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Leucine increases mitochondrial metabolism and lipid content without altering insulin signaling in myotubes.

Rivera ME, Lyon ES, Johnson MA, Vaughan RA.

Biochimie. 2019 Nov 1. pii: S0300-9084(19)30312-8. doi: 10.1016/j.biochi.2019.10.017. [Epub ahead of print]


Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework.

McGlaughon JL, Pasquali M, Wallace K, Ross J, Senol-Cosar O, Shen W, Weaver MA, Feigenbaum A, Lyon E, Enns GM, Mao R, Baudet HG.

Mol Genet Metab. 2019 Jul 18. pii: S1096-7192(19)30511-6. doi: 10.1016/j.ymgme.2019.07.008. [Epub ahead of print]


Effect of metformin on myotube BCAA catabolism.

Rivera ME, Lyon ES, Vaughan RA.

J Cell Biochem. 2019 Aug 5. doi: 10.1002/jcb.29327. [Epub ahead of print]


Actions of chronic physiological 3-hydroxyisobuterate treatment on mitochondrial metabolism and insulin signaling in myotubes.

Lyon ES, Rivera ME, Johnson MA, Sunderland KL, Vaughan RA.

Nutr Res. 2019 Jun;66:22-31. doi: 10.1016/j.nutres.2019.03.012. Epub 2019 Mar 27.


Postmortem CYP2D6 Genotyping and Copy Number Determinations Using DNA Extracted from Archived FTA Bloodstains.

Melis R, Mohamed J, Ha Y, Lyon E, McMillin G.

J Anal Toxicol. 2019 Jun 1;43(5):411-414. doi: 10.1093/jat/bkz008.


Leucine, Palmitate, or Leucine/Palmitate Cotreatment Enhances Myotube Lipid Content and Oxidative Preference.

Johnson MA, Gannon NP, Schnuck JK, Lyon ES, Sunderland KL, Vaughan RA.

Lipids. 2018 Nov;53(11-12):1043-1057. doi: 10.1002/lipd.12126. Epub 2019 Jan 31.


Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.

Zastrow DB, Baudet H, Shen W, Thomas A, Si Y, Weaver MA, Lager AM, Liu J, Mangels R, Dwight SS, Wright MW, Dobrowolski SF, Eilbeck K, Enns GM, Feigenbaum A, Lichter-Konecki U, Lyon E, Pasquali M, Watson M, Blau N, Steiner RD, Craigen WJ, Mao R; ClinGen Inborn Errors of Metabolism Working Group.

Hum Mutat. 2018 Nov;39(11):1569-1580. doi: 10.1002/humu.23649.


Prisoner health status at three rural Haitian prisons.

LaMonaca K, Desai M, May JP, Lyon E, Altice FL.

Int J Prison Health. 2018 Sep 10;14(3):197-209. doi: 10.1108/IJPH-02-2017-0010.


Clinical pharmacogenomics testing in the era of next generation sequencing: challenges and opportunities for precision medicine.

Ji Y, Si Y, McMillin GA, Lyon E.

Expert Rev Mol Diagn. 2018 May;18(5):411-421. doi: 10.1080/14737159.2018.1461561. Epub 2018 Apr 23. Review.


Accuracy of the ACS NSQIP Online Risk Calculator Depends on How You Look at It: Results from the United States Gastric Cancer Collaborative.

Beal EW, Saunders ND, Kearney JF, Lyon E, Wei L, Squires MH, Jin LX, Worhunsky DJ, Votanopoulos KI, Ejaz A, Poultsides G, Fields RC, Swords D, Acher AW, Weber SM, Maithel SK, Pawlik T, Schmidt CR.

Am Surg. 2018 Mar 1;84(3):358-364.


Response to Biesecker and Harrison.

Richards CS, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG/AMP Interpretation of Sequence Variants Work Group 2015.

Genet Med. 2018 Dec;20(12):1689-1690. doi: 10.1038/gim.2018.43. No abstract available.


Evaluating the American College of Surgeons National Surgical Quality Improvement project risk calculator: results from the U.S. Extrahepatic Biliary Malignancy Consortium.

Beal EW, Lyon E, Kearney J, Wei L, Ethun CG, Black SM, Dillhoff M, Salem A, Weber SM, Tran TB, Poultsides G, Shenoy R, Hatzaras I, Krasnick B, Fields RC, Buttner S, Scoggins CR, Martin RCG, Isom CA, Idrees K, Mogal HD, Shen P, Maithel SK, Pawlik TM, Schmidt CR.

