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dc.contributor.authorMcHugh, David M S
dc.contributor.authorCameron, Cynthia A
dc.contributor.authorAbdenur, Jose E
dc.contributor.authorAbdulrahman, Mahera
dc.contributor.authorAdair, Ona
dc.contributor.authorAl Nuaimi, Shahira Ahmed
dc.contributor.authorÅhlman, Henrik
dc.contributor.authorAllen, Jennifer J
dc.contributor.authorAntonozzi, Italo
dc.contributor.authorArcher, Shaina
dc.contributor.authorAu, Sylvia
dc.contributor.authorAuray-Blais, Christiane
dc.contributor.authorBaker, Mei
dc.contributor.authorBamforth, Fiona
dc.contributor.authorBeckmann, Kinga
dc.contributor.authorPino, Gessi Bentz
dc.contributor.authorBerberich, Stanton L
dc.contributor.authorBinard, Robert
dc.contributor.authorBoemer, François
dc.contributor.authorBonham, Jim
dc.contributor.authorBreen, Nancy N
dc.contributor.authorBryant, Sandra C
dc.contributor.authorCaggana, Michele
dc.contributor.authorCaldwell, S Graham
dc.contributor.authorCamilot, Marta
dc.contributor.authorCampbell, Carlene
dc.contributor.authorCarducci, Claudia
dc.contributor.authorBryant, Sandra C
dc.contributor.authorCaggana, Michele
dc.contributor.authorCaldwell, S Graham
dc.contributor.authorCamilot, Marta
dc.contributor.authorCampbell, Carlene
dc.contributor.authorCarducci, Claudia
dc.contributor.authorCariappa, Rohit
dc.contributor.authorCarlisle, Clover
dc.contributor.authorCaruso, Ubaldo
dc.contributor.authorCassanello, Michela
dc.contributor.authorCastilla, Ane Miren
dc.contributor.authorRamos, Daisy E Castiñeiras
dc.contributor.authorChakraborty, Pranesh
dc.contributor.authorChandrasekar, Ram
dc.contributor.authorRamos, Alfredo Chardon
dc.contributor.authorCheillan, David
dc.contributor.authorChien, Yin-Hsiu
dc.contributor.authorChilds, Thomas A
dc.contributor.authorChrastina, Petr
dc.contributor.authorSica, Yuri Cleverthon
dc.contributor.authorde Juan, Jose Angel Cocho
dc.contributor.authorColandre, Maria Elena
dc.contributor.authorEspinoza, Veronica Cornejo
dc.contributor.authorCorso, Gaetano
dc.contributor.authorCurrier, Robert
dc.contributor.authorCyr, Denis
dc.contributor.authorCzuczy, Noemi
dc.contributor.authorD'Apolito, Oceania
dc.contributor.authorDavis, Tim
dc.contributor.authorde Sain-Van der Velden, Monique G
dc.contributor.authorDelgado Pecellin, Carmen
dc.contributor.authorDi Gangi, Iole Maria
dc.contributor.authorDi Stefano, Cristina Maria
dc.contributor.authorDotsikas, Yannis
dc.contributor.authorDowning, Melanie
dc.contributor.authorDowns, Stephen M
dc.contributor.authorDy, Bonifacio
dc.contributor.authorDymerski, Mark
dc.contributor.authorRueda, Inmaculada
dc.contributor.authorElvers, Bert
dc.contributor.authorEaton, Roger
dc.contributor.authorEckerd, Barbara M
dc.contributor.authorEl Mougy, Fatma
dc.contributor.authorEroh, Sarah
dc.contributor.authorEspada, Mercedes
dc.contributor.authorEvans, Catherine
dc.contributor.authorFawbush, Sandy
dc.contributor.authorFijolek, Kristel F
dc.contributor.authorFisher, Lawrence
dc.contributor.authorFranzson, Leifur
dc.contributor.authorFrazier, Dianne M
dc.contributor.authorGarcia, Luciana R C
dc.contributor.authorBermejo, Maria Sierra García-Valdecasas
dc.contributor.authorGavrilov, Dimitar
dc.contributor.authorGerace, Rosemarie
dc.contributor.authorGiordano, Giuseppe
dc.contributor.authorIrazabal, Yolanda González
dc.contributor.authorGreed, Lawrence C
