% Generated by scripts/import_key_publications_from_tsv.py. % Sources: .agents/raw-inputs/incoming/CV_release_2026-05-27.md and .agents/raw-inputs/incoming/Publication_list_2026-05-27.tsv. % Author markers: † indicates shared first authorship; ‡ indicates shared senior authorship; @ corresponding author. @article{immunecheckpointthyroidtoxicityprs2026, title = {Polygenic risk scores for prediction of immune checkpoint inhibitor thyroid toxicity in diverse populations}, author = {Fritsche, L. G. and Higgins, L. M. and Schipper, M. and Strohbehn, G. and McMahon, B. H. and Crivelli, S. and Dai, X. and Yoo, S. and Veterans Affairs Million Veteran Program and Vanderwerff, B. and Bertucci-Richter, E. and Elliott, D. and Green, M. D. and Bryant, A. K.}, journal = {Clinical Cancer Research}, year = {2026}, doi = {10.1158/1078-0432.CCR-26-0620}, pmid = {42240401}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {first_author} } @article{prostateprsclinicalutility2025, title = {Assessing the Clinical Utility of Published Prostate Cancer Polygenic Risk Scores in a Large Biobank Data Set}, author = {Vince R. A. Jr. and Sun H. and Singhal U. and Schumacher F. R. and Trapl E. and Rose J. and Cullen J. and Zaorsky N. and Shoag J. and Hartman H. and Jia A. Y. and Spratt D. E. and Fritsche L. G. and Morgan T. M.}, journal = {European Urology Oncology}, year = {2025}, volume = {8}, number = {1}, pages = {47-55}, doi = {10.1016/j.euo.2024.04.017}, pmid = {38734542}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {shared_senior_author}, authorrolemarkers = {‡}, markedauthors = {Vince R. A. Jr.†@; Sun H.†; Singhal U.; Schumacher F. R.; Trapl E.; Rose J.; Cullen J.; Zaorsky N.; Shoag J.; Hartman H.; Jia A. Y.; Spratt D. E.; Fritsche L. G.‡; Morgan T. M.‡} } @article{alsriskprediction2024, title = {Improving prediction models of amyotrophic lateral sclerosis (ALS) using polygenic, pre-existing conditions, and survey-based risk scores in the UK Biobank}, author = {Jin W. and Boss J. and Bakulski K. M. and Goutman S. A. and Feldman E. L. and Fritsche L. G. and Mukherjee B.}, journal = {Journal of Neurology}, year = {2024}, volume = {271}, number = {10}, pages = {6923-6934}, doi = {10.1007/s00415-024-12644-2}, pmid = {39249108}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {shared_senior_author; corresponding_author}, authorrolemarkers = {‡; @}, markedauthors = {Jin W.; Boss J.; Bakulski K. M.; Goutman S. A.; Feldman E. L.; Fritsche L. G.‡@; Mukherjee B.‡@} } @article{covidseverityprs2023, title = {Uncovering associations between pre-existing conditions and COVID-19 Severity: A polygenic risk score approach across three large biobanks}, author = {Fritsche L. G. and Nam K. and Du J. and Kundu R. and Salvatore M. and Shi X. and Lee S. and Burgess S. and Mukherjee B.}, journal = {PLOS Genetics}, year = {2023}, volume = {19}, number = {12}, pages = {e1010907}, doi = {10.1371/journal.pgen.1010907}, pmid = {38113267}, pmcid = {PMC10763941}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {first_author; corresponding_author}, authorrolemarkers = {@}, markedauthors = {Fritsche L. G.@; Nam K.; Du J.; Kundu R.; Salvatore M.; Shi X.; Lee S.; Burgess S.; Mukherjee B.@} } @article{pascprediction2023, title = {Characterizing and Predicting Post-Acute Sequelae of SARS CoV-2 Infection (PASC) in a Large Academic Medical Center in the US}, author = {Fritsche L. G. and Jin W. and Admon A. J. and Mukherjee B.}, journal = {Journal of Clinical Medicine}, year = {2023}, volume = {12}, number = {4}, doi = {10.3390/jcm12041328}, pmid = {36835863}, pmcid = {PMC9967320}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {first_author; corresponding_author}, authorrolemarkers = {@}, markedauthors = {Fritsche L. G.@; Jin W.; Admon A. J.; Mukherjee B.@} } @article{covidvaccineboosterehr2022, title = {Estimating COVID-19 Vaccination and Booster Effectiveness Using Electronic Health Records From an Academic Medical Center in Michigan}, author = {Roberts E. K. and Gu T. and Wagner A. L. and Mukherjee B. and Fritsche L. G.}, journal = {AJPM Focus}, year = {2022}, volume = {1}, number = {1}, pages = {100015}, doi = {10.1016/j.focus.2022.100015}, pmid = {36942016}, pmcid = {PMC9323299}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {last_author; corresponding_author}, authorrolemarkers = {@}, markedauthors = {Roberts E. K.; Gu T.; Wagner A. L.; Mukherjee B.@; Fritsche L. G.@} } @article{ma2022exprsweb, title = {ExPRSweb: An online repository with polygenic risk scores for common health-related exposures}, author = {Ma Y. and Patil S. and Zhou X. and Mukherjee B. and Fritsche L. G.}, journal = {American Journal of Human Genetics}, year = {2022}, volume = {109}, number = {10}, pages = {1742-1760}, doi = {10.1016/j.ajhg.2022.09.001}, pmid = {36152628}, pmcid = {PMC9606385}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {shared_senior_author; corresponding_author}, authorrolemarkers = {‡; @}, markedauthors = {Ma Y.; Patil S.; Zhou X.; Mukherjee B.‡; Fritsche L. G.‡@} } @article{covidtestingehrlinkage2022, title = {Assessing the added value of linking electronic health records to improve the prediction of self-reported COVID-19 testing and diagnosis}, author = {Clark-Boucher D. and Boss J. and Salvatore M. and Smith J. A. and Fritsche L. G. and Mukherjee B.}, journal = {PLOS ONE}, year = {2022}, volume = {17}, number = {7}, pages = {e0269017}, doi = {10.1371/journal.pone.0269017}, pmid = {35877617}, pmcid = {PMC9312965}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {shared_senior_author; corresponding_author}, authorrolemarkers = {‡; @}, markedauthors = {Clark-Boucher D.; Boss J.; Salvatore M.; Smith J. A.; Fritsche L. G.‡@; Mukherjee B.‡@} } @article{covidserologypatterns2021, title = {Understanding the Patterns of Serological Testing for COVID-19 Pre- and Post-Vaccination Rollout in Michigan}, author = {Zhao Z. and Salerno S. and Shi X. and Lee S. and Mukherjee B. and Fritsche L. G.}, journal = {Journal of Clinical Medicine}, year = {2021}, volume = {10}, number = {19}, doi = {10.3390/jcm10194341}, pmid = {34640359}, pmcid = {PMC8509702}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {shared_senior_author}, authorrolemarkers = {‡}, markedauthors = {Zhao Z.; Salerno S.; Shi X.; Lee S.; Mukherjee B.‡@; Fritsche L. G.‡} } @article{crossancestrycancerprs2021, title = {On cross-ancestry cancer polygenic risk scores}, author = {Fritsche L. G. and Ma Y. and Zhang D. and Salvatore M. and Lee S. and Zhou X. and Mukherjee B.}, journal = {PLOS Genetics}, year = {2021}, volume = {17}, number = {9}, pages = {e1009670}, doi = {10.1371/journal.pgen.1009670}, pmid = {34529658}, pmcid = {PMC8445431}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {first_author; corresponding_author}, authorrolemarkers = {@}, markedauthors = {Fritsche L. G.@; Ma Y.; Zhang D.; Salvatore M.; Lee S.; Zhou X.; Mukherjee B.} } @article{covidoutcomesovertime2021, title = {Changes in COVID-19-related outcomes, potential risk factors and disparities over time}, author = {Yu, Y. and Gu, T. and Valley, T. S. and Mukherjee, B. and Fritsche, L. G.}, journal = {Epidemiology & Infection}, year = {2021}, pmcid = {PMC8376857}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {shared_senior_author}, authorrolemarkers = {‡}, markedauthors = {Yu, Y.; Gu, T.; Valley, T. S.; Mukherjee, B.‡@; Fritsche, L. G.‡} } @article{mepebonedensity2020, title = {MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk}, author = {Surakka I. and Fritsche L. G. and Zhou W. and Backman J. and Kosmicki J. A. and Lu H. and Brumpton B. and Nielsen J. B. and Gabrielsen M. E. and Skogholt A. H. and Wolford B. and Graham S. E. and Chen Y. E. and Lee S. and Kang H. M. and Langhammer A. and Forsmo S. and Asvold B. O. and Styrkarsdottir U. and Holm H. and Gudbjartsson D. and Stefansson K. and Baras A. and Regeneron Genetics Center and Abecasis G. R. and Hveem K. and Willer C. J.}, journal = {Nature Communications}, year = {2020}, volume = {11}, number = {1}, pages = {4093}, doi = {10.1038/s41467-020-17315-0}, pmid = {33097703}, pmcid = {PMC7585430}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {shared_first_author}, authorrolemarkers = {†}, markedauthors = {Surakka I.†; Fritsche L. G.†; Zhou W.; Backman J.; Kosmicki J. A.; Lu H.; Brumpton B.; Nielsen J. B.; Gabrielsen M. E.; Skogholt A. H.; Wolford B.; Graham S. E.; Chen Y. E.; Lee S.; Kang H. M.; Langhammer A.; Forsmo S.; Asvold B. O.; Styrkarsdottir U.; Holm H.; Gudbjartsson D.; Stefansson K.; Baras A.; Regeneron Genetics Center; Abecasis G. R.; Hveem K.‡@; Willer C. J.‡@} } @article{coviddisparities2020, title = {Characteristics Associated With Racial/Ethnic Disparities in COVID-19 Outcomes in an Academic Health Care System}, author = {Gu T. and Mack J. A. and Salvatore M. and Prabhu Sankar S. and Valley T. S. and Singh K. and Nallamothu B. K. and Kheterpal S. and Lisabeth L. and Fritsche L. G. and Mukherjee B.}, journal = {JAMA Network Open}, year = {2020}, volume = {3}, number = {10}, pages = {e2025197}, doi = {10.1001/jamanetworkopen.2020.25197}, pmid = {33084902}, pmcid = {PMC7578774}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {shared_senior_author}, authorrolemarkers = {‡}, markedauthors = {Gu T.; Mack J. A.; Salvatore M.; Prabhu Sankar S.; Valley T. S.; Singh K.; Nallamothu B. K.; Kheterpal S.; Lisabeth L.; Fritsche L. G.‡; Mukherjee B.‡@} } @article{fritsche2020cancerprsweb, title = {Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks}, author = {Fritsche L. G. and Patil S. and Beesley L. J. and VandeHaar P. and Salvatore M. and Ma Y. and Peng R. B. and Taliun D. and Zhou X. and Mukherjee B.}, journal = {American Journal of Human Genetics}, year = {2020}, volume = {107}, number = {5}, pages = {815-836}, doi = {10.1016/j.ajhg.2020.08.025}, pmid = {32991828}, pmcid = {PMC7675001}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {first_author; corresponding_author}, authorrolemarkers = {@}, markedauthors = {Fritsche L. G.@; Patil S.; Beesley L. J.; VandeHaar P.; Salvatore M.; Ma Y.; Peng R. B.; Taliun D.; Zhou X.; Mukherjee B.@} } @article{fritsche2019skinprsweb, title = {Exploring various polygenic risk scores for skin cancer in the phenomes of the Michigan genomics initiative and the UK Biobank with a visual catalog: PRSWeb}, author = {Fritsche L. G. and Beesley L. J. and VandeHaar P. and Peng R. B. and Salvatore M. and Zawistowski M. and Gagliano Taliun S. A. and Das S. and LeFaive J. and Kaleba E. O. and Klumpner T. T. and Moser S. E. and Blanc V. M. and Brummett C. M. and Kheterpal S. and Abecasis G. R. and Gruber S. B. and Mukherjee B.}, journal = {PLOS Genetics}, year = {2019}, volume = {15}, number = {6}, pages = {e1008202}, doi = {10.1371/journal.pgen.1008202}, pmid = {31194742}, pmcid = {PMC6592565}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {first_author; corresponding_author}, authorrolemarkers = {@}, markedauthors = {Fritsche L. G.