HPB (Oxford). 2017 Dec;19(12):1104-1111. doi: 10.1016/j.hpb.2017.08.009. Epub 2017 Sep 7.


The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care.

Kaul KL, Sabatini LM, Tsongalis GJ, Caliendo AM, Olsen RJ, Ashwood ER, Bale S, Benirschke R, Carlow D, Funke BH, Grody WW, Hayden RT, Hegde M, Lyon E, Murata K, Pessin M, Press RD, Thomson RB.

Acad Pathol. 2017 Jul 16;4:2374289517708309. doi: 10.1177/2374289517708309. eCollection 2017 Jan-Dec.


Validation of a Targeted RNA Sequencing Assay for Kinase Fusion Detection in Solid Tumors.

Reeser JW, Martin D, Miya J, Kautto EA, Lyon E, Zhu E, Wing MR, Smith A, Reeder M, Samorodnitsky E, Parks H, Naik KR, Gozgit J, Nowacki N, Davies KD, Varella-Garcia M, Yu L, Freud AG, Coleman J, Aisner DL, Roychowdhury S.

J Mol Diagn. 2017 Sep;19(5):682-696. doi: 10.1016/j.jmoldx.2017.05.006. Epub 2017 Aug 9.


A Clinicopathologic Evaluation of Incidental Fundic Gland Polyps With Dysplasia: Implications for Clinical Management.

Lloyd IE, Kohlmann WK, Gligorich K, Hall A, Lyon E, Downs-Kelly E, Samowitz WS, Bronner MP.

Am J Gastroenterol. 2017 Jul;112(7):1094-1102. doi: 10.1038/ajg.2017.125. Epub 2017 May 2.


Developing a Human Rights-Based Approach to Tuberculosis.

Citro B, Lyon E, Mankad M, Pandey KR, Gianella C.

Health Hum Rights. 2016 Jun;18(1):1-8. No abstract available.


The Spectrum of Clinical Utilities in Molecular Pathology Testing Procedures for Inherited Conditions and Cancer: A Report of the Association for Molecular Pathology.

Joseph L, Cankovic M, Caughron S, Chandra P, Emmadi R, Hagenkord J, Hallam S, Jewell KE, Klein RD, Pratt VM, Rothberg PG, Temple-Smolkin RL, Lyon E.

J Mol Diagn. 2016 Sep;18(5):605-619. doi: 10.1016/j.jmoldx.2016.05.007. Epub 2016 Aug 16. Review.


Bedaquiline and Pyrazinamide Treatment Responses Are Affected by Pulmonary Lesion Heterogeneity in Mycobacterium tuberculosis Infected C3HeB/FeJ Mice.

Irwin SM, Prideaux B, Lyon ER, Zimmerman MD, Brooks EJ, Schrupp CA, Chen C, Reichlen MJ, Asay BC, Voskuil MI, Nuermberger EL, Andries K, Lyons MA, Dartois V, Lenaerts AJ.

ACS Infect Dis. 2016 Apr 8;2(4):251-267. Epub 2016 Feb 24.


Multigene and Drug Interaction Approach for Tamoxifen Metabolite Patterns Reveals Possible Involvement of CYP2C9, CYP2C19, and ABCB1.

Powers JL, Buys SS, Fletcher D, Melis R, Johnson-Davis KL, Lyon E, Malmberg EM, McMillin GA.

J Clin Pharmacol. 2016 Dec;56(12):1570-1581. doi: 10.1002/jcph.771. Epub 2016 Jun 21.


Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine.

Siryani I, Jama M, Rumman N, Marzouqa H, Kannan M, Lyon E, Hindiyeh M.

PLoS One. 2015 Jul 24;10(7):e0133890. doi: 10.1371/journal.pone.0133890. eCollection 2015.


Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4.

Millson A, Lewis T, Pesaran T, Salvador D, Gillespie K, Gau CL, Pont-Kingdon G, Lyon E, Bayrak-Toydemir P.

J Mol Diagn. 2015 Sep;17(5):576-82. doi: 10.1016/j.jmoldx.2015.05.005. Epub 2015 Jul 10.


Elderly female with a personal and family history of a bleeding disorder.

Desai DS, Lyon E, Rodgers GM, Jama MA, Wallentine SL, Smock KJ.

Clin Chem. 2015 Jul;61(7):909-12. doi: 10.1373/clinchem.2014.227165. No abstract available.


Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E, Jewell BM, Hagopian R, Miya J, Wing MR, Lyon E, Damodaran S, Bhatt D, Reeser JW, Datta J, Roychowdhury S.