dc.contributor.authorGrier, Robert
dc.contributor.authorGrycki, Elyse
dc.contributor.authorGu, Xuefan
dc.contributor.authorGulamali-Majid, Fizza
dc.contributor.authorHagar, Arthur F
dc.contributor.authorHan, Lianshu
dc.contributor.authorHannon, W Harry
dc.contributor.authorHaslip, Christa
dc.contributor.authorHassan, Fayza Abdelhamid
dc.contributor.authorHe, Miao
dc.contributor.authorHietala, Amy
dc.contributor.authorHimstedt, Leslie
dc.contributor.authorHoffman, Gary L
dc.contributor.authorHoffman, William
dc.contributor.authorHoggatt, Philis
dc.contributor.authorHopkins, Patrick V
dc.contributor.authorHougaard, David M
dc.contributor.authorHughes, Kerie
dc.contributor.authorHunt, Patricia R
dc.contributor.authorHwu, Wuh-Liang
dc.contributor.authorHynes, June
dc.contributor.authorIbarra-González, Isabel
dc.contributor.authorIngham, Cindy A
dc.contributor.authorIvanova, Maria
dc.contributor.authorJacox, Ward B
dc.contributor.authorJohn, Catharine
dc.contributor.authorJohnson, John P
dc.contributor.authorJónsson, Jón J
dc.contributor.authorKarg, Eszter
dc.contributor.authorKasper, David
dc.contributor.authorKlopper, Brenda
dc.contributor.authorKatakouzinos, Dimitris
dc.contributor.authorKhneisser, Issam
dc.contributor.authorKnoll, Detlef
dc.contributor.authorKobayashi, Hirinori
dc.contributor.authorKoneski, Ronald
dc.contributor.authorKozich, Viktor
dc.contributor.authorKouapei, Rasoul
dc.contributor.authorKohlmueller, Dirk
dc.contributor.authorKremensky, Ivo
dc.contributor.authorla Marca, Giancarlo
dc.contributor.authorLavochkin, Marcia
dc.contributor.authorLee, Soo-Youn
dc.contributor.authorLehotay, Denis C
dc.contributor.authorLemes, Aida
dc.contributor.authorLepage, Joyce
dc.contributor.authorLesko, Barbara
dc.contributor.authorLewis, Barry
dc.contributor.authorLim, Carol
dc.contributor.authorLinard, Sharon
dc.contributor.authorLindner, Martin
dc.contributor.authorLloyd-Puryear, Michele A
dc.contributor.authorLorey, Fred
dc.contributor.authorLoukas, Yannis L
dc.contributor.authorLuedtke, Julie
dc.contributor.authorMaffitt, Neil
dc.contributor.authorMagee, J Fergall
dc.contributor.authorManning, Adrienne
dc.contributor.authorManos, Shawn
dc.contributor.authorMarie, Sandrine
dc.contributor.authorHadachi, Sônia Marchezi
dc.contributor.authorMarquardt, Gregg
dc.contributor.authorMartin, Stephen J
dc.contributor.authorMatern, Dietrich
dc.contributor.authorMayfield Gibson, Stephanie K
dc.contributor.authorMayne, Philip
dc.contributor.authorMcCallister, Tonya D
dc.contributor.authorMcCann, Mark
dc.contributor.authorMcClure, Julie
dc.contributor.authorMcGill, James J
dc.contributor.authorMcKeever, Christine D
dc.contributor.authorMcNeilly, Barbara
dc.contributor.authorMorrissey, Mark A
dc.contributor.authorMoutsatsou, Paraskevi
dc.contributor.authorMulcahy, Eleanor A
dc.contributor.authorNikoloudis, Dimitris
dc.contributor.authorNorgaard-Pedersen, Bent
dc.contributor.authorOglesbee, Devin
dc.contributor.authorOltarzewski, Mariusz
dc.contributor.authorOmbrone, Daniela
dc.contributor.authorOjodu, Jelili
dc.contributor.authorPapakonstantinou, Vagelis
dc.contributor.authorReoyo, Sherly Pardo
dc.contributor.authorPark, Hyung-Doo
dc.contributor.authorPasquali, Marzia
dc.contributor.authorPasquini, Elisabetta
dc.contributor.authorPatel, Pallavi
dc.contributor.authorPass, Kenneth A
dc.contributor.authorPeterson, Colleen
