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227 results

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From karyotypes to precision genomics in 9p deletion and duplication syndromes.
Sams EI, Ng JK, Tate V, Claire Hou YC, Cao Y, Antonacci-Fulton L, Belhassan K, Neidich J, Mitra RD, Cole FS, Dickson P, Milbrandt J, Turner TN. Sams EI, et al. Among authors: cole fs. HGG Adv. 2021 Dec 24;3(1):100081. doi: 10.1016/j.xhgg.2021.100081. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047865 Free PMC article.
Quantification of rare allelic variants from pooled genomic DNA.
Druley TE, Vallania FL, Wegner DJ, Varley KE, Knowles OL, Bonds JA, Robison SW, Doniger SW, Hamvas A, Cole FS, Fay JC, Mitra RD. Druley TE, et al. Among authors: cole fs. Nat Methods. 2009 Apr;6(4):263-5. doi: 10.1038/nmeth.1307. Epub 2009 Mar 1. Nat Methods. 2009. PMID: 19252504 Free PMC article.
Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.
Wambach JA, Wegner DJ, Depass K, Heins H, Druley TE, Mitra RD, An P, Zhang Q, Nogee LM, Cole FS, Hamvas A. Wambach JA, et al. Among authors: cole fs. Pediatrics. 2012 Dec;130(6):e1575-82. doi: 10.1542/peds.2012-0918. Epub 2012 Nov 19. Pediatrics. 2012. PMID: 23166334 Free PMC article.
Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
Baldridge D, Spillmann RC, Wegner DJ, Wambach JA, White FV, Sisco K, Toler TL, Dickson PI, Cole FS, Shashi V, Grange DK. Baldridge D, et al. Among authors: cole fs. Am J Med Genet A. 2020 May;182(5):1053-1065. doi: 10.1002/ajmg.a.61518. Epub 2020 Feb 21. Am J Med Genet A. 2020. PMID: 32083401 Free PMC article.
Precise breakpoint detection in a patient with 9p- syndrome.
Ng J, Sams E, Baldridge D, Kremitzki M, Wegner DJ, Lindsay T, Fulton R, Cole FS, Turner TN. Ng J, et al. Among authors: cole fs. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005348. doi: 10.1101/mcs.a005348. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32532883 Free PMC article.
Mutational profiling in the human genome.
Wilson RK, Ley TJ, Cole FS, Milbrandt JD, Clifton S, Fulton L, Fewell G, Minx P, Sun H, McLellan M, Pohl C, Mardis ER. Wilson RK, et al. Among authors: cole fs. Cold Spring Harb Symp Quant Biol. 2003;68:23-9. doi: 10.1101/sqb.2003.68.23. Cold Spring Harb Symp Quant Biol. 2003. PMID: 15338599 Review. No abstract available.
The Genomics of Neonatal Abstinence Syndrome.
Cole FS, Wegner DJ, Davis JM. Cole FS, et al. Front Pediatr. 2017 Aug 22;5:176. doi: 10.3389/fped.2017.00176. eCollection 2017. Front Pediatr. 2017. PMID: 28879171 Free PMC article. Review.
A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1.
Reynolds M, Linneman LA, Luna S, Warner BB, Turmelle YP, Kulkarni SS, Jiang X, Khanna G, Shinawi M, Porter FD, Ory DS, Cole FS, Dickson PI. Reynolds M, et al. Among authors: cole fs. Mol Genet Metab Rep. 2021 May 26;28:100772. doi: 10.1016/j.ymgmr.2021.100772. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34113546 Free PMC article.
227 results