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Items: 42

1.

GOPC-ROS1 Fusion Due to Microdeletion at 6q22 Is an Oncogenic Driver in a Subset of Pediatric Gliomas and Glioneuronal Tumors.

Richardson TE, Tang K, Vasudevaraja V, Serrano J, William CM, Mirchia K, Pierson CR, Leonard JR, AbdelBaki MS, Schieffer KM, Cottrell CE, Tovar-Spinoza Z, Comito MA, Boué DR, Jour G, Snuderl M.

J Neuropathol Exp Neurol. 2019 Dec 1;78(12):1089-1099. doi: 10.1093/jnen/nlz093.

PMID:
31626289
2.

Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort.

McNulty SN, Evenson MJ, Corliss MM, Love-Gregory LD, Schroeder MC, Cao Y, Lee YS, Drolet BA, Neidich JA, Cottrell CE, Heusel JW.

Am J Hum Genet. 2019 Oct 3;105(4):734-746. doi: 10.1016/j.ajhg.2019.09.002.

PMID:
31585106
3.

Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.

Barrie ES, Cottrell CE, Gastier-Foster J, Hickey SE, Patel AD, Santoro SL, Alfaro MP.

Eur J Med Genet. 2019 Aug 12:103735. doi: 10.1016/j.ejmg.2019.103735. [Epub ahead of print]

PMID:
31415821
4.

Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads.

Darby CA, Fitch JR, Brennan PJ, Kelly BJ, Bir N, Magrini V, Leonard J, Cottrell CE, Gastier-Foster JM, Wilson RK, Mardis ER, White P, Langmead B, Schatz MC.

iScience. 2019 Aug 30;18:1-10. doi: 10.1016/j.isci.2019.05.037. Epub 2019 May 29.

5.

Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.

Schieffer KM, Varga E, Miller KE, Agarwal V, Koboldt DC, Brennan P, Kelly B, Dave-Wala A, Pierson CR, Finlay JL, AbdelBaki MS, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE.

Eur J Med Genet. 2019 Aug;62(8):103701. doi: 10.1016/j.ejmg.2019.103701. Epub 2019 Jun 10.

PMID:
31195167
6.

Beyond sequence variation: assessment of copy number variation in adult glioblastoma through targeted tumor somatic profiling.

McNulty SN, Cottrell CE, Vigh-Conrad KA, Carter JH, Heusel JW, Ansstas G, Dahiya S.

Hum Pathol. 2019 Apr;86:170-181. doi: 10.1016/j.humpath.2018.12.004. Epub 2018 Dec 27.

PMID:
30594748
7.

Comprehensive Validation of Cytology Specimens for Next-Generation Sequencing and Clinical Practice Experience.

Balla A, Hampel KJ, Sharma MK, Cottrell CE, Sidiropoulos N.

J Mol Diagn. 2018 Nov;20(6):812-821. doi: 10.1016/j.jmoldx.2018.06.001. Epub 2018 Jul 6.

PMID:
29981866
8.

The Effect of Presentation Level on the SCAN-3 in Children and Adults.

Stoody TM, Cottrell CE.

Am J Audiol. 2018 Jun 8;27(2):238-245. doi: 10.1044/2018_AJA-17-0098.

PMID:
29800988
9.

Scarring in Patients With PIK3CA-Related Overgrowth Syndromes.

Steiner JE, Cottrell CE, Streicher JL, Jensen JN, King DM, Burrows PE, Siegel DH, Tollefson MM, Drolet BA, Püttgen KB.

JAMA Dermatol. 2018 Apr 1;154(4):452-455. doi: 10.1001/jamadermatol.2017.6189.

10.

Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma.

Miller KE, Kelly B, Fitch J, Ross N, Avenarius MR, Varga E, Koboldt DC, Boué DR, Magrini V, Coven SL, Finlay JL, Cottrell CE, White P, Gastier-Foster JM, Wilson RK, Leonard J, Mardis ER.

Cold Spring Harb Mol Case Stud. 2018 Apr 2;4(2). pii: a002618. doi: 10.1101/mcs.a002618. Print 2018 Apr.

11.

Genomic heterogeneity of ALK fusion breakpoints in non-small-cell lung cancer.

Rosenbaum JN, Bloom R, Forys JT, Hiken J, Armstrong JR, Branson J, McNulty S, Velu PD, Pepin K, Abel H, Cottrell CE, Pfeifer JD, Kulkarni S, Govindan R, Konnick EQ, Lockwood CM, Duncavage EJ.