dc.contributor.authorPettersen, Rolf D
dc.contributor.authorPitt, James J
dc.contributor.authorPoh, Sherry
dc.contributor.authorPollak, Arnold
dc.contributor.authorPorter, Cory
dc.contributor.authorPoston, Philip A
dc.contributor.authorPrice, Ricky W
dc.contributor.authorQueijo, Cecilia
dc.contributor.authorQuesada, Jonessy
dc.contributor.authorRandell, Edward
dc.contributor.authorRanieri, Enzo
dc.contributor.authorRaymond, Kimiyo
dc.contributor.authorReddic, John E
dc.contributor.authorReuben, Alejandra
dc.contributor.authorRicciardi, Charla
dc.contributor.authorRinaldo, Piero
dc.contributor.authorRivera, Jeff D
dc.contributor.authorRoberts, Alicia
dc.contributor.authorRocha, Hugo
dc.contributor.authorRoche, Geraldine
dc.contributor.authorGreenberg, Cheryl Rochman
dc.contributor.authorMellado, José María Egea
dc.contributor.authorJuan-Fita, María Jesús
dc.contributor.authorRuiz, Consuelo
dc.contributor.authorRuoppolo, Margherita
dc.contributor.authorRutledge, S Lane
dc.contributor.authorRyu, Euijung
dc.contributor.authorSaban, Christine
dc.contributor.authorSahai, Inderneel
dc.contributor.authorGarcía-Blanco, Maria Isabel Salazar
dc.contributor.authorSantiago-Borrero, Pedro
dc.contributor.authorSchenone, Andrea
dc.contributor.authorSchoos, Roland
dc.contributor.authorSchweitzer, Barb
dc.contributor.authorScott, Patricia
dc.contributor.authorSeashore, Margretta R
dc.contributor.authorSeeterlin, Mary A
dc.contributor.authorSesser, David E
dc.contributor.authorSevier, Darrin W
dc.contributor.authorShone, Scott M
dc.contributor.authorSinclair, Graham
dc.contributor.authorSkrinska, Victor A
dc.contributor.authorStanley, Eleanor L
dc.contributor.authorStrovel, Erin T
dc.contributor.authorJones, April L Studinski
dc.contributor.authorSunny, Sherlykutty
dc.contributor.authorTakats, Zoltan
dc.contributor.authorTanyalcin, Tijen
dc.contributor.authorTeofoli, Francesca
dc.contributor.authorThompson, J Robert
dc.contributor.authorTomashitis, Kathy
dc.contributor.authorDomingos, Mouseline Torquado
dc.contributor.authorTorres, Jasmin
dc.contributor.authorTorres, Rosario
dc.contributor.authorTortorelli, Silvia
dc.contributor.authorTuri, Sandor
dc.contributor.authorTurner, Kimberley
dc.contributor.authorTzanakos, Nick
dc.contributor.authorValiente, Alf G
dc.contributor.authorVallance, Hillary
dc.contributor.authorVela-Amieva, Marcela
dc.contributor.authorVilarinho, Laura
dc.contributor.authorvon Döbeln, Ulrika
dc.contributor.authorVincent, Marie-Francoise
dc.contributor.authorVorster, B Chris
dc.contributor.authorWatson, Michael S
dc.contributor.authorWebster, Dianne
dc.contributor.authorWeiss, Sheila
dc.contributor.authorWilcken, Bridget
dc.contributor.authorWiley, Veronica
dc.contributor.authorWilliams, Sharon K
dc.contributor.authorWillis, Sharon A
dc.contributor.authorWoontner, Michael
dc.contributor.authorWright, Katherine
dc.contributor.authorYahyaoui, Raquel
dc.contributor.authorYamaguchi, Seiji
dc.contributor.authorYssel, Melissa
dc.contributor.authorZakowicz, Wendy M
dc.date.accessioned2012-06-04T15:14:46Z
dc.date.available2012-06-04T15:14:46Z
dc.date.issued2011-03
dc.date.submitted2012-06-04
dc.identifier.citationGenet. Med. 2011, 13(3):230-54en_GB
dc.identifier.issn1530-0366
dc.identifier.pmid21325949
dc.identifier.doi10.1097/GIM.0b013e31820d5e67
dc.identifier.urihttp://hdl.handle.net/2336/227432
