2009.87. [PMID] 19956096.
2009
The Type I Diabetes Genetics Consortium ‘Rapid Response’ family-based candidate gene study: strategy, genes selection, and main outcome.
Genes and immunity. 10 Suppl 1:S121-7 [DOI] 10.1038/gene.2009.99. [PMID] 19956109.
2008
A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3.
Diabetes. 57(10):2858-61 [DOI] 10.2337/db08-0753. [PMID] 18647951.
2008
Endogenous hSNM1B/Apollo interacts with TRF2 and stimulates ATM in response to ionizing radiation.
DNA repair. 7(8):1192-201 [DOI] 10.1016/j.dnarep.2008.03.020. [PMID] 18468965.
2008
HLA DR-DQ haplotypes and genotypes and type 1 diabetes risk: analysis of the type 1 diabetes genetics consortium families.
Diabetes. 57(4):1084-92 [DOI] 10.2337/db07-1331. [PMID] 18252895.
2008
Rapid screen for truncating ATM mutations by PTT-ELISA.
Mutation research. 640(1-2):139-44 [DOI] 10.1016/j.mrfmmm.2008.01.002. [PMID] 18321536.
2008
Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1.
Human molecular genetics. 17(20):3247-53 [DOI] 10.1093/hmg/ddn220. [PMID] 18664457.
2008
Risk for contralateral breast cancer among carriers of the CHEK2*1100delC mutation in the WECARE Study.
British journal of cancer. 98(4):728-33 [DOI] 10.1038/sj.bjc.6604228. [PMID] 18253122.
2008
Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.
Cancer research. 68(16):6486-91 [DOI] 10.1158/0008-5472.CAN-08-0134. [PMID] 18701470.
2008
Variation of breast cancer risk among BRCA1/2 carriers.
JAMA. 299(2):194-201 [DOI] 10.1001/jama.2007.55-a. [PMID] 18182601.
2007
14th International HLA and Immunogenetics Workshop: report on the HLA component of type 1 diabetes.
Tissue antigens. 69 Suppl 1:214-25 [PMID] 17445204.
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2007
Genetic variation in PTPN22 corresponds to altered function of T and B lymphocytes.
Journal of immunology (Baltimore, Md. : 1950). 179(7):4704-10 [PMID] 17878369.
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2006
A haplotype-based analysis of the PTPN22 locus in type 1 diabetes.
Diabetes. 55(10):2883-9 [PMID] 17003357.
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2006
Active role for nibrin in the kinetics of atm activation.
Molecular and cellular biology. 26(5):1691-9 [PMID] 16478990.
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2006
ATR-dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling.
The EMBO journal. 25(24):5775-82 [PMID] 17124492.
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2006
On the proposed association of the ATM variants 5557G>A and IVS38-8T>C and bilateral breast cancer.
International journal of cancer. 119(3):724-5 [PMID] 16496408.
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2006
Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry.
Human mutation. 27(11):1122-8 [PMID] 16958054.
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2006
Recent advances in the immunogenetics of human type 1 diabetes.
Current opinion in immunology. 18(5):634-8 [PMID] 16884898.
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2006
The CHEK2*1100delC allelic variant and risk of breast cancer: screening results from the Breast Cancer Family Registry.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 15(2):348-52 [PMID] 16492927.
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2006
The Type 1 Diabetes Genetics Consortium.
Annals of the New York Academy of Sciences. 1079:1-8 [PMID] 17130525.
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2005
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
American journal of medical genetics. Part A. 137A(3):283-7 [PMID] 16088910.
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2005
ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.
Annals of human genetics. 69(Pt 6):657-64 [PMID] 16266405.
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2005
DNA-dependent protein kinase and XRCC4-DNA ligase IV mobilization in the cell in response to DNA double strand breaks.
The Journal of biological chemistry. 280(8):7060-9 [PMID] 15520013.
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2005
Extended DR3-D6S273-HLA-B haplotypes are associated with increased susceptibility to type 1 diabetes in US Caucasians.
Tissue antigens. 65(1):115-9 [PMID] 15663750.
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2005
Functional variants in SUMO4, TAB2, and NFkappaB and the risk of type 1 diabetes.
