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Year Number of Results
2014 1
2015 2
2016 5
2017 5
2018 3
2019 2
2020 1
2021 2
2022 3
2024 0

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19 results

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Page 1
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. 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.
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. 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.
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.
Justice CM, Cuellar A, Bala K, Sabourin JA, Cunningham ML, Crawford K, Phipps JM, Zhou Y, Cilliers D, Byren JC, Johnson D, Wall SA, Morton JEV, Noons P, Sweeney E, Weber A, Rees KEM, Wilson LC, Simeonov E, Kaneva R, Yaneva N, Georgiev K, Bussarsky A, Senders C, Zwienenberg M, Boggan J, Roscioli T, Tamburrini G, Barba M, Conway K, Sheffield VC, Brody L, Mills JL, Kay D, Sicko RJ, Langlois PH, Tittle RK, Botto LD, Jenkins MM, LaSalle JM, Lattanzi W, Wilkie AOM, Wilson AF, Romitti PA, Boyadjiev SA; National Birth Defects Prevention Study. Justice CM, et al. Hum Genet. 2020 Aug;139(8):1077-1090. doi: 10.1007/s00439-020-02157-z. Epub 2020 Apr 7. Hum Genet. 2020. PMID: 32266521 Free PMC article.
Genomic analyses in African populations identify novel risk loci for cleft palate.
Butali A, Mossey PA, Adeyemo WL, Eshete MA, Gowans LJJ, Busch TD, Jain D, Yu W, Huan L, Laurie CA, Laurie CC, Nelson S, Li M, Sanchez-Lara PA, Magee WP, Magee KS, Auslander A, Brindopke F, Kay DM, Caggana M, Romitti PA, Mills JL, Audu R, Onwuamah C, Oseni GO, Owais A, James O, Olaitan PB, Aregbesola BS, Braimah RO, Oginni FO, Oladele AO, Bello SA, Rhodes J, Shiang R, Donkor P, Obiri-Yeboah S, Arthur FKN, Twumasi P, Agbenorku P, Plange-Rhule G, Oti AA, Ogunlewe OM, Oladega AA, Adekunle AA, Erinoso AO, Adamson OO, Elufowoju AA, Ayelomi OI, Hailu T, Hailu A, Demissie Y, Derebew M, Eliason S, Romero-Bustillous M, Lo C, Park J, Desai S, Mohammed M, Abate F, Abdur-Rahman LO, Anand D, Saadi I, Oladugba AV, Lachke SA, Amendt BA, Rotimi CN, Marazita ML, Cornell RA, Murray JC, Adeyemo AA. Butali A, et al. Hum Mol Genet. 2019 Mar 15;28(6):1038-1051. doi: 10.1093/hmg/ddy402. Hum Mol Genet. 2019. PMID: 30452639 Free PMC article.
Endocrine disrupting chemicals in seminal plasma and couple fecundity.
Buck Louis GM, Smarr MM, Sun L, Chen Z, Honda M, Wang W, Karthikraj R, Weck J, Kannan K. Buck Louis GM, et al. Environ Res. 2018 May;163:64-70. doi: 10.1016/j.envres.2018.01.028. Epub 2018 Feb 22. Environ Res. 2018. PMID: 29426029 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. PLoS One. 2017 Dec 7;12(12):e0188168. doi: 10.1371/journal.pone.0188168. eCollection 2017. PLoS One. 2017. PMID: 29216221 Free PMC article.
19 results