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Items: 1 to 50 of 106

1.

Electric Field-Induced Release and Measurement Liquid Biopsy for Noninvasive Early Lung Cancer Assessment.

Wei F, Strom CM, Cheng J, Lin CC, Hsu CY, Soo Hoo GW, Chia D, Kim Y, Li F, Elashoff D, Grognan T, Tu M, Liao W, Xian R, Grody WW, Su WC, Wong DTW.

J Mol Diagn. 2018 Nov;20(6):738-742. doi: 10.1016/j.jmoldx.2018.06.008. Epub 2018 Oct 8.

PMID:
30309763
2.

Maternal chromosome Xp deletion identified by prenatal cell-free DNA screening.

Ilagan BJ, Maxwell MD, Fisher BM, Milanovich J, Owen R, Anderson B, Zhang K, Strom CM.

Prenat Diagn. 2017 Sep;37(9):935-937. doi: 10.1002/pd.5103. Epub 2017 Jul 25. No abstract available.

PMID:
28654736
3.

A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.

Li Y, Arellano AR, Bare LA, Bender RA, Strom CM, Devlin JJ.

Value Health. 2017 Apr;20(4):547-555. doi: 10.1016/j.jval.2017.01.006. Epub 2017 Feb 23.

4.

Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS).

Strom CM, Anderson B, Tsao D, Zhang K, Liu Y, Livingston K, Elzinga C, Evans M, Nguyen Q, Wolfson D, Rowland C, Kolacki P, Maxwell M, Wang JC, Rabin D, Catanese J, Owen R, Braastad C, Sun W.

PLoS One. 2017 Mar 1;12(3):e0167130. doi: 10.1371/journal.pone.0167130. eCollection 2017.

5.

Improving the Accuracy of Prenatal Screening with DNA Copy-Number Analysis.

Strom CM, Maxwell MD, Owen R.

N Engl J Med. 2017 Jan 12;376(2):188-189. doi: 10.1056/NEJMc1604205. No abstract available.

PMID:
28076705
6.

BRCA Share: A Collection of Clinical BRCA Gene Variants.

Béroud C, Letovsky SI, Braastad CD, Caputo SM, Beaudoux O, Bignon YJ, Bressac-De Paillerets B, Bronner M, Buell CM, Collod-Béroud G, Coulet F, Derive N, Divincenzo C, Elzinga CD, Garrec C, Houdayer C, Karbassi I, Lizard S, Love A, Muller D, Nagan N, Nery CR, Rai G, Revillion F, Salgado D, Sévenet N, Sinilnikova O, Sobol H, Stoppa-Lyonnet D, Toulas C, Trautman E, Vaur D, Vilquin P, Weymouth KS, Willis A; Laboratory Corporation of America Variant Classification Group; Quest Diagnostics Variant Classification Group; UNICANCER Genetic Group BRCA Laboratory Network, Eisenberg M, Strom CM.

Hum Mutat. 2016 Dec;37(12):1318-1328. doi: 10.1002/humu.23113. Epub 2016 Sep 28.

7.

Frequency and Complexity of De Novo Structural Mutation in Autism.

Brandler WM, Antaki D, Gujral M, Noor A, Rosanio G, Chapman TR, Barrera DJ, Lin GN, Malhotra D, Watts AC, Wong LC, Estabillo JA, Gadomski TE, Hong O, Fajardo KV, Bhandari A, Owen R, Baughn M, Yuan J, Solomon T, Moyzis AG, Maile MS, Sanders SJ, Reiner GE, Vaux KK, Strom CM, Zhang K, Muotri AR, Akshoomoff N, Leal SM, Pierce K, Courchesne E, Iakoucheva LM, Corsello C, Sebat J.

Am J Hum Genet. 2016 Apr 7;98(4):667-79. doi: 10.1016/j.ajhg.2016.02.018. Epub 2016 Mar 24.

8.

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, Strom CM, Keiles SB, Higgins JJ.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

9.

Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.

Strom CM, Rivera S, Elzinga C, Angeloni T, Rosenthal SH, Goos-Root D, Siaw M, Platt J, Braastadt C, Cheng L, Ross D, Sun W.