Hum Mutat. 2015 Sep;36(9):903-14. doi: 10.1002/humu.22825. Epub 2015 Jul 15.


Host-Mediated Bioactivation of Pyrazinamide: Implications for Efficacy, Resistance, and Therapeutic Alternatives.

Via LE, Savic R, Weiner DM, Zimmerman MD, Prideaux B, Irwin SM, Lyon E, O'Brien P, Gopal P, Eum S, Lee M, Lanoix JP, Dutta NK, Shim T, Cho JS, Kim W, Karakousis PC, Lenaerts A, Nuermberger E, Barry CE 3rd, Dartois V.

ACS Infect Dis. 2015 May 8;1(5):203-214.


The Evolving Role of the Laboratory Professional in the Age of Genome Sequencing: A Vision of the Association for Molecular Pathology.

Schrijver I, Farkas DH, Gibson JS, Lyon E; AMP Executive Committee.

J Mol Diagn. 2015 Jul;17(4):335-8. doi: 10.1016/j.jmoldx.2015.03.001. Epub 2015 Jun 2.


Presence of multiple lesion types with vastly different microenvironments in C3HeB/FeJ mice following aerosol infection with Mycobacterium tuberculosis.

Irwin SM, Driver E, Lyon E, Schrupp C, Ryan G, Gonzalez-Juarrero M, Basaraba RJ, Nuermberger EL, Lenaerts AJ.

Dis Model Mech. 2015 Jun;8(6):591-602. doi: 10.1242/dmm.019570. Epub 2015 Mar 30.


Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.


Next generation sequencing in clinical diagnostics: experiences of early adopters.

Lyon E, Cockerill FR 3rd, Bale SJ, Beadling C, Bry L, Hagenkord J, Kulkarni S, Press R, Palomaki GE.

Clin Chem. 2015 Jan;61(1):41-9. doi: 10.1373/clinchem.2014.222687. Epub 2014 Nov 24. No abstract available.


Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys.

Lyon E, Schrijver I, Weck KE, Ferreira-Gonzalez A, Richards CS, Palomaki GE; CAP/ACMG Biochemical and Molecular Genetics Committee.

Genet Med. 2015 Mar;17(3):219-25. doi: 10.1038/gim.2014.93. Epub 2014 Jul 31.


Noncontinuously binding loop-out primers for avoiding problematic DNA sequences in PCR and sanger sequencing.

Sumner K, Swensen JJ, Procter M, Jama M, Wooderchak-Donahue W, Lewis T, Fong M, Hubley L, Schwarz M, Ha Y, Paul E, Brulotte B, Lyon E, Bayrak-Toydemir P, Mao R, Pont-Kingdon G, Best DH.

J Mol Diagn. 2014 Sep;16(5):477-480. doi: 10.1016/j.jmoldx.2014.04.005. Epub 2014 Jul 9.


Translation of incremental talk test responses to steady-state exercise training intensity.

Lyon E, Menke M, Foster C, Porcari JP, Gibson M, Bubbers T.

J Cardiopulm Rehabil Prev. 2014 Jul-Aug;34(4):271-5. doi: 10.1097/HCR.0000000000000069.


Response to errors and misrepresentations in "Breaking barriers: addressing structural obstacles to social service provision to Asian survivors of domestic violence" by Mihan Lee.

Lyon E, Sullivan CM.

Violence Against Women. 2014 Dec;20(12):1532-8. doi: 10.1177/1077801214535108. Epub 2014 May 18. No abstract available.


An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM.

Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53.


Characterizing genetic variants for clinical action.

Ramos EM, Din-Lovinescu C, Berg JS, Brooks LD, Duncanson A, Dunn M, Good P, Hubbard TJ, Jarvik GP, O'Donnell C, Sherry ST, Aronson N, Biesecker LG, Blumberg B, Calonge N, Colhoun HM, Epstein RS, Flicek P, Gordon ES, Green ED, Green RC, Hurles M, Kawamoto K, Knaus W, Ledbetter DH, Levy HP, Lyon E, Maglott D, McLeod HL, Rahman N, Randhawa G, Wicklund C, Manolio TA, Chisholm RL, Williams MS.

Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):93-104. doi: 10.1002/ajmg.c.31386. Epub 2014 Mar 13.


Results of the College of American Pathology/American College of Medical Genetics and Genomics external proficiency testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish population.

Feldman GL, Schrijver I, Lyon E, Palomaki GE; CAP/ACMG Biochemical and Molecular Genetics Resource Committee.