Mod Pathol. 2018 May;31(5):791-808. doi: 10.1038/modpathol.2017.181. Epub 2018 Jan 12.

12.

Mosaic pathogenic HRAS variant in a patient with nevus spilus with agminated Spitz nevi and parametrial-uterine rhabdomyosarcoma.

Nemeth K, Szabo S, Cottrell CE, McNulty SM, Segura A, Sokumbi O, Browning M, Siegel DH.

Br J Dermatol. 2018 Mar;178(3):804-806. doi: 10.1111/bjd.16155. Epub 2018 Feb 19. No abstract available.

PMID:
29193020
13.

Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics.

Siegel DH, Cottrell CE, Streicher JL, Schilter KF, Basel DG, Baselga E, Burrows PE, Ciliberto HM, Vigh-Conrad KA, Eichenfield LF, Holland KE, Hogeling M, Jensen JN, Kelly ME, Kim W, King DM, McCuaig C, Mueller KA, Pope E, Powell J, Price H, Steiner JE, Frieden IJ, Tollefson MM, Drolet BA.

J Invest Dermatol. 2018 Apr;138(4):957-967. doi: 10.1016/j.jid.2017.10.033. Epub 2017 Nov 22.

14.

FGFR2 amplification in colorectal adenocarcinoma.

Carter JH, Cottrell CE, McNulty SN, Vigh-Conrad KA, Lamp S, Heusel JW, Duncavage EJ.

Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a001495. doi: 10.1101/mcs.a001495. Print 2017 Nov.

15.

Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies.

Gaut JP, Jain S, Pfeifer JD, Vigh-Conrad KA, Corliss M, Sharma MK, Heusel JW, Cottrell CE.

Mod Pathol. 2017 Dec;30(12):1739-1747. doi: 10.1038/modpathol.2017.90. Epub 2017 Jul 28.

16.

Spectrum of mutations in leiomyosarcomas identified by clinical targeted next-generation sequencing.

Lee PJ, Yoo NS, Hagemann IS, Pfeifer JD, Cottrell CE, Abel HJ, Duncavage EJ.

Exp Mol Pathol. 2017 Feb;102(1):156-161. doi: 10.1016/j.yexmp.2017.01.012. Epub 2017 Jan 14.

PMID:
28093192
17.

Targeted Next-Generation Sequencing in Molecular Subtyping of Lower-Grade Diffuse Gliomas: Application of the World Health Organization's 2016 Revised Criteria for Central Nervous System Tumors.

Carter JH, McNulty SN, Cimino PJ, Cottrell CE, Heusel JW, Vigh-Conrad KA, Duncavage EJ.

J Mol Diagn. 2017 Mar;19(2):328-337. doi: 10.1016/j.jmoldx.2016.10.010. Epub 2016 Dec 30.

PMID:
28042970
18.

Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum.

Hucthagowder V, Shenoy A, Corliss M, Vigh-Conrad KA, Storer C, Grange DK, Cottrell CE.

Clin Genet. 2017 Jan;91(1):79-85. doi: 10.1111/cge.12819. Epub 2016 Jul 26.

PMID:
27307077
19.

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

Zhang B, Willing M, Grange DK, Shinawi M, Manwaring L, Vineyard M, Kulkarni S, Cottrell CE.

Am J Med Genet A. 2016 Mar;170(3):583-93. doi: 10.1002/ajmg.a.37445. Epub 2015 Nov 24.

PMID:
26601658
20.

Occult Specimen Contamination in Routine Clinical Next-Generation Sequencing Testing.

Sehn JK, Spencer DH, Pfeifer JD, Bredemeyer AJ, Cottrell CE, Abel HJ, Duncavage EJ.

Am J Clin Pathol. 2015 Oct;144(4):667-74. doi: 10.1309/AJCPR88WDJJLDMBN.

PMID:
26386089
21.

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Olfson E, Cottrell CE, Davidson NO, Gurnett CA, Heusel JW, Stitziel NO, Chen LS, Hartz S, Nagarajan R, Saccone NL, Bierut LJ.

PLoS One. 2015 Sep 2;10(9):e0135193. doi: 10.1371/journal.pone.0135193. eCollection 2015.

22.

Digynic triploidy: utility and challenges of noninvasive prenatal testing.

