Biesecker LG - Search Results

1

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

Hunter JE, Irving SA, Biesecker LG, Buchanan A, Jensen B, Lee K, Martin CL, Milko L, Muessig K, Niehaus AD, O'Daniel J, Piper MA, Ramos EM, Schully SD, Scott AF, Slavotinek A, Sobreira N, Strande N, Weaver M, Webber EM, Williams MS, Berg JS, Evans JP, Goddard KA. Hunter JE, et al. Among authors: biesecker lg. Genet Med. 2016 Dec;18(12):1258-1268. doi: 10.1038/gim.2016.40. Epub 2016 Apr 28. Genet Med. 2016. PMID: 27124788 Free PMC article.

2

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres.

Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, Kingston H, Campbell RH, Flint J, Donnai D, Biesecker L. Slavotinek A, et al. J Med Genet. 1999 May;36(5):405-11. J Med Genet. 1999. PMID: 10353788 Free PMC article.

3

Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.

Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM Jr, Viljoen DL, Cohen MM Jr. Biesecker LG, et al. Am J Med Genet. 1999 Jun 11;84(5):389-95. doi: 10.1002/(sici)1096-8628(19990611)84:5<389::aid-ajmg1>3.0.co;2-o. Am J Med Genet. 1999. PMID: 10360391 Review.

4

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.

Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxevanis AD, Barr M, Biesecker LG. Stone DL, et al. Among authors: biesecker lg. Nat Genet. 2000 May;25(1):79-82. doi: 10.1038/75637. Nat Genet. 2000. PMID: 10802661

5

Mutations in MKKS cause Bardet-Biedl syndrome.

Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG. Slavotinek AM, et al. Among authors: biesecker lg. Nat Genet. 2000 Sep;26(1):15-6. doi: 10.1038/79116. Nat Genet. 2000. PMID: 10973238

6

Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review.

Slavotinek AM, Biesecker LG. Slavotinek AM, et al. Among authors: biesecker lg. Am J Med Genet. 2000 Nov 27;95(3):208-15. Am J Med Genet. 2000. PMID: 11102925 Review.

7

Sudden death caused by pulmonary thromboembolism in Proteus syndrome.

Slavotinek AM, Vacha SJ, Peters KF, Biesecker LG. Slavotinek AM, et al. Among authors: biesecker lg. Clin Genet. 2000 Nov;58(5):386-9. doi: 10.1034/j.1399-0004.2000.580509.x. Clin Genet. 2000. PMID: 11140839

8

Unfolding the role of chaperones and chaperonins in human disease.

Slavotinek AM, Biesecker LG. Slavotinek AM, et al. Among authors: biesecker lg. Trends Genet. 2001 Sep;17(9):528-35. doi: 10.1016/s0168-9525(01)02413-1. Trends Genet. 2001. PMID: 11525836 Review.

9

Polydactyly: how many disorders and how many genes?

Biesecker LG. Biesecker LG. Am J Med Genet. 2002 Oct 15;112(3):279-83. doi: 10.1002/ajmg.10779. Am J Med Genet. 2002. PMID: 12357471 Review.

10

Genetic modifiers in human development and malformation syndromes, including chaperone proteins.

Slavotinek A, Biesecker LG. Slavotinek A, et al. Among authors: biesecker lg. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R45-50. doi: 10.1093/hmg/ddg099. Hum Mol Genet. 2003. PMID: 12668596 Review.

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