Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2005 1
2006 3
2007 3
2008 5
2010 4
2011 5
2012 6
2013 1
2014 4
2015 5
2016 8
2017 8
2018 3
2019 3
2020 3
2021 5
2022 8
2023 2
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

66 results

Results by year

Filters applied: . Clear all
Page 1
Variability in evaluation and follow-up of newborns with CRMS/CFSPID in New York State.
Kier C, Kay DM, Langfelder-Schwind E, Goetz DM, Berdella M, DeCelie-Germana JK, Soultan ZN, Caggana M, Fortner CN, Giusti R, Kaslovsky R, Voter K, Welter JJ; New York State Cystic Fibrosis Newborn Screening Consortium; Sadeghi H. Kier C, et al. Among authors: kay dm. Pediatr Pulmonol. 2024 May;59(5):1511-1513. doi: 10.1002/ppul.26928. Epub 2024 Mar 1. Pediatr Pulmonol. 2024. PMID: 38426813 No abstract available.
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
Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors.
Kharrazi M, Sacramento C, Comeau AM, Hale JE, Caggana M, Kay DM, Lee R, Reilly B, Thompson JD, Nasr SZ, Kleyn M, Hoffman G, Baker MW, Clarke C, Harris CL, Dorley MC, Fryman H, Sutaria A, Hietala A, Winslow H, Richards H, Therrell BL. Kharrazi M, et al. Among authors: kay dm. Int J Neonatal Screen. 2022 Oct 27;8(4):58. doi: 10.3390/ijns8040058. Int J Neonatal Screen. 2022. PMID: 36412584 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.
Utility of Newborn Dried Blood Spots to Ascertain Seroprevalence of SARS-CoV-2 Antibodies Among Individuals Giving Birth in New York State, November 2019 to November 2021.
Damjanovic A, Styer LM, Nemeth K, Yauney E, Rock JM, Bievenue R, Hoen R, Ehrbar D, Kay DM, Caggana M, Parker MM. Damjanovic A, et al. Among authors: kay dm. JAMA Netw Open. 2022 Aug 1;5(8):e2227995. doi: 10.1001/jamanetworkopen.2022.27995. JAMA Netw Open. 2022. PMID: 35994287 Free PMC article.
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.
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.
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
Pangilinan F, Watkins D, Bernard D, Chen Y, Dong N, Wu Q, Ozel-Abaan H, Kaur M, Caggana M, Morrissey M, Browne ML, Mills JL, Van Ryzin C, Shchelochkov O, Sloan J, Venditti CP, Sarafoglou K, Rosenblatt DS, Kay DM, Brody LC. Pangilinan F, et al. Among authors: kay dm. Am J Med Genet A. 2022 Apr;188(4):1124-1141. doi: 10.1002/ajmg.a.62627. Epub 2022 Feb 2. Am J Med Genet A. 2022. PMID: 35107211 Free PMC article.
66 results