Kucera KS - Search Results

1

A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check.

Kucera KS, Taylor JL, Robles VR, Clinard K, Migliore B, Boyea BL, Okoniewski KC, Duparc M, Rehder CW, Shone SM, Fan Z, Raspa M, Peay HL, Wheeler AC, Powell CM, Bailey DB Jr, Gehtland LM. Kucera KS, et al. Int J Neonatal Screen. 2021 Mar 21;7(1):20. doi: 10.3390/ijns7010020. Int J Neonatal Screen. 2021. PMID: 33801060 Free PMC article.

2

Evaluation of the GSP Creatine Kinase-MM Assay and Assessment of CK-MM Stability in Newborn, Patient, and Contrived Dried Blood Spots for Newborn Screening for Duchenne Muscular Dystrophy.

Migliore BA, Zhou L, Duparc M, Robles VR, Rehder CW, Peay HL, Kucera KS. Migliore BA, et al. Among authors: kucera ks. Int J Neonatal Screen. 2022 Jan 28;8(1):12. doi: 10.3390/ijns8010012. Int J Neonatal Screen. 2022. PMID: 35225934 Free PMC article.

3

Improved Dried Blood Spot PCR Assay for Universal Congenital Cytomegalovirus Screening in Newborns.

Kim JH, Robles V, Weimer KED, Gehtland LM, Kucera KS. Kim JH, et al. Among authors: kucera ks. Microbiol Spectr. 2023 Mar 20;11(2):e0404122. doi: 10.1128/spectrum.04041-22. Online ahead of print. Microbiol Spectr. 2023. PMID: 36939327 Free PMC article.

4

Multi-Laboratory Evaluation of Prototype Dried Blood Spot Quality Control Materials for Creatine Kinase-MM Newborn Screening Assays.

Dantonio P, Tavakoli NP, Migliore B, McCown E, Lim T, Park S, Caggana M, Kucera KS, Phan H, Street N, Petritis K, Vogt RF. Dantonio P, et al. Among authors: kucera ks. Int J Neonatal Screen. 2023 Feb 28;9(1):13. doi: 10.3390/ijns9010013. Int J Neonatal Screen. 2023. PMID: 36975851 Free PMC article.

5

Callipyge mutation affects gene expression in cis: a potential role for chromatin structure.

Murphy SK, Nolan CM, Huang Z, Kucera KS, Freking BA, Smith TP, Leymaster KA, Weidman JR, Jirtle RL. Murphy SK, et al. Among authors: kucera ks. Genome Res. 2006 Mar;16(3):340-6. doi: 10.1101/gr.4389306. Epub 2006 Jan 13. Genome Res. 2006. PMID: 16415109 Free PMC article.

6

Effects of sequence variation on differential allelic transcription factor occupancy and gene expression.

Reddy TE, Gertz J, Pauli F, Kucera KS, Varley KE, Newberry KM, Marinov GK, Mortazavi A, Williams BA, Song L, Crawford GE, Wold B, Willard HF, Myers RM. Reddy TE, et al. Among authors: kucera ks. Genome Res. 2012 May;22(5):860-9. doi: 10.1101/gr.131201.111. Epub 2012 Feb 2. Genome Res. 2012. PMID: 22300769 Free PMC article.

7

Allele-specific distribution of RNA polymerase II on female X chromosomes.

Kucera KS, Reddy TE, Pauli F, Gertz J, Logan JE, Myers RM, Willard HF. Kucera KS, et al. Hum Mol Genet. 2011 Oct 15;20(20):3964-73. doi: 10.1093/hmg/ddr315. Epub 2011 Jul 26. Hum Mol Genet. 2011. PMID: 21791549 Free PMC article.

8

Heritable individual-specific and allele-specific chromatin signatures in humans.

McDaniell R, Lee BK, Song L, Liu Z, Boyle AP, Erdos MR, Scott LJ, Morken MA, Kucera KS, Battenhouse A, Keefe D, Collins FS, Willard HF, Lieb JD, Furey TS, Crawford GE, Iyer VR, Birney E. McDaniell R, et al. Among authors: kucera ks. Science. 2010 Apr 9;328(5975):235-9. doi: 10.1126/science.1184655. Epub 2010 Mar 18. Science. 2010. PMID: 20299549 Free PMC article.

9

Analysis of DNA methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation.

Gertz J, Varley KE, Reddy TE, Bowling KM, Pauli F, Parker SL, Kucera KS, Willard HF, Myers RM. Gertz J, et al. Among authors: kucera ks. PLoS Genet. 2011 Aug;7(8):e1002228. doi: 10.1371/journal.pgen.1002228. Epub 2011 Aug 11. PLoS Genet. 2011. PMID: 21852959 Free PMC article.

10

Protein phosphatase 5 is required for ATR-mediated checkpoint activation.

Zhang J, Bao S, Furumai R, Kucera KS, Ali A, Dean NM, Wang XF. Zhang J, et al. Among authors: kucera ks. Mol Cell Biol. 2005 Nov;25(22):9910-9. doi: 10.1128/MCB.25.22.9910-9919.2005. Mol Cell Biol. 2005. PMID: 16260606 Free PMC article.

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