Newborn screening (English Wikipedia)

Clague A, Thomas A (2002). "Neonatal biochemical screening for disease". Clin. Chim. Acta. 315 (1–2): 99–110. doi:10.1016/S0009-8981(01)00716-1. PMID 11728413.
Klein AH, Agustin AV, Foley TP (1974). "Successful laboratory screening for congenital hypothyroidism". Lancet. 2 (7872): 77–9. doi:10.1016/S0140-6736(74)91637-7. PMID 4137217.
Chace DH, Kalas TA, Naylor EW (2003). "Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns". Clin. Chem. 49 (11): 1797–817. doi:10.1373/clinchem.2003.022178. PMID 14578311.
Chace DH, Hannon WH (2016). "Filter Paper as a Blood Sample Collection Device for Newborn Screening". Clinical Chemistry. 62 (3): 423–425. doi:10.1373/clinchem.2015.252007. ISSN 0009-9147. PMID 26797689.
Ross LF (2006). "Screening for conditions that do not meet the Wilson and Jungner criteria: The case of Duchenne muscular dystrophy". American Journal of Medical Genetics Part A. 140A (8): 914–922. doi:10.1002/ajmg.a.31165. PMID 16528755. S2CID 24612331.
Pollitt RJ (2009). "Newborn blood spot screening: New opportunities, old problems". Journal of Inherited Metabolic Disease. 32 (3): 395–399. doi:10.1007/s10545-009-9962-0. PMID 19412659. S2CID 41563580.
Gonzalez J, Willis MS (2009). "Robert Guthrie, MD, PhD: Clinical Chemistry/Microbiology". Laboratory Medicine. 40 (12): 748–749. doi:10.1309/LMD48N6BNZSXIPVH.
Lindner M, Gramer G, Haege G, Fang-Hoffmann J, Schwab KO, Tacke U, Trefz FK, Mengel E, Wendel U, Leichsenring M, Burgard P, Hoffmann GF (2011). "Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *". Orphanet Journal of Rare Diseases. 6: 44. doi:10.1186/1750-1172-6-44. PMC 3141366. PMID 21689452.
Mitchell JJ, Trakadis YJ, Scriver CR (2011). "Phenylalanine hydroxylase deficiency". Genetics in Medicine. 13 (8): 697–707. doi:10.1097/GIM.0b013e3182141b48. PMID 21555948. S2CID 25921607.
Kasper DC, Ratschmann R, Metz TF, Mechtler TP, Möslinger D, Konstantopoulou V, Item CB, Pollak A, Herkner KR (2010). "The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals". Wiener Klinische Wochenschrift. 122 (21–22): 607–613. doi:10.1007/s00508-010-1457-3. PMID 20938748. S2CID 27643449.
Komrower GM, Sardharwalla IB, Fowler B, Bridge C (1979). "The Manchester regional screening programme: A 10-year exercise in patient and family care". British Medical Journal. 2 (6191): 635–638. doi:10.1136/bmj.2.6191.635. PMC 1596331. PMID 497752.
Yang ZI, Lantz PE, Ibdah JA (2007). "Post-mortem analysis for two prevalent β-oxidation mutations in sudden infant death". Pediatrics International. 49 (6): 883–887. doi:10.1111/j.1442-200X.2007.02478.x. PMID 18045290. S2CID 25455710.
Korman SH, Gutman A, Brooks R, Sinnathamby T, Gregersen N, Andresen BS (2004). "Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G>C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status". Molecular Genetics and Metabolism. 82 (2): 121–129. doi:10.1016/j.ymgme.2004.03.002. PMID 15171999.
Gregersen N, Winter V, Jensen PK, Holmskov A, Kølvraa S, Andresen BS, Christensen E, Bross P, Lundemose JB, Gregersen M (1995). "Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood". Prenatal Diagnosis. 15 (1): 82–86. doi:10.1002/pd.1970150118. PMID 7740006. S2CID 24295134.
Lindner M, Hoffmann GF, Matern D (2010). "Newborn screening for disorders of fatty-acid oxidation: Experience and recommendations from an expert meeting". Journal of Inherited Metabolic Disease. 33 (5): 521–526. doi:10.1007/s10545-010-9076-8. PMID 20373143. S2CID 1794910.
Pass KA, Neto EC (2009). "Update: Newborn Screening for Endocrinopathies". Endocrinology & Metabolism Clinics of North America. 38 (4): 827–837. doi:10.1016/j.ecl.2009.08.005. PMID 19944295.
Mu D, Sun D, Qian X, Ma X, Qiu L, Cheng X, Yu S (December 2023). "Steroid profiling in adrenal disease". Clin Chim Acta. 553: 117749. doi:10.1016/j.cca.2023.117749. PMID 38169194. S2CID 266721414.
Benson JM, Therrell BL (2010). "History and Current Status of Newborn Screening for Hemoglobinopathies". Seminars in Perinatology. 34 (2): 134–144. doi:10.1053/j.semperi.2009.12.006. PMID 20207263.
Barben J, Gallati S, Fingerhut R, Schoeni MH, Baumgartner MR, Torresani T, Swiss Cf Screening G (2012). "Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland". Journal of Cystic Fibrosis. 11 (4): 332–336. doi:10.1016/j.jcf.2012.01.001. PMID 22300503.
Sobczyńska-Tomaszewska A, Ołtarzewski M, Czerska K, Wertheim-Tysarowska K, Sands D, Walkowiak JA, Bal J, Mazurczak T (2012). "Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy". European Journal of Human Genetics. 21 (4): 391–6. doi:10.1038/ejhg.2012.180. PMC 3598320. PMID 22892530.
Wagener JS, Zemanick ET, Sontag MK (2012). "Newborn screening for cystic fibrosis". Current Opinion in Pediatrics. 24 (3): 329–335. doi:10.1097/MOP.0b013e328353489a. PMID 22491493. S2CID 44562190.
