Found: 31

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  • Population structure in Argentina.

    Published in:
    PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0196325
    By:
    • Muzzio, Marina;
    • Motti, Josefina M. B.;
    • Paz Sepulveda, Paula B.;
    • Yee, Muh-ching;
    • Cooke, Thomas;
    • Santos, María R.;
    • Ramallo, Virginia;
    • Alfaro, Emma L.;
    • Dipierri, Jose E.;
    • Bailliet, Graciela;
    • Bravi, Claudio M.;
    • Bustamante, Carlos D.;
    • Kenny, Eimear E.
    Publication type:
    Article

  • Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.

    Published in:
    Journal of Child Neurology, 2021, v. 36, n. 2, p. 93, doi. 10.1177/0883073820953001
    By:
    • Abdelmoumen, Imane;
    • Jimenez, Sandra;
    • Valencia, Ignacio;
    • Melvin, Joseph;
    • Legido, Agustin;
    • Diaz-Diaz, Mayela M.;
    • Griffith, Christopher;
    • Massingham, Lauren J.;
    • Yelton, Melissa;
    • Rodríguez-Hernández, Janice;
    • Schnur, Rhonda E.;
    • Walsh, Laurence E.;
    • Cristancho, Ana G.;
    • Bergqvist, Christina A.;
    • McWalter, Kirsty;
    • Mathieson, Iain;
    • Belbin, Gillian M.;
    • Kenny, Eimear E.;
    • Ortiz-Gonzalez, Xilma R.;
    • Schneider, Michael C.
    Publication type:
    Article

  • Admixture mapping of peripheral artery disease in a Dominican population reveals a putative risk locus on 2q35.

    Published in:
    Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1181167
    By:
    • Cullina, Sinead;
    • Wojcik, Genevieve L.;
    • Shemirani, Ruhollah;
    • Klarin, Derek;
    • Gorman, Bryan R.;
    • Sorokin, Elena P.;
    • Gignoux, Christopher R.;
    • Belbin, Gillian M.;
    • Pyarajan, Saiju;
    • Asgari, Samira;
    • Tsao, Philip S.;
    • Damrauer, Scott M.;
    • Abul-Husn, Noura S.;
    • Kenny, Eimear E.
    Publication type:
    Article

  • Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 17, p. 4693, doi. 10.1093/hmg/ddu158
    By:
    • Vacic, Vladimir;
    • Ozelius, Laurie J.;
    • Clark, Lorraine N.;
    • Bar-Shira, Anat;
    • Gana-Weisz, Mali;
    • Gurevich, Tanya;
    • Gusev, Alexander;
    • Kedmi, Merav;
    • Kenny, Eimear E.;
    • Liu, Xinmin;
    • Mejia-Santana, Helen;
    • Mirelman, Anat;
    • Raymond, Deborah;
    • Saunders-Pullman, Rachel;
    • Desnick, Robert J.;
    • Atzmon, Gil;
    • Burns, Edward R.;
    • Ostrer, Harry;
    • Hakonarson, Hakon;
    • Bergman, Aviv
    Publication type:
    Article

  • Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population.

    Published in:
    Human Molecular Genetics, 2011, v. 20, n. 4, p. 827, doi. 10.1093/hmg/ddq510
    By:
    • Kenny, Eimear E.;
    • Kim, Minseung;
    • Gusev, Alexander;
    • Lowe, Jennifer K.;
    • Salit, Jacqueline;
    • Smith, J. Gustav;
    • Kovvali, Sirisha;
    • Kang, Hyun Min;
    • Newton-Cheh, Christopher;
    • Daly, Mark J.;
    • Stoffel, Markus;
    • Altshuler, David M.;
    • Friedman, Jeffrey M.;
    • Eskin, Eleazar;
    • Breslow, Jan L.;
    • Pe'er, Itsik
    Publication type:
    Article

  • Implementing genomic screening in diverse populations.

    Published in:
    Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00832-y
    By:
    • Abul-Husn, Noura S.;
    • Soper, Emily R.;
    • Braganza, Giovanna T.;
    • Rodriguez, Jessica E.;
    • Zeid, Natasha;
    • Cullina, Sinead;
    • Bobo, Dean;
    • Moscati, Arden;
    • Merkelson, Amanda;
    • Loos, Ruth J. F.;
    • Cho, Judy H.;
    • Belbin, Gillian M.;
    • Suckiel, Sabrina A.;
    • Kenny, Eimear E.
    Publication type:
    Article

  • Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.

