Scherer SW - Search Results

1

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick JA, Blencowe BJ, Roifman CM, Scherer SW. Merico D, et al. Among authors: scherer sw. Nat Commun. 2015 Nov 2;6:8718. doi: 10.1038/ncomms9718. Nat Commun. 2015. PMID: 26522830 Free PMC article.

2

Osborne LR, Herbrick JA, Greavette T, Heng HH, Tsui LC, Scherer SW. Osborne LR, et al. Among authors: scherer sw. Genomics. 1997 Oct 15;45(2):402-6. doi: 10.1006/geno.1997.4923. Genomics. 1997. PMID: 9344666

3

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.

Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, Ng D, Herbrick JA, Duncan A, Scherer SW, Tsui LC, Loutradis-Anagnostou A, Jacobson SG, Cepko CL, Bhattacharya SS, McInnes RR. Freund CL, et al. Among authors: scherer sw. Cell. 1997 Nov 14;91(4):543-53. doi: 10.1016/s0092-8674(00)80440-7. Cell. 1997. PMID: 9390563 Free article.

4

P450RAI (CYP26A1) maps to human chromosome 10q23-q24 and mouse chromosome 19C2-3.

White JA, Beckett B, Scherer SW, Herbrick JA, Petkovich M. White JA, et al. Among authors: scherer sw. Genomics. 1998 Mar 1;48(2):270-2. doi: 10.1006/geno.1997.5157. Genomics. 1998. PMID: 9521883 No abstract available.

5

Structural characterization and mapping of the normal epithelial cell-specific 1 gene.

Luo L, Herbrick JA, Scherer SW, Beatty B, Squire J, Diamandis EP. Luo L, et al. Among authors: scherer sw. Biochem Biophys Res Commun. 1998 Jun 29;247(3):580-6. doi: 10.1006/bbrc.1998.8793. Biochem Biophys Res Commun. 1998. PMID: 9647736

6

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

7

Human GBF1 is a ubiquitously expressed gene of the sec7 domain family mapping to 10q24.

Mansour SJ, Herbrick JA, Scherer SW, Melançon P. Mansour SJ, et al. Among authors: scherer sw. Genomics. 1998 Dec 1;54(2):323-7. doi: 10.1006/geno.1998.5563. Genomics. 1998. PMID: 9828135

8

Mapping of the human Lunatic Fringe (LFNG) gene to 7p22 and Manic Fringe (MFNG) to 22q12.

Egan S, Herbrick JA, Tsui LC, Cohen B, Flock G, Beatty B, Scherer SW. Egan S, et al. Among authors: scherer sw. Genomics. 1998 Dec 15;54(3):576-7. doi: 10.1006/geno.1998.5559. Genomics. 1998. PMID: 9878264 No abstract available.

9

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.

10

Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual.

Vincent JB, Herbrick JA, Gurling HM, Bolton PF, Roberts W, Scherer SW. Vincent JB, et al. Among authors: scherer sw. Am J Hum Genet. 2000 Aug;67(2):510-4. doi: 10.1086/303005. Epub 2000 Jul 7. Am J Hum Genet. 2000. PMID: 10889047 Free PMC article.

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