PLoS One. 2015 Aug 21;10(8):e0136419. doi: 10.1371/journal.pone.0136419. eCollection 2015.

10.

Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay.

Hemmat M, Yang X, Chan P, McGough RA, Ross L, Mahon LW, Anguiano AL, Boris WT, Elnaggar MM, Wang JC, Strom CM, Boyar FZ.

Mol Cytogenet. 2014 Aug 29;7:50. doi: 10.1186/1755-8166-7-50. eCollection 2014.

11.

Submicroscopic deletion of 5q involving tumor suppressor genes (CTNNA1, HSPA9) and copy neutral loss of heterozygosity associated with TET2 and EZH2 mutations in a case of MDS with normal chromosome and FISH results.

Hemmat M, Chen W, Anguiano A, Naggar ME, Racke FK, Jones D, Wang Y, Strom CM, Chang K, Boyar FZ.

Mol Cytogenet. 2014 May 27;7:35. doi: 10.1186/1755-8166-7-35. eCollection 2014.

12.

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.

Wang JC, Ross L, Mahon LW, Owen R, Hemmat M, Wang BT, El Naggar M, Kopita KA, Randolph LM, Chase JM, Matas Aguilera MJ, Siles JL, Church JA, Hauser N, Shen JJ, Jones MC, Wierenga KJ, Jiang Z, Haddadin M, Boyar FZ, Anguiano A, Strom CM, Sahoo T.

Eur J Hum Genet. 2015 May;23(5):663-71. doi: 10.1038/ejhg.2014.153. Epub 2014 Aug 13.

13.

Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing.

Dar P, Curnow KJ, Gross SJ, Hall MP, Stosic M, Demko Z, Zimmermann B, Hill M, Sigurjonsson S, Ryan A, Banjevic M, Kolacki PL, Koch SW, Strom CM, Rabinowitz M, Benn P.

Am J Obstet Gynecol. 2014 Nov;211(5):527.e1-527.e17. doi: 10.1016/j.ajog.2014.08.006. Epub 2014 Aug 8.

14.

Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases.

Wang JC, Sahoo T, Schonberg S, Kopita KA, Ross L, Patek K, Strom CM.

Genet Med. 2015 Mar;17(3):234-6. doi: 10.1038/gim.2014.92. Epub 2014 Aug 7.

PMID:
25101914
15.

Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster.

Hemmat M, Rumple MJ, Mahon LW, Strom CM, Anguiano A, Talai M, Nguyen B, Boyar FZ.

Mol Cytogenet. 2014 Apr 16;7:27. doi: 10.1186/1755-8166-7-27. eCollection 2014.

16.

Measurement of cetuximab and panitumumab-unbound serum EGFR extracellular domain using an assay based on slow off-rate modified aptamer (SOMAmer) reagents.

Park NJ, Wang X, Diaz A, Goos-Root DM, Bock C, Vaught JD, Sun W, Strom CM.

PLoS One. 2013 Aug 21;8(8):e71703. doi: 10.1371/journal.pone.0071703. eCollection 2013.

17.

Isocyanate exposure assessment combining industrial hygiene methods with biomonitoring for end users of orthopedic casting products.

Pearson RL, Logan PW, Kore AM, Strom CM, Brosseau LM, Kingston RL.

Ann Occup Hyg. 2013 Jul;57(6):758-65. doi: 10.1093/annhyg/mes110. Epub 2013 May 16.

18.

Changing trends in laboratory testing in the United States: a personal, historical perspective.

Strom CM.

Clin Lab Med. 2012 Dec;32(4):651-64. doi: 10.1016/j.cll.2012.07.003. Review.

PMID:
23078665
19.

Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology.

Hantash FM, Wang BT, Owen R, Ross LP, Mahon LW, Boyar FZ, Anguiano A, Strom CM.

J Pediatr Genet. 2012 Jun;1(2):115-24. doi: 10.3233/PGE-2012-019.

20.

The sensitivity and specificity of hyperglycosylated hCG (hhCG) levels to reliably diagnose clinical IVF pregnancies at 6 days following embryo transfer.