    Published in:
    Genome Medicine, 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13073-019-0691-1
    By:
    • Abul-Husn, Noura S.;
    • Soper, Emily R.;
    • Odgis, Jacqueline A.;
    • Cullina, Sinead;
    • Bobo, Dean;
    • Moscati, Arden;
    • Rodriguez, Jessica E.;
    • Loos, Ruth J. F.;
    • Cho, Judy H.;
    • Belbin, Gillian M.;
    • Suckiel, Sabrina A.;
    • Kenny, Eimear E.
    Publication type:
    Article

  • Imputation-Aware Tag SNP Selection To Improve Power for Large-Scale, Multi-ethnic Association Studies.

    Published in:
    G3: Genes | Genomes | Genetics, 2018, v. 8, n. 10, p. 3255, doi. 10.1534/g3.118.200502
    By:
    • Wojcik, Genevieve L.;
    • Fuchsberger, Christian;
    • Taliun, Daniel;
    • Welch, Ryan;
    • Martin, Alicia R.;
    • Shringarpure, Suyash;
    • Carlson, Christopher S.;
    • Abecasis, Goncalo;
    • Hyun Min Kang;
    • Boehnke, Michael;
    • Bustamante, Carlos D.;
    • Gignoux, Christopher R.;
    • Kenny, Eimear E.
    Publication type:
    Article

  • Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations.

    Published in:
    Genome Medicine, 2022, v. 14, p. 1, doi. 10.1186/s13073-022-01074-2
    By:
    • Ge, Tian;
    • Irvin, Marguerite R.;
    • Patki, Amit;
    • Srinivasasainagendra, Vinodh;
    • Lin, Yen-Feng;
    • Tiwari, Hemant K.;
    • Armstrong, Nicole D.;
    • Benoit, Barbara;
    • Chen, Chia-Yen;
    • Choi, Karmel W.;
    • Cimino, James J.;
    • Davis, Brittney H.;
    • Dikilitas, Ozan;
    • Etheridge, Bethany;
    • Feng, Yen-Chen Anne;
    • Gainer, Vivian;
    • Huang, Hailiang;
    • Jarvik, Gail P.;
    • Kachulis, Christopher;
    • Kenny, Eimear E.
    Publication type:
    Article

  • Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations.

    Published in:
    Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01074-2
    By:
    • Ge, Tian;
    • Irvin, Marguerite R.;
    • Patki, Amit;
    • Srinivasasainagendra, Vinodh;
    • Lin, Yen-Feng;
    • Tiwari, Hemant K.;
    • Armstrong, Nicole D.;
    • Benoit, Barbara;
    • Chen, Chia-Yen;
    • Choi, Karmel W.;
    • Cimino, James J.;
    • Davis, Brittney H.;
    • Dikilitas, Ozan;
    • Etheridge, Bethany;
    • Feng, Yen-Chen Anne;
    • Gainer, Vivian;
    • Huang, Hailiang;
    • Jarvik, Gail P.;
    • Kachulis, Christopher;
    • Kenny, Eimear E.
    Publication type:
    Article

  • Reconstructing Native American Migrations from Whole-Genome and Whole-Exome Data.

    Published in:
    PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1004023
    By:
    • Gravel, Simon;
    • Zakharia, Fouad;
    • Moreno-Estrada, Andres;
    • Byrnes, Jake K.;
    • Muzzio, Marina;
    • Rodriguez-Flores, Juan L.;
    • Kenny, Eimear E.;
    • Gignoux, Christopher R.;
    • Maples, Brian K.;
    • Guiblet, Wilfried;
    • Dutil, Julie;
    • Via, Marc;
    • Sandoval, Karla;
    • Bedoya, Gabriel;
    • Oleksyk, Taras K.;
    • Ruiz-Linares, Andres;
    • Burchard, Esteban G.;
    • Martinez-Cruzado, Juan Carlos;
    • Bustamante, Carlos D.
    Publication type:
    Article

  • ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy.

    Published in:
    PLoS Genetics, 2013, v. 9, n. 1, p. 1, doi. 10.1371/journal.pgen.1003270
    By:
    • Faraco, Juliette;
    • Ling Lin;
    • Rahbek Kornum, Birgitte;
    • Kenny, Eimear E.;
    • Trynka, Gosia;
    • Einen, Mali;
    • Rico, Tom J.;
    • Lichtner, Peter;
    • Yves Dauvilliers;
    • Arnulf, Isabelle;
    • Lecendreux, Michel;
    • Javidi, Sirous;
    • Geisler, Peter;
    • Mayer, Geert;
    • Pizza, Fabio;
    • Poli, Francesca;
    • Plazzi, Giuseppe;
    • Overeem, Sebastiaan;
    • Jan Lammers, Gert;
    • Kemlink, David
    Publication type:
    Article

  • A Genome-Wide Scan of Ashkenazi Jewish Crohn's Disease Suggests Novel Susceptibility Loci.