Lilley M, Christian S, Hume S, Scott P, Montgomery M, Semple L, Zuberbuhler P, Tabak J, Bamforth F, Somerville MJ (2010). "Newborn screening for cystic fibrosis in Alberta: Two years of experience". Paediatrics & Child Health. 15 (9): 590–594. doi:10.1093/pch/15.9.590. PMC 3009566. PMID 22043142.
Sokoro AA, Lepage J, Antonishyn N, McDonald R, Rockman-Greenberg C, Irvine J, Lehotay DC (2010). "Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan". Journal of Inherited Metabolic Disease. 33: 275–281. doi:10.1007/s10545-010-9148-9. PMID 20574716. S2CID 955463.
Marsden D, Levy H (2010). "Newborn Screening of Lysosomal Storage Disorders". Clinical Chemistry. 56 (7): 1071–1079. doi:10.1373/clinchem.2009.141622. PMID 20489136.
Mechtler TP, Stary S, Metz TF, De Jesús VC, Greber-Platzer S, Pollak A, Herkner KR, Streubel B, Kasper DC (2012). "Neonatal screening for lysosomal storage disorders: Feasibility and incidence from a nationwide study in Austria". The Lancet. 379 (9813): 335–341. doi:10.1016/S0140-6736(11)61266-X. PMID 22133539. S2CID 23650785.
Papacharalampous GX, Nikolopoulos TP, Davilis DI, Xenellis IE, Korres SG (2011). "Universal newborn hearing screening, a revolutionary diagnosis of deafness: Real benefits and limitations". European Archives of Oto-Rhino-Laryngology. 268 (10): 1399–1406. doi:10.1007/s00405-011-1672-1. PMID 21698417. S2CID 20647009.
Thangaratinam S, Brown K, Zamora J, Khan KS, Ewer AK (2012). "Pulse oximetry screening for critical congenital heart defects in asymptomatic newborn babies: A systematic review and meta-analysis". The Lancet. 379 (9835): 2459–2464. doi:10.1016/S0140-6736(12)60107-X. PMID 22554860. S2CID 19949842.
Puck JM (2018). "Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels". Hastings Center Report. 48 (Suppl 2): S7 – S9. doi:10.1002/hast.875. PMC 6886663. PMID 30133735.
Chase NM, Verbsky JW, Routes JM (2010). "Newborn screening for T-cell deficiency". Current Opinion in Allergy and Clinical Immunology. 10 (6): 521–525. doi:10.1097/ACI.0b013e32833fd6fe. PMID 20864885. S2CID 13506398.
Raymond GV, Jones RO, Moser AB (2007). "Newborn screening for adrenoleukodystrophy: Implications for therapy". Molecular Diagnosis & Therapy. 11 (6): 381–384. doi:10.1007/BF03256261. PMID 18078355. S2CID 21323198.
Carmichael M (2011). "Newborn screening: A spot of trouble". Nature. 475 (7355): 156–158. doi:10.1038/475156a. PMID 21753828.
Nicholls SG (2011). "Proceduralisation, choice and parental reflections on decisions to accept newborn bloodspot screening". Journal of Medical Ethics. 38 (5): 299–303. doi:10.1136/medethics-2011-100040. PMID 22186830. S2CID 207009929.
Bros-Facer V, Taylor S, Patch C (2023-10-07). "Next-generation sequencing-based newborn screening initiatives in Europe: an overview". Rare Disease and Orphan Drugs Journal. 2 (4). doi:10.20517/rdodj.2023.26.
American Academy of Pediatrics Newborn Screening Authoring Committee (2008). "Newborn Screening Expands: Recommendations for Pediatricians and Medical Homes-Implications for the". Pediatrics. 121 (1): 192–217. doi:10.1542/peds.2007-3021. PMID 18166575.
De Jesús VC, Mei JV, Bell CJ, Hannon WH (2010). "Improving and Assuring Newborn Screening Laboratory Quality Worldwide: 30-Year Experience at the Centers for Disease Control and Prevention". Seminars in Perinatology. 34 (2): 125–133. doi:10.1053/j.semperi.2009.12.003. PMID 20207262.
Waisbren SE (August 2006). "Newborn screening for metabolic disorders". JAMA. 296 (8): 993–5. doi:10.1001/jama.296.8.993. PMID 16926360.
Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GF (June 2003). "Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications". Pediatrics. 111 (6): 1399–406. doi:10.1542/peds.111.6.1399. PMID 12777559.{{cite journal}}: CS1 maint: multiple names: authors list (link)
Schoen EJ, Baker JC, Colby CJ, To TT (October 2002). "Cost-benefit analysis of universal tandem mass spectrometry for newborn screening". Pediatrics. 110 (4): 781–6. doi:10.1542/peds.110.4.781. PMID 12359795.
Schmidt, J.L., Castellanos-Brown, K., Childress, S., et al. (2012). "The impact of false-positive newborn screening results on families: a qualitative study". Genetics in Medicine. 14 (1): 76–80. doi:10.1038/gim.2011.5. PMID 22237434.
Goldenberg A (2012). "The Ethical Hazards and Programmatic Challenges of Genomic Newborn Screening". JAMA. 307 (5): 461–2. doi:10.1001/jama.2012.68. PMC 3868436. PMID 22298675.
Tarini B (2006). "State Newborn Screening in the Tandem Mass Spectrometry Era: More Tests, More False-Positive Results" (PDF). Pediatrics. 118 (2): 448–56. doi:10.1542/peds.2005-2026. PMID 16882794. S2CID 28070141. Retrieved 9 November 2013.

