Somers GR - Search Results

1

Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.

Gray MJ, Kannu P, Sharma S, Neyt C, Zhang D, Paria N, Daniel PB, Whetstone H, Sprenger HG, Hammerschmidt P, Weng A, Dupuis L, Jobling R, Mendoza-Londono R, Dray M, Su P, Wilson MJ, Kapur RP, McCarthy EF, Alman BA, Howard A, Somers GR, Marshall CR, Manners S, Flanagan AM, Rathjen KE, Karol LA, Crawford H, Markie DM, Rios JJ, Wise CA, Robertson SP. Gray MJ, et al. Among authors: somers gr. Am J Hum Genet. 2015 Dec 3;97(6):837-47. doi: 10.1016/j.ajhg.2015.11.001. Am J Hum Genet. 2015. PMID: 26637977 Free PMC article.

2

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).

Skidmore DL, Chitayat D, Morgan T, Hinek A, Fischer B, Dimopoulou A, Somers G, Halliday W, Blaser S, Diambomba Y, Lemire EG, Kornak U, Robertson SP. Skidmore DL, et al. Am J Med Genet A. 2011 Aug;155A(8):1848-56. doi: 10.1002/ajmg.a.34057. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739576

3

Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors.

Anderson ND, de Borja R, Young MD, Fuligni F, Rosic A, Roberts ND, Hajjar S, Layeghifard M, Novokmet A, Kowalski PE, Anaka M, Davidson S, Zarrei M, Id Said B, Schreiner LC, Marchand R, Sitter J, Gokgoz N, Brunga L, Graham GT, Fullam A, Pillay N, Toretsky JA, Yoshida A, Shibata T, Metzler M, Somers GR, Scherer SW, Flanagan AM, Campbell PJ, Schiffman JD, Shago M, Alexandrov LB, Wunder JS, Andrulis IL, Malkin D, Behjati S, Shlien A. Anderson ND, et al. Among authors: somers gr. Science. 2018 Aug 31;361(6405):eaam8419. doi: 10.1126/science.aam8419. Science. 2018. PMID: 30166462 Free PMC article.

4

The CIC-DUX4 fusion transcript is present in a subgroup of pediatric primitive round cell sarcomas.

Graham C, Chilton-MacNeill S, Zielenska M, Somers GR. Graham C, et al. Among authors: somers gr. Hum Pathol. 2012 Feb;43(2):180-9. doi: 10.1016/j.humpath.2011.04.023. Epub 2011 Aug 2. Hum Pathol. 2012. PMID: 21813156

5

Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ₁₀ deficiency.

Sondheimer N, Hewson S, Cameron JM, Somers GR, Broadbent JD, Ziosi M, Quinzii CM, Naini AB. Sondheimer N, et al. Among authors: somers gr. Mol Genet Metab Rep. 2017 May 11;12:23-27. doi: 10.1016/j.ymgmr.2017.05.001. eCollection 2017 Sep. Mol Genet Metab Rep. 2017. PMID: 28540186 Free PMC article.

6

The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP.

Smedley D, Hamoudi R, Clark J, Warren W, Abdul-Rauf M, Somers G, Venter D, Fagan K, Cooper C, Shipley J. Smedley D, et al. Hum Mol Genet. 1998 Apr;7(4):637-42. doi: 10.1093/hmg/7.4.637. Hum Mol Genet. 1998. PMID: 9499416

7

De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation.

Tesoriero A, Andersen C, Southey M, Somers G, McKay M, Armes J, McCredie M, Giles G, Hopper JL, Venter D. Tesoriero A, et al. Am J Hum Genet. 1999 Aug;65(2):567-9. doi: 10.1086/302503. Am J Hum Genet. 1999. PMID: 10417300 Free PMC article. No abstract available.

8

Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study.

Distante S, Nasioulas S, Somers GR, Cameron DJ, Young MA, Forrest SM, Gardner RJ. Distante S, et al. Among authors: somers gr. J Med Genet. 1996 Feb;33(2):157-60. doi: 10.1136/jmg.33.2.157. J Med Genet. 1996. PMID: 8929955 Free PMC article.

9

Characterization of trisomy 8 in pediatric undifferentiated sarcomas using advanced molecular cytogenetic techniques.

Selvarajah S, Yoshimoto M, Prasad M, Shago M, Squire JA, Zielenska M, Somers GR. Selvarajah S, et al. Among authors: somers gr. Cancer Genet Cytogenet. 2007 Apr 1;174(1):35-41. doi: 10.1016/j.cancergencyto.2006.11.011. Cancer Genet Cytogenet. 2007. PMID: 17350464

10

JNK1 determines the oncogenic or tumor-suppressive activity of the integrin-linked kinase in human rhabdomyosarcoma.

Durbin AD, Somers GR, Forrester M, Pienkowska M, Hannigan GE, Malkin D. Durbin AD, et al. Among authors: somers gr. J Clin Invest. 2009 Jun;119(6):1558-70. doi: 10.1172/JCI37958. Epub 2009 May 26. J Clin Invest. 2009. PMID: 19478459 Free PMC article.

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