Strom CM, Bonilla-Guererro R, Zhang K, Doody KJ, Tourgeman D, Alvero R, Cedars MI, Crossley B, Pandian R, Sharma R, Neidich J, Salazar D.

J Assist Reprod Genet. 2012 Jul;29(7):609-14. doi: 10.1007/s10815-012-9774-2. Epub 2012 Apr 24.

21.

Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory.

Anguiano A, Wang BT, Wang SR, Boyar FZ, Mahon LW, El Naggar MM, Kohn PH, Haddadin MH, Sulcova V, Sbeiti AH, Ayad MS, White BJ, Strom CM.

Mol Cytogenet. 2012 Jan 16;5:3. doi: 10.1186/1755-8166-5-3.

22.

Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory.

Strom CM, Goos D, Crossley B, Zhang K, Buller-Burkle A, Jarvis M, Quan F, Peng M, Sun W.

Genet Med. 2012 Jan;14(1):95-100. doi: 10.1038/gim.0b013e3182329870. Epub 2011 Oct 7.

PMID:
22237437
23.
24.

The importance of β globin deletion analysis in the evaluation of patients with β thalassemia.

Mikula M, Buller-Burckle A, Gallivan M, Sun W, Franklin CR, Strom CM.

Int J Lab Hematol. 2011 Jun;33(3):310-7. doi: 10.1111/j.1751-553X.2010.01287.x. Epub 2011 Jan 11.

PMID:
21219590
26.

Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis.

Strom CM, Crossley B, Buller-Buerkle A, Jarvis M, Quan F, Peng M, Muralidharan K, Pratt V, Redman JB, Sun W.

Genet Med. 2011 Feb;13(2):166-72. doi: 10.1097/GIM.0b013e3181fa24c4.

PMID:
21068670
27.

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM, Ben-Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA, Attié-Bitach T, Gleeson JG.

Nat Genet. 2010 Jul;42(7):619-25. doi: 10.1038/ng.594. Epub 2010 May 30.

28.

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.

Hantash FM, Goos DG, Tsao D, Quan F, Buller-Burckle A, Peng M, Jarvis M, Sun W, Strom CM.

Genet Med. 2010 Mar;12(3):162-73. doi: 10.1097/GIM.0b013e3181d0d40e.

PMID:
20168238
29.

Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.

Park NJ, Morgan C, Sharma R, Li Y, Lobo RM, Redman JB, Salazar D, Sun W, Neidich JA, Strom CM.

Pediatr Res. 2010 Feb;67(2):217-20. doi: 10.1203/PDR.0b013e3181c6e318.

PMID:
19858779
30.

Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion.

Hantash FM, Rebuyon A, Peng M, Redman JB, Sun W, Strom CM.

J Mol Diagn. 2009 May;11(3):253-6. doi: 10.2353/jmoldx.2009.080117. Epub 2009 Mar 26.

31.

Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations.

Mikula M, Buller A, Sun W, Strom CM.

Genet Med. 2008 May;10(5):349-52. doi: 10.1097/GIM.0b013e3181723cc8.

PMID:
18496034
32.

Clinical array comparative genomic hybridization: a new paradigm.

Chan P, Anguiano A, Hensley K, Keo N, Liu Y, Sarno R, Strom CM, Owen R.

Expert Opin Med Diagn. 2008 Apr;2(4):449-59. doi: 10.1517/17530059.2.4.449.

PMID:
23495710
33.

Academic and commercial genetic testing laboratories: complementary if not complimentary.

Strom CM.

Per Med. 2007 Nov;4(4):489-495. doi: 10.2217/17410541.4.4.489.

PMID:
29793273
34.

Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene.

Hantash FM, Redman JB, Goos D, Kammesheidt A, McGinniss MJ, Sun W, Strom CM.

J Mol Diagn. 2007 Sep;9(4):556-60. Epub 2007 Aug 9.

35.

Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome.

Strom CM, Huang D, Li Y, Hantash FM, Rooke J, Potts SJ, Sun W.

Genet Med. 2007 Apr;9(4):199-207.