@; Beesley L. J.; VandeHaar P.; Peng R. B.; Salvatore M.; Zawistowski M.; Gagliano Taliun S. A.; Das S.; LeFaive J.; Kaleba E. O.; Klumpner T. T.; Moser S. E.; Blanc V. M.; Brummett C. M.; Kheterpal S.; Abecasis G. R.; Gruber S. B.; Mukherjee B.@} } @article{atrialfibrillationbiobank2018, title = {Biobank-driven genomic discovery yields new insight into atrial fibrillation biology}, author = {Nielsen J. B. and Thorolfsdottir R. B. and Fritsche L. G. and Zhou W. and Skov M. W. and Graham S. E. and Herron T. J. and McCarthy S. and Schmidt E. M. and Sveinbjornsson G. and Surakka I. and Mathis M. R. and Yamazaki M. and Crawford R. D. and Gabrielsen M. E. and Skogholt A. H. and Holmen O. L. and Lin M. and Wolford B. N. and Dey R. and Dalen H. and Sulem P. and Chung J. H. and Backman J. D. and Arnar D. O. and Thorsteinsdottir U. and Baras A. and O'Dushlaine C. and Holst A. G. and Wen X. and Hornsby W. and Dewey F. E. and Boehnke M. and Kheterpal S. and Mukherjee B. and Lee S. and Kang H. M. and Holm H. and Kitzman J. and Shavit J. A. and Jalife J. and Brummett C. M. and Teslovich T. M. and Carey D. J. and Gudbjartsson D. F. and Stefansson K. and Abecasis G. R. and Hveem K. and Willer C. J.}, journal = {Nature Genetics}, year = {2018}, volume = {50}, number = {9}, pages = {1234-1239}, doi = {10.1038/s41588-018-0171-3}, pmid = {30061737}, pmcid = {PMC6530775}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {shared_first_author}, authorrolemarkers = {†}, markedauthors = {Nielsen J. B.†; Thorolfsdottir R. B.†; Fritsche L. G.†; Zhou W.†; Skov M. W.†; Graham S. E.†; Herron T. J.†; McCarthy S.†; Schmidt E. M.†; Sveinbjornsson G.†; Surakka I.; Mathis M. R.; Yamazaki M.; Crawford R. D.; Gabrielsen M. E.; Skogholt A. H.; Holmen O. L.; Lin M.; Wolford B. N.; Dey R.; Dalen H.; Sulem P.; Chung J. H.; Backman J. D.; Arnar D. O.; Thorsteinsdottir U.; Baras A.; O'Dushlaine C.; Holst A. G.; Wen X.; Hornsby W.; Dewey F. E.; Boehnke M.; Kheterpal S.; Mukherjee B.; Lee S.; Kang H. M.; Holm H.; Kitzman J.; Shavit J. A.; Jalife J.; Brummett C. M.; Teslovich T. M.; Carey D. J.; Gudbjartsson D. F.; Stefansson K.; Abecasis G. R.‡@; Hveem K.‡@; Willer C. J.‡@} } @article{multiplecancersprsmgi2018, title = {Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative}, author = {Fritsche L. G. and Gruber S. B. and Wu Z. and Schmidt E. M. and Zawistowski M. and Moser S. E. and Blanc V. M. and Brummett C. M. and Kheterpal S. and Abecasis G. R. and Mukherjee B.}, journal = {American Journal of Human Genetics}, year = {2018}, volume = {102}, number = {6}, pages = {1048-1061}, doi = {10.1016/j.ajhg.2018.04.001}, pmid = {29779563}, pmcid = {PMC5992124}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {first_author}, markedauthors = {Fritsche L. G.; Gruber S. B.; Wu Z.; Schmidt E. M.; Zawistowski M.; Moser S. E.; Blanc V. M.; Brummett C. M.; Kheterpal S.; Abecasis G. R.; Mukherjee B.@} } @article{atrialfibrillationgwas2018, title = {Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development}, author = {Nielsen J. B. and Fritsche L. G. and Zhou W. and Teslovich T. M. and Holmen O. L. and Gustafsson S. and Gabrielsen M. E. and Schmidt E. M. and Beaumont R. and Wolford B. N. and Lin M. and Brummett C. M. and Preuss M. H. and Refsgaard L. and Bottinger E. P. and Graham S. E. and Surakka I. and Chu Y. and Skogholt A. H. and Dalen H. and Boyle A. P. and Oral H. and Herron T. J. and Kitzman J. and Jalife J. and Svendsen J. H. and Olesen M. S. and Njolstad I. and Lochen M. L. and Baras A. and Gottesman O. and Marcketta A. and O'Dushlaine C. and Ritchie M. D. and Wilsgaard T. and Loos R. J. F. and Frayling T. M. and Boehnke M. and Ingelsson E. and Carey D. J. and Dewey F. E. and Kang H. M. and Abecasis G. R. and Hveem K. and Willer C. J.}, journal = {American Journal of Human Genetics}, year = {2018}, volume = {102}, number = {1}, pages = {103-115}, doi = {10.1016/j.ajhg.2017.12.003}, pmid = {29290336}, pmcid = {PMC5777936}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {shared_first_author}, authorrolemarkers = {†}, markedauthors = {Nielsen J. B.†; Fritsche L. G.†; Zhou W.†; Teslovich T. M.; Holmen O. L.; Gustafsson S.; Gabrielsen M. E.; Schmidt E. M.; Beaumont R.; Wolford B. N.; Lin M.; Brummett C. M.; Preuss M. H.; Refsgaard L.; Bottinger E. P.; Graham S. E.; Surakka I.; Chu Y.; Skogholt A. H.; Dalen H.; Boyle A. P.; Oral H.; Herron T. J.; Kitzman J.; Jalife J.; Svendsen J. H.; Olesen M. S.; Njolstad I.; Lochen M. L.; Baras A.; Gottesman O.; Marcketta A.; O'Dushlaine C.; Ritchie M. D.; Wilsgaard T.; Loos R. J. F.; Frayling T. M.; Boehnke M.; Ingelsson E.; Carey D. J.; Dewey F. E.; Kang H. M.; Abecasis G. R.; Hveem K.‡@; Willer C. J.‡@} } @article{amdrarecommonvariants2016, title = {A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants}, author = {Fritsche L. G. and Igl W. and Bailey J. N. and Grassmann F. and Sengupta S. and Bragg-Gresham J. L. and Burdon K. P. and Hebbring S. J. and Wen C. and Gorski M. and Kim I. K. and Cho D. and Zack D. and Souied E. and Scholl H. P. and Bala E. and Lee K. E. and Hunter D. J. and Sardell R. J. and Mitchell P. and Merriam J. E. and Cipriani V. and Hoffman J. D. and Schick T. and Lechanteur Y. T. and Guymer R. H. and Johnson M. P. and Jiang Y. and Stanton C. M. and Buitendijk G. H. and Zhan X. and Kwong A. M. and Boleda A. and Brooks M. and Gieser L. and Ratnapriya R. and Branham K. E. and Foerster J. R. and Heckenlively J. R. and Othman M. I. and Vote B. J. and Liang H. H. and Souzeau E. and McAllister I. L. and Isaacs T. and Hall J. and Lake S. and Mackey D. A. and Constable I. J. and Craig J. E. and Kitchner T. E. and Yang Z. and Su Z. and Luo H. and Chen D. and Ouyang H. and Flagg K. and Lin D. and Mao G. and Ferreyra H. and Stark K. and von Strachwitz C. N. and Wolf A. and Brandl C. and Rudolph G. and Olden M. and Morrison M. A. and Morgan D. J. and Schu M. and Ahn J. and Silvestri G. and Tsironi E. E. and Park K. H. and Farrer L. A. and Orlin A. and Brucker A. and Li M. and Curcio C. A. and Mohand-Said S. and Sahel J. A. and Audo I. and Benchaboune M. and Cree A. J. and Rennie C. A. and Goverdhan S. V. and Grunin M. and Hagbi-Levi S. and Campochiaro P. and Katsanis N. and Holz F. G. and Blond F. and Blanche H. and Deleuze J. F. and Igo R. P. Jr. and Truitt B. and Peachey N. S. and Meuer S. M. and Myers C. E. and Moore E. L. and Klein R. and Hauser M. A. and Postel E. A. and Courtenay M. D. and Schwartz S. G. and Kovach J. L. and Scott W. K. and Liew G. and Tan A. G. and Gopinath B. and Merriam J. C. and Smith R. T. and Khan J. C. and Shahid H. and Moore A. T. and McGrath J. A. and Laux R. and Brantley M. A. Jr. and Agarwal A. and Ersoy L. and Caramoy A. and Langmann T. and Saksens N. T. and de Jong E. K. and Hoyng C. B. and Cain M. S. and Richardson A. J. and Martin T. M. and Blangero J. and Weeks D. E. and Dhillon B. and van Duijn C. M. and Doheny K. F. and Romm J. and Klaver C. C. and Hayward C. and Gorin M. B. and Klein M. L. and Baird P. N. and den Hollander A. I. and Fauser S. and Yates J. R. and Allikmets R. and Wang J. J. and Schaumberg D. A. and Klein B. E. and Hagstrom S. A. and Chowers I. and Lotery A. J. and Leveillard T. and Zhang K. and Brilliant M. H. and Hewitt A. W. and Swaroop A. and Chew E. Y. and Pericak-Vance M. A. and DeAngelis M. and Stambolian D. and Haines J. L. and Iyengar S. K. and Weber B. H. and Abecasis G. R. and Heid I. M.}, journal = {Nature Genetics}, year = {2016}, volume = {48}, number = {2}, pages = {134-43}, doi = {10.1038/ng.3448}, pmid = {26691988}, pmcid = {PMC4745342}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {shared_first_author}, authorrolemarkers = {†}, markedauthors = {Fritsche L. G.†; Igl W.†; Bailey J. N.†; Grassmann F.†; Sengupta S.†; Bragg-Gresham J. L.; Burdon K. P.; Hebbring S. J.; Wen C.; Gorski M.; Kim I. K.; Cho D.; Zack D.; Souied E.; Scholl H. P.; Bala E.; Lee K. E.; Hunter D. J.; Sardell R. J.; Mitchell P.; Merriam J. E.; Cipriani V.; Hoffman J. D.; Schick T.; Lechanteur Y. T.; Guymer R. H.; Johnson M. P.; Jiang Y.; Stanton C. M.; Buitendijk G. H.; Zhan X.; Kwong A. M.; Boleda A.; Brooks M.; Gieser L.; Ratnapriya R.; Branham K. E.; Foerster J. R.; Heckenlively J. R.; Othman M. I.; Vote B. J.; Liang H. H.; Souzeau E.; McAllister I. L.; Isaacs T.; Hall J.; Lake S.; Mackey D. A.; Constable I. J.; Craig J. E.; Kitchner T. E.; Yang Z.; Su Z.; Luo H.; Chen D.; Ouyang H.; Flagg K.; Lin D.; Mao G.; Ferreyra H.; Stark K.; von Strachwitz C. N.; Wolf A.; Brandl C.; Rudolph G.; Olden M.; Morrison M. A.; Morgan D. J.; Schu M.; Ahn J.; Silvestri G.; Tsironi E. E.; Park K. H.; Farrer L. A.; Orlin A.; Brucker A.; Li M.; Curcio C. A.; Mohand-Said S.; Sahel J. A.; Audo I.; Benchaboune M.; Cree A. J.; Rennie C. A.; Goverdhan S. V.; Grunin M.; Hagbi-Levi S.; Campochiaro P.; Katsanis N.; Holz F. G.; Blond F.; Blanche H.; Deleuze J. F.; Igo R. P. Jr.; Truitt B.; Peachey N. S.; Meuer S. M.; Myers C. E.; Moore E. L.; Klein R.; Hauser M. A.; Postel E. A.; Courtenay M. D.; Schwartz S. G.; Kovach J. L.; Scott W. K.; Liew G.; Tan A. G.; Gopinath B.; Merriam J. C.; Smith R. T.; Khan J. C.; Shahid H.; Moore A. T.; McGrath J. A.; Laux R.; Brantley M. A. Jr.; Agarwal A.; Ersoy L.; Caramoy A.; Langmann T.; Saksens N. T.; de Jong E. K.; Hoyng C. B.; Cain M. S.; Richardson A. J.; Martin T. M.; Blangero J.; Weeks D. E.; Dhillon B.; van Duijn C. M.; Doheny K. F.; Romm J.; Klaver C. C.; Hayward C.; Gorin M. B.; Klein M. L.; Baird P. N.; den Hollander A. I.; Fauser S.; Yates J. R.; Allikmets R.; Wang J. J.; Schaumberg D. A.; Klein B. E.; Hagstrom S. A.; Chowers I.; Lotery A. J.; Leveillard T.; Zhang K.; Brilliant M. H.; Hewitt A. W.; Swaroop A.; Chew E. Y.; Pericak-Vance M. A.; DeAngelis M.; Stambolian D.; Haines J. L.; Iyengar S. K.‡@; Weber B. H.; Abecasis G. R.‡@; Heid I. M.‡@} } @article{amdgeneticsbiology2014, title = {Age-related macular degeneration: genetics and biology coming together}, author = {Fritsche L. G. and Fariss R. N. and Stambolian D. and Abecasis G. R. and Curcio C. A. and Swaroop A.}, journal = {Annual Review of Genomics and Human Genetics}, year = {2014}, volume = {15}, pages = {151-71}, doi = {10.1146/annurev-genom-090413-025610}, pmid = {24773320}, pmcid = {PMC4217162}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {first_author}, markedauthors = {Fritsche L. G.; Fariss R. N.; Stambolian D.; Abecasis G. R.; Curcio C. A.; Swaroop A.@} } @article{genotypeimputationgwas2013, title = {Genotype imputation in genome-wide association studies}, author = {Porcu E. and Sanna S. and Fuchsberger C. and Fritsche L. G.}, journal = {Current Protocols in Human Genetics}, year = {2013}, volume = {Chapter 1}, pages = {Unit 1 25}, doi = {10.1002/0471142905.hg0125s78}, pmid = {23853078}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {last_author; corresponding_author}, authorrolemarkers = {@}, markedauthors = {Porcu E.; Sanna S.; Fuchsberger C.; Fritsche L. G.