Publications

1. Cyrus SS, Kluge ML, Marcou CA, Thorland EC, Iyer VN, Baudhuin LM. Mosaic Copy Number Variation in a Patient with Cerebral and Pulmonary Arteriovenous Malformations and Recurrent Epistaxis. Clin Chem. 2024 Nov 4; 70 (11):1315-1319
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2. Shen W, Sellers HL, Choate LA, Stein MI, Tandale PP, Tan J, Setlem R, Sakai Y, Fadra N, Sosa C, McClelland SP, Barnett SS, Rasmussen KJ, Runke CK, Smoley SA, Tillmans LS, Marcou CA, Rowsey RA, Thorland EC, Boczek NJ, Kearney HM. Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders. J Mol Diagn. 2023 Jul; 25(7):524-531. Epub 2023 Apr 23.
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3. Raca G, Astbury C, Behlmann A, De Castro MJ, Hickey SE, Karaca E, Lowther C, Riggs ER, Seifert BA, Thorland EC, Deignan JL, ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net. Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 Feb; 25 (2):100316 Epub 2022 Dec 12
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4. Chompoopong P, Niu Z, Shouman K, Madigan NN, Sandroni P, Berini SE, Shin AY, Brault JS, Boon AJ, Laughlin RS, Thorland E, Mandrekar J, Klein CJ. Utility of Carpal Tunnel Release and Ulnar Decompression in CMT1A and HNPP. Muscle Nerve. 2022 Oct; 66 (4):479-486 Epub 2022 Aug 11
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5. Gagnon MF, Berg HE, Meyer RG, Sukov WR, Van Dyke DL, Jenkins RB, Greipp PT, Thorland EC, Hoppman NL, Xu X, Baughn LB, Reichard KK, Ketterling RP, Peterson JF. Typical, atypical and cryptic t(15;17)(q24;q21) (PML::RARA) observed in acute promyelocytic leukemia: A retrospective review of 831 patients with concurrent chromosome and PML::RARA dual-color dual-fusion FISH studies. Genes Chromosomes Cancer. 2022 Oct; 61 (10):629-634 Epub 2022 June 10
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6. Thaxton C, Good ME, DiStefano MT, Luo X, Andersen EF, Thorland E, Berg J, Martin CL, Rehm HL, Riggs ER, ClinGen Gene Curation Working Group//ClinGen Dosage Sensitivity Working Group. Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification. Hum Mutat. 2022 Aug; 43 (8):1031-1040 Epub 2021 Nov 15
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7. Gonzales PR, Andersen EF, Brown TR, Horner VL, Horwitz J, Rehder CW, Rudy NL, Robin NH, Thorland EC. Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2022 Feb; 24 (2):255-261 Epub 2021 Dec 03
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8. Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL. Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2021 Nov; 23 (11):2230
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9. Palmer EE, Carroll R, Shaw M, Kumar R, Minoche AE, Leffler M, Murray L, Macintosh R, Wright D, Troedson C, McKenzie F, Townshend S, Ward M, Nawaz U, Ravine A, Runke CK, Thorland EC, Hummel M, Foulds N, Pichon O, Isidor B, Le Caignec C, Demeer B, Andrieux J, Albarazi SH, Bye A, Sachdev R, Kirk EP, Cowley MJ, Field M, Gecz J. RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features. Am J Hum Genet. 2020 Dec 3; 107 (6):1157-1169 Epub 2020 Nov 06
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10. Marcou CA, Pitel B, Hagen CE, Boczek NJ, Rowsey RA, Baughn LB, Hoppman NL, Thorland EC, Kearney HM. Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic. Genet Med. 2020 Dec; 22 (12):2120-2124 Epub 2020 Aug 21
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11. Tester DJ, Bombei HM, Fitzgerald KK, Giudicessi JR, Pitel BA, Thorland EC, Russell BG, Hamrick SK, Kim CSJ, Haglund-Turnquist CM, Johnsrude CL, Atkins DL, Ochoa Nunez LA, Law I, Temple J, Ackerman MJ. Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community. JAMA Cardiol. 2020 Mar 01; 5(3):13-18.