Fleischer J, Shenoy A, Goetzinger K, Cottrell CE, Baldridge D, White FV, Shinawi M.

Clin Case Rep. 2015 Jun;3(6):406-10. doi: 10.1002/ccr3.247. Epub 2015 Apr 9.

23.

Clinical next-generation sequencing in patients with non-small cell lung cancer.

Hagemann IS, Devarakonda S, Lockwood CM, Spencer DH, Guebert K, Bredemeyer AJ, Al-Kateb H, Nguyen TT, Duncavage EJ, Cottrell CE, Kulkarni S, Nagarajan R, Seibert K, Baggstrom M, Waqar SN, Pfeifer JD, Morgensztern D, Govindan R.

Cancer. 2015 Feb 15;121(4):631-9. doi: 10.1002/cncr.29089. Epub 2014 Oct 24.

24.

Aggressive congenital juvenile myelomonocytic leukemia associated with somatic KRAS p.G13D mutation and concurrent germline IGF1R duplication.

Kothari A, Hulbert ML, Cottrell CE, Nguyen TT.

Leuk Lymphoma. 2015 Apr;56(4):1175-8. doi: 10.3109/10428194.2014.953152. Epub 2014 Sep 29. No abstract available.

PMID:
25110823
25.

Detection of gene rearrangements in targeted clinical next-generation sequencing.

Abel HJ, Al-Kateb H, Cottrell CE, Bredemeyer AJ, Pritchard CC, Grossmann AH, Wallander ML, Pfeifer JD, Lockwood CM, Duncavage EJ.

J Mol Diagn. 2014 Jul;16(4):405-17. doi: 10.1016/j.jmoldx.2014.03.006. Epub 2014 May 9.

26.

Diagnostic utility of targeted next-generation sequencing in problematic cases.

Sehn JK, Hagemann IS, Pfeifer JD, Cottrell CE, Lockwood CM.

Am J Surg Pathol. 2014 Apr;38(4):534-41. doi: 10.1097/PAS.0000000000000161.

PMID:
24451277
27.

Stabilization of disease after targeted therapy in a thymic carcinoma with KIT mutation detected by clinical next-generation sequencing.

Hagemann IS, Govindan R, Javidan-Nejad C, Pfeifer JD, Cottrell CE.

J Thorac Oncol. 2014 Feb;9(2):e12-6. doi: 10.1097/JTO.0b013e3182a7d22e.

28.

Design of targeted, capture-based, next generation sequencing tests for precision cancer therapy.

Hagemann IS, Cottrell CE, Lockwood CM.

Cancer Genet. 2013 Dec;206(12):420-31. doi: 10.1016/j.cancergen.2013.11.003. Epub 2013 Nov 22. Review.

PMID:
24388712
29.

Clinical genomicist workstation.

Sharma MK, Phillips J, Agarwal S, Wiggins WS, Shrivastava S, Koul SB, Bhattacharjee M, Houchins CD, Kalakota RR, George B, Meyer RR, Spencer DH, Lockwood CM, Nguyen TT, Duncavage EJ, Al-Kateb H, Cottrell CE, Godala S, Lokineni R, Sawant SM, Chatti V, Surampudi S, Sunkishala RR, Darbha R, Macharla S, Milbrandt JD, Virgin HW, Mitra RD, Head RD, Kulkarni S, Bredemeyer A, Pfeifer JD, Seibert K, Nagarajan R.

AMIA Jt Summits Transl Sci Proc. 2013 Mar 18;2013:156-7. eCollection 2013.

PMID:
24303327
30.

Validation of a next-generation sequencing assay for clinical molecular oncology.

Cottrell CE, Al-Kateb H, Bredemeyer AJ, Duncavage EJ, Spencer DH, Abel HJ, Lockwood CM, Hagemann IS, O'Guin SM, Burcea LC, Sawyer CS, Oschwald DM, Stratman JL, Sher DA, Johnson MR, Brown JT, Cliften PF, George B, McIntosh LD, Shrivastava S, Nguyen TT, Payton JE, Watson MA, Crosby SD, Head RD, Mitra RD, Nagarajan R, Kulkarni S, Seibert K, Virgin HW 4th, Milbrandt J, Pfeifer JD.

J Mol Diagn. 2014 Jan;16(1):89-105. doi: 10.1016/j.jmoldx.2013.10.002. Epub 2013 Nov 6.

31.