Genes and immunity. 6(3):231-5 [PMID] 15729364.
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2005
Multi-center screening of mutations in the ATM gene among women with breast cancer – the WECARE Study.
Radiation research. 163(6):698-9 [PMID] 16044499.
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2005
The genetics of type 1 diabetes: lessons learned and future challenges.
Journal of autoimmunity. 25 Suppl:34-9 [PMID] 16263245.
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2005
Type 1 diabetes: evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex families.
Diabetes. 54(10):2995-3001 [PMID] 16186404.
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2004
A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated with type I diabetes in multiplex families.
Genes and immunity. 5(8):678-80 [PMID] 15526003.
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2004
A functional variant of IRS1 is associated with type 1 diabetes in families from the US and UK.
Molecular genetics and metabolism. 81(4):291-4 [PMID] 15059616.
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2004
An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome.
DNA repair. 3(8-9):1227-35 [PMID] 15279811.
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2004
Human SNM1B is required for normal cellular response to both DNA interstrand crosslink-inducing agents and ionizing radiation.
Oncogene. 23(53):8611-8 [PMID] 15467758.
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2004
Independent roles for nibrin and Mre11-Rad50 in the activation and function of Atm.
The Journal of biological chemistry. 279(37):38813-9 [PMID] 15234984.
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2004
Polymorphic variation in the CBLB gene in human type 1 diabetes.
Genes and immunity. 5(3):232-5 [PMID] 14961073.
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2004
Remapping the insulin gene/IDDM2 locus in type 1 diabetes.
Diabetes. 53(7):1884-9 [PMID] 15220214.
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2004
Study design: evaluating gene-environment interactions in the etiology of breast cancer – the WECARE study.
Breast cancer research : BCR. 6(3):R199-214 [PMID] 15084244.
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2003
ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer.
British journal of cancer. 89(8):1513-6 [PMID] 14562025.
View on: PubMed
2003
Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer.
Human mutation. 21(5):542-50 [PMID] 12673797.
View on: PubMed
2003
Functional delivery of large genomic DNA to human cells with a peptide-lipid vector.
The journal of gene medicine. 5(10):883-892 [DOI] 10.1002/jgm.420. [PMID] 14533197.
2003
Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression.
Molecular genetics and metabolism. 80(4):437-43 [PMID] 14654357.
View on: PubMed
2003
Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome.
Journal of pediatric hematology/oncology. 25(3):248-51 [PMID] 12621246.
View on: PubMed
2003
Nibrin forkhead-associated domain and breast cancer C-terminal domain are both required for nuclear focus formation and phosphorylation.
The Journal of biological chemistry. 278(24):21944-51 [PMID] 12679336.
View on: PubMed
2002
ATM heterozygosity and cancer risk.
Nature genetics. 32(1):89-90 [PMID] 12205473.
View on: PubMed
2002
Challenges and strategies for investigating the genetic complexity of common human diseases.
Diabetes. 51 Suppl 3:S288-94 [PMID] 12475765.
View on: PubMed
2002
Complementarity-determining region 1 sequence requirements drive limited V alpha usage in response to influenza hemagglutinin 307-319 peptide.
Journal of immunology (Baltimore, Md. : 1950). 168(8):3894-901 [PMID] 11937544.
View on: PubMed
2002
Linkage and association with type 1 diabetes on chromosome 1q42.
Diabetes. 51(11):3318-25 [PMID] 12401725.
View on: PubMed
2002
Mapping genes for autoimmunity in humans: type 1 diabetes as a model.
Immunological reviews. 190:182-94 [PMID] 12493015.
View on: PubMed
2002
Mutations and molecular variants of the NBS1 gene in non-Hodgkin lymphoma.
Genes, chromosomes & cancer. 35(3):282-6 [PMID] 12353271.
View on: PubMed
2002
Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families.
The Journal of pediatrics. 140(3):355-61 [PMID] 11953735.
View on: PubMed
2002
Parameters for reliable results in genetic association studies in common disease.
Nature genetics. 30(2):149-50 [PMID] 11799396.
View on: PubMed
2001
Chk2 activation dependence on Nbs1 after DNA damage.
