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List of publications/posters describing works supported by the Biomolecular Core Laboratory sequencing and fragment analysis services since opening in 2001.

  • Gripp KW, Lin AE, Nicholson L, Allen W, Cramer A, Jones K, Kutz W, Peck D, Wheeler PG, Wilson W, Al-Rahawan MM, Stabley DL, Sol-Church K (2007) "Further Delineation of the Phenotype Resulting from BRAF or MEK1 Germline Mutations Helps Differentiate Cardio-facio-cutaneous Syndrome from Costello Syndrome" Am J Med Genet A. 2007 Jun 5;143A(13):1472-1480 [Epub ahead of print].

  • Al-Rahawan MM, Chute DJ, Sol-Church K, Gripp KW, Stabley DL, McDaniel NL, Wilson WG, Waldron PE (2007). "Hepatoblastoma And Heart Transplantation In A Patient With Cardio-Facio-Cutaneous Syndrome" Am J Med Genet A. 2007 Jun 13;143A(13):1481-1488 [Epub ahead of print].

  • Ioannidis JP, Ng MY, Sham PC, Zintzaras E, Lewis CM, Deng HW, Econs MJ, Karasik D, Devoto M, Kammerer CM, Spector T, Andrew T, Cupples LA, Duncan EL, Foroud T, Kiel DP, Koller D, Langdahl B, Mitchell BD, Peacock M, Recker R, Shen H, Sol-Church K, Spotila LD, Uitterlinden AG, Wilson SG, Kung AW, Ralston SH (2007). "Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass" [Epub ahead of print Aug. 7, 06] J Bone Miner Res. Feb;22(2):173-83.

  • Gripp KW, Stabley DL, Nicholson L, Hoffman JO, Sol-Church K, (2006) "Somatic Mosaicism for an HRAS mutation causes Costello Syndrome" [Epub ahead of print Sept. 12, 06] Am J Med Genet A. Oct 15;140(20):2163-9.

  • Barthold JS, Si X, Stabley DL, Campion L, Sol-Church K, McCahan SM, (2006) "Failure of shortening and inversion of the perinatal gubernaculums in the cryptorchid rat" J Urol. 2006 Oct;176(4):1612-1617.

  • Sol-Church K, Stabley DL, Nicholson L, Gonzalez IL, Gripp KW. (2006) "Paternal bias in parental origin of HRAS mutations in Costello syndrome" Hum Mutat. Aug 2;27(8):736-741.

  • Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI Jr, Doyle D, Aoki Y, Matsubara Y, Zackai EH, Lapunzina P, Gonzalez-Meneses A, Holbrook J, Agresta CA, Gonzalez IL, Sol-Church K (2006) "HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation." Am J Med Genet A. Jan 1;140(1):1-7. [Epub ahead of print 2005 Dec. 15].

  • Zhang H, Chen H, Barnoski B, Sol-Church K, Stabley DL and Martin-DeLeon P.A. (2006) "Murine Spam1 mRNA: involvement of AU-rich elements in the 3'UTR and antisense RNA in its tight post-transcriptional regulation in spermatids." Mol Reprod Dev. 73(2):247-55. [Epub ahead of print 2005, Oct 25].

  • Devoto M, Spotila LD, Stabley DL, Wharton GN, Rydbeck H, Korkko J, Kosich R, Prockop D, Tenenhouse A, and Sol-Church K (2005) "Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density" Eur J Hum Genet. 13(6):781-8.

  • Frenck Holbrook J, Stabley D, Sol-Church K (2005) "Exploring Whole Genome Amplification as a DNA Recovery Tool for Molecular Genetic Studies" J Biomol Techn. 16: 125-133.

  • Frenck J, Sperle K, Picerno GN, Stabley DL, Davis-Williams A, Hobson G, Sol-Church K (2003) "Development of Capillary Electrophoresis as a Quantitative Tool for Duplication Analysis" ABRF 2003 Denver, CO.

  • Mason RW, Stabley DL, Picerno GN, Frenck J, Xing S, Bertenshaw and Sol-Church K (2002) "Evolution of placental proteases" Biol Chem 383:1113-1118.

  • Sol-Church K, Picerno GN, Stabley DL, Frenck J, Xing S, Bertenshaw GP, and Mason RW (2002) "Evolution of placentally expressed cathepsins" Biochem Biophys Res Commun. 293:23-29.

  • Gonzalez IL (2002) "A gene with many mutations." Barth Syndrome Conference, Baltimore, MD Genetics of Barth Syndrome G4.5/TAZ.

  • Gonzalez IL, Sylvester JE (2001) "Human rDNA: evolutionary patterns within the genes and tandem arrays derived from multiple chromosomes." Genomics 73:255-263.

  • Hobson G, Stabley DL, Funanage VL, Marks H G (2001) "A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier-detection of PLP1 gene duplication in Pelizaeus-Merzbacher Disease" Hum Mutat. 2:152.
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