Outcome modeling with CRLF2, IKZF1, JAK, and minimal residual disease in pediatric acute lymphoblastic leukemia: a Children's Oncology Group study.

Chen IM, Harvey RC, Mullighan CG, Gastier-Foster J, Wharton W, Kang H, Borowitz MJ, Camitta BM, Carroll AJ, Devidas M, Pullen DJ, Payne-Turner D, Tasian SK, Reshmi S, Cottrell CE, Reaman GH, Bowman WP, Carroll WL, Loh ML, Winick NJ, Hunger SP, Willman CL.

Blood. 2012 Apr 12;119(15):3512-22. doi: 10.1182/blood-2011-11-394221. Epub 2012 Feb 24.

32.

Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology.

Cottrell CE, Mendell J, Hart-Kothari M, Ell D, Thrush DL, Astbury C, Pastore M, Gastier-Foster JM, Pyatt RE.

Clin Genet. 2012 Jun;81(6):578-83. doi: 10.1111/j.1399-0004.2011.01681.x. Epub 2011 May 4.

PMID:
21480868
33.

Contactin 4 as an autism susceptibility locus.

Cottrell CE, Bir N, Varga E, Alvarez CE, Bouyain S, Zernzach R, Thrush DL, Evans J, Trimarchi M, Butter EM, Cunningham D, Gastier-Foster JM, McBride KL, Herman GE.

Autism Res. 2011 Jun;4(3):189-99. doi: 10.1002/aur.184. Epub 2011 Feb 9.

34.

Proteasome-inhibitory and cytotoxic constituents of Garcinia lateriflora: absolute configuration of caged xanthones.

Ren Y, Lantvit DD, Carcache de Blanco EJ, Kardono LB, Riswan S, Chai H, Cottrell CE, Farnsworth NR, Swanson SM, Ding Y, Li XC, Marais JP, Ferreira D, Kinghorn AD.

Tetrahedron. 2010 Jul 17;66(29):5311-5320.

35.

Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization.

Cottrell CE, Prior TW, Pyatt R, Astbury C, Reshmi S, Bartholomew D, Atkin J, Manickam K, Thrush DL, Pastore M, Mendell J, Tsao CY, Al-Dahhak R, Newmeyer A, Gastier-Foster JM.

Am J Med Genet A. 2010 Sep;152A(9):2301-7. doi: 10.1002/ajmg.a.33532.

PMID:
20683981
36.

Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy.

Cottrell CE, Sommer A, Wenger GD, Bullard S, Busch T, Krahn KN, Lidral AC, Gastier-Foster JM.

Am J Med Genet A. 2009 Mar;149A(3):408-14. doi: 10.1002/ajmg.a.32699.

37.

Effect of alcohols on the stability of iprodione in solution.

Anisuzzaman AK, Storehalder T, Williams DC, Ogg N, Kilbourne TD, Johnsamuel J, Cottrell CE.

J Agric Food Chem. 2008 Jan 23;56(2):502-6. Epub 2007 Dec 20.

PMID:
18092749
38.

15N resonance assignments of oxidized and reduced Chromatium vinosum high-potential iron protein.

Li D, Cottrell CE, Cowan JA.

J Protein Chem. 1995 Apr;14(3):115-26.

PMID:
7576079
39.

Ohioensins and pallidisetins: novel cytotoxic agents from the moss Polytrichum pallidisetum.

Zheng GQ, Ho DK, Elder PJ, Stephens RE, Cottrell CE, Cassady JM.

J Nat Prod. 1994 Jan;57(1):32-41.

PMID:
7512623
40.

Chemical transformation of sugar nucleotides: acetylation of uridine 5'-(alpha-D-glucopyranosyl diphosphate).

Appleton ML, Cottrell CE, Behrman EJ.

Carbohydr Res. 1990 Oct 10;206(2):373-7. No abstract available.

PMID:
2073642
41.

N.m.r. assignments of acetyl and trityl groups in derivatized carbohydrates via proton-carbon long-range couplings.

Appleton ML, Cottrell CE, Behrman EJ.

Carbohydr Res. 1986 Dec 15;158:227-35. No abstract available.

PMID:
3829039
42.

Further studies on the biosynthesis of chlorothricin.

Lee JJ, Lee JP, Keller PJ, Cottrell CE, Chang C, Zähner H, Floss HG.

J Antibiot (Tokyo). 1986 Aug;39(8):1123-34.

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