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Items: 1 to 50 of 64

1.

High-throughput Sequencing of Subcutaneous Panniculitis-like T-Cell Lymphoma Reveals Candidate Pathogenic Mutations.

Fernandez-Pol S, Costa HA, Steiner DF, Ma L, Merker JD, Kim YH, Arber DA, Kim J.

Appl Immunohistochem Mol Morphol. 2019 Nov/Dec;27(10):740-748. doi: 10.1097/PAI.0000000000000683.

PMID:
31702703
2.

Comparative Performance of High-Risk Human Papillomavirus RNA and DNA In Situ Hybridization on College of American Pathologists Proficiency Tests.

Keung ES, Souers RJ, Bridge JA, Faquin WC, Graham RP, Hameed MR, Lewis JS Jr, Merker JD, Vasalos P, Moncur JT.

Arch Pathol Lab Med. 2019 Sep 4. doi: 10.5858/arpa.2019-0093-CP. [Epub ahead of print]

PMID:
31483999
3.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.

Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium, Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB.

Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3.

PMID:
31160820
4.

Performance Comparison of Different Analytic Methods in Proficiency Testing for Mutations in the BRAF, EGFR, and KRAS Genes: A Study of the College of American Pathologists Molecular Oncology Committee.

Moncur JT, Bartley AN, Bridge JA, Kamel-Reid S, Lazar AJ, Lindeman NI, Long TA, Merker JD, Rai AJ, Rimm DL, Rothberg PG, Vasalos P, Kim AS.

Arch Pathol Lab Med. 2019 Oct;143(10):1203-1211. doi: 10.5858/arpa.2018-0396-CP. Epub 2019 Apr 10.

PMID:
30969158
5.

Next-Generation Sequencing (NGS) Methods Show Superior or Equivalent Performance to Non-NGS Methods on BRAF, EGFR, and KRAS Proficiency Testing Samples.

Surrey LF, Oakley FD, Merker JD, Long TA, Vasalos P, Moncur JT, Kim AS.

Arch Pathol Lab Med. 2019 Aug;143(8):980-984. doi: 10.5858/arpa.2018-0394-CP. Epub 2019 Mar 13.

PMID:
30865489
6.

Revisiting diagnostic criteria for myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis: Borderline cases without anemia exist.

Li P, Shahmarvand N, Lynch D, Gotlib JR, Merker JD, Zehnder JL, George TI, Ohgami RS.

Int J Lab Hematol. 2019 Jun;41(3):345-352. doi: 10.1111/ijlh.12981. Epub 2019 Feb 27.

PMID:
30811101
7.

Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories.

Santani A, Simen BB, Briggs M, Lebo M, Merker JD, Nikiforova M, Vasalos P, Voelkerding K, Pfeifer J, Funke B.

J Mol Diagn. 2019 May;21(3):369-374. doi: 10.1016/j.jmoldx.2018.11.004. Epub 2018 Dec 31. Review.

PMID:
30605766
8.

Proficiency Testing of Standardized Samples Shows Very High Interlaboratory Agreement for Clinical Next-Generation Sequencing-Based Oncology Assays.

Merker JD, Devereaux K, Iafrate AJ, Kamel-Reid S, Kim AS, Moncur JT, Montgomery SB, Nagarajan R, Portier BP, Routbort MJ, Smail C, Surrey LF, Vasalos P, Lazar AJ, Lindeman NI.

Arch Pathol Lab Med. 2019 Apr;143(4):463-471. doi: 10.5858/arpa.2018-0336-CP. Epub 2018 Oct 30.

PMID:
30376374
9.

Impact of somatic and germline mutations on the outcome of systemic mastocytosis.

Muñoz-González JI, Jara-Acevedo M, Alvarez-Twose I, Merker JD, Teodosio C, Hou Y, Henriques A, Roskin KM, Sanchez-Muñoz L, Tsai AG, Caldas C, Matito A, Sánchez-Gallego JI, Mayado A, Dasilva-Freire N, Gotlib JR, Escribano L, Orfao A, García-Montero AC.

Blood Adv. 2018 Nov 13;2(21):2814-2828. doi: 10.1182/bloodadvances.2018020628.

10.

Combined three-dimensional gait and plantar pressure analyses detecting significant functional deficits in children with juvenile idiopathic arthritis.

Merker J, Hartmann M, Haas JP, Schwirtz A.

Gait Posture. 2018 Oct;66:247-254. doi: 10.1016/j.gaitpost.2018.08.041. Epub 2018 Sep 9.

PMID:
30218839
11.