@} } @article{amdsevenloci2013, title = {Seven new loci associated with age-related macular degeneration}, author = {Fritsche L. G. and Chen W. and Schu M. and Yaspan B. L. and Yu Y. and Thorleifsson G. and Zack D. J. and Arakawa S. and Cipriani V. and Ripke S. and Igo R. P. Jr. and Buitendijk G. H. and Sim X. and Weeks D. E. and Guymer R. H. and Merriam J. E. and Francis P. J. and Hannum G. and Agarwal A. and Armbrecht A. M. and Audo I. and Aung T. and Barile G. R. and Benchaboune M. and Bird A. C. and Bishop P. N. and Branham K. E. and Brooks M. and Brucker A. J. and Cade W. H. and Cain M. S. and Campochiaro P. A. and Chan C. C. and Cheng C. Y. and Chew E. Y. and Chin K. A. and Chowers I. and Clayton D. G. and Cojocaru R. and Conley Y. P. and Cornes B. K. and Daly M. J. and Dhillon B. and Edwards A. O. and Evangelou E. and Fagerness J. and Ferreyra H. A. and Friedman J. S. and Geirsdottir A. and George R. J. and Gieger C. and Gupta N. and Hagstrom S. A. and Harding S. P. and Haritoglou C. and Heckenlively J. R. and Holz F. G. and Hughes G. and Ioannidis J. P. and Ishibashi T. and Joseph P. and Jun G. and Kamatani Y. and Katsanis N. and N. Keilhauer C and Khan J. C. and Kim I. K. and Kiyohara Y. and Klein B. E. and Klein R. and Kovach J. L. and Kozak I. and Lee C. J. and Lee K. E. and Lichtner P. and Lotery A. J. and Meitinger T. and Mitchell P. and Mohand-Said S. and Moore A. T. and Morgan D. J. and Morrison M. A. and Myers C. E. and Naj A. C. and Nakamura Y. and Okada Y. and Orlin A. and Ortube M. C. and Othman M. I. and Pappas C. and Park K. H. and Pauer G. J. and Peachey N. S. and Poch O. and Priya R. R. and Reynolds R. and Richardson A. J. and Ripp R. and Rudolph G. and Ryu E. and Sahel J. A. and Schaumberg D. A. and Scholl H. P. and Schwartz S. G. and Scott W. K. and Shahid H. and Sigurdsson H. and Silvestri G. and Sivakumaran T. A. and Smith R. T. and Sobrin L. and Souied E. H. and Stambolian D. E. and Stefansson H. and Sturgill-Short G. M. and Takahashi A. and Tosakulwong N. and Truitt B. J. and Tsironi E. E. and Uitterlinden A. G. and van Duijn C. M. and Vijaya L. and Vingerling J. R. and Vithana E. N. and Webster A. R. and Wichmann H. E. and Winkler T. W. and Wong T. Y. and Wright A. F. and Zelenika D. and Zhang M. and Zhao L. and Zhang K. and Klein M. L. and Hageman G. S. and Lathrop G. M. and Stefansson K. and Allikmets R. and Baird P. N. and Gorin M. B. and Wang J. J. and Klaver C. C. and Seddon J. M. and Pericak-Vance M. A. and Iyengar S. K. and Yates J. R. and Swaroop A. and Weber B. H. and Kubo M. and Deangelis M. M. and Leveillard T. and Thorsteinsdottir U. and Haines J. L. and Farrer L. A. and Heid I. M. and Abecasis G. R. and A. M. D. Gene Consortium}, journal = {Nature Genetics}, year = {2013}, volume = {45}, number = {4}, pages = {433-9, 439e1-2}, doi = {10.1038/ng.2578}, pmid = {23455636}, pmcid = {PMC3739472}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {shared_first_author}, authorrolemarkers = {†}, markedauthors = {Fritsche L. G.†; Chen W.†; Schu M.†; Yaspan B. L.†; Yu Y.†; Thorleifsson G.; Zack D. J.; Arakawa S.; Cipriani V.; Ripke S.; Igo R. P. Jr.; Buitendijk G. H.; Sim X.; Weeks D. E.; Guymer R. H.; Merriam J. E.; Francis P. J.; Hannum G.; Agarwal A.; Armbrecht A. M.; Audo I.; Aung T.; Barile G. R.; Benchaboune M.; Bird A. C.; Bishop P. N.; Branham K. E.; Brooks M.; Brucker A. J.; Cade W. H.; Cain M. S.; Campochiaro P. A.; Chan C. C.; Cheng C. Y.; Chew E. Y.; Chin K. A.; Chowers I.; Clayton D. G.; Cojocaru R.; Conley Y. P.; Cornes B. K.; Daly M. J.; Dhillon B.; Edwards A. O.; Evangelou E.; Fagerness J.; Ferreyra H. A.; Friedman J. S.; Geirsdottir A.; George R. J.; Gieger C.; Gupta N.; Hagstrom S. A.; Harding S. P.; Haritoglou C.; Heckenlively J. R.; Holz F. G.; Hughes G.; Ioannidis J. P.; Ishibashi T.; Joseph P.; Jun G.; Kamatani Y.; Katsanis N.; N. Keilhauer C; Khan J. C.; Kim I. K.; Kiyohara Y.; Klein B. E.; Klein R.; Kovach J. L.; Kozak I.; Lee C. J.; Lee K. E.; Lichtner P.; Lotery A. J.; Meitinger T.; Mitchell P.; Mohand-Said S.; Moore A. T.; Morgan D. J.; Morrison M. A.; Myers C. E.; Naj A. C.; Nakamura Y.; Okada Y.; Orlin A.; Ortube M. C.; Othman M. I.; Pappas C.; Park K. H.; Pauer G. J.; Peachey N. S.; Poch O.; Priya R. R.; Reynolds R.; Richardson A. J.; Ripp R.; Rudolph G.; Ryu E.; Sahel J. A.; Schaumberg D. A.; Scholl H. P.; Schwartz S. G.; Scott W. K.; Shahid H.; Sigurdsson H.; Silvestri G.; Sivakumaran T. A.; Smith R. T.; Sobrin L.; Souied E. H.; Stambolian D. E.; Stefansson H.; Sturgill-Short G. M.; Takahashi A.; Tosakulwong N.; Truitt B. J.; Tsironi E. E.; Uitterlinden A. G.; van Duijn C. M.; Vijaya L.; Vingerling J. R.; Vithana E. N.; Webster A. R.; Wichmann H. E.; Winkler T. W.; Wong T. Y.; Wright A. F.; Zelenika D.; Zhang M.; Zhao L.; Zhang K.; Klein M. L.; Hageman G. S.; Lathrop G. M.; Stefansson K.; Allikmets R.; Baird P. N.; Gorin M. B.; Wang J. J.; Klaver C. C.; Seddon J. M.; Pericak-Vance M. A.; Iyengar S. K.; Yates J. R.; Swaroop A.; Weber B. H.; Kubo M.; Deangelis M. M.; Leveillard T.; Thorsteinsdottir U.; Haines J. L.‡@; Farrer L. A.‡@; Heid I. M.‡@; Abecasis G. R.‡@; A. M. D. Gene Consortium} } @article{abca4amdsubgroup2012, title = {A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene}, author = {Fritsche L. G. and Fleckenstein M. and Fiebig B. S. and Schmitz-Valckenberg S. and Bindewald-Wittich A. and Keilhauer C. N. and Renner A. B. and Mackensen F. and Mossner A. and Pauleikhoff D. and Adrion C. and Mansmann U. and Scholl H. P. and Holz F. G. and Weber B. H.}, journal = {Investigative Ophthalmology & Visual Science}, year = {2012}, volume = {53}, number = {4}, pages = {2112-8}, doi = {10.1167/iovs.11-8785}, pmid = {22427542}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {shared_first_author}, authorrolemarkers = {†}, markedauthors = {Fritsche L. G.†; Fleckenstein M.†; Fiebig B. S.; Schmitz-Valckenberg S.; Bindewald-Wittich A.; Keilhauer C. N.; Renner A. B.; Mackensen F.; Mossner A.; Pauleikhoff D.; Adrion C.; Mansmann U.; Scholl H. P.; Holz F. G.; Weber B. H.@} } @article{cfhrfactorhamd2010, title = {An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)}, author = {Fritsche L. G. and Lauer N. and Hartmann A. and Stippa S. and Keilhauer C. N. and Oppermann M. and Pandey M. K. and Kohl J. and Zipfel P. F. and Weber B. H. and Skerka C.}, journal = {Human Molecular Genetics}, year = {2010}, volume = {19}, number = {23}, pages = {4694-704}, doi = {10.1093/hmg/ddq399}, pmid = {20843825}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {shared_first_author}, authorrolemarkers = {†}, markedauthors = {Fritsche L. G.†; Lauer N.†; Hartmann A.; Stippa S.; Keilhauer C. N.; Oppermann M.; Pandey M. K.; Kohl J.; Zipfel P. F.; Weber B. H.‡@; Skerka C.‡@} } @article{apoeamd2009, title = {Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene}, author = {Fritsche L. G. and Freitag-Wolf S. and Bettecken T. and Meitinger T. and Keilhauer C. N. and Krawczak M. and Weber B. H.}, journal = {Human Mutation}, year = {2009}, volume = {30}, number = {7}, pages = {1048-53}, doi = {10.1002/humu.20957}, pmid = {19384966}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {first_author}, markedauthors = {Fritsche L. G.; Freitag-Wolf S.; Bettecken T.; Meitinger T.; Keilhauer C. N.; Krawczak M.; Weber B. H.@} } @article{arms2amdmrna2008, title = {Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA}, author = {Fritsche L. G. and Loenhardt T. and Janssen A. and Fisher S. A. and Rivera A. and Keilhauer C. N. and Weber B. H.}, journal = {Nature Genetics}, year = {2008}, volume = {40}, number = {7}, pages = {892-6}, doi = {10.1038/ng.170}, pmid = {18511946}, publicationcategory = {journal_first_or_last_author}, sourcecategory = {Journal Articles (First or Last Author)}, authorshiprole = {shared_first_author}, authorrolemarkers = {†}, markedauthors = {Fritsche L. G.†; Loenhardt T.†; Janssen A.; Fisher S. A.; Rivera A.; Keilhauer C. N.; Weber B. H.@} } @article{octbasedaiassistedphenotypingofintermediateamdin2026, title = {OCT-based AI-assisted phenotyping of intermediate AMD in the prospective PINNACLE trial: PINNACLE Study Report 9}, author = {Riedl, S. and Mai, J. and Enzendorfer, M. L. and Nugawela, M. D. and Fritsche, L. and Prevost, T. and Rueckert, D. and Menten, M. and Scholl, H. and Sivaprasad, S. and Lotery, A. and Bogunovic, H. and Sacu, S. and Schmidt-Erfurth, U.}, journal = {Br J Ophthalmol}, year = {2026}, pmid = {42103449}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{precisionapproachesforscalabledigitalandclinicbas2026, title = {Precision approaches for scalable digital and clinic-based interventions in mental health}, author = {Bohnert A. S. B. and Fritsche L. and Sen S.}, journal = {Biol Psychiatry Cogn Neurosci Neuroimaging}, year = {2026}, doi = {10.1016/j.bpsc.2026.01.004}, pmid = {41565105}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{functionaloutcomesacrosshighriskoctbasedphenotype2025, title = {Functional Outcomes Across High-Risk OCT-Based Phenotypes in Intermediate Age-Related Macular Degeneration-PINNACLE Study Report 11}, author = {Enzendorfer M. L. and Mai J. and Riedl S. and Bogunovic H. and Menten M. J. and Rueckert D. and Fritsche L. G. and Prevost A. T. and Sivaprasad S. and Pfau M. and Scholl H. P. N. and Lotery A. J. and Sacu S. and Schmidt-Erfurth U.}, journal = {Investigative Ophthalmology & Visual Science}, year = {2025}, volume = {66}, number = {15}, pages = {54}, doi = {10.1167/iovs.66.15.54}, pmid = {41405094}, pmcid = {PMC12716453}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{asymmetricintegrationofvariouscancerdatasetsforid2025, title = {Asymmetric integration of various cancer datasets for identifying risk-associated variants and genes}, author = {Wang R. and Tran L. and Brennan B. and Fritsche L. G. and He K. and Brenner J. C. and Jiang H.}, journal = {Bioinform Adv}, year = {2025}, volume = {5}, number = {1}, pages = {vbaf253}, doi = {10.1093/bioadv/vbaf253}, pmid = {41180965}, pmcid = {PMC12576323}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{usingadaptiveopticstoassesshyporeflectiveclumpspe2025, title = {Using adaptive optics to assess hyporeflective clump speed and size in age-related macular degeneration in the PINNACLE Study. (PINNACLE Study Report 6)}, author = {Holmes C. and Kazantzis D. and Raza S. A. and Wijesingha N. and Taylor T. R. and Hagag A. and Riedl S. and Mai J. and Rueckert D. and Bogunovic H. and Scholl H. and Schmidt-Erfurth U. and Fritsche L. and Lotery A. and Sivaprasad S.