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 Custom Filters

Results by year

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

Year Number of Results
2004 1
2007 2
2013 1
2017 2
2018 1
2022 1
2024 1
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

8 results

Results by year

Filters applied: . Clear all
Page 1
Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.
Blue EE, Moore KJ, North KE, Desrosiers TA, Carmichael SL, White JJ, Chong JX, Bamshad MJ, Jenkins MM, Almli LM, Brody LC, Freedman SF, Reefhuis J, Romitti PA, Shaw GM, Werler M, Kay DM, Browne ML, Feldkamp ML, Finnell RH, Nembhard WN, Pangilinan F, Olshan AF; National Institutes of Health Intramural Sequencing Center; University of Washington Center for Mendelian Genomics; National Birth Defects Prevention Study. Blue EE, et al. Birth Defects Res. 2024 Jul;116(7):e2384. doi: 10.1002/bdr2.2384. Birth Defects Res. 2024. PMID: 38990107 Free PMC article.
A recurrent inversion on the eutherian X chromosome.
Cáceres M; National Institutes of Health Intramural Sequencing Center Comparative Sequencing Program; Sullivan RT, Thomas JW. Cáceres M, et al. Proc Natl Acad Sci U S A. 2007 Nov 20;104(47):18571-6. doi: 10.1073/pnas.0706604104. Epub 2007 Nov 14. Proc Natl Acad Sci U S A. 2007. PMID: 18003915 Free PMC article.
Identifying gene regulatory elements by genome-wide recovery of DNase hypersensitive sites.
Crawford GE, Holt IE, Mullikin JC, Tai D, Blakesley R, Bouffard G, Young A, Masiello C, Green ED, Wolfsberg TG, Collins FS; National Institutes Of Health Intramural Sequencing Center. Crawford GE, et al. Proc Natl Acad Sci U S A. 2004 Jan 27;101(4):992-7. doi: 10.1073/pnas.0307540100. Epub 2004 Jan 19. Proc Natl Acad Sci U S A. 2004. PMID: 14732688 Free PMC article.
Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants.
Parker SC, Stitzel ML, Taylor DL, Orozco JM, Erdos MR, Akiyama JA, van Bueren KL, Chines PS, Narisu N; NISC Comparative Sequencing Program; Black BL, Visel A, Pennacchio LA, Collins FS; National Institutes of Health Intramural Sequencing Center Comparative Sequencing Program Authors; NISC Comparative Sequencing Program Authors. Parker SC, et al. Proc Natl Acad Sci U S A. 2013 Oct 29;110(44):17921-6. doi: 10.1073/pnas.1317023110. Epub 2013 Oct 14. Proc Natl Acad Sci U S A. 2013. PMID: 24127591 Free PMC article.
A Type 2 Diabetes-Associated Functional Regulatory Variant in a Pancreatic Islet Enhancer at the ADCY5 Locus.
Roman TS, Cannon ME, Vadlamudi S, Buchkovich ML, Wolford BN, Welch RP, Morken MA, Kwon GJ, Varshney A, Kursawe R, Wu Y, Jackson AU; National Institutes of Health Intramural Sequencing Center (NISC) Comparative Sequencing Program; Erdos MR, Kuusisto J, Laakso M, Scott LJ, Boehnke M, Collins FS, Parker SCJ, Stitzel ML, Mohlke KL. Roman TS, et al. Diabetes. 2017 Sep;66(9):2521-2530. doi: 10.2337/db17-0464. Epub 2017 Jul 6. Diabetes. 2017. PMID: 28684635 Free PMC article.