[Back to school physical education despite rheumatism : Development and testing of a sport scientific-based physical education certification].

Hartmann M, Merker J, Schrödl S, König M, Georgi M, Hinze C, Schwirtz A, Haas JP.

Z Rheumatol. 2018 Oct;77(8):651-666. doi: 10.1007/s00393-018-0518-2. Review. German.

PMID:
30069740
12.

Accuracy and precision of loadsol® insole force-sensors for the quantification of ground reaction force-based biomechanical running parameters.

Seiberl W, Jensen E, Merker J, Leitel M, Schwirtz A.

Eur J Sport Sci. 2018 Sep;18(8):1100-1109. doi: 10.1080/17461391.2018.1477993. Epub 2018 May 29.

PMID:
29842825
13.

Circulating Tumor DNA Analysis in Patients With Cancer: American Society of Clinical Oncology and College of American Pathologists Joint Review.

Merker JD, Oxnard GR, Compton C, Diehn M, Hurley P, Lazar AJ, Lindeman N, Lockwood CM, Rai AJ, Schilsky RL, Tsimberidou AM, Vasalos P, Billman BL, Oliver TK, Bruinooge SS, Hayes DF, Turner NC.

J Clin Oncol. 2018 Jun 1;36(16):1631-1641. doi: 10.1200/JCO.2017.76.8671. Epub 2018 Mar 5. Review.

PMID:
29504847
14.

Circulating Tumor DNA Analysis in Patients With Cancer: American Society of Clinical Oncology and College of American Pathologists Joint Review.

Merker JD, Oxnard GR, Compton C, Diehn M, Hurley P, Lazar AJ, Lindeman N, Lockwood CM, Rai AJ, Schilsky RL, Tsimberidou AM, Vasalos P, Billman BL, Oliver TK, Bruinooge SS, Hayes DF, Turner NC.

Arch Pathol Lab Med. 2018 Oct;142(10):1242-1253. doi: 10.5858/arpa.2018-0901-SA. Epub 2018 Mar 5. Review.

PMID:
29504834
15.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM; Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT.

Am J Hum Genet. 2018 Mar 1;102(3):494-504. doi: 10.1016/j.ajhg.2018.01.020. Epub 2018 Feb 22.

16.

Comparison of Laboratory-Developed Tests and FDA-Approved Assays for BRAF, EGFR, and KRAS Testing.

Kim AS, Bartley AN, Bridge JA, Kamel-Reid S, Lazar AJ, Lindeman NI, Long TA, Merker JD, Rai AJ, Rimm DL, Rothberg PG, Vasalos P, Moncur JT.

JAMA Oncol. 2018 Jun 1;4(6):838-841. doi: 10.1001/jamaoncol.2017.4021.

17.

A Window Into Clinical Next-Generation Sequencing-Based Oncology Testing Practices.

Nagarajan R, Bartley AN, Bridge JA, Jennings LJ, Kamel-Reid S, Kim A, Lazar AJ, Lindeman NI, Moncur J, Rai AJ, Routbort MJ, Vasalos P, Merker JD.

Arch Pathol Lab Med. 2017 Dec;141(12):1679-1685. doi: 10.5858/arpa.2016-0542-CP. Epub 2017 Oct 13.

PMID:
29028368
18.

A novel TRIP11-FLT3 fusion in a patient with a myeloid/lymphoid neoplasm with eosinophilia.

Chung A, Hou Y, Ohgami RS, Von Gehr A, Fisk DG, Roskin KM, Li X, Gojenola L, Bangs CD, Arber DA, Fire AZ, Cherry AM, Zehnder JL, Gotlib J, Merker JD.

Cancer Genet. 2017 Oct;216-217:10-15. doi: 10.1016/j.cancergen.2017.05.001. Epub 2017 May 10.

PMID:
29025582
19.

The impact of rare variation on gene expression across tissues.

Li X, Kim Y, Tsang EK, Davis JR, Damani FN, Chiang C, Hess GT, Zappala Z, Strober BJ, Scott AJ, Li A, Ganna A, Bassik MC, Merker JD; GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group; Statistical Methods groups—Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site—NDRI; Biospecimen Collection Source Site—RPCI; Biospecimen Core Resource—VARI; Brain Bank Repository—University of Miami Brain Endowment Bank; Leidos Biomedical—Project Management; ELSI Study; Genome Browser Data Integration &Visualization—EBI; Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz, Hall IM, Battle A, Montgomery SB.

Nature. 2017 Oct 11;550(7675):239-243. doi: 10.1038/nature24267.

20.