}, journal = {Eye (Lond)}, year = {2025}, volume = {39}, number = {15}, pages = {2793-2799}, doi = {10.1038/s41433-025-03951-7}, pmid = {40908402}, pmcid = {PMC12494957}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{polygenicpredictionofbodymassindexandobesitythro2025, title = {Polygenic prediction of body mass index and obesity through the life course and across ancestries}, author = {Smit R. A. J. and Wade K. H. and Hui Q. and Arias J. D. and Yin X. and Christiansen M. R. and Yengo L. and Preuss M. H. and Nakabuye M. and Rocheleau G. and Graham S. E. and Buchanan V. L. and Chittoor G. and Graff M. and Guindo-Martinez M. and Lu Y. and Marouli E. and Sakaue S. and Spracklen C. N. and Vedantam S. and Wilson E. P. and Chen S. H. and Ferreira T. and Ji Y. and Karaderi T. and Lull K. and Machado M. and Malden D. E. and Medina-Gomez C. and Moore A. and Rueger S. and Akiyama M. and Allison M. A. and Alvarez M. and Andersen M. K. and Appadurai V. and Arbeeva L. and Bartell E. and Bhaskar S. and Bielak L. F. and Bis J. C. and Bollepalli S. and Bork-Jensen J. and Bradfield J. P. and Bradford Y. and Brandl C. and Braund P. S. and Brody J. A. and Broeckel U. and Burgdorf K. S. and Cade B. E. and Cai Q. and Camarda S. and Campbell A. and Canadas-Garre M. and Chai J. F. and Chesi A. and Choi S. H. and Christofidou P. and Couture C. and Cuellar-Partida G. and Danning R. and Degenhardt F. and Delgado G. E. and Delitala A. and Demirkan A. and Deng X. and Dietl A. and Dimitriou M. and Dimitrov L. and Dorajoo R. and Eichelmann F. and Eliasen A. U. and Engmann J. E. and Erdos M. R. and Fairhurst-Hunter Z. and Farmaki A. E. and Faul J. D. and Fernandez-Lopez J. C. and Forer L. and Frank M. and Freitag-Wolf S. and Fritsche L. G. and Fuchsberger C. and Galesloot T. E. and Gao Y. and Geller F. and Giannakopoulou O. and Giulianini F. and Gjesing A. P. and Goel A. and Gordon S. D. and Gorski M. and Grove J. and Guo X. and Gustafsson S. and Haessler J. and Hansen T. F. and Havulinna A. S. and Haworth S. J. and Heard-Costa N. and Hemerich D. and Highland H. M. and Hindy G. and Ho Y. L. and Hofer E. and Holliday E. and Horn K. and Hornsby W. E. and Hottenga J. J. and Huang H. and Huang J. and Huerta-Chagoya A. and Huo S. and Hwang M. Y. and Hwu C. M. and Iha H. and Ikeda D. D. and Isono M. and Jackson A. U. and Jansen I. E. and Jiang Y. and Johansson I. and Jonsson A. and Jorgensen T. and Kalafati I. P. and Kanai M. and Kanoni S. and Karhus L. L. and Kasturiratne A. and Katsuya T. and Kawaguchi T. and Kember R. L. and Kentistou K. A. and Kim D. and Kim H. N. and Kim Y. J. and Kleber M. E. and Knol M. 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S. and Wong A. and Wuttke M. and Xia R. and Yamamoto K. and Yang J. and Yao J. and Young H. and Yousri N. A. and Yu L. and Zeng L. and Zhang W. and Zhang X. and Zhao J. H. and Zhao W. and Zhou W. and Zimmermann M. E. and Zoledziewska M. and t Hart L. M. and Adair L. S. and Adams H. H. H. and Aguilar-Salinas C. A. and Al-Mulla F. and Arnett D. K. and Asselbergs F. W. and Asvold B. O. and Attia J. and Banas B. and Bandinelli S. and Beilin L. J. and Bennett D. A. and Bergler T. and Bharadwaj D. and Biino G. and Boerwinkle E. and Boger C. A. and Borja J. B. and Bouchard C. and Bowden D. W. and Brandslund I. and Brumpton B. and Buring J. E. and Caulfield M. J. and Chambers J. C. and Chandak G. R. and Chanock S. J. and Chaturvedi N. and Ida Chen Y. D. and Chen Z. and Cheng C. Y. and Cho Y. S. and Christensen K. and Christophersen I. E. and Ciullo M. and Cole J. W. and Collins F. S. and Concas M. P. and Cooper R. S. and Cruz M. and Cucca F. and Cutler M. J. and Damrauer S. M. and Dantoft T. 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A.}, journal = {Nature Genetics}, year = {2023}, volume = {55}, number = {12}, pages = {2065-2074}, doi = {10.1038/s41588-023-01534-4}, pmid = {37945903}, pmcid = {PMC10841479}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{comparisonofnovelvolumetricmicroperimetrymetricsin2023, title = {Comparison of Novel Volumetric Microperimetry Metrics in Intermediate Age-Related Macular Degeneration: PINNACLE Study Report 3}, author = {Anders P. and Traber G. L. and Pfau M. and Riedl S. and Hagag A. M. and Camenzind H. and Mai J. and Kaye R. and Bogunovic H. and Fritsche L. G. and Rueckert D. and Schmidt-Erfurth U. and Sivaprasad S. and Lotery A. J. and Scholl H. P. N.}, journal = {Transl Vis Sci Technol}, year = {2023}, volume = {12}, number = {8}, pages = {21}, doi = {10.1167/tvst.12.8.21}, pmid = {37624605}, pmcid = {PMC10461689}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{epidemiologicquestionnaireepiqascalableappbasedh2023, title = {Epidemiologic Questionnaire (EPI-Q) - a scalable, app-based health survey linked to electronic health record and genotype data}, author = {Salvatore M. and Clark-Boucher D. and Fritsche L. G. and Ortlieb J. and Houghtby J. and Driscoll A. and Caldwell-Larkins B. and Smith J. A. and Brummett C. M. and Kheterpal S. and Lisabeth L. and Mukherjee B.}, journal = {Epidemiol Health}, year = {2023}, volume = {45}, pages = {e2023074}, doi = {10.4178/epih.e2023074}, pmid = {37591787}, pmcid = {PMC10867525}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{exploringhealthyretinalagingwithdeeplearning2023, title = {Exploring Healthy Retinal Aging with Deep Learning}, author = {Menten M. J. and Holland R. and Leingang O. and Bogunovic H. and Hagag A. M. and Kaye R. and Riedl S. and Traber G. L. and Hassan O. N. and Pawlowski N. and Glocker B. and Fritsche L. G. and Scholl H. P. N. and Sivaprasad S. and Schmidt-Erfurth U. and Rueckert D. and Lotery A. J.}, journal = {Ophthalmol Sci}, year = {2023}, volume = {3}, number = {3}, pages = {100294}, doi = {10.1016/j.xops.2023.100294}, pmid = {37113474}, pmcid = {PMC10127123}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{themichigangenomicsinitiativeabiobanklinkinggenot2023, title = {The Michigan Genomics Initiative: A biobank linking genotypes and electronic clinical records in Michigan Medicine patients}, author = {Zawistowski M. and Fritsche L. G. and Pandit A. and Vanderwerff B. and Patil S. and Schmidt E. M. and VandeHaar P. and Willer C. J. and Brummett C. M. and Kheterpal S. and Zhou X. and Boehnke M. and Abecasis G. R. and Zollner S.}, journal = {Cell Genom}, year = {2023}, volume = {3}, number = {2}, pages = {100257}, doi = {10.1016/j.xgen.2023.100257}, pmid = {36819667}, pmcid = {PMC9932985}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{afastlinkagemethodforpopulationgwascohortswithr2023, title = {A fast linkage method for population GWAS cohorts with related individuals}, author = {Zajac G. J. M. and Gagliano Taliun S. A. and Sidore C. and Graham S. E. and Asvold B. O. and Brumpton B. and Nielsen J. B. and Zhou W. and Gabrielsen M. and Skogholt A. H. and Fritsche L. G. and Schlessinger D. and Cucca F. and Hveem K. and Willer C. J. and Abecasis G. R.}, journal = {Genet Epidemiol}, year = {2023}, volume = {47}, number = {3}, pages = {231-248}, doi = {10.1002/gepi.22516}, pmid = {36739617}, pmcid = {PMC10027464}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{covid19outcomesbycancerstatussitetreatmentandva2023, title = {COVID-19 Outcomes by Cancer Status, Site, Treatment, and Vaccination}, author = {Salvatore M. and Hu M. M. and Beesley L. J. and Mondul A. M. and Pearce C. L. and Friese C. R. and Fritsche L. G. and Mukherjee B.}, journal = {Cancer Epidemiol Biomarkers Prev}, year = {2023}, volume = {32}, number = {6}, pages = {748-759}, doi = {10.1158/1055-9965.EPI-22-0607}, pmid = {36626383}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{identifyingtheprevalenceofclinicallyactionabledrug2022, title = {Identifying the prevalence of clinically actionable drug-gene interactions in a health system biorepository to guide pharmacogenetics implementation services}, author = {Pasternak A. L. and Ward K. and Irwin M. and Okerberg C. and Hayes D. and Fritsche L. and Zoellner S. and Virzi J. and Choe H. M. and Ellingrod V.}, journal = {Clin Transl Sci}, year = {2023}, volume = {16}, number = {2}, pages = {292-304}, doi = {10.1111/cts.13449}, pmid = {36510710}, pmcid = {PMC9926071}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{developingandvalidatingamultivariablepredictionmod2022, title = {Developing and validating a multivariable prediction model which predicts progression of intermediate to late age-related macular degeneration-the PINNACLE trial protocol}, author = {Sutton J. and Menten M. J. and Riedl S. and Bogunovic H. and Leingang O. and Anders P. and Hagag A. M. and Waldstein S. and Wilson A. and Cree A. J. and Traber G. and Fritsche L. G. and Scholl H. and Rueckert D. and Schmidt-Erfurth U. and Sivaprasad S. and Prevost T. and Lotery A.}, journal = {Eye (Lond)}, year = {2023}, volume = {37}, number = {6}, pages = {1275-1283}, doi = {10.1038/s41433-022-02097-0}, pmid = {35614343}, pmcid = {PMC9130980}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{thehuntstudyapopulationbasedcohortforgeneticres2022, title = {The HUNT study: A population-based cohort for genetic research}, author = {Brumpton B. M. and Graham S. and Surakka I. and Skogholt A. H. and Loset M. and Fritsche L. G. and Wolford B. and Zhou W. and Nielsen J. B. and Holmen O. L. and Gabrielsen M. E. and Thomas L. and Bhatta L. and Rasheed H. and Zhang H. and Kang H. M. and Hornsby W. and Moksnes M. R. and Coward E. and Melbye M. and Giskeodegard G. F. and Fenstad J. and Krokstad S. and Naess M. and Langhammer A. and Boehnke M. and Abecasis G. R. and Asvold B. O. and Hveem K. and Willer C. J.