Molecular and cellular biology. 21(15):5214-22 [PMID] 11438675.
View on: PubMed
2001
Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localization.
Molecular and cellular biology. 21(6):2184-91 [PMID] 11238951.
View on: PubMed
2001
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
Molecular cell. 8(6):1175-85 [PMID] 11779494.
View on: PubMed
2001
Etoposide and adriamycin but not genistein can activate the checkpoint kinase Chk2 independently of ATM/ATR.
Biochemical and biophysical research communications. 289(5):1199-204 [PMID] 11741320.
View on: PubMed
2001
Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history.
Cancer. 92(3):479-87 [PMID] 11505391.
View on: PubMed
2001
Linkage studies of SOX13, the ICA12 autoantigen gene, in families with type 1 diabetes.
Molecular genetics and metabolism. 72(4):356-9 [PMID] 11286511.
View on: PubMed
2001
Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1.
Journal of medical genetics. 38(6) [PMID] 11389166.
View on: PubMed
2001
Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families.
American journal of human genetics. 69(4):820-30 [PMID] 11507694.
View on: PubMed
2000
ATM-dependent phosphorylation of nibrin in response to radiation exposure.
Nature genetics. 25(1):115-9 [PMID] 10802669.
View on: PubMed
2000
Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus.
Nature genetics. 26(2):163-75 [PMID] 11017071.
View on: PubMed
2000
Retroviral expression of the NBS1 gene in cultured Nijmegen breakage syndrome cells restores normal radiation sensitivity and nuclear focus formation.
Mutagenesis. 15(3):281-6 [PMID] 10792024.
View on: PubMed
2000
The role of X-chromosome inactivation in female predisposition to autoimmunity.
Arthritis research. 2(5):399-406 [PMID] 11056674.
View on: PubMed
2000
V(D)J rearrangement in Nijmegen breakage syndrome.
Molecular immunology. 37(18):1131-9 [PMID] 11451418.
View on: PubMed
1999
Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations.
Molecular genetics and metabolism. 68(4):419-23 [PMID] 10607471.
View on: PubMed
1999
Eighth International Workshop on Ataxia-Telangiectasia (ATW8).
Cancer research. 59(15):3845-9 [PMID] 10447004.
View on: PubMed
1999
Identification, characterization, and mapping of a mouse homolog of the gene mutated in Nijmegen breakage syndrome.
Cytogenetics and cell genetics. 87(1-2):80-4 [PMID] 10640816.
View on: PubMed
1999
Loci on chromosomes 2 (NIDDM1) and 15 interact to increase susceptibility to diabetes in Mexican Americans.
Nature genetics. 21(2):213-5 [PMID] 9988276.
View on: PubMed
1999
Physical map of the region surrounding the ataxia-telangiectasia gene on human chromosome 11q22-23.
Neuropediatrics. 30(4):176-80 [PMID] 10569208.
View on: PubMed
1999
Regulated genomic instability and neoplasia in the lymphoid lineage.
Blood. 94(12):3997-4010 [PMID] 10590043.
View on: PubMed
1999
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
American journal of human genetics. 64(6):1617-31 [PMID] 10330348.
View on: PubMed
1999
Systematic mutagenesis of TCR complementarity-determining region 3 residues: a single conservative substitution dramatically improves response to both multiple HLA-DR alleles and peptide variants.
Journal of immunology (Baltimore, Md. : 1950). 163(9):4946-52 [PMID] 10528198.
View on: PubMed
1998
A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus.
Nature genetics. 19(3):292-6 [PMID] 9662408.
View on: PubMed
1998
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.
American journal of human genetics. 62(1):86-97 [PMID] 9443866.
View on: PubMed
1998
Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype.
American journal of human genetics. 63(1):125-34 [PMID] 9634525.
View on: PubMed
1998
MAGE Xp-2: a member of the MAGE gene family isolated from an expression library using systemic lupus erythematosus sera.
Molecular genetics and metabolism. 63(1):3-13 [PMID] 9538511.
View on: PubMed
1998
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.
Cell. 93(3):467-76 [PMID] 9590180.