Intricate and Cell Type-Specific Populations of Endogenous Circular DNA (eccDNA) in Caenorhabditis elegans and Homo sapiens.

Shoura MJ, Gabdank I, Hansen L, Merker J, Gotlib J, Levene SD, Fire AZ.

G3 (Bethesda). 2017 Oct 5;7(10):3295-3303. doi: 10.1534/g3.117.300141.

21.

Efficacy and safety of midostaurin in patients with advanced systemic mastocytosis: 10-year median follow-up of a phase II trial.

DeAngelo DJ, George TI, Linder A, Langford C, Perkins C, Ma J, Westervelt P, Merker JD, Berube C, Coutre S, Liedtke M, Medeiros B, Sternberg D, Dutreix C, Ruffie PA, Corless C, Graubert TJ, Gotlib J.

Leukemia. 2018 Feb;32(2):470-478. doi: 10.1038/leu.2017.234. Epub 2017 Jul 24.

PMID:
28744009
22.

Long-read genome sequencing identifies causal structural variation in a Mendelian disease.

Merker JD, Wenger AM, Sneddon T, Grove M, Zappala Z, Fresard L, Waggott D, Utiramerur S, Hou Y, Smith KS, Montgomery SB, Wheeler M, Buchan JG, Lambert CC, Eng KS, Hickey L, Korlach J, Ford J, Ashley EA.

Genet Med. 2018 Jan;20(1):159-163. doi: 10.1038/gim.2017.86. Epub 2017 Jun 22.

23.

Excellent balance skills despite active and inactive juvenile idiopathic arthritis - unexpected results of a cross-sectional study.

Merker J, Hartmann M, Kreuzpointner F, Schwirtz A, Haas JP.

Clin Exp Rheumatol. 2017 Jan-Feb;35(1):161-168. Epub 2017 Jan 5.

PMID:
28079509
24.

Prevalence of Chronic Illness among Youth with DSM-IV-TR Axis I Diagnoses at a Large Mental Health Agency in Northeast Ohio.

Merker JM, Dolata J, Pike E, Newman E, Rex D, Sehgal AR.

Child Welfare. 2017;95(5):79-95.

25.

A Model Study of In Silico Proficiency Testing for Clinical Next-Generation Sequencing.

Duncavage EJ, Abel HJ, Merker JD, Bodner JB, Zhao Q, Voelkerding KV, Pfeifer JD.

Arch Pathol Lab Med. 2016 Oct;140(10):1085-91. doi: 10.5858/arpa.2016-0194-CP. Epub 2016 Jul 7.

PMID:
27388684
26.

A study of the mutational landscape of pediatric-type follicular lymphoma and pediatric nodal marginal zone lymphoma.

Ozawa MG, Bhaduri A, Chisholm KM, Baker SA, Ma L, Zehnder JL, Luna-Fineman S, Link MP, Merker JD, Arber DA, Ohgami RS.

Mod Pathol. 2016 Oct;29(10):1212-20. doi: 10.1038/modpathol.2016.102. Epub 2016 Jun 24.

27.

Complete response to gemtuzumab ozogamicin in a patient with refractory mast cell leukemia.

Alvarez-Twose I, Martínez-Barranco P, Gotlib J, García-Montero A, Morgado JM, Jara-Acevedo M, Merker JD, Peñalver FJ, Matito A, Hou Y, Sánchez-Muñoz L, Mayado A, Mollejo M, Escribano L, Orfao A.

Leukemia. 2016 Aug;30(8):1753-6. doi: 10.1038/leu.2016.30. Epub 2016 Feb 15. No abstract available.

PMID:
26876592
28.

Biomechanics of walking in adolescents with progressive pseudorheumatoid arthropathy of childhood leads to physical activity recommendations as therapeutic focus.

Hartmann M, Merker J, Haefner R, Haas JP, Schwirtz A.

Clin Biomech (Bristol, Avon). 2016 Jan;31:93-9. doi: 10.1016/j.clinbiomech.2015.09.015. Epub 2015 Sep 25.

PMID:
26447781
29.

Pathophysiology of juvenile idiopathic arthritis induced pes planovalgus in static and walking condition: a functional view using 3D gait analysis.

Merker J, Hartmann M, Kreuzpointner F, Schwirtz A, Haas JP.

Pediatr Rheumatol Online J. 2015 Jun 10;13:21. doi: 10.1186/s12969-015-0022-z.

30.

Mast cells in systemic mastocytosis have distinctly brighter CD45 expression by flow cytometry.

Chisholm KM, Merker JD, Gotlib JR, Gitana G, Lefterova M, Zehnder JL, George TI, Arber DA, Ohgami RS.