}, journal = {Cell Genom}, year = {2022}, volume = {2}, number = {10}, pages = {100193}, doi = {10.1016/j.xgen.2022.100193}, pmid = {36777998}, pmcid = {PMC9903730}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{globalbiobankmetaanalysisinitiativepoweringgenetic2022, title = {Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease}, author = {Zhou W. and Kanai M. and Wu K. H. and Rasheed H. and Tsuo K. and Hirbo J. B. and Wang Y. and Bhattacharya A. and Zhao H. and Namba S. and Surakka I. and Wolford B. N. and Lo Faro V. and Lopera-Maya E. A. and Lall K. and Fave M. J. and Partanen J. J. and Chapman S. B. and Karjalainen J. and Kurki M. and Maasha M. and Brumpton B. M. and Chavan S. and Chen T. T. and Daya M. and Ding Y. and Feng Y. A. and Guare L. A. and Gignoux C. R. and Graham S. E. and Hornsby W. E. and Ingold N. and Ismail S. I. and Johnson R. and Laisk T. and Lin K. and Lv J. and Millwood I. Y. and Moreno-Grau S. and Nam K. and Palta P. and Pandit A. and Preuss M. H. and Saad C. and Setia-Verma S. and Thorsteinsdottir U. and Uzunovic J. and Verma A. and Zawistowski M. and Zhong X. and Afifi N. and Al-Dabhani K. M. and Al Thani A. and Bradford Y. and Campbell A. and Crooks K. and de Bock G. H. and Damrauer S. M. and Douville N. J. and Finer S. and Fritsche L. G. and Fthenou E. and Gonzalez-Arroyo G. and Griffiths C. J. and Guo Y. and Hunt K. A. and Ioannidis A. and Jansonius N. M. and Konuma T. and Lee M. T. M. and Lopez-Pineda A. and Matsuda Y. and Marioni R. E. and Moatamed B. and Nava-Aguilar M. A. and Numakura K. and Patil S. and Rafaels N. and Richmond A. and Rojas-Munoz A. and Shortt J. A. and Straub P. and Tao R. and Vanderwerff B. and Vernekar M. and Veturi Y. and Barnes K. C. and Boezen M. and Chen Z. and Chen C. Y. and Cho J. and Smith G. D. and Finucane H. K. and Franke L. and Gamazon E. R. and Ganna A. and Gaunt T. R. and Ge T. and Huang H. and Huffman J. and Katsanis N. and Koskela J. T. and Lajonchere C. and Law M. H. and Li L. and Lindgren C. M. and Loos R. J. F. and MacGregor S. and Matsuda K. and Olsen C. M. and Porteous D. J. and Shavit J. A. and Snieder H. and Takano T. and Trembath R. C. and Vonk J. M. and Whiteman D. C. and Wicks S. J. and Wijmenga C. and Wright J. and Zheng J. and Zhou X. and Awadalla P. and Boehnke M. and Bustamante C. D. and Cox N. J. and Fatumo S. and Geschwind D. H. and Hayward C. and Hveem K. and Kenny E. E. and Lee S. and Lin Y. F. and Mbarek H. and Magi R. and Martin H. C. and Medland S. E. and Okada Y. and Palotie A. V. and Pasaniuc B. and Rader D. J. and Ritchie M. D. and Sanna S. and Smoller J. W. and Stefansson K. and van Heel D. A. and Walters R. G. and Zollner S. and Biobank of the Americas and Biobank Japan Project and BioMe and BioVu and CanPath - Ontario Health Study and China Kadoorie Biobank Collaborative Group and Colorado Center for Personalized Medicine and de Code Genetics and Estonian Biobank and FinnGen and Generation Scotland and Genes and Health Research Team and LifeLines and Mass General Brigham Biobank and Michigan Genomics Initiative and National Biobank of Korea and Penn Medicine BioBank and Qatar Biobank and Q. Skin Sun and Health Study and Taiwan Biobank and Hunt Study and Ucla Atlas Community Health Initiative and Uganda Genome Resource and U. K. Biobank and Martin A. R. and Willer C. J. and Daly M. J. and Neale B. M.}, journal = {Cell Genom}, year = {2022}, volume = {2}, number = {10}, pages = {100192}, doi = {10.1016/j.xgen.2022.100192}, pmid = {36777996}, pmcid = {PMC9903716}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{acasecrossoverphenomewideassociationstudyphewasf2022, title = {A Case-Crossover Phenome-wide association study (PheWAS) for understanding Post-COVID-19 diagnosis patterns}, author = {Haupert S. R. and Shi X. and Chen C. and Fritsche L. G. and Mukherjee B.}, journal = {J Biomed Inform}, year = {2022}, volume = {136}, pages = {104237}, doi = {10.1016/j.jbi.2022.104237}, pmid = {36283580}, pmcid = {PMC9595430}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{theconstructionofcrosspopulationpolygenicriskscor2022, title = {The construction of cross-population polygenic risk scores using transfer learning}, author = {Zhao Z. and Fritsche L. G. and Smith J. A. and Mukherjee B. and Lee S.}, journal = {American Journal of Human Genetics}, year = {2022}, volume = {109}, number = {11}, pages = {1998-2008}, doi = {10.1016/j.ajhg.2022.09.010}, pmid = {36240765}, pmcid = {PMC9674947}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{polygenicliabilitytodepressionisassociatedwithmul2022, title = {Polygenic Liability to Depression Is Associated With Multiple Medical Conditions in the Electronic Health Record: Phenome-wide Association Study of 46,782 Individuals}, author = {Fang Y. and Fritsche L. G. and Mukherjee B. and Sen S. and Richmond-Rakerd L. S.}, journal = {Biol Psychiatry}, year = {2022}, volume = {92}, number = {12}, pages = {923-931}, doi = {10.1016/j.biopsych.2022.06.004}, pmid = {35965108}, pmcid = {PMC10712651}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{genomewidemetaanalysisofironstatusbiomarkersand2022, title = {Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT}, author = {Moksnes M. R. and Graham S. E. and Wu K. H. and Hansen A. F. and Gagliano Taliun S. A. and Zhou W. and Thorstensen K. and Fritsche L. G. and Gill D. and Mason A. and Cucca F. and Schlessinger D. and Abecasis G. R. and Burgess S. and Asvold B. O. and Nielsen J. B. and Hveem K. and Willer C. J. and Brumpton B. M.}, journal = {Commun Biol}, year = {2022}, volume = {5}, number = {1}, pages = {591}, doi = {10.1038/s42003-022-03529-z}, pmid = {35710628}, pmcid = {PMC9203493}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{unbiasedimmuneprofilingrevealsanaturalkillercell2021, title = {Unbiased immune profiling reveals a natural killer cell-peripheral nerve axis in fibromyalgia}, author = {Verma V. and Drury G. L. and Parisien M. and Ozdag Acarli A. N. and Al-Aubodah T. A. and Nijnik A. and Wen X. and Tugarinov N. and Verner M. and Klares R. 3rd and Linton A. and Krock E. and Morado Urbina C. E. and Winsvold B. and Fritsche L. G. and Fors E. A. and Piccirillo C. and Khoutorsky A. and Svensson C. I. and Fitzcharles M. A. and Ingelmo P. M. and Bernard N. F. and Dupuy F. P. and Uceyler N. and Sommer C. and King I. L. and Meloto C. B. and Diatchenko L. and HUNT-All In Pain}, journal = {Pain}, year = {2022}, volume = {163}, number = {7}, pages = {e821-e836}, doi = {10.1097/j.pain.0000000000002498}, pmid = {34913882}, pmcid = {PMC8942876}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{type2diabetessexspecificeffectsassociatedwithe162021, title = {Type 2 diabetes sex-specific effects associated with E167K coding variant in TM6SF2}, author = {Fan Y. and Wolford B. N. and Lu H. and Liang W. and Sun J. and Zhou W. and Rom O. and Mahajan A. and Surakka I. and Graham S. E. and Liu Z. and Kim H. and Ramdas S. and Fritsche L. G. and Nielsen J. B. and Gabrielsen M. E. and Hveem K. and Yang D. and Song J. and Garcia-Barrio M. T. and Zhang J. and Liu W. and Zhang K. and Willer C. J. and Chen Y. E.}, journal = {iScience}, year = {2021}, volume = {24}, number = {11}, pages = {103196}, doi = {10.1016/j.isci.2021.103196}, pmid = {34746691}, pmcid = {PMC8554487}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{agenomewideassociationstudywith1126563individua2021, title = {A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease}, author = {Wightman D. P. and Jansen I. E. and Savage J. E. and Shadrin A. A. and Bahrami S. and Holland D. and Rongve A. and Borte S. and Winsvold B. S. and Drange O. K. and Martinsen A. E. and Skogholt A. H. and Willer C. and Brathen G. and Bosnes I. and Nielsen J. B. and Fritsche L. G. and Thomas L. F. and Pedersen L. M. and Gabrielsen M. E. and Johnsen M. B. and Meisingset T. W. and Zhou W. and Proitsi P. and Hodges A. and Dobson R. and Velayudhan L. and Heilbron K. and Auton A. and andMe Research Team and Sealock J. M. and Davis L. K. and Pedersen N. L. and Reynolds C. A. and Karlsson I. K. and Magnusson S. and Stefansson H. and Thordardottir S. and Jonsson P. V. and Snaedal J. and Zettergren A. and Skoog I. and Kern S. and Waern M. and Zetterberg H. and Blennow K. and Stordal E. and Hveem K. and Zwart J. A. and Athanasiu L. and Selnes P. and Saltvedt I. and Sando S. B. and Ulstein I. and Djurovic S. and Fladby T. and Aarsland D. and Selbaek G. and Ripke S. and Stefansson K. and Andreassen O. A. and Posthuma D.}, journal = {Nature Genetics}, year = {2021}, volume = {53}, number = {9}, pages = {1276-1282}, doi = {10.1038/s41588-021-00921-z}, pmid = {34493870}, pmcid = {PMC10243600}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{clusteranalysisandgenotypephenotypeassessmentofge2021, title = {Cluster Analysis and Genotype-Phenotype Assessment of Geographic Atrophy in Age-Related Macular Degeneration: Age-Related Eye Disease Study 2 Report 25}, author = {Keenan T. D. L. and Oden N. L. and Agron E. and Clemons T. E. and Henning A. and Fritsche L. G. and Wong W. T. and Chew E. Y. and Age-Related Eye Disease Study 2 Research Group}, journal = {Ophthalmol Retina}, year = {2021}, volume = {5}, number = {11}, pages = {1061-1073}, doi = {10.1016/j.oret.2021.07.006}, pmid = {34325054}, pmcid = {PMC8578299}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{genomewideassociationstudyofcardiactroponiniint2021, title = {Genome-wide association study of cardiac troponin I in the general population}, author = {Moksnes M. R. and Rosjo H. and Richmond A. and Lyngbakken M. N. and Graham S. E. and Hansen A. F. and Wolford B. N. and Gagliano Taliun S. A. and LeFaive J. and Rasheed H. and Thomas L. F. and Zhou W. and Aung N. and Surakka I. and Douville N. J. and Campbell A. and Porteous D. J. and Petersen S. E. and Munroe P. B. and Welsh P. and Sattar N. and Smith G. D. and Fritsche L. G. and Nielsen J. B. and Asvold B. O. and Hveem K. and Hayward C. and Willer C. J. and Brumpton B. M. and Omland T.}, journal = {Human Molecular Genetics}, year = {2021}, volume = {30}, number = {21}, pages = {2027-2039}, doi = {10.1093/hmg/ddab124}, pmid = {33961016}, pmcid = {PMC8522636}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{genomewideanalysisof944133individualsprovidesins2021, title = {Genome-wide analysis of 944 133 individuals provides insights into the etiology of haemorrhoidal disease}, author = {Zheng T. and Ellinghaus D. and Juzenas S. and Cossais F. and Burmeister G. and Mayr G. and Jorgensen I. F. and Teder-Laving M. and Skogholt A. H. and Chen S. and Strege P. R. and Ito G. and Banasik K. and Becker T. and Bokelmann F. and Brunak S. and Buch S. and Clausnitzer H. and Datz C. and Dbds Consortium and Degenhardt F. and Doniec M. and Erikstrup C. and Esko T. and Forster M. and Frey N. and Fritsche L. G. and Gabrielsen M. E. and Grassle T. and Gsur A. and Gross J. and Hampe J. and Hendricks A. and Hinz S. and Hveem K. and Jongen J. and Junker R. and Karlsen T. H. and Hemmrich-Stanisak G. and Kruis W. and Kupcinskas J. and Laubert T. and Rosenstiel P. C. and Rocken C. and Laudes M. and Leendertz F. H. and Lieb W. and Limperger V. and Margetis N. and Matz-Rensing K. and Nemeth C. G. and Ness-Jensen E. and Nowak-Gottl U. and Pandit A. and Pedersen O. B. and Peleikis H. G. and Peuker K. and Rodriguez C. L. and Ruhlemann M. C. and Schniewind B. and Schulzky M. and Skieceviciene J. and Tepel J. and Thomas L. and Uellendahl-Werth F. and Ullum H. and Vogel I. and Volzke H. and von Fersen L. and von Schonfels W. and Vanderwerff B. and Wilking J. and Wittig M. and Zeissig S. and Zobel M. and Zawistowski M. and Vacic V. and Sazonova O. and Noblin E. S. and andMe Research Team and Farrugia G. and Beyder A. and Wedel T. and Kahlke V. and Schafmayer C. and D'Amato M. and Franke A.}, journal = {Gut}, year = {2021}, volume = {70}, number = {8}, pages = {1538-49}, doi = {10.1136/gutjnl-2020-323868}, pmid = {33888516}, pmcid = {PMC8292596}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{aphenomewideassociationstudyphewasofcovid19outc2021, title = {A Phenome-Wide Association Study (PheWAS) of COVID-19 Outcomes by Race Using the Electronic Health Records Data in Michigan Medicine}, author = {Salvatore M. and Gu T. and Mack J. A. and Prabhu Sankar S. and Patil S. and Valley T. S. and Singh K. and Nallamothu B. K. and Kheterpal S. and Lisabeth L. and Fritsche L. G. and Mukherjee B.