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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
David McHugh, Cynthia A. Cameron, José E. Abdenur, Mahera Abdulrahman, Ona O. Adair, Shahira Ahmed Al Nuaimi, Henrik Åhlman, Jennifer J. Allen, I. Antonozzi, Shaina Archer, Sylvia Mann Au, Christiane Auray‐Blais, Mei Baker, Fiona Bamforth, Kinga Beckmann, Gessi Bentz Pino, Stanton L. Berberich, Robert Binard, François Boemer, Jim Bonham, Nancy N. Breen, Sandra C. Bryant, Michele Caggana, S. Graham Caldwell, Marta Camilot, Carlene Campbell, Claudia Carducci, Rohit Cariappa, Clover Carlisle, Ubaldo Caruso, Michela Cassanello, Ane Miren Castilla, Daisy E. Castiñeiras Ramos, Pranesh Chakraborty, Ram Chandrasekar, Alfredo Chardon Ramos, David Cheillan, Yin‐Hsiu Chien, Thomas A. Childs, Petr Chrastina, Yuri Cleverthon Sica, José Ángel Cocho de Juan, Maria Elena Colandre, Veronica Cornejo Espinoza, Gaetano Corso, Robert J. Currier, Denis Cyr, Noémi Czuczy, Oceania D’Apolito, Tim D. Davis, Monique G. de Sain-van der Velden, Carmen lgado De Pecellin, Iole Maria Di Gangi, Cristina Maria Di Stefano, Yannis Dotsikas, Melanie Downing, Stephen M. Downs, Bonifacio Dy, Mark Dymerski, Inmaculada Rueda, Bert Elvers, Roger B. Eaton, Barbara M. Eckerd, Fatma El‐Mougy, Sarah Eroh, Mercedes Espada, Catherine Evans, Sandy Fawbush, Kristel F. Fijolek, Lawrence Fisher, Leifur Franzson, Dianne M. Frazier, Luciana R.C. Garcia, Maria Sierra García-Valdecasas Bermejo, Dimitar Gavrilov, Rosemarie Gerace, Giuseppe Giordano, Lawrence Greed, Robert E. Grier, Elyse Grycki, Xuefan Gu, Fizza Gulamali-Majid, Arthur F. Hagar, Lianshu Han, W. Harry Hannon, Christa Haslip, Fayza Abdelhamid Hassan, Miao He, Amy Hietala, Leslie Himstedt, Gary Hoffman, William H. Hoffman, Philis Hoggatt, Patrick V. Hopkins, David M. Hougaard, Kerie Hughes, Patricia Hunt, Wuh‐Liang Hwu, June Hynes, Isabel Ibarra‐González, Cindy A. Ingham, Ward B. Jacox, Catharine John, John P. Johnson, Jón J. Jónsson, Eszter Karg, David C. Kasper, Brenda Klopper, Dimitris Katakouzinos, Issam Khneisser, Detlef Knoll, Hirinori Kobayashi, Ronald Koneski, Viktor Kožich, Rasoul Kouapei, Dirk Kohlmueller, Ivo Kremensky, Giancarlo la Marca, Marcia Lavochkin, Soo‐Youn Lee, Denis C. Lehotay, Aída Lemes, Joyce Lepage, Barbara G. Lesko, Barry Lewis, Carol S. Lim, Sharon Linard, Martin Lindner, Michele A. Lloyd-Puryear, Fred Lorey, Yannis L. Loukas, Julie Luedtke, Neil Maffitt, James Magee, Adrienne Manning, Shawn Manos, Sandrine Marie, Sônia Marchezi Hadachi, Gregg Marquardt, Stephen J. Martin, Dietrich Matern, Stephanie K. Mayfield Gibson, Philip Mayne, Tonya D. McCallister, Mark McCann, Julie McClure, James McGill, Christine D. McKeever, Barbara McNeilly, Mark A. Morrissey, Paraskevi Moutsatsou, Eleanor A. Mulcahy, Dimitris Nikoloudis, Bent Nørgaard‐Pedersen, Devin Oglesbee, Mariusz Ołtarzewski, Daniela Ombrone, Jelili Ojodu, Vagelis Papakonstantinou, Sherly Pardo Reoyo, Hyung‐Doo Park, Marzia Pasquali, Elisabetta Pasquini, Pallavi Patel, Kenneth A. Pass, Colleen K. Peterson, Rolf D. Pettersen, James Pitt, Sherry Poh, Arnold Pollak, Cory Porter, Philip A. Poston, Ricky W. Price, Cecilia Queijo, Jonessy Quesada, Edward Randell, Enzo Ranieri, Kimiyo Raymond, John Reddic, Alejandra Reuben, Charla Ricciardi, Piero Rinaldo, Jeff D. Rivera, A. Claire Roberts, Hugo Rocha, Géraldine Roche, Cheryl R. Greenberg, José María Egea Mellado, María Jesús Juan-Fita, Consuelo Ruiz, Margherita Ruoppolo, S. Lane Rutledge, Euijung Ryu, Christine Saban, Inderneel Sahai, Maria Isabel Salazar García-Blanco, Pedro J. Santiago-Borrero, Andrea Schenone, Roland Schoos, Barb Schweitzer, Patricia M. Scott, Margretta R. Seashore, Mary Seeterlin, David E. Sesser, Darrin W. Sevier, Scott M. Shone, Graham Sinclair, Victor Skrinska, Eleanor Stanley, Erin T. Strovel, April L Studinski Jones, Sherlykutty Sunny, Zoltán Takáts, Tijen Tanyalçın, Francesca Teofoli, James R. Thompson, Kathy Tomashitis, Mouseline Torquado Domingos, Jasmin Torres, Rosário Torres, Silvia Tortorelli, Sándor Túri, Kimberley Turner, Nick Tzanakos, A. Valiente, Marcela Vela‐Amieva, Laura Vilarinho, Ulrika von Döbeln, M.-Françoise Vincent, B. Chris Vorster, Michael S. Watson, Dianne Webster, Sheila R. Weiss, Bridget Wilcken, Veronica Wiley, Sharon K. Williams, Sharon Willis, Michael Woontner, Katherine Wright, Raquel Yahyaoui, Seiji Yamaguchi, Melissa Yssel, Wendy M. Zakowicz
Bibliographic record
VenueGenetics in Medicine · 2011
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMetabolism and Genetic Disorders
Canadian institutionsManitoba HealthChildren's & Women's Health Centre of British ColumbiaSciex (Canada)Izaak Walton Killam Health CentreSpinal Cord Injury BCAlberta Health ServicesUniversité de SherbrookeMemorial University of NewfoundlandUniversity of ReginaChildren's Hospital of Eastern Ontario
FundersMaternal and Child Health BureauU.S. Public Health ServiceHealth Resources and Services Administration
KeywordsCutoffPercentileMedicinePopulationConfidence intervalNewborn screeningAnalyteReference valuesClinical significanceInternal medicinePediatricsStatisticsMathematicsChemistryChromatographyEnvironmental healthPhysics
Abstract
No abstract in any covered source. Its absence is recorded, not treated as a negative.
No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
metaresearch head score (Codex)0.059
metaresearch head score (Gemma)0.057
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.059
Threshold uncertainty score0.311
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.059 | 0.057 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.002 | 0.002 |
| Scholarly communication | 0.002 | 0.001 |
| Open science | 0.002 | 0.003 |
| Research integrity | 0.002 | 0.002 |
| Insufficient payload (model declined to judge) | 0.001 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
Opus teacher head0.026
GPT teacher head0.321
Teacher spread0.294 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".
Quick stats
Citations352
Published2011
Admission routes1
Has abstractno