Am J Clin Pathol. 2015 Apr;143(4):527-34. doi: 10.1309/AJCPZ3J4GEEYIRRA.

PMID:
25780004
31.

Next-generation sequencing of acute myeloid leukemia identifies the significance of TP53, U2AF1, ASXL1, and TET2 mutations.

Ohgami RS, Ma L, Merker JD, Gotlib JR, Schrijver I, Zehnder JL, Arber DA.

Mod Pathol. 2015 May;28(5):706-14. doi: 10.1038/modpathol.2014.160. Epub 2014 Nov 21.

32.

A Balanced Look at the Implications of Genomic (and Other "Omics") Testing for Disease Diagnosis and Clinical Care.

Boyd SD, Galli SJ, Schrijver I, Zehnder JL, Ashley EA, Merker JD.

Genes (Basel). 2014 Sep 1;5(3):748-66. doi: 10.3390/genes5030748.

33.

College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.

Aziz N, Zhao Q, Bry L, Driscoll DK, Funke B, Gibson JS, Grody WW, Hegde MR, Hoeltge GA, Leonard DG, Merker JD, Nagarajan R, Palicki LA, Robetorye RS, Schrijver I, Weck KE, Voelkerding KV.

Arch Pathol Lab Med. 2015 Apr;139(4):481-93. doi: 10.5858/arpa.2014-0250-CP. Epub 2014 Aug 25.

PMID:
25152313
34.

Clinical interpretation and implications of whole-genome sequencing.

Dewey FE, Grove ME, Pan C, Goldstein BA, Bernstein JA, Chaib H, Merker JD, Goldfeder RL, Enns GM, David SP, Pakdaman N, Ormond KE, Caleshu C, Kingham K, Klein TE, Whirl-Carrillo M, Sakamoto K, Wheeler MT, Butte AJ, Ford JM, Boxer L, Ioannidis JP, Yeung AC, Altman RB, Assimes TL, Snyder M, Ashley EA, Quertermous T.

JAMA. 2014 Mar 12;311(10):1035-45. doi: 10.1001/jama.2014.1717.

35.

Comprehensive whole-genome sequencing of an early-stage primary myelofibrosis patient defines low mutational burden and non-recurrent candidate genes.

Merker JD, Roskin KM, Ng D, Pan C, Fisk DG, King JJ, Hoh R, Stadler M, Okumoto LM, Abidi P, Hewitt R, Jones CD, Gojenola L, Clark MJ, Zhang B, Cherry AM, George TI, Snyder M, Boyd SD, Zehnder JL, Fire AZ, Gotlib J.

Haematologica. 2013 Nov;98(11):1689-96. doi: 10.3324/haematol.2013.092379. Epub 2013 Jul 19.

36.

Feasibility of using microbeads with holographic barcodes to track DNA specimens in the clinical molecular laboratory.

Merker JD, O'Grady N, Gojenola L, Dao M, Lenta R, Yeakley JM, Schrijver I.

PeerJ. 2013 Jul 2;1:e91. doi: 10.7717/peerj.91. Print 2013.

37.

Next-generation sequencing in hematologic malignancies: what will be the dividends?

Merker JD, Valouev A, Gotlib J.

Ther Adv Hematol. 2012 Dec;3(6):333-9. doi: 10.1177/2040620712458948.

38.

STAT3 mutations are frequent in CD30+ T-cell lymphomas and T-cell large granular lymphocytic leukemia.

Ohgami RS, Ma L, Merker JD, Martinez B, Zehnder JL, Arber DA.

Leukemia. 2013 Nov;27(11):2244-7. doi: 10.1038/leu.2013.104. Epub 2013 Apr 8. No abstract available.

PMID:
23563237
39.

Assuring the quality of next-generation sequencing in clinical laboratory practice.

Gargis AS, Kalman L, Berry MW, Bick DP, Dimmock DP, Hambuch T, Lu F, Lyon E, Voelkerding KV, Zehnbauer BA, Agarwala R, Bennett SF, Chen B, Chin EL, Compton JG, Das S, Farkas DH, Ferber MJ, Funke BH, Furtado MR, Ganova-Raeva LM, Geigenmüller U, Gunselman SJ, Hegde MR, Johnson PL, Kasarskis A, Kulkarni S, Lenk T, Liu CS, Manion M, Manolio TA, Mardis ER, Merker JD, Rajeevan MS, Reese MG, Rehm HL, Simen BB, Yeakley JM, Zook JM, Lubin IM.