View on: PubMed
1998
Protein kinase mutants of human ATR increase sensitivity to UV and ionizing radiation and abrogate cell cycle checkpoint control.
Proceedings of the National Academy of Sciences of the United States of America. 95(13):7445-50 [PMID] 9636169.
View on: PubMed
1997
CAND3: a ubiquitously expressed gene immediately adjacent and in opposite transcriptional orientation to the ATM gene at 11q23.1.
Mammalian genome : official journal of the International Mammalian Genome Society. 8(2):129-33 [PMID] 9060412.
View on: PubMed
1997
CAND3: A ubiquitously expressed gene immediately adjacent and in opposite transcriptional orientation to the ATM gene at 1lq23.1.
Mammalian genome : official journal of the International Mammalian Genome Society. 8(2):129-33 [DOI] 10.1007/s003359900371. [PMID] 27518307.
1997
Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia.
Human mutation. 10(2):100-7 [PMID] 9259193.
View on: PubMed
1996
A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2.
Nature genetics. 13(2):161-6 [PMID] 8640221.
View on: PubMed
1996
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.
American journal of human genetics. 59(4):839-46 [PMID] 8808599.
View on: PubMed
1996
An approach for identifying simple sequence repeat DNA polymorphisms near cloned cDNAs and genes. Linkage studies of the islet amyloid polypeptide/amylin and liver glycogen synthase genes and NIDDM.
Diabetes. 45(3):291-4 [PMID] 8593932.
View on: PubMed
1996
Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.
American journal of human genetics. 59(1):40-4 [PMID] 8659541.
View on: PubMed
1996
Searching for NIDDM susceptibility genes: studies of genes with triplet repeats expressed in skeletal muscle.
Diabetologia. 39(6):725-30 [PMID] 8781769.
View on: PubMed
1995
Human T-cell receptor V beta gene polymorphism and multiple sclerosis.
American journal of human genetics. 56(4):963-9 [PMID] 7717407.
View on: PubMed
1995
Identification of microsatellite markers near the human ob gene and linkage studies in NIDDM-affected sib pairs.
Diabetes. 44(8):999-1001 [PMID] 7622007.
View on: PubMed
1995
Isolation of a cDNA clone encoding a KATP channel-like protein expressed in insulin-secreting cells, localization of the human gene to chromosome band 21q22.1, and linkage studies with NIDDM.
Diabetes. 44(5):592-6 [PMID] 7729621.
View on: PubMed
1995
Linkage and association between insulin-dependent diabetes mellitus (IDDM) susceptibility and markers near the glucokinase gene on chromosome 7.
Nature genetics. 10(2):240-2 [PMID] 7663523.
View on: PubMed
1995
Linkage and association studies in insulin-dependent diabetes with a new dinucleotide repeat polymorphism at the GAD65 locus.
Autoimmunity. 21(2):127-30 [PMID] 8679901.
View on: PubMed
1995
Localization of an ataxia-telangiectasia gene to an approximately 500-kb interval on chromosome 11q23.1: linkage analysis of 176 families by an international consortium.
American journal of human genetics. 57(1):112-9 [PMID] 7611279.
View on: PubMed
1994
A pulsed-field gel electrophoresis map in the ataxia-telangiectasia region of chromosome 11q22.3.
Genomics. 20(2):278-80 [PMID] 8020976.
View on: PubMed
1994
Genetic haplotyping of ataxia-telangiectasia families localizes the major gene to an approximately 850 kb region on chromosome 11q23.1.
International journal of radiation biology. 66(6 Suppl):S57-62 [PMID] 7836853.
View on: PubMed
1994
Influence of coding region polymorphism on the peripheral expression of a human TCR V beta gene.
Journal of immunology (Baltimore, Md. : 1950). 152(3):1222-7 [PMID] 8301127.
View on: PubMed
1994
Level of human TCRBV3S1 (V beta 3) expression correlates with allelic polymorphism in the spacer region of the recombination signal sequence.
The Journal of experimental medicine. 179(5):1707-11 [PMID] 8163948.
View on: PubMed
1994
T-cell receptor polymorphisms in Tlingit Indians with rheumatoid arthritis.
Autoimmunity. 19(4):247-51 [PMID] 7578851.
