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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 1
1992 1
2004 1
2009 2
2010 2
2011 3
2014 1
2015 7
2016 1
2017 5
2018 4
2019 1
2020 4
2021 3
2022 2
2023 5
2024 1
2025 3
2026 4

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48 results

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Page 1
The role of exome sequencing in newborn screening for inborn errors of metabolism.
Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL, Randi SS, Sanford J, Shieh JT, Srinivasan R, Sunderam U, Tang H, Vaka D, Zou Y, Koenig BA, Kwok PY, Risch N, Puck JM, Brenner SE. Adhikari AN, et al. Among authors: kvale m. Nat Med. 2020 Sep;26(9):1392-1397. doi: 10.1038/s41591-020-0966-5. Epub 2020 Aug 10. Nat Med. 2020. PMID: 32778825 Free PMC article.
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME. Slavotinek A, et al. Among authors: kvale m. NPJ Genom Med. 2023 May 26;8(1):10. doi: 10.1038/s41525-023-00353-0. NPJ Genom Med. 2023. PMID: 37236975 Free PMC article.
Leveraging sequences missing from the human genome to diagnose cancer.
Georgakopoulos-Soares I, Yizhar-Barnea O, Mouratidis I, Chan CSY, Patsakis M, Nayak A, Bradley R, Mahajan M, Sims J, Cintron DL, Easterlin R, Kim JS, Chen E, Pineda G, Parada GE, Witte JS, Maher CA, Feng F, Vathiotis I, Syrigos N, Panagiotou E, Charpidou A, Syrigos K, Chapman J, Kvale M, Hemberg M, Ahituv N. Georgakopoulos-Soares I, et al. Among authors: kvale m. Commun Med (Lond). 2025 Aug 21;5(1):363. doi: 10.1038/s43856-025-01067-3. Commun Med (Lond). 2025. PMID: 40841759 Free PMC article.
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X, Goes FS, Locke AE, Palmer D, Wang W, Cohen-Woods S, Genovese G, Jackson AU, Jiang C, Kvale M, Mullins N, Nguyen H, Pirooznia M, Rivera M, Ruderfer DM, Shen L, Thai K, Zawistowski M, Zhuang Y, Abecasis G, Akil H, Bergen S, Burmeister M, Chapman S, DelaBastide M, Juréus A, Kang HM, Kwok PY, Li JZ, Levy SE, Monson ET, Moran J, Sobell J, Watson S, Willour V, Zöllner S, Adolfsson R, Blackwood D, Boehnke M, Breen G, Corvin A, Craddock N, DiFlorio A, Hultman CM, Landen M, Lewis C, McCarroll SA, Richard McCombie W, McGuffin P, McIntosh A, McQuillin A, Morris D, Myers RM, O'Donovan M, Ophoff R, Boks M, Kahn R, Ouwehand W, Owen M, Pato C, Pato M, Posthuma D, Potash JB, Reif A, Sklar P, Smoller J, Sullivan PF, Vincent J, Walters J, Neale B, Purcell S, Risch N, Schaefer C, Stahl EA, Zandi PP, Scott LJ. Jia X, et al. Among authors: kvale m. Mol Psychiatry. 2021 Sep;26(9):5239-5250. doi: 10.1038/s41380-020-01006-9. Epub 2021 Jan 22. Mol Psychiatry. 2021. PMID: 33483695 Free PMC article.
Risk factors for inguinal hernia repair among US adults.
Cowan B, Kvale M, Yin J, Patel S, Jorgenson E, Mostaedi R, Choquet H. Cowan B, et al. Among authors: kvale m. Hernia. 2023 Dec;27(6):1507-1514. doi: 10.1007/s10029-023-02913-w. Epub 2023 Nov 10. Hernia. 2023. PMID: 37947923 Free PMC article.
A large electronic-health-record-based genome-wide study of serum lipids.
Hoffmann TJ, Theusch E, Haldar T, Ranatunga DK, Jorgenson E, Medina MW, Kvale MN, Kwok PY, Schaefer C, Krauss RM, Iribarren C, Risch N. Hoffmann TJ, et al. Among authors: kvale mn. Nat Genet. 2018 Mar;50(3):401-413. doi: 10.1038/s41588-018-0064-5. Epub 2018 Mar 5. Nat Genet. 2018. PMID: 29507422 Free PMC article.
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population.
Mavura Y, Sahin-Hodoglugil N, Hodoglugil U, Kvale M, Martin PM, Van Ziffle J, Devine WP, Ackerman SL, Koenig BA, Kwok PY, Norton ME, Slavotinek A, Risch N. Mavura Y, et al. Among authors: kvale m. NPJ Genom Med. 2024 Jan 3;9(1):1. doi: 10.1038/s41525-023-00385-6. NPJ Genom Med. 2024. PMID: 38172272 Free PMC article.
48 results