Genet Med. 2014 Sep;16(9):695-702. doi: 10.1038/gim.2014.14. Epub 2014 Feb 27.


Revisiting oversight and regulation of molecular-based laboratory-developed tests: a position statement of the Association for Molecular Pathology.

Ferreira-Gonzalez A, Emmadi R, Day SP, Klees RF, Leib JR, Lyon E, Nowak JA, Pratt VM, Williams MS, Klein RD.

J Mol Diagn. 2014 Jan;16(1):3-6. doi: 10.1016/j.jmoldx.2013.10.003.


ACMG clinical laboratory standards for next-generation sequencing.

Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E; Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Commitee.

Genet Med. 2013 Sep;15(9):733-47. doi: 10.1038/gim.2013.92. Epub 2013 Jul 25.


ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.

Monaghan KG, Lyon E, Spector EB; erican College of Medical Genetics and Genomics.

Genet Med. 2013 Jul;15(7):575-86. doi: 10.1038/gim.2013.61. Epub 2013 Jun 13.


Probiotics, prebiotics and immunomodulation of gut mucosal defences: homeostasis and immunopathology.

Hardy H, Harris J, Lyon E, Beal J, Foey AD.

Nutrients. 2013 May 29;5(6):1869-912. doi: 10.3390/nu5061869. Review.


Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders.

Richards CS, Palomaki GE, Lacbawan FL, Lyon E, Feldman GL; CAP/ACMG Biochemical and Molecular Genetics Resource Committee.

Genet Med. 2014 Jan;16(1):25-32. doi: 10.1038/gim.2013.65. Epub 2013 May 23.


Triplet repeat primed PCR simplifies testing for Huntington disease.

Jama M, Millson A, Miller CE, Lyon E.

J Mol Diagn. 2013 Mar;15(2):255-62. doi: 10.1016/j.jmoldx.2012.09.005. Epub 2013 Feb 13.


Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period.

Ridge PG, Miller C, Bayrak-Toydemir P, Best DH, Mao R, Swensen JJ, Lyon E, Voelkerding KV.

J Clin Bioinforma. 2013 Jan 23;3(1):3. doi: 10.1186/2043-9113-3-3.


Diagnostic utility of microsatellite genotyping for molar pregnancy testing.

Furtado LV, Paxton CN, Jama MA, Tripp SR, Wilson AR, Lyon E, Jarboe EA, Thaker HM, Geiersbach KB.

Arch Pathol Lab Med. 2013 Jan;137(1):55-63. doi: 10.5858/arpa.2012-0047-OA.


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.


Capillary electrophoresis for the detection of Fragile X expanded alleles.

Mao R, Bayrak-Toydemir P, Lyon E.

Methods Mol Biol. 2013;919:275-85. doi: 10.1007/978-1-62703-029-8_24.


Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy.

Lyon E, Gastier Foster J, Palomaki GE, Pratt VM, Reynolds K, Sábato MF, Scott SA, Vitazka P; working group of the Molecular Genetics Subcommittee on behalf of the American College of Medical Genetics and Genomics ACMG) Laboratory Quality Assurance Committee.

Genet Med. 2012 Dec;14(12):990-1000. doi: 10.1038/gim.2012.108. Epub 2012 Sep 6. Review.


Copy number variation and incomplete linkage disequilibrium interfere with the HCP5 genotyping assay for abacavir hypersensitivity.

Melis R, Lewis T, Millson A, Lyon E, McMillin GA, Slev PR, Swensen J.

Genet Test Mol Biomarkers. 2012 Sep;16(9):1111-4. doi: 10.1089/gtmb.2012.0115. Epub 2012 Aug 22.


Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening.

Anderson S, Botti C, Li B, Millonig JH, Lyon E, Millson A, Karabin SS, Brooks SS.

Am J Med Genet A. 2012 Sep;158A(9):2100-5. doi: 10.1002/ajmg.a.35448. Epub 2012 Jul 27.


Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.

Crockett DK, Ridge PG, Wilson AR, Lyon E, Williams MS, Narus SP, Facelli JC, Mitchell JA.

Genome Med. 2012 May 28;4(5):48. doi: 10.1186/gm347.


Aneuploidy detection in paraffin embedded tissue from products of conception by mini-STR genotyping.

Furtado LV, Jama MA, Paxton CN, Wilson AA, Gardiner AE, Lyon E, Geiersbach KB.

Fetal Pediatr Pathol. 2013 Apr;32(2):133-50. doi: 10.3109/15513815.2012.681428. Epub 2012 May 18.


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