Strom SP - Search Results

1

Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign.

Strom SP, Gorin MB. Strom SP, et al. Mol Vis. 2013 May 6;19:980-5. Print 2013. Mol Vis. 2013. PMID: 23687434 Free PMC article.

2

Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.

Strom SP, Gao YQ, Martinez A, Ortube C, Chen Z, Nelson SF, Nusinowitz S, Farber DB, Gorin MB. Strom SP, et al. BMC Med Genet. 2012 Aug 3;13:67. doi: 10.1186/1471-2350-13-67. BMC Med Genet. 2012. PMID: 22863181 Free PMC article.

3

Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.

Ortube MC, Strom SP, Nelson SF, Nusinowitz S, Martinez A, Gorin MB. Ortube MC, et al. Among authors: strom sp. BMC Med Genet. 2014 Jan 20;15:11. doi: 10.1186/1471-2350-15-11. BMC Med Genet. 2014. PMID: 24444108 Free PMC article.

4

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

Strom SP, Clark MJ, Martinez A, Garcia S, Abelazeem AA, Matynia A, Parikh S, Sullivan LS, Bowne SJ, Daiger SP, Gorin MB. Strom SP, et al. PLoS One. 2016 Mar 10;11(3):e0150944. doi: 10.1371/journal.pone.0150944. eCollection 2016. PLoS One. 2016. PMID: 26964041 Free PMC article. Clinical Trial.

5

Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients.

Matynia A, Wang J, Kim S, Li Y, Dimashkie A, Jiang Z, Hu J, Strom SP, Radu RA, Chen R, Gorin MB. Matynia A, et al. Among authors: strom sp. Transl Vis Sci Technol. 2022 Mar 2;11(3):33. doi: 10.1167/tvst.11.3.33. Transl Vis Sci Technol. 2022. PMID: 35348597 Free PMC article.

6

Analysis of the ABCA4 genomic locus in Stargardt disease.

Zernant J, Xie YA, Ayuso C, Riveiro-Alvarez R, Lopez-Martinez MA, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, Yuan B, Ayyagari R, Nagy PL, Tsang SH, Gouras P, Collison FT, Lupski JR, Fishman GA, Allikmets R. Zernant J, et al. Among authors: strom sp. Hum Mol Genet. 2014 Dec 20;23(25):6797-806. doi: 10.1093/hmg/ddu396. Epub 2014 Jul 31. Hum Mol Genet. 2014. PMID: 25082829 Free PMC article.

7

High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene.

Strom SP, Stone JL, Ten Bosch JR, Merriman B, Cantor RM, Geschwind DH, Nelson SF. Strom SP, et al. Mol Psychiatry. 2010 Oct;15(10):996-1005. doi: 10.1038/mp.2009.41. Epub 2009 May 19. Mol Psychiatry. 2010. PMID: 19455149 Free PMC article.

8

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F, Miceli MC, Quintero-Rivera F, Kantarci S, Strom SP, Deignan JL; UCLA Clinical Genomics Center; Grody WW, Vilain E, Nelson SF. Arboleda VA, et al. Among authors: strom sp. Am J Hum Genet. 2015 Mar 5;96(3):498-506. doi: 10.1016/j.ajhg.2015.01.017. Epub 2015 Feb 26. Am J Hum Genet. 2015. PMID: 25728775 Free PMC article.

9

Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation.

Truscott L, Gell J, Chang VY, Lee H, Strom SP, Pillai R, Sisk A, Martinez-Agosto JA, Anderson M, Federman N. Truscott L, et al. Among authors: strom sp. Pediatr Blood Cancer. 2017 Jan;64(1):100-102. doi: 10.1002/pbc.26197. Epub 2016 Aug 31. Pediatr Blood Cancer. 2017. PMID: 27577987 Free PMC article.

10

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X, Quintero-Rivera F, Vilain E, Grody WW, Perlman S, Geschwind DH, Nelson SF. Fogel BL, et al. Among authors: strom sp. JAMA Neurol. 2014 Oct;71(10):1237-46. doi: 10.1001/jamaneurol.2014.1944. JAMA Neurol. 2014. PMID: 25133958 Free PMC article.

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