}, journal = {Journal of Clinical Medicine}, year = {2021}, volume = {10}, number = {7}, doi = {10.3390/jcm10071351}, pmid = {33805886}, pmcid = {PMC8037108}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{apowerfulsubsetbasedmethodidentifiesgenesetassoc2021, title = {A powerful subset-based method identifies gene set associations and improves interpretation in UK Biobank}, author = {Dutta D. and VandeHaar P. and Fritsche L. G. and Zollner S. and Boehnke M. and Scott L. J. and Lee S.}, journal = {American Journal of Human Genetics}, year = {2021}, volume = {108}, number = {4}, pages = {669-681}, doi = {10.1016/j.ajhg.2021.02.016}, pmid = {33730541}, pmcid = {PMC8059336}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{phenotyperiskscoresphersforpancreaticcancerusing2020, title = {Phenotype risk scores (PheRS) for pancreatic cancer using time-stamped electronic health record data: Discovery and validation in two large biobanks}, author = {Salvatore M. and Beesley L. J. and Fritsche L. G. and Hanauer D. and Shi X. and Mondul A. M. and Pearce C. L. and Mukherjee B.}, journal = {J Biomed Inform}, year = {2021}, volume = {113}, pages = {103652}, doi = {10.1016/j.jbi.2020.103652}, pmid = {33279681}, pmcid = {PMC7855433}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{patternsofrepeateddiagnostictestingforcovid19in2020, title = {Patterns of repeated diagnostic testing for COVID-19 in relation to patient characteristics and outcomes}, author = {Salerno S. and Zhao Z. and Prabhu Sankar S. and Salvatore M. and Gu T. and Fritsche L. G. and Lee S. and Lisabeth L. D. and Valley T. S. and Mukherjee B.}, journal = {J Intern Med}, year = {2021}, volume = {289}, number = {5}, pages = {726-737}, doi = {10.1111/joim.13213}, pmid = {33253457}, pmcid = {PMC7753604}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{assessmentofacausalrelationshipbetweenbodymassin2020, title = {Assessment of a causal relationship between body mass index and atopic dermatitis}, author = {Budu-Aggrey A. and Watkins S. H. and Brumpton B. and Loset M. and Tyrrell J. and Modalsli E. H. and Vie G. A. and Palmer T. and Fritsche L. G. and Nielsen J. B. and Romundstad P. R. and Davey Smith G. and Asvold B. O. and Paternoster L. and Brown S. J.}, journal = {J Allergy Clin Immunol}, year = {2021}, volume = {147}, number = {1}, pages = {400-403}, doi = {10.1016/j.jaci.2020.04.050}, pmid = {32433920}, pmcid = {PMC7794861}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{anovelvariantinapobgenecausesextremelylowldlc2020, title = {A Novel Variant in APOB Gene Causes Extremely Low LDL-C Without Known Adverse Effects}, author = {Surakka I. and Hornsby W. E. and Farhat L. and Rubenfire M. and Fritsche L. G. and Hveem K. and Chen Y. E. and Brook R. D. and Willer C. J. and Weinberg R. L.}, journal = {JACC Case Rep}, year = {2020}, volume = {2}, number = {5}, pages = {775-779}, doi = {10.1016/j.jaccas.2020.03.016}, pmid = {34317346}, pmcid = {PMC8301695}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{lossoffunctiongenomicvariantshighlightpotentialth2020, title = {Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease}, author = {Nielsen J. B. and Rom O. and Surakka I. and Graham S. E. and Zhou W. and Roychowdhury T. and Fritsche L. G. and Gagliano Taliun S. A. and Sidore C. and Liu Y. and Gabrielsen M. E. and Skogholt A. H. and Wolford B. and Overton W. and Zhao Y. and Chen J. and Zhang H. and Hornsby W. E. and Acheampong A. and Grooms A. and Schaefer A. and Zajac G. J. M. and Villacorta L. and Zhang J. and Brumpton B. and Loset M. and Rai V. and Lundegaard P. R. and Olesen M. S. and Taylor K. D. and Palmer N. D. and Chen Y. D. and Choi S. H. and Lubitz S. A. and Ellinor P. T. and Barnes K. C. and Daya M. and Rafaels N. and Weiss S. T. and Lasky-Su J. and Tracy R. P. and Vasan R. S. and Cupples L. A. and Mathias R. A. and Yanek L. R. and Becker L. C. and Peyser P. A. and Bielak L. F. and Smith J. A. and Aslibekyan S. and Hidalgo B. A. and Arnett D. K. and Irvin M. R. and Wilson J. G. and Musani S. K. and Correa A. and Rich S. S. and Guo X. and Rotter J. I. and Konkle B. A. and Johnsen J. M. and Ashley-Koch A. E. and Telen M. J. and Sheehan V. A. and Blangero J. and Curran J. E. and Peralta J. M. and Montgomery C. and Sheu W. H. and Chung R. H. and Schwander K. and Nouraie S. M. and Gordeuk V. R. and Zhang Y. and Kooperberg C. and Reiner A. P. and Jackson R. D. and Bleecker E. R. and Meyers D. A. and Li X. and Das S. and Yu K. and LeFaive J. and Smith A. and Blackwell T. and Taliun D. and Zollner S. and Forer L. and Schoenherr S. and Fuchsberger C. and Pandit A. and Zawistowski M. and Kheterpal S. and Brummett C. M. and Natarajan P. and Schlessinger D. and Lee S. and Kang H. M. and Cucca F. and Holmen O. L. and Asvold B. O. and Boehnke M. and Kathiresan S. and Abecasis G. R. and Chen Y. E. and Willer C. J. and Hveem K.}, journal = {Nature Communications}, year = {2020}, volume = {11}, number = {1}, pages = {6417}, doi = {10.1038/s41467-020-20086-3}, pmid = {33339817}, pmcid = {PMC7749177}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{theeffectofgeneticvariantsassociatedwithagerelat2020, title = {The Effect of Genetic Variants Associated With Age-Related Macular Degeneration Varies With Age}, author = {Schick T. and Lores-Motta L. and Altay L. and Fritsche L. G. and den Hollander A. I. and Fauser S.}, journal = {Investigative Ophthalmology & Visual Science}, year = {2020}, volume = {61}, number = {14}, pages = {17}, doi = {10.1167/iovs.61.14.17}, pmid = {33320170}, pmcid = {PMC7745630}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{commonvariantsinsox2andcongenitalcataractgenesc2020, title = {Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract}, author = {Yonova-Doing E. and Zhao W. and Igo R. P. Jr. and Wang C. and Sundaresan P. and Lee K. E. and Jun G. R. and Alves A. C. and Chai X. and Chan A. S. Y. and Lee M. C. and Fong A. and Tan A. G. and Khor C. C. and Chew E. Y. and Hysi P. G. and Fan Q. and Chua J. and Chung J. and Liao J. and Colijn J. M. and Burdon K. P. and Fritsche L. G. and Swift M. K. and Hilmy M. H. and Chee M. L. and Tedja M. and Bonnemaijer P. W. M. and Gupta P. and Tan Q. S. and Li Z. and Vithana E. N. and Ravindran R. D. and Chee S. P. and Shi Y. and Liu W. and Su X. and Sim X. and Shen Y. and Wang Y. X. and Li H. and Tham Y. C. and Teo Y. Y. and Aung T. and Small K. S. and Mitchell P. and Jonas J. B. and Wong T. Y. and Fletcher A. E. and Klaver C. C. W. and Klein B. E. K. and Wang J. J. and Iyengar S. K. and Hammond C. J. and Cheng C. Y.}, journal = {Commun Biol}, year = {2020}, volume = {3}, number = {1}, pages = {755}, doi = {10.1038/s42003-020-01421-2}, pmid = {33311586}, pmcid = {PMC7733496}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{labwasnovelfindingsandstudydesignrecommendationsf2020, title = {LabWAS: Novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks}, author = {Goldstein J. A. and Weinstock J. S. and Bastarache L. A. and Larach D. B. and Fritsche L. G. and Schmidt E. M. and Brummett C. M. and Kheterpal S. and Abecasis G. R. and Denny J. C. and Zawistowski M.}, journal = {PLOS Genetics}, year = {2020}, volume = {16}, number = {11}, pages = {e1009077}, doi = {10.1371/journal.pgen.1009077}, pmid = {33175840}, pmcid = {PMC7682892}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{geneticarchitectureofabdominalaorticaneurysminthe2020, title = {Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program}, author = {Klarin D. and Verma S. S. and Judy R. and Dikilitas O. and Wolford B. N. and Paranjpe I. and Levin M. G. and Pan C. and Tcheandjieu C. and Spin J. M. and Lynch J. and Assimes T. L. and Aldstedt Nyronning L. and Mattsson E. and Edwards T. L. and Denny J. and Larson E. and Lee M. T. M. and Carrell D. and Zhang Y. and Jarvik G. P. and Gharavi A. G. and Harley J. and Mentch F. and Pacheco J. A. and Hakonarson H. and Skogholt A. H. and Thomas L. and Gabrielsen M. E. and Hveem K. and Nielsen J. B. and Zhou W. and Fritsche L. and Huang J. and Natarajan P. and Sun Y. V. and DuVall S. L. and Rader D. J. and Cho K. and Chang K. M. and Wilson P. W. F. and O'Donnell C. J. and Kathiresan S. and Scali S. T. and Berceli S. A. and Willer C. and Jones G. T. and Bown M. J. and Nadkarni G. and Kullo I. J. and Ritchie M. and Damrauer S. M. and Tsao P. S. and Veterans Affairs Million Veteran Programdagger}, journal = {Circulation}, year = {2020}, volume = {142}, number = {17}, pages = {1633-1646}, doi = {10.1161/CIRCULATIONAHA.120.047544}, pmid = {32981348}, pmcid = {PMC7580856}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{gwasofthyroidstimulatinghormonehighlightspleiotrop2020, title = {GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer}, author = {Zhou W. and Brumpton B. and Kabil O. and Gudmundsson J. and Thorleifsson G. and Weinstock J. and Zawistowski M. and Nielsen J. B. and Chaker L. and Medici M. and Teumer A. and Naitza S. and Sanna S. and Schultheiss U. T. and Cappola A. and Karjalainen J. and Kurki M. and Oneka M. and Taylor P. and Fritsche L. G. and Graham S. E. and Wolford B. N. and Overton W. and Rasheed H. and Haug E. B. and Gabrielsen M. E. and Skogholt A. H. and Surakka I. and Davey Smith G. and Pandit A. and Roychowdhury T. and Hornsby W. E. and Jonasson J. G. and Senter L. and Liyanarachchi S. and Ringel M. D. and Xu L. and Kiemeney L. A. and He H. and Netea-Maier R. T. and Mayordomo J. I. and Plantinga T. S. and Hrafnkelsson J. and Hjartarson H. and Sturgis E. M. and Palotie A. and Daly M. and Citterio C. E. and Arvan P. and Brummett C. M. and Boehnke M. and de la Chapelle A. and Stefansson K. and Hveem K. and Willer C. J. and Asvold B. O.}, journal = {Nature Communications}, year = {2020}, volume = {11}, number = {1}, pages = {3981}, doi = {10.1038/s41467-020-17718-z}, pmid = {32769997}, pmcid = {PMC7414135}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{ageofonsetinformationhelpsidentify76geneticvaria2020, title = {Age-of-onset information helps identify 76 genetic variants associated with allergic disease}, author = {Ferreira M. A. R. and Vonk J. M. and Baurecht H. and Marenholz I. and Tian C. and Hoffman J. D. and Helmer Q. and Tillander A. and Ullemar V. and Lu Y. and Grosche S. and Ruschendorf F. and Granell R. and Brumpton B. M. and Fritsche L. G. and Bhatta L. and Gabrielsen M. E. and Nielsen J. B. and Zhou W. and Hveem K. and Langhammer A. and Holmen O. L. and Loset M. and Abecasis G. R. and Willer C. J. and Emami N. C. and Cavazos T. B. and Witte J. S. and Szwajda A. and andMe Research Team and collaborators of the Share study and Hinds D. A. and Hubner N. and Weidinger S. and Magnusson P. K. and Jorgenson E. and Karlsson R. and Paternoster L. and Boomsma D. I. and Almqvist C. and Lee Y. A. and Koppelman G. H.