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12. Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb; 22 (2):245-257 Epub 2019 Nov 06
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13. Oliver GR, Blackburn PR, Ellingson MS, Conboy E, Pinto E Vairo F, Webley M, Thorland E, Ferber M, Van Hul E, van der Werf IM, Wuyts W, Babovic-Vuksanovic D, Klee EW. RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas. Mol Genet Genomic Med. 2019 Mar; 7 (3):e00560 Epub 2019 Jan 10
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14. Aypar U, Smoley SA, Pitel BA, Pearce KE, Zenka RM, Vasmatzis G, Johnson SH, Smadbeck JB, Peterson JF, Geiersbach KB, Van Dyke DL, Thorland EC, Jenkins RB, Ketterling RP, Greipp PT, Kearney HM, Hoppman NL, Baughn LB. Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia. Eur J Haematol. 2019 Jan; 102 (1):87-96 Epub 2018 Nov 22
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15. Boczek NJ, Lahner CA, Nguyen TM, Ferber MJ, Hasadsri L, Thorland EC, Niu Z, Gavrilova RH. Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2). Am J Med Genet A. 2018 Dec; 176(12):2798-2802. Epub 2018 Oct 22.
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16. Carter JM, Wu Y, Blessing MM, Folpe AL, Thorland EC, Spinner RJ, Jentoft ME, Wang C, Baheti S, Niu Z, Mauermann ML, Klein CJ. Recurrent Genomic Alterations in Soft Tissue Perineuriomas. Am J Surg Pathol. 2018 Dec; 42 (12):1708-1714
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17. Hoppman N, Rumilla K, Lauer E, Kearney H, Thorland E. Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays. Genet Med. 2018 Dec; 20 (12):1522-1527 Epub 2018 Mar 22
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18. Riggs ER, Nelson T, Merz A, Ackley T, Bunke B, Collins CD, Collinson MN, Fan YS, Goodenberger ML, Golden DM, Haglund-Hazy L, Krgovic D, Lamb AN, Lewis Z, Li G, Liu Y, Meck J, Neufeld-Kaiser W, Runke CK, Sanmann JN, Stavropoulos DJ, Strong E, Su M, Tayeh MK, Kokalj Vokac N, Thorland EC, Andersen E, Martin CL. Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar. Hum Mutat. 2018 Nov; 39(11):1650-1659.
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19. Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Bruggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017 Jan; 49 (1):36-45 Epub 2016 Nov 14
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20. Uddin M, Pellecchia G, Thiruvahindrapuram B, D'Abate L, Merico D, Chan A, Zarrei M, Tammimies K, Walker S, Gazzellone MJ, Nalpathamkalam T, Yuen RK, Devriendt K, Mathonnet G, Lemyre E, Nizard S, Shago M, Joseph-George AM, Noor A, Carter MT, Yoon G, Kannu P, Tihy F, Thorland EC, Marshall CR, Buchanan JA, Speevak M, Stavropoulos DJ, Scherer SW. Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay. Sci Rep. 2016 Jul 1; 6:28663 Epub 2016 July 01
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21. Wang W, Wang C, Dawson DB, Thorland EC, Lundquist PA, Eckloff BW, Wu Y, Baheti S, Evans JM, Scherer SS, Dyck PJ, Klein CJ. Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy. Neurology. 2016 May 10; 86 (19):1762-71 Epub 2016 Apr 13
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22. Pfundt R, Kwiatkowski K, Roter A, Shukla A, Thorland E, Hockett R, DuPont B, Fung ET, Chaubey A. Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability. Genet Med. 2016 Feb; 18 (2):168-73 Epub 2015 Apr 16
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23. Aypar U, Hoppman NL, Thorland EC, Dawson DB. Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features. Mol Cytogenet. 2016; 9:26 Epub 2016 Mar 22
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24. Cuturilo G, Hodge JC, Runke CK, Thorland EC, Al-Owain MA, Ellison JW, Babovic-Vuksanovic D. Phenotype analysis impacts testing strategy in patients with Currarino syndrome. Clin Genet. 2016 Jan; 89(1):109-14. Epub 2015 Mar 15.
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25. Lyon SM, Waggoner D, Halbach S, Thorland EC, Khorasani L, Reid RR. Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2 Genes & Diseases.2015 Dec;2:(4):347-52.
    
26. Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS, ClinGen. ClinGen--the Clinical Genome Resource. N Engl J Med. 2015 Jun 04; 372(23):2235-42. Epub 2015 May 27.
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27. Aypar U, Brodersen PR, Lundquist PA, Dawson DB, Thorland EC, Hoppman N. Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region. Am J Med Genet A. 2014 Oct; 164A (10):2514-20 Epub 2014 June 26
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28. Dhamija R, Graham JM Jr, Smaoui N, Thorland E, Kirmani S. Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum. Eur J Med Genet. 2014 Mar; 57(4):181-4. Epub 2014 Feb 27.
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29. Riggs ER, Wain KE, Riethmaier D, Smith-Packard B, Faucett WA, Hoppman N, Thorland EC, Patel VC, Miller DT. Chromosomal microarray impacts clinical management. Clin Genet. 2014 Feb; 85(2):147-53.