Nat Biotechnol. 2012 Nov;30(11):1033-6. doi: 10.1038/nbt.2403. No abstract available.

40.

Knowledge gaps about smoking cessation in hospitalized patients and their doctors.

Raupach T, Merker J, Hasenfuss G, Andreas S, Pipe A.

Eur J Cardiovasc Prev Rehabil. 2011 Apr;18(2):334-41. doi: 10.1177/1741826710389370. Epub 2011 Feb 11.

PMID:
21450679
41.

Individual variation in the germline Ig gene repertoire inferred from variable region gene rearrangements.

Boyd SD, Gaëta BA, Jackson KJ, Fire AZ, Marshall EL, Merker JD, Maniar JM, Zhang LN, Sahaf B, Jones CD, Simen BB, Hanczaruk B, Nguyen KD, Nadeau KC, Egholm M, Miklos DB, Zehnder JL, Collins AM.

J Immunol. 2010 Jun 15;184(12):6986-92. doi: 10.4049/jimmunol.1000445. Epub 2010 May 21.

42.

Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms.

Oh ST, Simonds EF, Jones C, Hale MB, Goltsev Y, Gibbs KD Jr, Merker JD, Zehnder JL, Nolan GP, Gotlib J.

Blood. 2010 Aug 12;116(6):988-92. doi: 10.1182/blood-2010-02-270108. Epub 2010 Apr 19.

43.

Measurement and clinical monitoring of human lymphocyte clonality by massively parallel VDJ pyrosequencing.

Boyd SD, Marshall EL, Merker JD, Maniar JM, Zhang LN, Sahaf B, Jones CD, Simen BB, Hanczaruk B, Nguyen KD, Nadeau KC, Egholm M, Miklos DB, Zehnder JL, Fire AZ.

Sci Transl Med. 2009 Dec 23;1(12):12ra23.

44.

Design and evaluation of a real-time PCR assay for quantification of JAK2 V617F and wild-type JAK2 transcript levels in the clinical laboratory.

Merker JD, Jones CD, Oh ST, Schrijver I, Gotlib J, Zehnder JL.

J Mol Diagn. 2010 Jan;12(1):58-64. doi: 10.2353/jmoldx.2010.090068. Epub 2009 Dec 3.

45.

Clinical characterization of acute myeloid leukemia with myelodysplasia-related changes as defined by the 2008 WHO classification system.

Weinberg OK, Seetharam M, Ren L, Seo K, Ma L, Merker JD, Gotlib J, Zehnder JL, Arber DA.

Blood. 2009 Feb 26;113(9):1906-8. doi: 10.1182/blood-2008-10-182782. Epub 2009 Jan 8.

PMID:
19131546
46.

The histone methylase Set2p and the histone deacetylase Rpd3p repress meiotic recombination at the HIS4 meiotic recombination hotspot in Saccharomyces cerevisiae.

Merker JD, Dominska M, Greenwell PW, Rinella E, Bouck DC, Shibata Y, Strahl BD, Mieczkowski P, Petes TD.

DNA Repair (Amst). 2008 Aug 2;7(8):1298-308. doi: 10.1016/j.dnarep.2008.04.009. Epub 2008 Jun 2.

47.

Cold agglutinin syndrome in pediatric liver transplant recipients.

Wong W, Merker JD, Nguyen C, Berquist W, Jeng M, Viele M, Glader B, Fontaine MJ.

Pediatr Transplant. 2007 Dec;11(8):931-6.

PMID:
17976131
48.

Molecular diagnostics of non-Hodgkin lymphoma.

Merker JD, Arber DA.

Expert Opin Med Diagn. 2007 Sep;1(1):47-63. doi: 10.1517/17530059.1.1.47.

PMID:
23489268
49.

Diagnosis of a critical respiratory illness caused by human metapneumovirus by use of a pan-virus microarray.

Chiu CY, Alizadeh AA, Rouskin S, Merker JD, Yeh E, Yagi S, Schnurr D, Patterson BK, Ganem D, DeRisi JL.

J Clin Microbiol. 2007 Jul;45(7):2340-3. Epub 2007 May 9.

50.

Microarray detection of human parainfluenzavirus 4 infection associated with respiratory failure in an immunocompetent adult.

Chiu CY, Rouskin S, Koshy A, Urisman A, Fischer K, Yagi S, Schnurr D, Eckburg PB, Tompkins LS, Blackburn BG, Merker JD, Patterson BK, Ganem D, DeRisi JL.

Clin Infect Dis. 2006 Oct 15;43(8):e71-6. Epub 2006 Sep 1.

PMID:
16983602

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