}, journal = {PLOS Genetics}, year = {2020}, volume = {16}, number = {6}, pages = {e1008725}, doi = {10.1371/journal.pgen.1008725}, pmid = {32603359}, pmcid = {PMC7367489}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{afastandaccuratemethodforgenomewidetimetoevent2020, title = {A Fast and Accurate Method for Genome-Wide Time-to-Event Data Analysis and Its Application to UK Biobank}, author = {Bi W. and Fritsche L. G. and Mukherjee B. and Kim S. and Lee S.}, journal = {American Journal of Human Genetics}, year = {2020}, volume = {107}, number = {2}, pages = {222-233}, doi = {10.1016/j.ajhg.2020.06.003}, pmid = {32589924}, pmcid = {PMC7413891}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{exploringandvisualizinglargescalegeneticassociatio2020, title = {Exploring and visualizing large-scale genetic associations by using PheWeb}, author = {Gagliano Taliun S. A. and VandeHaar P. and Boughton A. P. and Welch R. P. and Taliun D. and Schmidt E. M. and Zhou W. and Nielsen J. B. and Willer C. J. and Lee S. and Fritsche L. G. and Boehnke M. and Abecasis G. R.}, journal = {Nature Genetics}, year = {2020}, volume = {52}, number = {6}, pages = {550-552}, doi = {10.1038/s41588-020-0622-5}, pmid = {32504056}, pmcid = {PMC7754083}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{scalablegeneralizedlinearmixedmodelforregionbased2020, title = {Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts}, author = {Zhou W. and Zhao Z. and Nielsen J. B. and Fritsche L. G. and LeFaive J. and Gagliano Taliun S. A. and Bi W. and Gabrielsen M. E. and Daly M. J. and Neale B. M. and Hveem K. and Abecasis G. R. and Willer C. J. and Lee S.}, journal = {Nature Genetics}, year = {2020}, volume = {52}, number = {6}, pages = {634-639}, doi = {10.1038/s41588-020-0621-6}, pmid = {32424355}, pmcid = {PMC7871731}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{genomewideassociationmetaanalysescombiningmultiple2020, title = {Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility}, author = {Landi M. T. and Bishop D. T. and MacGregor S. and Machiela M. J. and Stratigos A. J. and Ghiorzo P. and Brossard M. and Calista D. and Choi J. and Fargnoli M. C. and Zhang T. and Rodolfo M. and Trower A. J. and Menin C. and Martinez J. and Hadjisavvas A. and Song L. and Stefanaki I. and Scolyer R. and Yang R. and Goldstein A. M. and Potrony M. and Kypreou K. P. and Pastorino L. and Queirolo P. and Pellegrini C. and Cattaneo L. and Zawistowski M. and Gimenez-Xavier P. and Rodriguez A. and Elefanti L. and Manoukian S. and Rivoltini L. and Smith B. H. and Loizidou M. A. and Del Regno L. and Massi D. and Mandala M. and Khosrotehrani K. and Akslen L. A. and Amos C. I. and Andresen P. A. and Avril M. F. and Azizi E. and Soyer H. P. and Bataille V. and Dalmasso B. and Bowdler L. M. and Burdon K. P. and Chen W. V. and Codd V. and Craig J. E. and Debniak T. and Falchi M. and Fang S. and Friedman E. and Simi S. and Galan P. and Garcia-Casado Z. and Gillanders E. M. and Gordon S. and Green A. and Gruis N. A. and Hansson J. and Harland M. and Harris J. and Helsing P. and Henders A. and Hocevar M. and Hoiom V. and Hunter D. and Ingvar C. and Kumar R. and Lang J. and Lathrop G. M. and Lee J. E. and Li X. and Lubinski J. and Mackie R. M. and Malt M. and Malvehy J. and McAloney K. and Mohamdi H. and Molven A. and Moses E. K. and Neale R. E. and Novakovic S. and Nyholt D. R. and Olsson H. and Orr N. and Fritsche L. G. and Puig-Butille J. A. and Qureshi A. A. and Radford-Smith G. L. and Randerson-Moor J. and Requena C. and Rowe C. and Samani N. J. and Sanna M. and Schadendorf D. and Schulze H. J. and Simms L. A. and Smithers M. and Song F. and Swerdlow A. J. and van der Stoep N. and Kukutsch N. A. and Visconti A. and Wallace L. and Ward S. V. and Wheeler L. and Sturm R. A. and Hutchinson A. and Jones K. and Malasky M. and Vogt A. and Zhou W. and Pooley K. A. and Elder D. E. and Han J. and Hicks B. and Hayward N. K. and Kanetsky P. A. and Brummett C. and Montgomery G. W. and Olsen C. M. and Hayward C. and Dunning A. M. and Martin N. G. and Evangelou E. and Mann G. J. and Long G. and Pharoah P. D. P. and Easton D. F. and Barrett J. H. and Cust A. E. and Abecasis G. and Duffy D. L. and Whiteman D. C. and Gogas H. and De Nicolo A. and Tucker M. A. and Newton-Bishop J. A. and Geno M. E. L. Consortium and Q Mega and Qtwin Investigators and Athens Melanoma Study Group and andMe and S. D. H. Study Group and I. B. D. Investigators and Essen-Heidelberg Investigators and Amfs Investigators and MelaNostrum Consortium and Peris K. and Chanock S. J. and Demenais F. and Brown K. M. and Puig S. and Nagore E. and Shi J. and Iles M. M. and Law M. H.}, journal = {Nature Genetics}, year = {2020}, volume = {52}, number = {5}, pages = {494-504}, doi = {10.1038/s41588-020-0611-8}, pmid = {32341527}, pmcid = {PMC7255059}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{ananalyticframeworkforexploringsamplingandobserva2020, title = {An analytic framework for exploring sampling and observation process biases in genome and phenome-wide association studies using electronic health records}, author = {Beesley L. J. and Fritsche L. G. and Mukherjee B.}, journal = {Stat Med}, year = {2020}, volume = {39}, number = {14}, pages = {1965-1979}, doi = {10.1002/sim.8524}, pmid = {32198773}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{mitochondrialgenomewideassociationstudyofmigraine2020, title = {Mitochondrial genome-wide association study of migraine - the HUNT Study}, author = {Borte S. and Zwart J. A. and Skogholt A. H. and Gabrielsen M. E. and Thomas L. F. and Fritsche L. G. and Surakka I. and Nielsen J. B. and Zhou W. and Wolford B. N. and Vigeland M. D. and Hagen K. and Kristoffersen E. S. and Nyholt D. R. and Chasman D. I. and Brumpton B. M. and Willer C. J. and Winsvold B. S.}, journal = {Cephalalgia}, year = {2020}, volume = {40}, number = {6}, pages = {625-634}, doi = {10.1177/0333102420906835}, pmid = {32056457}, pmcid = {PMC7243449}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{ukbiobankwholeexomesequencebinaryphenomeanalysis2019, title = {UK Biobank Whole-Exome Sequence Binary Phenome Analysis with Robust Region-Based Rare-Variant Test}, author = {Zhao Z. and Bi W. and Zhou W. and VandeHaar P. and Fritsche L. G. and Lee S.}, journal = {American Journal of Human Genetics}, year = {2020}, volume = {106}, number = {1}, pages = {3-12}, doi = {10.1016/j.ajhg.2019.11.012}, pmid = {31866045}, pmcid = {PMC7042481}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{theemerginglandscapeofhealthresearchbasedonbioba2019, title = {The emerging landscape of health research based on biobanks linked to electronic health records: Existing resources, statistical challenges, and potential opportunities}, author = {Beesley L. J. and Salvatore M. and Fritsche L. G. and Pandit A. and Rao A. and Brummett C. and Willer C. J. and Lisabeth L. D. and Mukherjee B.}, journal = {Stat Med}, year = {2020}, volume = {39}, number = {6}, pages = {773-800}, doi = {10.1002/sim.8445}, pmid = {31859414}, pmcid = {PMC7983809}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{heritabilityofthefibromyalgiaphenotypevariesbyage2020, title = {Heritability of the Fibromyalgia Phenotype Varies by Age}, author = {Dutta D. and Brummett C. M. and Moser S. E. and Fritsche L. G. and Tsodikov A. and Lee S. and Clauw D. J. and Scott L. J.}, journal = {Arthritis Rheumatol}, year = {2020}, volume = {72}, number = {5}, pages = {815-823}, doi = {10.1002/art.41171}, pmid = {31736264}, pmcid = {PMC8372844}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{predictionofankylosingspondylitisinthehuntstudyb2019, title = {Prediction of Ankylosing Spondylitis in the HUNT Study by a Genetic Risk Score Combining 110 Single-nucleotide Polymorphisms of Genome-wide Significance}, author = {Rostami S. and Hoff M. and Brown M. A. and Hveem K. and Holmen O. L. and Fritsche L. G. and Videm V.}, journal = {J Rheumatol}, year = {2020}, volume = {47}, number = {2}, pages = {204-210}, doi = {10.3899/jrheum.181209}, pmid = {30936278}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{validatingonlinemeasuresofcognitiveabilityingenes2017, title = {Validating Online Measures of Cognitive Ability in Genes for Good, a Genetic Study of Health and Behavior}, author = {Liu M. and Rea-Sandin G. and Foerster J. and Fritsche L. and Brieger K. and Clark C. and Li K. and Pandit A. and Zajac G. and Abecasis G. R. and Vrieze S.}, journal = {Assessment}, year = {2020}, volume = {27}, number = {1}, pages = {136-148}, doi = {10.1177/1073191117744048}, pmid = {29182012}, pmcid = {PMC5930146}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{globalprevalenceofpostcoronavirusdisease2019covid2022, title = {Global Prevalence of Post-Coronavirus Disease 2019 (COVID-19) Condition or Long COVID: A Meta-Analysis and Systematic Review}, author = {Chen C. and Haupert S. R. and Zimmermann L. and Shi X. and Fritsche L. 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H. and Paternoster L.}, journal = {Nature Genetics}, year = {2017}, volume = {49}, number = {12}, pages = {1752-1757}, doi = {10.1038/ng.3985}, pmid = {29083406}, pmcid = {PMC5989923}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{hdlcholesterollevelsandriskofagerelatedmaculard2017, title = {HDL-cholesterol levels and risk of age-related macular degeneration: a multiethnic genetic study using Mendelian randomization}, author = {Fan Q. and Maranville J. C. and Fritsche L. and Sim X. and Cheung C. M. G. and Chen L. J. and Gorski M. and Yamashiro K. and Ahn J. and Laude A. and Dorajoo R. and Lim T. H. and Teo Y. Y. and Blaustein R. O. and Yoshimura N. and Park K. H. and Pang C. P. and Tai E. S. and Khor C. C. and Wong T. Y. and Runz H. and Cheng C. Y.}, journal = {Int J Epidemiol}, year = {2017}, volume = {46}, number = {6}, pages = {1891-1902}, doi = {10.1093/ije/dyx189}, pmid = {29025108}, pmcid = {PMC5837540}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{improvingpowerofassociationtestsusingmultiplesets2017, title = {Improving power of association tests using multiple sets of imputed genotypes from distributed reference panels}, author = {Zhou W. and Fritsche L. G. and Das S. and Zhang H. and Nielsen J. B. and Holmen O. L. and Chen J. and Lin M. and Elvestad M. B. and Hveem K. and Abecasis G. R. and Kang H. M. and Willer C. J.