Scherer SW - Search Results

1

Genome assembly comparison identifies structural variants in the human genome.

Khaja R, Zhang J, MacDonald JR, He Y, Joseph-George AM, Wei J, Rafiq MA, Qian C, Shago M, Pantano L, Aburatani H, Jones K, Redon R, Hurles M, Armengol L, Estivill X, Mural RJ, Lee C, Scherer SW, Feuk L. Khaja R, et al. Among authors: scherer sw. Nat Genet. 2006 Dec;38(12):1413-8. doi: 10.1038/ng1921. Epub 2006 Nov 22. Nat Genet. 2006. PMID: 17115057 Free PMC article.

2

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.

Scherer SW, Poorkaj P, Massa H, Soder S, Allen T, Nunes M, Geshuri D, Wong E, Belloni E, Little S, et al. Scherer SW, et al. Hum Mol Genet. 1994 Aug;3(8):1345-54. doi: 10.1093/hmg/3.8.1345. Hum Mol Genet. 1994. PMID: 7987313

3

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A, Mitchell HF, Donis-Keller H, Helms C, Hing AV, Heng HH, Koop B, Martindale D, Rommens JM, Tsui LC, Scherer SW. Belloni E, et al. Among authors: scherer sw. Nat Genet. 1996 Nov;14(3):353-6. doi: 10.1038/ng1196-353. Nat Genet. 1996. PMID: 8896571

4

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.

Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M. Roessler E, et al. Among authors: scherer sw. Nat Genet. 1996 Nov;14(3):357-60. doi: 10.1038/ng1196-357. Nat Genet. 1996. PMID: 8896572

5

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.

Minassian BA, Lee JR, Herbrick JA, Huizenga J, Soder S, Mungall AJ, Dunham I, Gardner R, Fong CY, Carpenter S, Jardim L, Satishchandra P, Andermann E, Snead OC 3rd, Lopes-Cendes I, Tsui LC, Delgado-Escueta AV, Rouleau GA, Scherer SW. Minassian BA, et al. Among authors: scherer sw. Nat Genet. 1998 Oct;20(2):171-4. doi: 10.1038/2470. Nat Genet. 1998. PMID: 9771710

6

Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24.

Crackower MA, Sinasac DS, Lee JR, Herbrick JA, Tsui LC, Scherer SW. Crackower MA, et al. Among authors: scherer sw. Cytogenet Cell Genet. 1999;87(3-4):197-8. doi: 10.1159/000015465. Cytogenet Cell Genet. 1999. PMID: 10702666 No abstract available.

7

Discovery of the human genome sequence in the public and private databases.

Scherer SW, Cheung J. Scherer SW, et al. Curr Biol. 2001 Oct 16;11(20):R808-11. doi: 10.1016/s0960-9822(01)00490-0. Curr Biol. 2001. PMID: 11676931 Free article.

8

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, Scherer SW. Osborne LR, et al. Among authors: scherer sw. Nat Genet. 2001 Nov;29(3):321-5. doi: 10.1038/ng753. Nat Genet. 2001. PMID: 11685205 Free PMC article.

9

Genetic analysis of patients with the Saethre-Chotzen phenotype.

Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, Nakabayashi K, Scherer SW, Ray PN, Teshima I. Chun K, et al. Among authors: scherer sw. Am J Med Genet. 2002 Jun 15;110(2):136-43. doi: 10.1002/ajmg.10400. Am J Med Genet. 2002. PMID: 12116251

10

Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome.

Estivill X, Cheung J, Pujana MA, Nakabayashi K, Scherer SW, Tsui LC. Estivill X, et al. Among authors: scherer sw. Hum Mol Genet. 2002 Aug 15;11(17):1987-95. doi: 10.1093/hmg/11.17.1987. Hum Mol Genet. 2002. PMID: 12165560

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