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Items: 13

1.

Warsaw breakage syndrome: Further clinical and genetic delineation.

Alkhunaizi E, Shaheen R, Bharti SK, Joseph-George AM, Chong K, Abdel-Salam GMH, Alowain M, Blaser SI, Papsin BC, Butt M, Hashem M, Martin N, Godoy R, Brosh RM Jr, Alkuraya FS, Chitayat D.

Am J Med Genet A. 2018 Sep 14. doi: 10.1002/ajmg.a.40482. [Epub ahead of print]

PMID:
30216658
2.

Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant.

Sabatini PJB, Ejaz R, Stavropoulos DJ, Mendoza-Londono R, Joseph-George AM.

Mol Cytogenet. 2018 Aug 28;11:50. doi: 10.1186/s13039-018-0394-0. eCollection 2018.

3.

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.

4.

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.

Uddin M, Pellecchia G, Thiruvahindrapuram B, D'Abate L, Merico D, Chan A, Zarrei M, Tammimies K, Walker S, Gazzellone MJ, Nalpathamkalam T, Yuen RK, Devriendt K, Mathonnet G, Lemyre E, Nizard S, Shago M, Joseph-George AM, Noor A, Carter MT, Yoon G, Kannu P, Tihy F, Thorland EC, Marshall CR, Buchanan JA, Speevak M, Stavropoulos DJ, Scherer SW.

Sci Rep. 2016 Jul 1;6:28663. doi: 10.1038/srep28663.

5.

Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome.

Rodan LH, Zak M, Stavropoulos J, Joseph-George AM, Minassian BA.

Neurol Genet. 2016 Jan 14;2(1):e43. doi: 10.1212/NXG.0000000000000043. eCollection 2016 Feb.

6.

PGD for a carrier of an intrachromosomal insertion using aCGH.

Jones CA, Kolomietz E, Maire G, Vlasschaert M, Joseph-George AM, Myles-Reid D, Chong K, Chitayat D, Arthur R.

Syst Biol Reprod Med. 2014 Dec;60(6):377-82. doi: 10.3109/19396368.2014.962710. Epub 2014 Sep 23. Review.

PMID:
25247722
7.

MuLV-related endogenous retroviral elements and Flt3 participate in aberrant end-joining events that promote B-cell leukemogenesis.

Johnson RM, Papp E, Grandal I, Kowalski PE, Nutter L, Wong RC, Joseph-George AM, Danska JS, Guidos CJ.

Genes Dev. 2014 Jun 1;28(11):1179-90. doi: 10.1101/gad.240820.114.

8.

Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions.

Joseph-George AM, He Y, Marshall CR, Wong RC, MacDonald JR, Fahey CA, Chitayat D, Chun K, Ryan G, Summers AM, Winsor EJ, Scherer SW.

J Med Genet. 2011 May;48(5):317-22. doi: 10.1136/jmg.2010.085662. Epub 2011 Mar 23.

PMID:
21429932
9.

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.

Carter MT, Nikkel SM, Fernandez BA, Marshall CR, Noor A, Lionel AC, Prasad A, Pinto D, Joseph-George AM, Noakes C, Fairbrother-Davies C, Roberts W, Vincent J, Weksberg R, Scherer SW.

Clin Genet. 2011 Nov;80(5):435-43. doi: 10.1111/j.1399-0004.2010.01578.x. Epub 2010 Nov 29.

PMID:
21114665
10.

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.

Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW.

J Med Genet. 2010 Mar;47(3):195-203. doi: 10.1136/jmg.2009.069369. Epub 2009 Sep 15.

PMID:
19755429
11.

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.

Nat Genet. 2006 Dec;38(12):1413-8. Epub 2006 Nov 22.

12.

Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization.

Osborne LR, Joseph-George AM, Scherer SW.

Methods Mol Med. 2006;126:113-28.

PMID:
16930009
13.

Complete functional rescue of the ABCA1-/- mouse by human BAC transgenesis.

Coutinho JM, Singaraja RR, Kang M, Arenillas DJ, Bertram LN, Bissada N, Staels B, Fruchart JC, Fievet C, Joseph-George AM, Wasserman WW, Hayden MR.

J Lipid Res. 2005 Jun;46(6):1113-23. Epub 2005 Mar 16.

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