Strom SP - Search Results

1

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

Strom SP, Lozano R, Lee H, Dorrani N, Mann J, O'Lague PF, Mans N, Deignan JL, Vilain E, Nelson SF, Grody WW, Quintero-Rivera F. Strom SP, et al. BMC Med Genet. 2014 May 1;15:49. doi: 10.1186/1471-2350-15-49. BMC Med Genet. 2014. PMID: 24886118 Free PMC article.

2

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.

Strom SP, Lee H, Das K, Vilain E, Nelson SF, Grody WW, Deignan JL. Strom SP, et al. Genet Med. 2014 Jul;16(7):510-5. doi: 10.1038/gim.2013.183. Epub 2014 Jan 9. Genet Med. 2014. PMID: 24406459 Free PMC article.

3

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.

4

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. Lee H, et al. Among authors: strom sp. JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604. JAMA. 2014. PMID: 25326637 Free PMC article.

5

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.

6

Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.

Fogel BL, Lee H, Strom SP, Deignan JL, Nelson SF. Fogel BL, et al. Among authors: strom sp. Ann N Y Acad Sci. 2016 Feb;1366(1):49-60. doi: 10.1111/nyas.12850. Epub 2015 Aug 6. Ann N Y Acad Sci. 2016. PMID: 26250888 Free PMC article. Review.

7

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. Schoch K, et al. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132692 Free PMC article.

8

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.

9

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.

10

An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.

Kansal R, Li X, Shen J, Samuel D, Laningham F, Lee H, Panigrahi GB, Shuen A, Kantarci S, Dorrani N, Reiss J, Shintaku P, Deignan JL, Strom SP, Pearson CE, Vilain E, Grody WW. Kansal R, et al. Among authors: strom sp. Genes Chromosomes Cancer. 2016 Feb;55(2):131-42. doi: 10.1002/gcc.22319. Epub 2015 Nov 6. Genes Chromosomes Cancer. 2016. PMID: 26542077

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