firststeps-ngs.gr

"Αρχική First steps". First Steps. Retrieved 2024-03-20.

genomicsengland.co.uk

"Newborn Genomes Programme". Genomics England. nd. Retrieved 2024-03-20.

gouv.qc.ca

www4.gouv.qc.ca

"Newborn urine screening". Government of Quebec. Archived from the original on 2012-01-14. Retrieved 2012-08-16.
"Newborn blood screening". Government of Quebec. Retrieved 2012-08-16.

kxan.com

Nanci Wilson (23 December 2009). "Newborn DNA samples to be destroyed". Austin News. Archived from the original on 24 December 2009. Retrieved 21 December 2019.

nationwidechildrens.org

"Newborn screening for DMD shows promise as an international model". Nationwide Children's Hospital. 2012-03-19. Retrieved 2012-08-24.

newbornscreening.info

"Financial, Ethical, Legal, and Social Issues". Archived from the original on 2006-01-27. Retrieved 2006-01-24.

nih.gov

pubmed.ncbi.nlm.nih.gov

Clague A, Thomas A (2002). "Neonatal biochemical screening for disease". Clin. Chim. Acta. 315 (1–2): 99–110. doi:10.1016/S0009-8981(01)00716-1. PMID 11728413.
Klein AH, Agustin AV, Foley TP (1974). "Successful laboratory screening for congenital hypothyroidism". Lancet. 2 (7872): 77–9. doi:10.1016/S0140-6736(74)91637-7. PMID 4137217.
Chace DH, Kalas TA, Naylor EW (2003). "Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns". Clin. Chem. 49 (11): 1797–817. doi:10.1373/clinchem.2003.022178. PMID 14578311.
Chace DH, Hannon WH (2016). "Filter Paper as a Blood Sample Collection Device for Newborn Screening". Clinical Chemistry. 62 (3): 423–425. doi:10.1373/clinchem.2015.252007. ISSN 0009-9147. PMID 26797689.
Wilson JM, Jungner YG (1968). "Principles and practice of mass screening for disease". Boletin de la Oficina Sanitaria Panamericana. Pan American Sanitary Bureau. 65 (4): 281–393. PMID 4234760.
Ross LF (2006). "Screening for conditions that do not meet the Wilson and Jungner criteria: The case of Duchenne muscular dystrophy". American Journal of Medical Genetics Part A. 140A (8): 914–922. doi:10.1002/ajmg.a.31165. PMID 16528755. S2CID 24612331.
Pollitt RJ (2009). "Newborn blood spot screening: New opportunities, old problems". Journal of Inherited Metabolic Disease. 32 (3): 395–399. doi:10.1007/s10545-009-9962-0. PMID 19412659. S2CID 41563580.
Lindner M, Gramer G, Haege G, Fang-Hoffmann J, Schwab KO, Tacke U, Trefz FK, Mengel E, Wendel U, Leichsenring M, Burgard P, Hoffmann GF (2011). "Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *". Orphanet Journal of Rare Diseases. 6: 44. doi:10.1186/1750-1172-6-44. PMC 3141366. PMID 21689452.
Mitchell JJ, Trakadis YJ, Scriver CR (2011). "Phenylalanine hydroxylase deficiency". Genetics in Medicine. 13 (8): 697–707. doi:10.1097/GIM.0b013e3182141b48. PMID 21555948. S2CID 25921607.
Kasper DC, Ratschmann R, Metz TF, Mechtler TP, Möslinger D, Konstantopoulou V, Item CB, Pollak A, Herkner KR (2010). "The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals". Wiener Klinische Wochenschrift. 122 (21–22): 607–613. doi:10.1007/s00508-010-1457-3. PMID 20938748. S2CID 27643449.
Komrower GM, Sardharwalla IB, Fowler B, Bridge C (1979). "The Manchester regional screening programme: A 10-year exercise in patient and family care". British Medical Journal. 2 (6191): 635–638. doi:10.1136/bmj.2.6191.635. PMC 1596331. PMID 497752.