    Published in:
    PLoS Genetics, 2012, v. 8, n. 3, p. 1, doi. 10.1371/journal.pgen.1002559
    By:
    • Kenny, Eimear E.;
    • Pe'er, Itsik;
    • Karban, Amir;
    • Ozelius, Laurie;
    • Mitchell, Adele A.;
    • Sok Meng Ng;
    • Erazo, Monica;
    • Ostrer, Harry;
    • Abraham, Clara;
    • Abreu, Maria T.;
    • Atzmon, Gil;
    • Barzilai, Nir;
    • Brant, Steven R.;
    • Bressman, Susan;
    • Burns, Edward R.;
    • Chowers, Yehuda;
    • Clark, Lorraine N.;
    • Darvasi, Ariel;
    • Doheny, Dana;
    • Duerr, Richard H.
    Publication type:
    Article

  • Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae.

    Published in:
    PLoS Genetics, 2009, v. 5, n. 2, p. 1, doi. 10.1371/journal.pgen.1000365
    By:
    • Lowe, Jennifer K.;
    • Maller, Julian B.;
    • Pe'er, Itsik;
    • Neale, Benjamin M.;
    • Salit, Jacqueline;
    • Kenny, Eimear E.;
    • Shea, Jessica L.;
    • Burkhardt, Ralph;
    • Smith, J. Gustav;
    • Weizhen Ji;
    • Noel, Martha;
    • Jia Nee Foo;
    • Blundell, Maude L.;
    • Skilling, Vita;
    • Garcia, Laura;
    • Sullivan, Marcia L.;
    • Lee, Heather E.;
    • Labek, Anna;
    • Ferdowsian, Hope;
    • Auerbach, Steven B.
    Publication type:
    Article

  • Physician and informal care use explained by the Pediatric Quality of Life Inventory (PedsQL) in children with suspected genetic disorders.

    Published in:
    Quality of Life Research, 2024, v. 33, n. 7, p. 1997, doi. 10.1007/s11136-024-03677-1
    By:
    • Berkalieva, Asem;
    • Kelly, Nicole R.;
    • Fisher, Ashley;
    • Hohmann, Samuel F.;
    • Abul-Husn, Noura S.;
    • Greally, John M.;
    • Horowitz, Carol R.;
    • Wasserstein, Melissa P.;
    • Kenny, Eimear E.;
    • Gelb, Bruce D.;
    • Ferket, Bart S.
    Publication type:
    Article

  • Genome-wide association study of schizophrenia in Ashkenazi Jews.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2015, v. 168B, n. 8, p. 649, doi. 10.1002/ajmg.b.32349
    By:
    • Goes, Fernando S.;
    • McGrath, John;
    • Avramopoulos, Dimitrios;
    • Wolyniec, Paula;
    • Pirooznia, Mehdi;
    • Ruczinski, Ingo;
    • Nestadt, Gerald;
    • Kenny, Eimear E.;
    • Vacic, Vladimir;
    • Peters, Inga;
    • Lencz, Todd;
    • Darvasi, Ariel;
    • Mulle, Jennifer G.;
    • Warren, Stephen T.;
    • Pulver, Ann E.
    Publication type:
    Article

  • CDH1 pathogenic variants and cancer risk in an unselected patient population.

    Published in:
    Familial Cancer, 2022, v. 21, n. 2, p. 235, doi. 10.1007/s10689-021-00257-x
    By:
    • Bar-Mashiah, Ariel;
    • Soper, Emily R.;
    • Cullina, Sinead;
    • Belbin, Gillian M.;
    • Kenny, Eimear E.;
    • Lucas, Aimee L.;
    • Abul-Husn, Noura S.
    Publication type:
    Article

  • Rapid detection of identity-by-descent tracts for mega-scale datasets.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22910-w
    By:
    • Shemirani, Ruhollah;
    • Belbin, Gillian M.;
    • Avery, Christy L.;
    • Kenny, Eimear E.;
    • Gignoux, Christopher R.;
    • Ambite, José Luis
    Publication type:
    Article

  • Textpresso: An Ontology-Based Information Retrieval and Extraction System for Biological Literature.

    Published in:
    PLoS Biology, 2004, v. 2, n. 11, p. 1984, doi. 10.1371/journal.pbio.0020309
    By:
    • Müller, Hans-michael;
    • Kenny, Eimear E.;
    • Sternberg, Paul W.
    Publication type:
    Article

  • Textpresso: An Ontology-Based Information Retrieval and Extraction System for Biological Literature.