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links field.en_GB
dc.description.abstractPURPOSE: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. METHODS: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25–30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile of the normal population. The cutoff target ranges of analytes and ratios are then defined as the interval between selected percentiles of the two populations. When overlaps occur, adjustments are made to maximize sensitivity and specificity taking all available factors into consideration. RESULTS: As of December 1, 2010, 130 sites in 45 countries have uploaded a total of 25,114 percentile data points, 565,232 analyte results of true positive cases with 64 conditions, and 5,341 cutoff values. The average rate of submission of true positive cases between December 1, 2008, and December 1, 2010, was 5.1 cases/day. This cumulative evidence generated 91 high and 23 low cutoff target ranges. The overall proportion of cutoff values within the respective target range was 42% (2,269/5,341). CONCLUSION: An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders.
dc.description.sponsorshipHealth Resources and Service Administration (HRSA) of the Maternal and Child Health Bureau (MCHB) U22MC03963 Mayo Clinic College of Medicineen_GB
dc.language.isoenen
dc.publisherNature Publishing Groupen_GB
dc.relation.urlhttp://dx.doi.org/10.1097/GIM.0b013e31820d5e67en_GB
dc.rightsArchived with thanks to Genetics in medicine : official journal of the American College of Medical Geneticsen_GB
dc.subject.meshAmino Acidsen_GB
dc.subject.meshCarnitineen_GB
dc.subject.meshHumansen_GB
dc.subject.meshInfant, Newbornen_GB
dc.subject.meshInternational Cooperationen_GB
dc.subject.meshMetabolic Diseasesen_GB
dc.subject.meshNeonatal Screeningen_GB
dc.subject.meshReference Valuesen_GB
dc.subject.meshSensitivity and Specificityen_GB
dc.subject.meshSoftwareen_GB
dc.subject.meshTandem Mass Spectrometryen_GB
dc.titleClinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.en
dc.typeArticleen
dc.contributor.departmentMayo Clinic College of Medicine, Rochester, Minnesota, USA.en_GB
dc.identifier.journalGenetics in medicine : official journal of the American College of Medical Geneticsen_GB
html.description.abstractPURPOSE: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. METHODS: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25–30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile of the normal population. The cutoff target ranges of analytes and ratios are then defined as the interval between selected percentiles of the two populations. When overlaps occur, adjustments are made to maximize sensitivity and specificity taking all available factors into consideration. RESULTS: As of December 1, 2010, 130 sites in 45 countries have uploaded a total of 25,114 percentile data points, 565,232 analyte results of true positive cases with 64 conditions, and 5,341 cutoff values. The average rate of submission of true positive cases between December 1, 2008, and December 1, 2010, was 5.1 cases/day. This cumulative evidence generated 91 high and 23 low cutoff target ranges. The overall proportion of cutoff values within the respective target range was 42% (2,269/5,341). CONCLUSION: An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders.


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