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30. Aypar U, Thorland EC, Hoppman N, Hoppman N. Prenatal diagnosis of chromosome abnormalities: past, present, and future. Clin Chem. 2013 Oct; 59 (10):1432-4 Epub 2013 July 15
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31. Goldlust IS, Hermetz KE, Catalano LM, Barfield RT, Cozad R, Wynn G, Ozdemir AC, Conneely KN, Mulle JG, Dharamrup S, Hegde MR, Kim KH, Angle B, Colley A, Webb AE, Thorland EC, Ellison JW, Rosenfeld JA, Ballif BC, Shaffer LG, Demmer LA, Unique Rare Chromosome Disorder Support Group, Rudd MK. Mouse model implicates GNB3 duplication in a childhood obesity syndrome. Proc Natl Acad Sci U S A. 2013 Sep 10; 110(37):14990-4. Epub 2013 Aug 26
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32. Banck MS, Kanwar R, Kulkarni AA, Boora GK, Metge F, Kipp BR, Zhang L, Thorland EC, Minn KT, Tentu R, Eckloff BW, Wieben ED, Wu Y, Cunningham JM, Nagorney DM, Gilbert JA, Ames MM, Beutler AS. The genomic landscape of small intestine neuroendocrine tumors. J Clin Invest. 2013 Jun; 123 (6):2502-8 Epub 2013 May 15
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33. McDonnell SK, Riska SM, Klee EW, Thorland EC, Kay NE, Thibodeau SN, Parker AS, Eckel-Passow JE. Experimental designs for array comparative genomic hybridization technology. Cytogenet Genome Res. 2013; 139 (4):250-7 Epub 2013 Mar 27
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34. Riggs ER, Church DM, Hanson K, Horner VL, Kaminsky EB, Kuhn RM, Wain KE, Williams ES, Aradhya S, Kearney HM, Ledbetter DH, South ST, Thorland EC, Martin CL. Towards an evidence-based process for the clinical interpretation of copy number variation. Clin Genet. 2012 May; 81: (5)403-12.
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35. Descipio C, Conlin L, Rosenfeld J, Tepperberg J, Pasion R, Patel A, McDonald MT, Aradhya S, Ho D, Goldstein J, McGuire M, Mulchandani S, Medne L, Rupps R, Serrano AH, Thorland EC, Tsai ACH, Hilhorst-Hofstee Y, Ruivenkamp CA, Van Esch H, Addor MC, Martinet D, Mason TB, Clark D, Spinner NB, Krantz ID. Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization. Am J Med Genet A. 2012; 158 A(9):2152-61.
    
36. Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, Shetty S, Rossi MR, Rudd MK, South ST, Brothman AR, Sanger WG, Iyer RK, Crolla JA, Thorland EC, Aradhya S, Ledbetter DH, Martin CL. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med. 2011 Sep; 13(9):777-84.
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37. Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST, Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med. 2011 Jul; 13: (7)680-5.
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38. Shearer BM, Thorland EC, Carlson AW, Jalal SM, Ketterling RP. Reflex fluorescent in situ hybridization testing for unsuccessful product of conception cultures: a retrospective analysis of 5555 samples attempted by conventional cytogenetics and fluorescent in situ hybridization. Genet Med. 2011 Jun; 13 (6):545-52
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39. Moreno-De-Luca D, SGENE Consortium, Mulle JG, Simons Simplex Collection Genetics Consortium, Kaminsky EB, Sanders SJ, GeneSTAR, Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet. 2010 Nov 12; 87(5):618-30. Epub 2010 Nov 04.
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40. Babovic N, Simmons PS, Moir C, Thorland EC, Scheithauer B, Gliem TJ, Babovic-Vuksanovic D. Mucinous cystadenoma of ovary in a patient with juvenile polyposis due to 10q23 microdeletion: expansion of phenotype. Am J Med Genet A. 2010 Oct; 152A (10):2623-7
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41. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010 May 14; 86(5):749-64.
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42. Hummel JM, Thorland EC, Lim MS. Hodgkin lymphoma in a young child contributing to a diagnosis of ataxia telangiectasia: Review of the literature. Journal of Hematopathology. 2010; 3(2):69-76.
    
43. Tsuchiya KD, Shaffer LG, Aradhya S, Gastier-Foster JM, Patel A, Rudd MK, Biggerstaff JS, Sanger WG, Schwartz S, Tepperberg JH, Thorland EC, Torchia BA, Brothman AR. Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories. Genet Med. 2009 Dec; 11(12):866-73.
