Hoover-Fong JE - Search Results

1

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.

Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, Goldstein DB. Sobreira NL, et al. PLoS Genet. 2010 Jun 17;6(6):e1000991. doi: 10.1371/journal.pgen.1000991. PLoS Genet. 2010. PMID: 20577567 Free PMC article.

2

Gabapentin interference with urine histidine as measured by the Beckman amino acid analyser.

Hoover-Fong JE, Geraghty MT, Raymond GV, Thomas GH. Hoover-Fong JE, et al. J Inherit Metab Dis. 2001 Jun;24(3):415-6. doi: 10.1023/a:1010581324565. J Inherit Metab Dis. 2001. PMID: 11486911 No abstract available.

3

Facial dysgenesis: a novel facial syndrome with chromosome 7 deletion p15.1-21.1.

Hoover-Fong JE, Cai J, Cargile CB, Thomas GH, Patel A, Griffin CA, Jabs EW, Hamosh A. Hoover-Fong JE, et al. Am J Med Genet A. 2003 Feb 15;117A(1):47-56. doi: 10.1002/ajmg.a.10046. Am J Med Genet A. 2003. PMID: 12548740

4

Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development.

Mardo V, Squibb EE, Braverman N, Hoover-Fong JE, Migeon C, Batista DA, Thomas GH. Mardo V, et al. Am J Med Genet A. 2008 Sep 1;146A(17):2293-7. doi: 10.1002/ajmg.a.32316. Am J Med Genet A. 2008. PMID: 18661548 No abstract available.

5

Congenital T cell deficiency in a patient with CHARGE syndrome.

Hoover-Fong J, Savage WJ, Lisi E, Winkelstein J, Thomas GH, Hoefsloot LH, Loeb DM. Hoover-Fong J, et al. J Pediatr. 2009 Jan;154(1):140-2. doi: 10.1016/j.jpeds.2008.07.049. J Pediatr. 2009. PMID: 19187738 Free PMC article.

6

Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function.

Miller ND, Nance MA, Wohler ES, Hoover-Fong JE, Lisi E, Thomas GH, Pevsner J. Miller ND, et al. Am J Med Genet A. 2009 Feb 15;149A(4):669-80. doi: 10.1002/ajmg.a.32705. Am J Med Genet A. 2009. PMID: 19253379 Free PMC article.

7

Genomic analysis of partial 21q monosomies with variable phenotypes.

Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J. Roberson ED, et al. Eur J Hum Genet. 2011 Feb;19(2):235-8. doi: 10.1038/ejhg.2010.150. Epub 2010 Sep 8. Eur J Hum Genet. 2011. PMID: 20823914 Free PMC article.

8

The characterization of twenty sequenced human genomes.

Pelak K, Shianna KV, Ge D, Maia JM, Zhu M, Smith JP, Cirulli ET, Fellay J, Dickson SP, Gumbs CE, Heinzen EL, Need AC, Ruzzo EK, Singh A, Campbell CR, Hong LK, Lornsen KA, McKenzie AM, Sobreira NL, Hoover-Fong JE, Milner JD, Ottman R, Haynes BF, Goedert JJ, Goldstein DB. Pelak K, et al. PLoS Genet. 2010 Sep 9;6(9):e1001111. doi: 10.1371/journal.pgen.1001111. PLoS Genet. 2010. PMID: 20838461 Free PMC article.

9

Mosaic trisomy 13: understanding origin using SNP array.

Jinawath N, Zambrano R, Wohler E, Palmquist MK, Hoover-Fong J, Hamosh A, Batista DA. Jinawath N, et al. J Med Genet. 2011 May;48(5):323-6. doi: 10.1136/jmg.2010.083931. Epub 2010 Nov 19. J Med Genet. 2011. PMID: 21097773

10

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.

Sobreira NL, Gnanakkan V, Walsh M, Marosy B, Wohler E, Thomas G, Hoover-Fong JE, Hamosh A, Wheelan SJ, Valle D. Sobreira NL, et al. Genome Res. 2011 Oct;21(10):1720-7. doi: 10.1101/gr.122986.111. Epub 2011 Sep 2. Genome Res. 2011. PMID: 21890680 Free PMC article.

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