PMID:
17438383
36.

Development of a web-based query tool for quality assurance of clinical molecular genetic test results.

McGinniss MJ, Chen R, Pratt VM, Buller A, Quan F, Strom CM, Sun W, Crossley B.

J Mol Diagn. 2007 Feb;9(1):95-8.

37.

Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory.

Strom CM, Crossley B, Redman JB, Buller A, Quan F, Peng M, McGinnis M, Fenwick RG Jr, Sun W.

Genet Med. 2007 Jan;9(1):46-51.

PMID:
17224689
38.

Prenatal diagnosis for primary congenital glaucoma (bupthalmous).

Strom CM, Strom S, Redman Ms J, Sun W.

Prenat Diagn. 2006 Sep;26(9):877. No abstract available.

PMID:
16941518
39.
40.

Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population.

Hantash FM, Olson SC, Anderson B, Buller A, Chen R, Crossly B, Sun W, Strom CM.

J Mol Diagn. 2006 May;8(2):282-7.

41.

A large deletion in the CFTR gene in CBAVD.

Hantash FM, Milunsky A, Wang Z, Anderson B, Sun W, Anguiano A, Strom CM.

Genet Med. 2006 Feb;8(2):93-5.

PMID:
16481891
42.

Multiple property tolerance analysis for the evaluation of missense mutations.

Lee TS, Potts SJ, McGinniss MJ, Strom CM.

Evol Bioinform Online. 2007 Feb 24;2:321-32.

43.

Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.

Hantash FM, Redman JB, Starn K, Anderson B, Buller A, McGinniss MJ, Quan F, Peng M, Sun W, Strom CM.

Hum Genet. 2006 Mar;119(1-2):126-36. Epub 2005 Dec 17. Erratum in: Hum Genet. 2006 Apr;119(3):352.

PMID:
16362824
44.

Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descent.

Strom CM, Janeczko RA, Anderson B, Redman J, Quan F, Buller A, McGinniss MJ, Sun WM.

Genet Med. 2005 Nov-Dec;7(9):633-9.

PMID:
16301865
45.

Sequence variations in AGTR2 are unlikely to be associated with X-linked mental retardation.

Huang D, Sun W, Strom CM.

Am J Med Genet A. 2005 Dec 15;139(3):243-4. No abstract available.

PMID:
16283672
46.

Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.

McGinniss MJ, Chen C, Redman JB, Buller A, Quan F, Peng M, Giusti R, Hantash FM, Huang D, Sun W, Strom CM.

Hum Genet. 2005 Dec;118(3-4):331-8. Epub 2005 Sep 28.

PMID:
16189704
47.

Genetically characterized positive control cell lines derived from residual clinical blood samples.

Bernacki SH, Beck JC, Stankovic AK, Williams LO, Amos J, Snow-Bailey K, Farkas DH, Friez MJ, Hantash FM, Matteson KJ, Monaghan KG, Muralidharan K, Pratt VM, Prior TW, Richie KL, Levin BC, Rohlfs EM, Schaefer FV, Shrimpton AE, Spector EB, Stolle CA, Strom CM, Thibodeau SN, Cole EC, Goodman BK, Stenzel TT.

Clin Chem. 2005 Nov;51(11):2013-24. Epub 2005 Sep 15.

48.

Detection of 677CT/1298AC "double variant" chromosomes: implications for interpretation of MTHFR genotyping results.

Brown NM, Pratt VM, Buller A, Pike-Buchanan L, Redman JB, Sun W, Chen R, Crossley B, McGinniss MJ, Quan F, Strom CM.

Genet Med. 2005 Apr;7(4):278-82.

PMID:
15834246
49.

Mutation detection, interpretation, and applications in the clinical laboratory setting.

Strom CM.

Mutat Res. 2005 Jun 3;573(1-2):160-7. Review.

PMID:
15829245
50.

High-throughput gene sequencing assay development for hereditary nonpolyposis colon cancer.

Huang D, Chen C, Sun W, Strom CM, Bender RA.

Clin Colorectal Cancer. 2004 Nov;4(4):275-9.

PMID:
15555211

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