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44. Lagouros E, Salomao D, Thorland E, Hodge DO, Vile R, Pulido JS. Infiltrative T regulatory cells in enucleated uveal melanomas. Trans Am Ophthalmol Soc. 2009 Dec; 107:223-8
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45. Dewald GW, Smyrk TC, Thorland EC, McWilliams RR, Van Dyke DL, Keefe JG, Belongie KJ, Smoley SA, Knutson DL, Fink SR, Wiktor AE, Petersen GM. Fluorescence in situ hybridization to visualize genetic abnormalities in interphase cells of acinar cell carcinoma, ductal adenocarcinoma, and islet cell carcinoma of the pancreas. Mayo Clin Proc. 2009 Sep; 84 (9):801-10
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46. Mefford HC, Cooper GM, Zerr T, Smith JD, Baker C, Shafer N, Thorland EC, Skinner C, Schwartz CE, Nickerson DA, Eichler EE. A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res. 2009 Sep; 19(9):1579-85. Epub 2009 Jun 08.
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47. Tefferi A, Sirhan S, Sun Y, Lasho T, Finke CM, Weisberger J, Bale S, Compton J, LeDuc CA, Pardanani A, Thorland EC, Shevchenko Y, Grodman M, Chung WK. Oligonucleotide array CGH studies in myeloproliferative neoplasms: comparison with JAK2V617F mutational status and conventional chromosome analysis. Leuk Res. 2009 May; 33(5):662-4. Epub 2008 Oct 19.
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48. Feldman AL, Law M, Grogg KL, Thorland EC, Fink S, Kurtin PJ, Macon WR, Remstein ED, Dogan A. Incidence of TCR and TCL1 gene translocations and isochromosome 7q in peripheral T-cell lymphomas using fluorescence in situ hybridization. Am J Clin Pathol. 2008 Aug; 130 (2):178-85
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49. Sekulic A, Haluska P Jr, Miller AJ, Genebriera De Lamo J, Ejadi S, Pulido JS, Salomao DR, Thorland EC, Vile RG, Swanson DL, Pockaj BA, Laman SD, Pittelkow MR, Markovic SN, Melanoma Study Group of Mayo Clinic Cancer Center. Malignant melanoma in the 21st century: the emerging molecular landscape. Mayo Clin Proc. 2008 Jul; 83 (7):825-46
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50. Feldman AL, Sun DX, Law ME, Novak AJ, Attygalle AD, Thorland EC, Fink SR, Vrana JA, Caron BL, Morice WG, Remstein ED, Grogg KL, Kurtin PJ, Macon WR, Dogan A. Overexpression of Syk tyrosine kinase in peripheral T-cell lymphomas. Leukemia. 2008 Jun; 22 (6):1139-43 Epub 2008 Apr 10
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51. Shearer BM, Thorland EC, Gonzales PR, Ketterling RP. Evaluation of a commercially available focused aCGH platform for the detection of constitutional chromosome anomalies. Am J Med Genet A. 2007 Oct 15; 143A (20):2357-70
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52. Thorland EC, Gonzales PR, Gliem TJ, Wiktor AE, Ketterling RP. Comprehensive validation of array comparative genomic hybridization platforms: how much is enough? Genet Med. 2007 Sep; 9 (9):632-41
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53. Klein RD, Thorland EC, Gonzales PR, Beck PA, Dykas DJ, McGrath JM, Bale AE. A multiplex assay for the detection and mapping of complex glycerol kinase deficiency. Clin Chem. 2006 Oct; 52 (10):1864-70 Epub 2006 Aug 03
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54. Zou YS, Van Dyke DL, Thorland EC, Chhabra HS, Michels VV, Keefe JG, Lega MA, Feely MA, Uphoff TS, Jalal SM. Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review. Am J Med Genet A. 2006 Aug 01; 140(15):1696-706.
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55. Fink SR, Smoley SA, Stockero KJ, Paternoster SF, Thorland EC, Van Dyke DL, Shanafelt TD, Zent CS, Call TG, Kay NE, Dewald GW. Loss of TP53 is due to rearrangements involving chromosome region 17p10 approximately p12 in chronic lymphocytic leukemia. Cancer Genet Cytogenet. 2006 Jun; 167(2):177-81.