    Published in:
    PLoS Biology, 2004, v. 2, n. 9, p. 1, doi. 10.1371/journal.pbio.0020309
    By:
    • Müller, Hans-Michael;
    • Kenny, Eimear E;
    • Sternberg, Paul W
    Publication type:
    Article

  • Assessing efficiency of fine-mapping obesity-associated variants through leveraging ancestry architecture and functional annotation using PAGE and UKBB cohorts.

    Published in:
    Human Genetics, 2023, v. 142, n. 10, p. 1477, doi. 10.1007/s00439-023-02593-7
    By:
    • Anwar, Mohammad Yaser;
    • Graff, Mariaelisa;
    • Highland, Heather M.;
    • Smit, Roelof;
    • Wang, Zhe;
    • Buchanan, Victoria L.;
    • Young, Kristin L.;
    • Kenny, Eimear E.;
    • Fernandez-Rhodes, Lindsay;
    • Liu, Simin;
    • Assimes, Themistocles;
    • Garcia, David O.;
    • Daeeun, Kim;
    • Gignoux, Christopher R.;
    • Justice, Anne E.;
    • Haiman, Christopher A.;
    • Buyske, Steve;
    • Peters, Ulrike;
    • Loos, Ruth J. F.;
    • Kooperberg, Charles
    Publication type:
    Article

  • Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.

    Published in:
    Human Genetics, 2018, v. 137, n. 10, p. 847, doi. 10.1007/s00439-018-1943-7
    By:
    • Bonnemaijer, Pieter W. M.;
    • Iglesias, Adriana I.;
    • Nadkarni, Girish N.;
    • Sanyiwa, Anna J.;
    • Hassan, Hassan G.;
    • Cook, Colin;
    • GIGA Study Group;
    • Simcoe, Mark;
    • Taylor, Kent D.;
    • Schurmann, Claudia;
    • Belbin, Gillian M.;
    • Kenny, Eimear E.;
    • Bottinger, Erwin P.;
    • van de Laar, Suzanne;
    • Wiliams, Susan E. I.;
    • Akafo, Stephen K.;
    • Ashaye, Adeyinka O.;
    • Zangwill, Linda M.;
    • Girkin, Christopher A.;
    • Ng, Maggie C. Y.
    Publication type:
    Article

  • Identifying tagging SNPs for African specific genetic variation from the African Diaspora Genome.

    Published in:
    Scientific Reports, 2017, p. 46398, doi. 10.1038/srep46398
    By:
    • Johnston, Henry Richard;
    • Hu, Yi-Juan;
    • Gao, Jingjing;
    • O'Connor, Timothy D.;
    • Abecasis, Gonçalo R.;
    • Wojcik, Genevieve L;
    • Gignoux, Christopher R.;
    • Gourraud, Pierre-Antoine;
    • Lizee, Antoine;
    • Hansen, Mark;
    • Genuario, Rob;
    • Bullis, Dave;
    • Lawley, Cindy;
    • Kenny, Eimear E.;
    • Bustamante, Carlos;
    • Beaty, Terri H.;
    • Mathias, Rasika A.;
    • Barnes, Kathleen C.;
    • Qin, Zhaohui S.
    Publication type:
    Article

  • Correction to: Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits.

    Published in:
    2019
    By:
    • Glicksberg, Benjamin S.;
    • Amadori, Letizia;
    • Akers, Nicholas K.;
    • Sukhavasi, Katyayani;
    • Franzén, Oscar;
    • Li, Li;
    • Belbin, Gillian M.;
    • Ayers, Kristin L.;
    • Shameer, Khader;
    • Badgeley, Marcus A.;
    • Johnson, Kipp W.;
    • Readhead, Ben;
    • Darrow, Bruce J.;
    • Kenny, Eimear E.;
    • Betsholtz, Christer;
    • Ermel, Raili;
    • Skogsberg, Josefin;
    • Ruusalepp, Arno;
    • Schadt, Eric E.;
    • Dudley, Joel T.
    Publication type:
    Correction Notice

  • Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits.

