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Predicting genes from phenotypes using human phenotype ontology (HPO) terms.
Published in:
Human Genetics, 2022, v. 141, n. 11, p. 1749, doi. 10.1007/s00439-022-02449-6
By:
- Slavotinek, Anne;
- Prasad, Hannah;
- Yip, Tiffany;
- Rego, Shannon;
- Hoban, Hannah;
- Kvale, Mark
Publication type:
Article
Segmentation and Estimation for SNP Microarrays: A Bayesian Multiple Change-Point Approach.
Published in:
Biometrics, 2010, v. 66, n. 3, p. 675, doi. 10.1111/j.1541-0420.2009.01328.x
By:
- Yu Chuan Tai;
- Kvale, Mark N.;
- Witte, John S.
Publication type:
Article
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population.
Published in:
NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-023-00385-6
By:
- Mavura, Yusuph;
- Sahin-Hodoglugil, Nuriye;
- Hodoglugil, Ugur;
- Kvale, Mark;
- Martin, Pierre-Marie;
- Van Ziffle, Jessica;
- Devine, W. Patrick;
- Ackerman, Sara L.;
- Koenig, Barbara A.;
- Kwok, Pui-Yan;
- Norton, Mary E.;
- Slavotinek, Anne;
- Risch, Neil
Publication type:
Article
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Published in:
2023
By:
- Slavotinek, Anne;
- Rego, Shannon;
- Sahin-Hodoglugil, Nuriye;
- Kvale, Mark;
- Lianoglou, Billie;
- Yip, Tiffany;
- Hoban, Hannah;
- Outram, Simon;
- Anguiano, Beatrice;
- Chen, Flavia;
- Michelson, Jeremy;
- Cilio, Roberta M.;
- Curry, Cynthia;
- Gallagher, Renata C.;
- Gardner, Marisa;
- Kuperman, Rachel;
- Mendelsohn, Bryce;
- Sherr, Elliott;
- Shieh, Joseph;
- Strober, Jonathan
Publication type:
Correction Notice
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Published in:
NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00353-0
By:
- Slavotinek, Anne;
- Rego, Shannon;
- Sahin-Hodoglugil, Nuriye;
- Kvale, Mark;
- Lianoglou, Billie;
- Yip, Tiffany;
- Hoban, Hannah;
- Outram, Simon;
- Anguiano, Beatrice;
- Chen, Flavia;
- Michelson, Jeremy;
- Cilio, Roberta M.;
- Curry, Cynthia;
- Gallagher, Renata C.;
- Gardner, Marisa;
- Kuperman, Rachel;
- Mendelsohn, Bryce;
- Sherr, Elliott;
- Shieh, Joseph;
- Strober, Jonathan
Publication type:
Article
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Published in:
NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00353-0
By:
- Slavotinek, Anne;
- Rego, Shannon;
- Sahin-Hodoglugil, Nuriye;
- Kvale, Mark;
- Lianoglou, Billie;
- Yip, Tiffany;
- Hoban, Hannah;
- Outram, Simon;
- Anguiano, Beatrice;
- Chen, Flavia;
- Michelson, Jeremy;
- Cilio, Roberta M.;
- Curry, Cynthia;
- Gallagher, Renata C.;
- Gardner, Marisa;
- Kuperman, Rachel;
- Mendelsohn, Bryce;
- Sherr, Elliott;
- Shieh, Joseph;
- Strober, Jonathan
Publication type:
Article
Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations.
Published in:
Communications Biology, 2020, v. 3, n. 1, p. 1, doi. 10.1038/s42003-020-01461-8
By:
- Jorgenson, Eric;
- Choquet, Hélène;
- Yin, Jie;
- Hoffmann, Thomas J.;
- Banda, Yambazi;
- Kvale, Mark N.;
- Risch, Neil;
- Schaefer, Catherine;
- Asgari, Maryam M.
Publication type:
Article
A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness.
Published in:
Communications Biology, 2020, v. 3, n. 1, p. 1, doi. 10.1038/s42003-020-1037-7
By:
- Choquet, Hélène;
- Melles, Ronald B.;
- Yin, Jie;
- Hoffmann, Thomas J.;
- Thai, Khanh K.;
- Kvale, Mark N.;
- Banda, Yambazi;
- Hardcastle, Alison J.;
- Tuft, Stephen J.;
- Glymour, M. Maria;
- Schaefer, Catherine;
- Risch, Neil;
- Nair, K. Saidas;
- Hysi, Pirro G.;
- Jorgenson, Eric
Publication type:
Article
A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.
Published in:
Genetics, 2018, v. 210, n. 2, p. 499, doi. 10.1534/genetics.118.301479
By:
- Hoffmann, Thomas J.;
- Choquet, Hélène;
- Jie Yin;
- Banda, Yambazi;
- Kvale, Mark N.;
- Glymour, Maria;
- Schaefer, Catherine;
- Risch, Neil;
- Jorgenson, Eric
Publication type:
Article
Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.