Yang ZI, Lantz PE, Ibdah JA (2007). "Post-mortem analysis for two prevalent β-oxidation mutations in sudden infant death". Pediatrics International. 49 (6): 883–887. doi:10.1111/j.1442-200X.2007.02478.x. PMID 18045290. S2CID 25455710.
Korman SH, Gutman A, Brooks R, Sinnathamby T, Gregersen N, Andresen BS (2004). "Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G>C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status". Molecular Genetics and Metabolism. 82 (2): 121–129. doi:10.1016/j.ymgme.2004.03.002. PMID 15171999.
Gregersen N, Winter V, Jensen PK, Holmskov A, Kølvraa S, Andresen BS, Christensen E, Bross P, Lundemose JB, Gregersen M (1995). "Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood". Prenatal Diagnosis. 15 (1): 82–86. doi:10.1002/pd.1970150118. PMID 7740006. S2CID 24295134.
Lindner M, Hoffmann GF, Matern D (2010). "Newborn screening for disorders of fatty-acid oxidation: Experience and recommendations from an expert meeting". Journal of Inherited Metabolic Disease. 33 (5): 521–526. doi:10.1007/s10545-010-9076-8. PMID 20373143. S2CID 1794910.
Pass KA, Neto EC (2009). "Update: Newborn Screening for Endocrinopathies". Endocrinology & Metabolism Clinics of North America. 38 (4): 827–837. doi:10.1016/j.ecl.2009.08.005. PMID 19944295.
Mu D, Sun D, Qian X, Ma X, Qiu L, Cheng X, Yu S (December 2023). "Steroid profiling in adrenal disease". Clin Chim Acta. 553: 117749. doi:10.1016/j.cca.2023.117749. PMID 38169194. S2CID 266721414.
Benson JM, Therrell BL (2010). "History and Current Status of Newborn Screening for Hemoglobinopathies". Seminars in Perinatology. 34 (2): 134–144. doi:10.1053/j.semperi.2009.12.006. PMID 20207263.
Barben J, Gallati S, Fingerhut R, Schoeni MH, Baumgartner MR, Torresani T, Swiss Cf Screening G (2012). "Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland". Journal of Cystic Fibrosis. 11 (4): 332–336. doi:10.1016/j.jcf.2012.01.001. PMID 22300503.
Sobczyńska-Tomaszewska A, Ołtarzewski M, Czerska K, Wertheim-Tysarowska K, Sands D, Walkowiak JA, Bal J, Mazurczak T (2012). "Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy". European Journal of Human Genetics. 21 (4): 391–6. doi:10.1038/ejhg.2012.180. PMC 3598320. PMID 22892530.
Wagener JS, Zemanick ET, Sontag MK (2012). "Newborn screening for cystic fibrosis". Current Opinion in Pediatrics. 24 (3): 329–335. doi:10.1097/MOP.0b013e328353489a. PMID 22491493. S2CID 44562190.
Lilley M, Christian S, Hume S, Scott P, Montgomery M, Semple L, Zuberbuhler P, Tabak J, Bamforth F, Somerville MJ (2010). "Newborn screening for cystic fibrosis in Alberta: Two years of experience". Paediatrics & Child Health. 15 (9): 590–594. doi:10.1093/pch/15.9.590. PMC 3009566. PMID 22043142.
Sokoro AA, Lepage J, Antonishyn N, McDonald R, Rockman-Greenberg C, Irvine J, Lehotay DC (2010). "Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan". Journal of Inherited Metabolic Disease. 33: 275–281. doi:10.1007/s10545-010-9148-9. PMID 20574716. S2CID 955463.
Marsden D, Levy H (2010). "Newborn Screening of Lysosomal Storage Disorders". Clinical Chemistry. 56 (7): 1071–1079. doi:10.1373/clinchem.2009.141622. PMID 20489136.
Mechtler TP, Stary S, Metz TF, De Jesús VC, Greber-Platzer S, Pollak A, Herkner KR, Streubel B, Kasper DC (2012). "Neonatal screening for lysosomal storage disorders: Feasibility and incidence from a nationwide study in Austria". The Lancet. 379 (9813): 335–341. doi:10.1016/S0140-6736(11)61266-X. PMID 22133539. S2CID 23650785.