    Published in:
    BMC Medical Genomics, 2019, v. 12, n. 6, p. N.PAG, doi. 10.1186/s12920-019-0542-3
    By:
    • Glicksberg, Benjamin S.;
    • Amadori, Letizia;
    • Akers, Nicholas K.;
    • Sukhavasi, Katyayani;
    • Franzén, Oscar;
    • Li, Li;
    • Belbin, Gillian M.;
    • Akers, Kristin L.;
    • Shameer, Khader;
    • Badgeley, Marcus A.;
    • Johnson, Kipp W.;
    • Readhead, Ben;
    • Darrow, Bruce J.;
    • Kenny, Eimear E.;
    • Betsholtz, Christer;
    • Ermel, Raili;
    • Skogsberg, Josefin;
    • Ruusalepp, Arno;
    • Schadt, Eric E.;
    • Dudley, Joel T.
    Publication type:
    Article

  • An Ethical Framework for Research Using Genetic Ancestry.

    Published in:
    Perspectives in Biology & Medicine, 2023, v. 66, n. 2, p. 225, doi. 10.1353/pbm.2023.0021
    By:
    • Lewis, Anna C. F.;
    • Molina, Santiago J.;
    • Appelbaum, Paul S.;
    • Dauda, Bege;
    • Fuentes, Agustin;
    • Fullerton, Stephanie M.;
    • Garrison, Nanibaa' A.;
    • Ghosh, Nayanika;
    • Green, Robert C.;
    • Hammonds, Evelynn M.;
    • Jeff, Janina M.;
    • Jones, David S.;
    • Kenny, Eimear E.;
    • Kraft, Peter;
    • Mauro, Madelyn;
    • Ori, Anil P. S.;
    • Panofsky, Aaron;
    • Sohail, Mashaal;
    • Neale, Benjamin M.;
    • Allen, Danielle S.
    Publication type:
    Article

  • WormBase: better software, richer content.

    Published in:
    Nucleic Acids Research, 2006, v. 34, n. suppl 1, p. d475, doi. 10.1093/nar/gkj061
    By:
    • Schwarz, Erich M.;
    • Antoshechkin, Igor;
    • Bastiani, Carol;
    • Bieri, Tamberlyn;
    • Blasiar, Darin;
    • Canaran, Payan;
    • Chan, Juancarlos;
    • Chen, Nansheng;
    • Chen, Wen J.;
    • Davis, Paul;
    • Fiedler, Tristan J.;
    • Girard, Lisa;
    • Harris, Todd W.;
    • Kenny, Eimear E.;
    • Kishore, Ranjana;
    • Lawson, Dan;
    • Lee, Raymond;
    • Müller, Hans-Michael;
    • Nakamura, Cecilia;
    • Ozersky, Phil
    Publication type:
    Article

  • Genomic Screening Identifies Individuals at High Risk for Hereditary Transthyretin Amyloidosis.

    Published in:
    Journal of Personalized Medicine, 2021, v. 11, n. 1, p. 49, doi. 10.3390/jpm11010049
    By:
    • Soper, Emily R.;
    • Suckiel, Sabrina A.;
    • Braganza, Giovanna T.;
    • Kontorovich, Amy R.;
    • Kenny, Eimear E.;
    • Abul-Husn, Noura S.
    Publication type:
    Article

  • TOPORS as a novel causal gene for Joubert syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2156, doi. 10.1002/ajmg.a.63303
    By:
    • Strong, Alanna;
    • Qu, Hui‐Qi;
    • Cullina, Sinéad;
    • McManus, Morgan L.;
    • Zackai, Elaine H.;
    • Glessner, Joseph;
    • Kenny, Eimear E.;
    • Hakonarson, Hakon
    Publication type:
    Article

  • The Great Migration and African-American Genomic Diversity.

    Published in:
    PLoS Genetics, 2016, v. 12, n. 5, p. 1, doi. 10.1371/journal.pgen.1006059
    By:
    • Baharian, Soheil;
    • Barakatt, Maxime;
    • Gignoux, Christopher R.;
    • Shringarpure, Suyash;
    • Errington, Jacob;
    • Blot, William J.;
    • Bustamante, Carlos D.;
    • Kenny, Eimear E.;
    • Williams, Scott M.;
    • Aldrich, Melinda C.;
    • Gravel, Simon
    Publication type:
    Article

  • GBStools: A Statistical Method for Estimating Allelic Dropout in Reduced Representation Sequencing Data.

    Published in:
    PLoS Genetics, 2016, v. 12, n. 2, p. 1, doi. 10.1371/journal.pgen.1005631
    By:
    • Cooke, Thomas F.;
    • Yee, Muh-Ching;
    • Muzzio, Marina;
    • Sockell, Alexandra;
    • Bell, Ryan;
    • Cornejo, Omar E.;
    • Kelley, Joanna L.;
    • Bailliet, Graciela;
    • Bravi, Claudio M.;
    • Bustamante, Carlos D.;
    • Kenny, Eimear E.
    Publication type:
    Article