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56. Eklund EA, Sun L, Yang SP, Pasion RM, Thorland EC, Freeze HH. Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation. Biochem Biophys Res Commun. 2006 Jan 20; 339 (3):755-60
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57. Wiktor AE, Van Dyke DL, Stupca PJ, Ketterling RP, Thorland EC, Shearer BM, Fink SR, Stockero KJ, Majorowicz JR, Dewald GW. Preclinical validation of fluorescence in situ hybridization assays for clinical practice. Genet Med. 2006 Jan; 8 (1):16-23
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58. Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB, Thorland EC, Lorentz CP, Goldstein JL, McDonald MT, Smith WE, Simon-Fayard E, Alexander AA, Kulharya AS, Ketterling RP, Clark RD, Jalal SM. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet. 2003 Nov; 73 (5):1027-40 Epub 2003 Oct 02
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59. Ferber MJ, Thorland EC, Brink AA, Rapp AK, Phillips LA, McGovern R, Gostout BS, Cheung TH, Chung TK, Fu WY, Smith DI. Preferential integration of human papillomavirus type 18 near the c-myc locus in cervical carcinoma. Oncogene. 2003 Oct 16; 22 (46):7233-42
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60. Ferber MJ, Montoya DP, Yu C, Aderca I, McGee A, Thorland EC, Nagorney DM, Gostout BS, Burgart LJ, Boix L, Bruix J, McMahon BJ, Cheung TH, Chung TK, Wong YF, Smith DI, Roberts LR. Integrations of the hepatitis B virus (HBV) and human papillomavirus (HPV) into the human telomerase reverse transcriptase (hTERT) gene in liver and cervical cancers. Oncogene. 2003 Jun 12; 22(24):3813-20.
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61. Thorland EC, Myers SL, Gostout BS, Smith DI. Common fragile sites are preferential targets for HPV16 integrations in cervical tumors. Oncogene. 2003 Feb 27; 22(8):1225-37.
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62. Becker NA, Thorland EC, Denison SR, Phillips LA, Smith DI. Evidence that instability within the FRA3B region extends four megabases. Oncogene. 2002 Dec 12; 21(57):8713-22.
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63. Morelli C, Karayianni E, Magnanini C, Mungall AJ, Thorland E, Negrini M, Smith DI, Barbanti-Brodano G. Cloning and characterization of the common fragile site FRA6F harboring a replicative senescence gene and frequently deleted in human tumors. Oncogene. 2002 Oct 17; 21(47):7266-76.
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64. Thorland EC, Myers SL, Persing DH, Sarkar G, McGovern RM, Gostout BS, Smith DI. Human papillomavirus type 16 integrations in cervical tumors frequently occur in common fragile sites. Cancer Res. 2000 Nov 1; 60(21):5916-21.
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65. Liu JZ, Li X, Drost J, Thorland EC, Liu Q, Lind T, Roberts S, Wang HY, Sommer SS. The human factor IX gene as germline mutagen test: samples from Mainland China have the putatively endogenous pattern of mutation. Hum Mutat. 2000; 16(1):31-6.
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66. Thorland EC, Drost JB, Lusher JM, Warrier I, Shapiro A, Koerper MA, Dimichele D, Westman J, Key NS, Sommer SS. Anaphylactic response to factor IX replacement therapy in haemophilia B patients: complete gene deletions confer the highest risk. Haemophilia. 1999 Mar; 5(2):101-5.
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67. Heit JA, Thorland EC, Ketterling RP, Lind TJ, Daniels TM, Zapata RE, Ordonez SM, Kasper CK, Sommer SS. Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern. Hum Mutat. 1998; 11 (5):372-6
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68. Liu Q, Thorland EC, Heit JA, Sommer SS. Overlapping PCR for bidirectional PCR amplification of specific alleles: a rapid one-tube method for simultaneously differentiating homozygotes and heterozygotes. Genome Res. 1997 Apr; 7 (4):389-98
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69. Liu Q, Thorland EC, Sommer SS. Inhibition of PCR amplification by a point mutation downstream of a primer. Biotechniques 1997 Feb; 22 (2):292-4, 296, 298, passim
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70. Lind T, Thorland EC, Sommer SS. Genomic amplification with transcript sequencing (GAWTS). Methods Mol Biol. 1996; 65:193-200.
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71. Thorland EC, Weinshenker BG, Liu JZ, Ketterling RP, Vielhaber EL, Kasper CK, Ambriz R, Paredes R, Sommer SS. Molecular epidemiology of factor IX germline mutations in Mexican Hispanics: pattern of mutation and potential founder effects. Thromb Haemost. 1995 Dec; 74 (6):1416-22
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72. Ketterling RP, Vielhaber EL, Lind TJ, Thorland EC, Sommer SS. The rates and patterns of deletions in the human factor IX gene. Am J Hum Genet. 1994 Feb; 54 (2):201-13
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