Papacharalampous GX, Nikolopoulos TP, Davilis DI, Xenellis IE, Korres SG (2011). "Universal newborn hearing screening, a revolutionary diagnosis of deafness: Real benefits and limitations". European Archives of Oto-Rhino-Laryngology. 268 (10): 1399–1406. doi:10.1007/s00405-011-1672-1. PMID 21698417. S2CID 20647009.
Thangaratinam S, Brown K, Zamora J, Khan KS, Ewer AK (2012). "Pulse oximetry screening for critical congenital heart defects in asymptomatic newborn babies: A systematic review and meta-analysis". The Lancet. 379 (9835): 2459–2464. doi:10.1016/S0140-6736(12)60107-X. PMID 22554860. S2CID 19949842.
Puck JM (2018). "Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels". Hastings Center Report. 48 (Suppl 2): S7 – S9. doi:10.1002/hast.875. PMC 6886663. PMID 30133735.
Chase NM, Verbsky JW, Routes JM (2010). "Newborn screening for T-cell deficiency". Current Opinion in Allergy and Clinical Immunology. 10 (6): 521–525. doi:10.1097/ACI.0b013e32833fd6fe. PMID 20864885. S2CID 13506398.
Raymond GV, Jones RO, Moser AB (2007). "Newborn screening for adrenoleukodystrophy: Implications for therapy". Molecular Diagnosis & Therapy. 11 (6): 381–384. doi:10.1007/BF03256261. PMID 18078355. S2CID 21323198.
Carmichael M (2011). "Newborn screening: A spot of trouble". Nature. 475 (7355): 156–158. doi:10.1038/475156a. PMID 21753828.
Nicholls SG (2011). "Proceduralisation, choice and parental reflections on decisions to accept newborn bloodspot screening". Journal of Medical Ethics. 38 (5): 299–303. doi:10.1136/medethics-2011-100040. PMID 22186830. S2CID 207009929.
American Academy of Pediatrics Newborn Screening Authoring Committee (2008). "Newborn Screening Expands: Recommendations for Pediatricians and Medical Homes-Implications for the". Pediatrics. 121 (1): 192–217. doi:10.1542/peds.2007-3021. PMID 18166575.
De Jesús VC, Mei JV, Bell CJ, Hannon WH (2010). "Improving and Assuring Newborn Screening Laboratory Quality Worldwide: 30-Year Experience at the Centers for Disease Control and Prevention". Seminars in Perinatology. 34 (2): 125–133. doi:10.1053/j.semperi.2009.12.003. PMID 20207262.
Waisbren SE (August 2006). "Newborn screening for metabolic disorders". JAMA. 296 (8): 993–5. doi:10.1001/jama.296.8.993. PMID 16926360.
Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GF (June 2003). "Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications". Pediatrics. 111 (6): 1399–406. doi:10.1542/peds.111.6.1399. PMID 12777559.{{cite journal}}: CS1 maint: multiple names: authors list (link)
Schoen EJ, Baker JC, Colby CJ, To TT (October 2002). "Cost-benefit analysis of universal tandem mass spectrometry for newborn screening". Pediatrics. 110 (4): 781–6. doi:10.1542/peds.110.4.781. PMID 12359795.
Schmidt, J.L., Castellanos-Brown, K., Childress, S., et al. (2012). "The impact of false-positive newborn screening results on families: a qualitative study". Genetics in Medicine. 14 (1): 76–80. doi:10.1038/gim.2011.5. PMID 22237434.
Goldenberg A (2012). "The Ethical Hazards and Programmatic Challenges of Genomic Newborn Screening". JAMA. 307 (5): 461–2. doi:10.1001/jama.2012.68. PMC 3868436. PMID 22298675.
Tarini B (2006). "State Newborn Screening in the Tandem Mass Spectrometry Era: More Tests, More False-Positive Results" (PDF). Pediatrics. 118 (2): 448–56. doi:10.1542/peds.2005-2026. PMID 16882794. S2CID 28070141. Retrieved 9 November 2013.