}, journal = {Genet Epidemiol}, year = {2017}, volume = {41}, number = {8}, pages = {744-755}, doi = {10.1002/gepi.22067}, pmid = {28861891}, pmcid = {PMC6324190}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{ascalablebayesianmethodforintegratingfunctionalin2017, title = {A Scalable Bayesian Method for Integrating Functional Information in Genome-wide Association Studies}, author = {Yang J. and Fritsche L. G. and Zhou X. and Abecasis G. and International Age-Related Macular Degeneration Genomics Consortium}, journal = {American Journal of Human Genetics}, year = {2017}, volume = {101}, number = {3}, pages = {404-416}, doi = {10.1016/j.ajhg.2017.08.002}, pmid = {28844487}, pmcid = {PMC5590971}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{proteinalteringandregulatorygeneticvariantsnearga2017, title = {Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve}, author = {Yang B. and Zhou W. and Jiao J. and Nielsen J. B. and Mathis M. R. and Heydarpour M. and Lettre G. and Folkersen L. and Prakash S. and Schurmann C. and Fritsche L. and Farnum G. A. and Lin M. and Othman M. and Hornsby W. and Driscoll A. and Levasseur A. and Thomas M. and Farhat L. and Dube M. P. and Isselbacher E. M. and Franco-Cereceda A. and Guo D. C. and Bottinger E. 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E. and Chen W. and Areds Research Group}, journal = {Genetics}, year = {2017}, volume = {206}, number = {1}, pages = {119-133}, doi = {10.1534/genetics.116.196998}, pmid = {28341650}, pmcid = {PMC5419464}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{insilicofunctionalmetaanalysisof5962abca4varian2017, title = {In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases}, author = {Cornelis S. S. and Bax N. M. and Zernant J. and Allikmets R. and Fritsche L. G. and den Dunnen J. T. and Ajmal M. and Hoyng C. B. and Cremers F. P.}, journal = {Human Mutation}, year = {2017}, volume = {38}, number = {4}, pages = {400-408}, doi = {10.1002/humu.23165}, pmid = {28044389}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{noclinicallysignificantassociationbetweencfhandar2014, title = {No clinically significant association between CFH and ARMS2 genotypes and response to nutritional supplements: AREDS report number 38}, author = {Chew E. Y. and Klein M. L. and Clemons T. E. and Agron E. and Ratnapriya R. and Edwards A. O. and Fritsche L. G. and Swaroop A. and Abecasis G. R. and Age-Related Eye Disease Study Research Group}, journal = {Ophthalmology}, year = {2014}, volume = {121}, number = {11}, pages = {2173-80}, doi = {10.1016/j.ophtha.2014.05.008}, pmid = {24974817}, pmcid = {PMC4253656}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{expandingthespectrumofpth1rmutationsinpatientswi2013, title = {Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption}, author = {Roth H. and Fritsche L. G. and Meier C. and Pilz P. and Eigenthaler M. and Meyer-Marcotty P. and Stellzig-Eisenhauer A. and Proff P. and Kanno C. M. and Weber B. H.}, journal = {Clin Oral Investig}, year = {2014}, volume = {18}, number = {2}, pages = {377-84}, doi = {10.1007/s00784-013-1014-3}, pmid = {23771181}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{agerelatedmaculardegenerationandcoronaryheartdise2012, title = {Age-related macular degeneration and coronary heart disease: evaluation of genetic and environmental associations}, author = {Keilhauer C. N. and Fritsche L. G. and Guthoff R. and Haubitz I. and Weber B. H.}, journal = {Eur J Med Genet}, year = {2013}, volume = {56}, number = {2}, pages = {72-9}, doi = {10.1016/j.ejmg.2012.10.005}, pmid = {23103884}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{modellingthegeneticriskinagerelatedmaculardegene2012, title = {Modelling the genetic risk in age-related macular degeneration}, author = {Grassmann F. and Fritsche L. G. and Keilhauer C. N. and Heid I. M. and Weber B. H.}, journal = {PLOS ONE}, year = {2012}, volume = {7}, number = {5}, pages = {e37979}, doi = {10.1371/journal.pone.0037979}, pmid = {22666427}, pmcid = {PMC3364197}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{multicentercohortassociationstudyofslc2a1singlenu2012, title = {Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration}, author = {Baas D. C. and Ho L. and Tanck M. W. and Fritsche L. G. and Merriam J. E. and van het Slot R. and Koeleman B. P. and Gorgels T. G. and van Duijn C. M. and Uitterlinden A. G. and de Jong P. T. and Hofman A. and ten Brink J. B. and Vingerling J. R. and Klaver C. C. and Dean M. and Weber B. H. and Allikmets R. and Hageman G. S. and Bergen A. A.}, journal = {Mol Vis}, year = {2012}, volume = {18}, pages = {657-74}, pmid = {22509097}, pmcid = {PMC3324365}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{complementfactorhgeneticvariantandagerelatedmacu2012, title = {Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype}, author = {Sofat R. and Casas J. P. and Webster A. R. and Bird A. C. and Mann S. S. and Yates J. R. and Moore A. T. and Sepp T. and Cipriani V. and Bunce C. and Khan J. C. and Shahid H. and Swaroop A. and Abecasis G. and Branham K. E. and Zareparsi S. and Bergen A. A. and Klaver C. C. and Baas D. C. and Zhang K. and Chen Y. and Gibbs D. and Weber B. H. and Keilhauer C. N. and Fritsche L. G. and Lotery A. and Cree A. J. and Griffiths H. L. and Bhattacharya S. S. and Chen L. L. and Jenkins S. A. and Peto T. and Lathrop M. and Leveillard T. and Gorin M. B. and Weeks D. E. and Ortube M. C. and Ferrell R. E. and Jakobsdottir J. and Conley Y. P. and Rahu M. and Seland J. H. and Soubrane G. and Topouzis F. and Vioque J. and Tomazzoli L. and Young I. and Whittaker J. and Chakravarthy U. and de Jong P. T. and Smeeth L. and Fletcher A. and Hingorani A. D.}, journal = {Int J Epidemiol}, year = {2012}, volume = {41}, number = {1}, pages = {250-62}, doi = {10.1093/ije/dyr204}, pmid = {22253316}, pmcid = {PMC3304526}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{evidenceofassociationofapoewithagerelatedmacular2011, title = {Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies}, author = {McKay G. J. and Patterson C. C. and Chakravarthy U. and Dasari S. and Klaver C. C. and Vingerling J. R. and Ho L. and de Jong P. T. and Fletcher A. E. and Young I. S. and Seland J. H. and Rahu M. and Soubrane G. and Tomazzoli L. and Topouzis F. and Vioque J. and Hingorani A. D. and Sofat R. and Dean M. and Sawitzke J. and Seddon J. M. and Peter I. and Webster A. R. and Moore A. T. and Yates J. R. and Cipriani V. and Fritsche L. G. and Weber B. H. and Keilhauer C. N. and Lotery A. J. and Ennis S. and Klein M. L. and Francis P. J. and Stambolian D. and Orlin A. and Gorin M. B. and Weeks D. E. and Kuo C. L. and Swaroop A. and Othman M. and Kanda A. and Chen W. and Abecasis G. R. and Wright A. F. and Hayward C. and Baird P. N. and Guymer R. H. and Attia J. and Thakkinstian A. and Silvestri G.}, journal = {Human Mutation}, year = {2011}, volume = {32}, number = {12}, pages = {1407-16}, doi = {10.1002/humu.21577}, pmid = {21882290}, pmcid = {PMC3217135}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{agerelatedmaculardegenerationwithdiscordantlatest2011, title = {Age-related macular degeneration with discordant late stage phenotypes in monozygotic twins}, author = {Keilhauer C. N. and Fritsche L. G. and Weber B. H.}, journal = {Ophthalmic Genet}, year = {2011}, volume = {32}, number = {4}, pages = {237-44}, doi = {10.3109/13816810.2011.592177}, pmid = {21740222}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{variationsinapolipoproteinefrequencywithageinap2011, title = {Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people}, author = {McKay G. J. and Silvestri G. and Chakravarthy U. and Dasari S. and Fritsche L. G. and Weber B. H. and Keilhauer C. N. and Klein M. L. and Francis P. J. and Klaver C. C. and Vingerling J. R. and Ho L. and De Jong P. T. and Dean M. and Sawitzke J. and Baird P. N. and Guymer R. H. and Stambolian D. and Orlin A. and Seddon J. M. and Peter I. and Wright A. F. and Hayward C. and Lotery A. J. and Ennis S. and Gorin M. B. and Weeks D. E. and Kuo C. L. and Hingorani A. D. and Sofat R. and Cipriani V. and Swaroop A. and Othman M. and Kanda A. and Chen W. and Abecasis G. R. and Yates J. R. and Webster A. R. and Moore A. T. and Seland J. H. and Rahu M. and Soubrane G. and Tomazzoli L. and Topouzis F. and Vioque J. and Young I. S. and Fletcher A. E. and Patterson C. C.}, journal = {Am J Epidemiol}, year = {2011}, volume = {173}, number = {12}, pages = {1357-64}, doi = {10.1093/aje/kwr015}, pmid = {21498624}, pmcid = {PMC3145394}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{riskandnonriskassociatedvariantsatthe10q26amdl2011, title = {Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency}, author = {Friedrich U. and Myers C. A. and Fritsche L. G. and Milenkovich A. and Wolf A. and Corbo J. C. and Weber B. H.}, journal = {Human Molecular Genetics}, year = {2011}, volume = {20}, number = {7}, pages = {1387-99}, doi = {10.1093/hmg/ddr020}, pmid = {21252205}, pmcid = {PMC3049360}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{crxchipseqrevealsthecisregulatoryarchitectureof2010, title = {CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors}, author = {Corbo J. C. and Lawrence K. A. and Karlstetter M. and Myers C. A. and Abdelaziz M. and Dirkes W. and Weigelt K. and Seifert M. and Benes V. and Fritsche L. G. and Weber B. H. and Langmann T.}, journal = {Genome Res}, year = {2010}, volume = {20}, number = {11}, pages = {1512-25}, doi = {10.1101/gr.109405.110}, pmid = {20693478}, pmcid = {PMC2963815}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{cfhc3andarms2aresignificantrisklociforsusceptib2009, title = {CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD}, author = {Scholl H. P. and Fleckenstein M. and Fritsche L. G. and Schmitz-Valckenberg S. and Gobel A. and Adrion C. and Herold C. and Keilhauer C. N. and Mackensen F. and Mossner A. and Pauleikhoff D. and Weinberger A. W. and Mansmann U. and Holz F. G. and Becker T. and Weber B. H.}, journal = {PLOS ONE}, year = {2009}, volume = {4}, number = {10}, pages = {e7418}, doi = {10.1371/journal.pone.0007418}, pmid = {19823576}, pmcid = {PMC2756620}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{systemiccomplementactivationinagerelatedmacularde2008, title = {Systemic complement activation in age-related macular degeneration}, author = {Scholl H. P. and Charbel Issa P. and Walier M. and Janzer S. and Pollok-Kopp B. and Borncke F. and Fritsche L. G. and Chong N. V. and Fimmers R. and Wienker T. and Holz F. G. and Weber B. H. and Oppermann M.}, journal = {PLOS ONE}, year = {2008}, volume = {3}, number = {7}, pages = {e2593}, doi = {10.1371/journal.pone.0002593}, pmid = {18596911}, pmcid = {PMC2440421}, publicationcategory = {journal_contributing_author}, sourcecategory = {Journal Articles (Contributing Author)}, authorshiprole = {contributing_author} } @article{defectivecomplementcontroloffactorhy402handfhl12007, title = {Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration}, author = {Skerka C. and Lauer N. and Weinberger A. A. and Keilhauer C. N. and Suhnel J. and Smith R. and Schlotzer-Schrehardt U. and Fritsche L. and Heinen S. and Hartmann A. and Weber B. H. and Zipfel P. 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