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Items: 23

1.

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW.

CMAJ. 2018 Feb 5;190(5):E126-E136. doi: 10.1503/cmaj.171151.

2.

Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features.

Sharfe N, Karanxha A, Dadi H, Merico D, Chitayat D, Herbrick JA, Freeman S, Grinstein S, Roifman CM.

J Allergy Clin Immunol. 2018 Aug;142(2):618-629. doi: 10.1016/j.jaci.2017.10.033. Epub 2017 Nov 26.

PMID:
29180244
3.

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.

Nat Commun. 2015 Nov 2;6:8718. doi: 10.1038/ncomms9718.

4.

The effects of RelB deficiency on lymphocyte development and function.

Sharfe N, Merico D, Karanxha A, Macdonald C, Dadi H, Ngan B, Herbrick JA, Roifman CM.

J Autoimmun. 2015 Dec;65:90-100. doi: 10.1016/j.jaut.2015.09.001. Epub 2015 Sep 15.

PMID:
26385063
5.

A high-resolution copy-number variation resource for clinical and population genetics.

Uddin M, Thiruvahindrapuram B, Walker S, Wang Z, Hu P, Lamoureux S, Wei J, MacDonald JR, Pellecchia G, Lu C, Lionel AC, Gazzellone MJ, McLaughlin JR, Brown C, Andrulis IL, Knight JA, Herbrick JA, Wintle RF, Ray P, Stavropoulos DJ, Marshall CR, Scherer SW.

Genet Med. 2015 Sep;17(9):747-52. doi: 10.1038/gim.2014.178. Epub 2014 Dec 11.

6.

Fatal combined immunodeficiency associated with heterozygous mutation in STAT1.

Sharfe N, Nahum A, Newell A, Dadi H, Ngan B, Pereira SL, Herbrick JA, Roifman CM.

J Allergy Clin Immunol. 2014 Mar;133(3):807-17. doi: 10.1016/j.jaci.2013.09.032. Epub 2013 Nov 13.

PMID:
24239102
7.

Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome.

Garcia-Barceló M, So MT, Lau DK, Leon TY, Yuan ZW, Cai WS, Lui VC, Fu M, Herbrick JA, Gutter E, Proud V, Li L, Pierre-Louis J, Aleck K, van Heurn E, Belloni E, Scherer SW, Tam PK.

Clin Chem. 2006 Jan;52(1):46-52. Epub 2005 Oct 27.

8.

Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature.

Fernandez BA, Siegel-Bartelt J, Herbrick JA, Teshima I, Scherer SW.

Clin Genet. 2005 Oct;68(4):349-59. Review.

PMID:
16143022
9.

Human chromosome 7: DNA sequence and biology.

Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC.

Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10.

10.

Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.

Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW.

Genomics. 2002 Feb;79(2):186-96.

PMID:
11829489
11.

Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia.

Ma Z, Morris SW, Valentine V, Li M, Herbrick JA, Cui X, Bouman D, Li Y, Mehta PK, Nizetic D, Kaneko Y, Chan GC, Chan LC, Squire J, Scherer SW, Hitzler JK.

Nat Genet. 2001 Jul;28(3):220-1.

PMID:
11431691
12.

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.

Am J Hum Genet. 2000 Aug;67(2):510-4. Epub 2000 Jul 7.

13.

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.

Cytogenet Cell Genet. 1999;87(3-4):197-8. No abstract available.

PMID:
10702666
14.

Chromosomal localization of phospholipase A2 activating protein, an Ets2 target gene, to 9p21.

Beatty BG, Qi S, Pienkowska M, Herbrick JA, Scheidl T, Zhang ZM, Kola I, Scherer SW, Seth A.

Genomics. 1999 Dec 15;62(3):529-32.

PMID:
10644453
15.

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.

Genomics. 1998 Dec 15;54(3):576-7. No abstract available.

PMID:
9878264
16.

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

Mansour SJ, Herbrick JA, Scherer SW, Melançon P.

Genomics. 1998 Dec 1;54(2):323-7.

PMID:
9828135
17.

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.

Nat Genet. 1998 Oct;20(2):171-4.

PMID:
9771710
18.

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

Luo L, Herbrick JA, Scherer SW, Beatty B, Squire J, Diamandis EP.

Biochem Biophys Res Commun. 1998 Jun 29;247(3):580-6.

PMID:
9647736
19.

Molecular analysis of the PDS gene in Pendred syndrome.

Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, Lee J, Coffey R, Grueters A, Grossman4 A, Phelps PD, Luxon L, Kendall-Taylor P, Scherer SW, Trembath RC.

Hum Mol Genet. 1998 Jul;7(7):1105-12.

PMID:
9618167
20.

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

White JA, Beckett B, Scherer SW, Herbrick JA, Petkovich M.

Genomics. 1998 Mar 1;48(2):270-2. No abstract available.

PMID:
9521883
21.

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.

Cell. 1997 Nov 14;91(4):543-53.

22.

PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7.

Osborne LR, Herbrick JA, Greavette T, Heng HH, Tsui LC, Scherer SW.

Genomics. 1997 Oct 15;45(2):402-6.

PMID:
9344666
23.

Genetic polymorphism and recombination in the subtelomeric region of chromosome 14q.

Wintle RF, Nygaard TG, Herbrick JA, Kvaløy K, Cox DW.

Genomics. 1997 Mar 15;40(3):409-14.

PMID:
9073508

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