Published in:
Genetics, 2015, v. 200, n. 4, p. 1285, doi. 10.1534/genetics.115.178616
By:
- Banda, Yambazi;
- Kvale, Mark N.;
- Hoffmann, Thomas J.;
- Hesselson, Stephanie E.;
- Ranatunga, Dilrini;
- Hua Tang;
- Sabatti, Chiara;
- Croen, Lisa A.;
- Dispensa, Brad P.;
- Henderson, Mary;
- Iribarren, Carlos;
- Jorgenson, Eric;
- Kushi, Lawrence H.;
- Ludwig, Dana;
- Olberg, Diane;
- Quesenberry Jr., Charles P.;
- Rowell, Sarah;
- Sadler, Marianne;
- Sakoda, Lori C.;
- Sciortino, Stanley
Publication type:
Article
Automated Assay of Telomere Length Measurement and Informatics for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.
Published in:
Genetics, 2015, v. 200, n. 4, p. 1061, doi. 10.1534/genetics.115.178624
By:
- Lapham, Kyle;
- Kvale, Mark N.;
- Jue Lin;
- Connell, Sheryl;
- Croen, Lisa A.;
- Dispensa, Brad P.;
- Lynn Fang;
- Hesselson, Stephanie;
- Hoffmann, Thomas J.;
- Iribarren, Carlos;
- Jorgenson, Eric;
- Kushi, Lawrence H.;
- Ludwig, Dana;
- Tetsuya Matsuguchi;
- McGuire, William B.;
- Miles, Sunita;
- Quesenberry Jr., Charles P.;
- Rowell, Sarah;
- Sadler, Marianne;
- Sakoda, Lori C.
Publication type:
Article
Genotyping Informatics and Quality Control for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.
Published in:
Genetics, 2015, v. 200, n. 4, p. 1051, doi. 10.1534/genetics.115.178905
By:
- Kvale, Mark N.;
- Hesselson, Stephanie;
- Hoffmann, Thomas J.;
- Yang Cao;
- Chan, David;
- Connell, Sheryl;
- Croen, Lisa A.;
- Dispensa, Brad P.;
- Eshragh, Jasmin;
- Finn, Andrea;
- Gollub, Jeremy;
- Iribarren, Carlos;
- Jorgenson, Eric;
- Kushi, Lawrence H.;
- Lao, Richard;
- Yontao Lu;
- Ludwig, Dana;
- Mathauda, Gurpreet K.;
- McGuire, William B.;
- Gangwu Mei
Publication type:
Article
A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04555-4
By:
- Choquet, Hélène;
- Paylakhi, Seyyedhassan;
- Kneeland, Stephen C.;
- Thai, Khanh K.;
- Hoffmann, Thomas J.;
- Jie Yin;
- Kvale, Mark N.;
- Banda, Yambazi;
- Tolman, Nicholas G.;
- Williams, Pete A.;
- Schaefer, Catherine;
- Melles, Ronald B.;
- Risch, Neil;
- John, Simon W. M.;
- Nair, K. Saidas;
- Jorgenson, Eric
Publication type:
Article
A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure.
Published in:
Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01913-6
By:
- Choquet, Hélène;
- Thai, Khanh K.;
- Jie Yin;
- Hoffmann, Thomas J.;
- Kvale, Mark N.;
- Banda, Yambazi;
- Schaefer, Catherine;
- Risch, Neil;
- Saidas Nair, K.;
- Melles, Ronald;
- Jorgensonad, Eric
Publication type:
Article
Imputation of the Rare HOXB13 G84E Mutation and Cancer Risk in a Large Population-Based Cohort.
Published in:
PLoS Genetics, 2015, v. 11, n. 1, p. 1, doi. 10.1371/journal.pgen.1004930
By:
- Hoffmann, Thomas J.;
- Sakoda, Lori C.;
- Shen, Ling;
- Jorgenson, Eric;
- Habel, Laurel A.;
- Liu, Jinghua;
- Kvale, Mark N.;
- Asgari, Maryam M.;
- Banda, Yambazi;
- Corley, Douglas;
- Kushi, Lawrence H.;
- Jr.Quesenberry, Charles P.;
- Schaefer, Catherine;
- Van Den Eeden, Stephen K.;
- Risch, Neil;
- Witte, John S.
Publication type:
Article
Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification.
Published in:
Human Mutation, 2018, v. 39, n. 1, p. 167, doi. 10.1002/humu.23356
By:
- Bassaganyas, Laia;
- Freedman, George;
- Vaka, Dedeepya;
- Wan, Eunice;
- Lao, Richard;
- Chen, Flavia;
- Kvale, Mark;
- Currier, Robert J.;
- Puck, Jennifer M.;
- Kwok, Pui‐Yan
Publication type:
Article
VALID: visualization of association study results and linkage disequilibrium.
Published in:
Genetic Epidemiology, 2009, v. 33, n. 7, p. 599, doi. 10.1002/gepi.20411
By:
- Jorgenson, Eric;
- Kvale, Mark;
- Witte, John S.
Publication type:
Article

Found: 17