View on: PubMed
1993
T cell receptor antagonism mediated by interaction between T cell receptor junctional residues and peptide antigen analogues.
Journal of immunology (Baltimore, Md. : 1950). 150(10):4277-83 [PMID] 8482836.
View on: PubMed
1993
The inhibition of different T cell lines specific for the same antigen with TCR antagonist peptides.
Journal of immunology (Baltimore, Md. : 1950). 151(12):6815-21 [PMID] 7505016.
View on: PubMed
1992
Ataxia-telangiectasia: linkage analysis of chromosome 11q22-23 markers in Turkish families.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 6(10):2848-52 [PMID] 1634048.
View on: PubMed
1992
Variability in T cell receptor V beta gene usage in human peripheral blood lymphocytes. Studies of identical twins, siblings, and insulin-dependent diabetes mellitus patients.
Journal of immunology (Baltimore, Md. : 1950). 149(5):1802-8 [PMID] 1387153.
View on: PubMed
1991
Further localization of a multiple sclerosis susceptibility gene on chromosome 7q using a new T cell receptor beta-chain DNA polymorphism.
Journal of neuroimmunology. 32(3):231-40 [PMID] 1674514.
View on: PubMed
1991
HLA and T cell receptor polymorphisms in pauciarticular-onset juvenile rheumatoid arthritis.
Arthritis and rheumatism. 34(10):1260-7 [PMID] 1930315.
View on: PubMed
1991
Human T-cell receptor V alpha gene polymorphism.
Human immunology. 32(4):277-83 [PMID] 1686027.
View on: PubMed
1991
Localization of an ataxia-telangiectasia locus to a 3-cM interval on chromosome 11q23: linkage analysis of 111 families by an international consortium.
American journal of human genetics. 49(6):1263-79 [PMID] 1746555.
View on: PubMed
1990
A primary linkage map of the human chromosome 11q22-23 region.
Genomics. 6(2):316-23 [PMID] 2307473.
View on: PubMed
1990
An anonymous marker [HGM provisional #D11S415] maps to human chromosome 11 near the catalase (CAT) gene.
Nucleic acids research. 18(2) [PMID] 1970166.
View on: PubMed
1990
Further mapping of an ataxia-telangiectasia locus to the chromosome 11q23 region.
American journal of human genetics. 47(5):860-6 [PMID] 2220826.
View on: PubMed
1990
Haplotyping the human T-cell receptor beta-chain gene complex by use of restriction fragment length polymorphisms.
Proceedings of the National Academy of Sciences of the United States of America. 87(12):4823-7 [PMID] 1972281.
View on: PubMed
1990
T-cell receptor beta-chain DNA polymorphism frequencies in healthy HLA-DR homozygotes.
Tissue antigens. 35(4):157-64 [PMID] 2371713.
View on: PubMed
1990
T-cell receptor genes and insulin-dependent diabetes mellitus (IDDM): no evidence for linkage from affected sib pairs.
American journal of human genetics. 47(1):45-52 [PMID] 1971998.
View on: PubMed
1990
The ataxia-telangiectasia gene (ATA) on chromosome II is distinct from the ETS-1 gene.
American journal of human genetics. 46(4):789-94 [PMID] 1969227.
View on: PubMed
1989
Human T-cell receptor CD3-delta (CD3D)/MspI DNA polymorphism.
Nucleic acids research. 17(6) [PMID] 2468134.
View on: PubMed
1989
Human T-cell receptor CD3-gamma (CD3G)/MspI DNA polymorphism.
Nucleic acids research. 17(6) [PMID] 2468133.
View on: PubMed
1989
Isolation and mapping of a polymorphic DNA sequence pH30 on chromosome 4[HGM provisional no. D4S139].
Nucleic acids research. 17(10) [PMID] 2567502.
View on: PubMed
1989
Nucleotide sequence of a uniquely expressed human T cell receptor beta chain variable region gene (V beta) in Sjogren’s syndrome.
Nucleic acids research. 17(1) [PMID] 2911483.
View on: PubMed
1989
The germline repertoire of T cell receptor beta-chain genes in patients with chronic progressive multiple sclerosis.
