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Items: 23

1.

Fundamentals of RNA Analysis on Biobanked Specimens.

Strom SP.

Methods Mol Biol. 2019;1897:345-357. doi: 10.1007/978-1-4939-8935-5_29. Review.

PMID:
30539457
2.

Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care.

Legare JM, Modaff P, Strom SP, Pauli RM, Bartlett HL.

Am J Med Genet A. 2018 Nov;176(11):2237-2242. doi: 10.1002/ajmg.a.40377. Epub 2018 Sep 8.

PMID:
30195254
3.

Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.

Mullegama SV, Jensik P, Li C, Dorrani N; UCLA Clinical Genomics Center, Kantarci S, Blumberg B, Grody WW, Strom SP.

Clin Case Rep. 2017 Apr 18;5(6):833-840. doi: 10.1002/ccr3.904. eCollection 2017 Jun.

4.

De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.

Mullegama SV, Klein SD, Mulatinho MV, Senaratne TN, Singh K; UCLA Clinical Genomics Center, Nguyen DC, Gallant NM, Strom SP, Ghahremani S, Rao NP, Martinez-Agosto JA.

Am J Med Genet A. 2017 May;173(5):1319-1327. doi: 10.1002/ajmg.a.38207. Epub 2017 Mar 11.

PMID:
28296084
5.

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.

Pediatr Blood Cancer. 2017 Jan;64(1):100-102. doi: 10.1002/pbc.26197. Epub 2016 Aug 31.

6.

Current practices and guidelines for clinical next-generation sequencing oncology testing.

Strom SP.

Cancer Biol Med. 2016 Mar;13(1):3-11. doi: 10.28092/j.issn.2095-3941.2016.0004.

7.

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.

PLoS One. 2016 Mar 10;11(3):e0150944. doi: 10.1371/journal.pone.0150944. eCollection 2016.

8.

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.

Genes Chromosomes Cancer. 2016 Feb;55(2):131-42. doi: 10.1002/gcc.22319. Epub 2015 Nov 6.

PMID:
26542077
9.

Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.

Fogel BL, Lee H, Strom SP, Deignan JL, Nelson SF.

Ann N Y Acad Sci. 2016 Feb;1366(1):49-60. doi: 10.1111/nyas.12850. Epub 2015 Aug 6. Review.

10.

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.

Am J Hum Genet. 2015 Mar 5;96(3):498-506. doi: 10.1016/j.ajhg.2015.01.017. Epub 2015 Feb 26.

11.

TOX3 is expressed in mammary ER(+) epithelial cells and regulates ER target genes in luminal breast cancer.

Seksenyan A, Kadavallore A, Walts AE, de la Torre B, Berel D, Strom SP, Aliahmad P, Funari VA, Kaye J.

BMC Cancer. 2015 Jan 30;15:22. doi: 10.1186/s12885-015-1018-2.

12.

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.

JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604.

13.

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.

JAMA Neurol. 2014 Oct;71(10):1237-46. doi: 10.1001/jamaneurol.2014.1944. Erratum in: JAMA Neurol. 2015 Jan;72(1):128.

14.

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.

Hum Mol Genet. 2014 Dec 20;23(25):6797-806. doi: 10.1093/hmg/ddu396. Epub 2014 Jul 31.

15.

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.

BMC Med Genet. 2014 May 1;15:49. doi: 10.1186/1471-2350-15-49.

16.

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.

BMC Med Genet. 2014 Jan 20;15:11. doi: 10.1186/1471-2350-15-11.

17.

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.

Genet Med. 2014 Jul;16(7):510-5. doi: 10.1038/gim.2013.183. Epub 2014 Jan 9.

18.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA.

Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8.

20.

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.

BMC Med Genet. 2012 Aug 3;13:67.

21.

Interactions between commensal fungi and the C-type lectin receptor Dectin-1 influence colitis.

Iliev ID, Funari VA, Taylor KD, Nguyen Q, Reyes CN, Strom SP, Brown J, Becker CA, Fleshner PR, Dubinsky M, Rotter JI, Wang HL, McGovern DP, Brown GD, Underhill DM.

Science. 2012 Jun 8;336(6086):1314-7. doi: 10.1126/science.1221789. Epub 2012 Jun 6.

22.

Disease gene characterization through large-scale co-expression analysis.

Day A, Dong J, Funari VA, Harry B, Strom SP, Cohn DH, Nelson SF.

PLoS One. 2009 Dec 31;4(12):e8491. doi: 10.1371/journal.pone.0008491.

23.

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.

Mol Psychiatry. 2010 Oct;15(10):996-1005. doi: 10.1038/mp.2009.41. Epub 2009 May 19.

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