ncbi.nlm.nih.gov

Lindner M, Gramer G, Haege G, Fang-Hoffmann J, Schwab KO, Tacke U, Trefz FK, Mengel E, Wendel U, Leichsenring M, Burgard P, Hoffmann GF (2011). "Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *". Orphanet Journal of Rare Diseases. 6: 44. doi:10.1186/1750-1172-6-44. PMC 3141366. PMID 21689452.
Komrower GM, Sardharwalla IB, Fowler B, Bridge C (1979). "The Manchester regional screening programme: A 10-year exercise in patient and family care". British Medical Journal. 2 (6191): 635–638. doi:10.1136/bmj.2.6191.635. PMC 1596331. PMID 497752.
Sobczyńska-Tomaszewska A, Ołtarzewski M, Czerska K, Wertheim-Tysarowska K, Sands D, Walkowiak JA, Bal J, Mazurczak T (2012). "Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy". European Journal of Human Genetics. 21 (4): 391–6. doi:10.1038/ejhg.2012.180. PMC 3598320. PMID 22892530.
Lilley M, Christian S, Hume S, Scott P, Montgomery M, Semple L, Zuberbuhler P, Tabak J, Bamforth F, Somerville MJ (2010). "Newborn screening for cystic fibrosis in Alberta: Two years of experience". Paediatrics & Child Health. 15 (9): 590–594. doi:10.1093/pch/15.9.590. PMC 3009566. PMID 22043142.
Puck JM (2018). "Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels". Hastings Center Report. 48 (Suppl 2): S7 – S9. doi:10.1002/hast.875. PMC 6886663. PMID 30133735.
Goldenberg A (2012). "The Ethical Hazards and Programmatic Challenges of Genomic Newborn Screening". JAMA. 307 (5): 461–2. doi:10.1001/jama.2012.68. PMC 3868436. PMID 22298675.

oaepublish.com

Bros-Facer V, Taylor S, Patch C (2023-10-07). "Next-generation sequencing-based newborn screening initiatives in Europe: an overview". Rare Disease and Orphan Drugs Journal. 2 (4). doi:10.20517/rdodj.2023.26.

orpha.net

Hoffmann G. "Glutaryl-CoA dehydrogenase deficiency". Orphanet. The portal for rare diseases and orphan drugs. Retrieved 21 December 2019.

primaryimmune.org

"All 50 States Now Screening Newborns for Severe Combined Immunodeficiency (SCID) | Immune Deficiency Foundation". primaryimmune.org. Archived from the original on 2019-09-05. Retrieved 2023-05-29.

screen4care.eu

"Screen4Care". screen4care.eu. Retrieved 2024-03-20.

semanticscholar.org

api.semanticscholar.org

Ross LF (2006). "Screening for conditions that do not meet the Wilson and Jungner criteria: The case of Duchenne muscular dystrophy". American Journal of Medical Genetics Part A. 140A (8): 914–922. doi:10.1002/ajmg.a.31165. PMID 16528755. S2CID 24612331.
Pollitt RJ (2009). "Newborn blood spot screening: New opportunities, old problems". Journal of Inherited Metabolic Disease. 32 (3): 395–399. doi:10.1007/s10545-009-9962-0. PMID 19412659. S2CID 41563580.
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