Journal of neuroimmunology. 21(1):59-66 [PMID] 2562801.
View on: PubMed
1989
The germline repertoire of T-cell receptor beta-chain genes in patients with multiple sclerosis.
Research in immunology. 140(2):212-5; discussion 245 [PMID] 2525795.
View on: PubMed
1989
Use of deoxyribonucleic acid probes in the identification of cell origin and detection of cellular contamination in human lymphoblastoid cell lines.
Laboratory investigation; a journal of technical methods and pathology. 60(3):347-52 [PMID] 2784517.
View on: PubMed
1988
Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.
Nature. 336(6199):577-80 [PMID] 3200306.
View on: PubMed
1987
Human T cell receptor V beta gene polymorphism.
The Journal of experimental medicine. 165(4):1130-40 [PMID] 2951480.
View on: PubMed
1986
Human T-cell receptor genes: organization, diversity, and polymorphism.
Cold Spring Harbor symposia on quantitative biology. 51 Pt 2:785-9 [PMID] 3472761.
View on: PubMed
1986
Structure and expression of ferritin genes in a human promyelocytic cell line that differentiates in vitro.
Molecular and cellular biology. 6(2):566-73 [PMID] 3023856.
View on: PubMed

Grants

Mar 2021 ACTIVE
Genotyping using the Affymetrix Precision Medicine Array
Role: Principal Investigator
Funding: SLOAN-KETTERING CANCER CTR via NATL INST OF HLTH NCI
Nov 2019 – Dec 2020
Modeling Genetic and Molecular Interaction Between Human Type 1 Diabetes Risk Genes and Their Products
Role: Other
Funding: JDRF
Jun 2018 ACTIVE
Immune Function and the Progression to Type 1 Diabetes
Role: Co-Investigator
Funding: NATL INST OF HLTH NIAID
Apr 2018 ACTIVE
Critical role for alternative splicing in conferring risk for type 1 diabetes
Role: Principal Investigator
Funding: NATL INST OF HLTH NIDDK
Jan 2018 ACTIVE
Training Program for Applied Research and Development in Genomic Medicine
Role: Other
Funding: NATL INST OF HLTH NHGRI
Dec 2016 – Jul 2021
Systematic identification of functional T1D-associated non-coding SNPs using genetic, transcriptomic and epigenetic methods
Role: Principal Investigator
Funding: UNIV OF VIRGINIA via NATL INST OF HLTH NIDDK
Aug 2016 ACTIVE
Development of Brassica as a low dose radiation biosensor
Role: Principal Investigator
Funding: DEFENSE THREAT REDUCTION AGENCY
Aug 2016 ACTIVE
Novel DNA damage response gene from genomic screening
Role: Principal Investigator
Funding: NATL INST OF HLTH NIEHS
May 2016 – Apr 2019
Roles of UBASH3A and its interaction with LYP in human T cells and type 1 diabetes
Role: Other
Funding: JDRF
Jan 2016 – Feb 2016
ROLES OF UBASH3A IN HUMAN T CELLS AND TYPE 1 DIABETES
Role: Principal Investigator
Funding: AMER DIABETES ASSOCIATION
Sep 2015 – Aug 2017
INTEGRATIVE ANALYSIS OF TEDDY DATA TO IMPROVE T1D DIAGNOSIS
Role: Project Manager
Funding: UNIV OF SOUTH FLORIDA TAMPA via HELMSLEY CHARITABLE TRUST, LEONA & HARRY
Jul 2015 – Apr 2020
Novel T1D risk variants from genomic analyses in high risk families
Role: Principal Investigator
Funding: NATL INST OF HLTH NIDDK
Mar 2013 – Feb 2017
Genome-wide association study of radiation exposure and bilateral breast cancer
Role: Principal Investigator
Funding: SLOAN-KETTERING CANCER CTR via NATL INST OF HLTH

Teaching Profile

Courses Taught
2018
GMS7979 Advanced Research
2018
GMS7980 Research for Doctoral Dissertation
2014
GMS6015 Human Genetics II

Contact Details

Phones:
Business:
(352) 273-8290
Emails:
Business:
patcon@ufl.edu