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

Year Number of Results
1969 2
1999 1
2005 1
2006 3
2007 3
2008 5
2010 5
2011 5
2012 7
2013 2
2014 4
2015 5
2016 8
2017 8
2018 3
2019 3
2020 3
2021 5
2022 8
2023 2
2024 1

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71 results

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Page 1
Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome.
Blue EE, White JJ, Dush MK, Gordon WW, Wyatt BH, White P, Marvin CT, Helle E, Ojala T, Priest JR, Jenkins MM, Almli LM, Reefhuis J, Pangilinan F, Brody LC, McBride KL, Garg V, Shaw GM, Romitti PA, Nembhard WN, Browne ML, Werler MM, Kay DM; National Birth Defects Prevention Study; University of Washington Center for Mendelian Genomics; Mital S, Chong JX, Nascone-Yoder NM, Bamshad MJ. Blue EE, et al. Among authors: kay dm. HGG Adv. 2023 Aug 12;4(4):100232. doi: 10.1016/j.xhgg.2023.100232. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37663545 Free PMC article.
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.
Sok P, Sabo A, Almli LM, Jenkins MM, Nembhard WN, Agopian AJ, Bamshad MJ, Blue EE, Brody LC, Brown AL, Browne ML, Canfield MA, Carmichael SL, Chong JX, Dugan-Perez S, Feldkamp ML, Finnell RH, Gibbs RA, Kay DM, Lei Y, Meng Q, Moore CA, Mullikin JC, Muzny D, Olshan AF, Pangilinan F, Reefhuis J, Romitti PA, Schraw JM, Shaw GM, Werler MM, Harpavat S, Lupo PJ; University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program, the National Birth Defects Prevention Study. Sok P, et al. Among authors: kay dm. Am J Med Genet A. 2023 Jun;191(6):1546-1556. doi: 10.1002/ajmg.a.63185. Epub 2023 Mar 21. Am J Med Genet A. 2023. PMID: 36942736
Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years.
Lee BH, Deng S, Chiriboga CA, Kay DM, Irumudomon O, Laureta E, Delfiner L, Treidler SO, Anziska Y, Sakonju A, Kois C, Farooq O, Engelstad K, Laurenzano A, Hogan K, Caggana M, Saavedra-Matiz CA, Stevens CF, Ciafaloni E. Lee BH, et al. Among authors: kay dm. Neurology. 2022 Oct 3;99(14):e1527-e1537. doi: 10.1212/WNL.0000000000200986. Neurology. 2022. PMID: 35835557 Free PMC article.
Copy number variants in Ebstein anomaly.
Giannakou A, Sicko RJ, Zhang W, Romitti P, Browne ML, Caggana M, Brody LC, Jelliffe-Pawlowski L, Shaw GM, Kay DM, Mills JL. Giannakou A, et al. Among authors: kay dm. PLoS One. 2017 Dec 7;12(12):e0188168. doi: 10.1371/journal.pone.0188168. eCollection 2017. PLoS One. 2017. PMID: 29216221 Free PMC article.
Exome sequencing identifies variants in infants with sacral agenesis.
Pitsava G, Feldkamp ML, Pankratz N, Lane J, Kay DM, Conway KM, Hobbs C, Shaw GM, Reefhuis J, Jenkins MM, Almli LM, Moore C, Werler M, Browne ML, Cunniff C, Olshan AF, Pangilinan F, Brody LC, Sicko RJ, Finnell RH, Bamshad MJ, McGoldrick D, Nickerson DA, Mullikin JC, Romitti PA, Mills JL; UW Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study. Pitsava G, et al. Among authors: kay dm. Birth Defects Res. 2022 Apr;114(7):215-227. doi: 10.1002/bdr2.1987. Epub 2022 Mar 10. Birth Defects Res. 2022. PMID: 35274497 Free PMC article.
Genetic drivers of Cushing's disease: Frequency and associated phenotypes.
Hernández-Ramírez LC, Pankratz N, Lane J, Faucz FR, Chittiboina P, Kay DM, Beethem Z, Mills JL, Stratakis CA. Hernández-Ramírez LC, et al. Among authors: kay dm. Genet Med. 2022 Dec;24(12):2516-2525. doi: 10.1016/j.gim.2022.08.021. Epub 2022 Sep 23. Genet Med. 2022. PMID: 36149413 Free PMC article.
Whole Exome Sequencing in Patients With Ectopic Posterior Pituitary.
Silva TS, Faucz FR, Hernández-Ramírez LC, Pankratz N, Lane J, Kay DM, Lyra A, Kochi C, Stratakis CA, Longui CA, Mills JL. Silva TS, et al. Among authors: kay dm. J Endocr Soc. 2022 Aug 11;6(10):bvac116. doi: 10.1210/jendso/bvac116. eCollection 2022 Oct 1. J Endocr Soc. 2022. PMID: 36042976 Free PMC article.
Corticotropinoma as a Component of Carney Complex.
Hernández-Ramírez LC, Tatsi C, Lodish MB, Faucz FR, Pankratz N, Chittiboina P, Lane J, Kay DM, Valdés N, Dimopoulos A, Mills JL, Stratakis CA. Hernández-Ramírez LC, et al. Among authors: kay dm. J Endocr Soc. 2017 May 30;1(7):918-925. doi: 10.1210/js.2017-00231. eCollection 2017 Jul 1. J Endocr Soc. 2017. PMID: 29264542 Free PMC article.
Copy number variants in hypoplastic right heart syndrome.
Giannakou A, Sicko RJ, Kay DM, Zhang W, Romitti PA, Caggana M, Shaw GM, Jelliffe-Pawlowski LL, Mills JL. Giannakou A, et al. Among authors: kay dm. Am J Med Genet A. 2018 Dec;176(12):2760-2767. doi: 10.1002/ajmg.a.40527. Epub 2018 Oct 5. Am J Med Genet A. 2018. PMID: 30289599
Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.
Pitsava G, Feldkamp ML, Pankratz N, Lane J, Kay DM, Conway KM, Shaw GM, Reefhuis J, Jenkins MM, Almli LM, Olshan AF, Pangilinan F, Brody LC, Sicko RJ, Hobbs CA, Bamshad M, McGoldrick D, Nickerson DA, Finnell RH, Mullikin J, Romitti PA, Mills JL; University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study. Pitsava G, et al. Among authors: kay dm. Am J Med Genet A. 2021 Oct;185(10):3028-3041. doi: 10.1002/ajmg.a.62439. Epub 2021 Aug 5. Am J Med Genet A. 2021. PMID: 34355505 Free PMC article.
71 results