Stockton DW - Search Results

1

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW. Boerkoel CF, et al. Among authors: stockton dw. Nat Genet. 2002 Feb;30(2):215-20. doi: 10.1038/ng821. Epub 2002 Jan 22. Nat Genet. 2002. PMID: 11799392

2

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.

Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D, Mao Y, Quiocho FA, Roa BB, Nakagawa M, Stockton DW, Lupski JR. Takashima H, et al. Among authors: stockton dw. Nat Genet. 2002 Oct;32(2):267-72. doi: 10.1038/ng987. Epub 2002 Sep 16. Nat Genet. 2002. PMID: 12244316

3

Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.

Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N. Eichers ER, et al. Among authors: stockton dw. Am J Hum Genet. 2002 Apr;70(4):955-64. doi: 10.1086/339688. Epub 2002 Feb 26. Am J Hum Genet. 2002. PMID: 11868161 Free PMC article.

4

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.

Wiszniewski W, Lewis RA, Stockton DW, Peng J, Mardon G, Chen R, Lupski JR. Wiszniewski W, et al. Among authors: stockton dw. Hum Genet. 2011 Mar;129(3):319-27. doi: 10.1007/s00439-010-0928-y. Epub 2010 Dec 14. Hum Genet. 2011. PMID: 21153841 Free PMC article.

5

Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.

Katsanis N, Lewis RA, Stockton DW, Mai PM, Baird L, Beales PL, Leppert M, Lupski JR. Katsanis N, et al. Among authors: stockton dw. Am J Hum Genet. 1999 Dec;65(6):1672-9. doi: 10.1086/302684. Am J Hum Genet. 1999. PMID: 10577921 Free PMC article.

6

Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR. Bejjani BA, et al. Among authors: stockton dw. Hum Mol Genet. 2000 Feb 12;9(3):367-74. doi: 10.1093/hmg/9.3.367. Hum Mol Genet. 2000. PMID: 10655546

7

A novel locus for Leber congenital amaurosis on chromosome 14q24.

Stockton DW, Lewis RA, Abboud EB, Al-Rajhi A, Jabak M, Anderson KL, Lupski JR. Stockton DW, et al. Hum Genet. 1998 Sep;103(3):328-33. doi: 10.1007/s004390050825. Hum Genet. 1998. PMID: 9799089

8

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.

Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Zhuchenko O, et al. Among authors: stockton dw. Nat Genet. 1997 Jan;15(1):62-9. doi: 10.1038/ng0197-62. Nat Genet. 1997. PMID: 8988170

9

Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.

Stockton DW, Ross HL, Bacino CA, Altman CA, Shaffer LG, Lupski JR. Stockton DW, et al. Am J Med Genet. 1997 Aug 8;71(2):189-93. doi: 10.1002/(sici)1096-8628(19970808)71:2<189::aid-ajmg13>3.0.co;2-a. Am J Med Genet. 1997. PMID: 9217220

10

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.

Eichers ER, Abd-El-Barr MM, Paylor R, Lewis RA, Bi W, Lin X, Meehan TP, Stockton DW, Wu SM, Lindsay E, Justice MJ, Beales PL, Katsanis N, Lupski JR. Eichers ER, et al. Among authors: stockton dw. Hum Genet. 2006 Sep;120(2):211-26. doi: 10.1007/s00439-006-0197-y. Epub 2006 Jun 23. Hum Genet. 2006. PMID: 16794820

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