- Department of Health and Social Care. UK Rare Diseases Framework. London: Department of Health and Social Care; 2021. URL: www.gov.uk/government/publications/uk-rare-diseases-framework (accessed 16 November 2023).
- Wright CF, FitzPatrick DR, Firth HV. Paediatric genomics: diagnosing rare disease in children. Nat Rev Genet 2018;19:25368. 10.1038/nrg.2017.116
- Gilissen C, Hoischen A, Brunner HG, Veltman JA. Disease gene identification strategies for exome sequencing. Eur J Hum Genet 2012;20:490–7. 10.1038/ejhg.2011.25822258526
- Auton A, Abecasis GR, Altshuler DM, Durbin RM, Abecasis GR, Bentley DR, et al. A global reference for human genetic variation. Nature 2015;526:68–74. 10.1038/nature1539326432245
- Genomics Education Programme. Newborn Screening: Time for a Genomic Approach? London: NHS England; 2021. URL: www.genomicseducation.hee.nhs.uk/blog/newborn-screening-time-for-a-genomic-approach/ (accessed 14 August 2022).
- Genomics England. Newborn Genomes Programme. London: NHS; 2021. URL: https://files.genomicsengland.co.uk/documents/Newborns-Vision-Final_SEP_2021-11-02-122418_jjne.pdf (accessed 16 March 2024).
- UK National Screening Committee. UK NSC: Evidence Review Process. London: UK National Screening Committee; 2024. URL: www.gov.uk/government/publications/uk-nsc-evidence-review-process/uk-nsc-evidence-review-process (accessed 19 May 2024).
- Beaumont RN, Wright CF. Estimating diagnostic noise in panel-based genomic analysis. Genet Med 2022;24:2042–50. 10.1016/j.gim.2022.06.00835920826
- Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al.; ACMG Laboratory Quality Assurance Committee. 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. Genet Med 2015;17:405–24. 10.1038/gim.2015.3025741868
- Forrest IS, Chaudhary K, Vy HMT, Petrazzini BO, Bafna S, Jordan DM, et al. Population-based penetrance of deleterious clinical variants. JAMA 2022;327:350–9. 10.1001/jama.2021.2368635076666
- Wright CF, West B, Tuke M, Jones SE, Patel K, Laver TW, et al. Assessing the pathogenicity, penetrance, and expressivity of putative disease-causing variants in a population setting. Am J Hum Genet 2019;104:275–86. 10.1016/j.ajhg.2018.12.01530665703
- Woerner AC, Gallagher RC, Vockley J, Adhikari AN. The use of whole genome and exome sequencing for newborn screening: challenges and opportunities for population health. Front Pediatr 2021;9:663752. 10.3389/fped.2021.66375234350142
- Nicholls SG. Proceduralisation, choice and parental reflections on decisions to accept newborn bloodspot screening. J Med Ethics 2012;38:299–303. 10.1136/medethics-2011-10004022186830
- Bendor-Samuel OM, Wishlade T, Willis L, Aley P, Choi E, Craik R, et al.; GPPAD Study Group. Successful integration of newborn genetic testing into UK routine screening using prospective consent to determine eligibility for clinical trials. Arch Dis Child 2023;108:26–30. 10.1136/archdischild-2022-32427036171064
- Owens K, Sankar P, Asfaha DM. How clinicians conceptualize ‘actionability’ in genomic screening. J Pers Med 2023;13:290. 10.3390/jpm1302029036836524
- UK National Screening Committee. Criteria for a Population Screening Programme. London: UK National Screening Committee; 2022. URL: www.gov.uk/government/publications/evidence-review-criteria-national-screening-programmes/criteria-for-appraising-the-viability-effectiveness-and-appropriateness-of-a-screening-programme (accessed 7 August 2024).
- Genomics England. How We Choose Conditions. London: Genomics England Limited; 2024. URL: www.genomicsengland.co.uk/initiatives/newborns/choosing-conditions (accessed 8 June 2023).
- Leeds Institute of Health Sciences. AUHE Information Specialists, University of Leeds Checking for Duplicates Guidance. Leeds: University of Leeds; 2019. URL: https://information-specialists.leeds.ac.uk/wp-content/uploads/sites/71/2019/03/Duplicate_checking_guidance.pdf (accessed 15 May 2023).
- Whiting P, Savović J, Higgins JPT, Caldwell DM, Reeves BC, Shea B, et al.; ROBIS Group. ROBIS: a new tool to assess risk of bias in systematic reviews was developed. J Clin Epidemiol 2016;69:225–34. 10.1016/j.jclinepi.2015.06.00526092286
- Hayden JA, van der Windt DA, Cartwright JL, Côté P, Bombardier C. Assessing bias in studies of prognostic factors. Ann Intern Med 2013;158:280–6. 10.7326/0003-4819-158-4-201302190-0000923420236
- Moola S, Munn Z, Tufanaru C, Aromataris E, Sears K, Sfetc R, et al. Chapter 7: systematic reviews of etiology and risk. In Aromataris E, Lockwood C, Porritt K, Pilla B, Jordan Z, editors. JBI Manual for Evidence Synthesis. Adelaide, SA: JBI; 2020. pp. 219–69. 10.46658/jbimes-20-08
- Murad MH, Sultan S, Haffar S, Bazerbachi F. Methodological quality and synthesis of case series and case reports. BMJ Evid Based Med 2018;23:60–3. 10.1136/bmjebm-2017-110853
- Hunter JE, Irving SA, Biesecker LG, Buchanan A, Jensen B, Lee K, et al. A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. Genet Med 2016;18:1258–68. 10.1038/gim.2016.4027124788
- ClinGen. ClinGen Pediatric Actionability Workgroup Protocol: Generation of Summary Reports and Semi-Quantitative Metric Scoring. Bethesda, MD: National Institutes of Health (NIH); 2020. URL: www.clinicalgenome.org/site/assets/files/5075/peds_combined_evidence_curation_and_scoring_protocol_07292020.pdf (accessed 7 March 2024).
- Goddard KAB, Whitlock EP, Berg JS, Williams MS, Webber EM, Webster JA, et al. Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies. Genet Med 2013;15:721–8. 10.1038/gim.2013.3723558254
- Berg JS, Foreman AKM, O’Daniel JM, Booker JK, Boshe L, Carey T, et al. A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing. Genet Med 2016;18:467–75. 10.1038/gim.2015.10426270767
- Schwarze K, Buchanan J, Taylor JC, Wordsworth S. Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature. Genet Med 2018;20:1122–30. 10.1038/gim.2017.24729446766
- Nurchis MC, Riccardi MT, Radio FC, Chillemi G, Bertini ES, Tartaglia M, et al. Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: systematic review and meta-analysis of cost-effectiveness evidence. Health Policy 2022;126:337–45. 10.1016/j.healthpol.2022.03.00135317923
- Ouzzani M, Hammady H, Fedorowicz Z, Elmagarmid A. Rayyan – a web and mobile app for systematic reviews. Syst Rev 2016;5:210. 10.1186/s13643-016-0384-427919275
- Boonsimma P, Ittiwut C, Kamolvisit W, Ittiwut R, Chetruengchai W, Phokaew C, et al. Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact. Eur J Hum Genet 2023;31:179–87. 10.1038/s41431-022-01202-x36198807
- Koul R, Alfutaisi A, Abdelrahim R, Altihilli K. Pyridoxine responsive seizures: beyond aldehyde dehydrogenase 7A1. J Neurosci Rural Pract 2019;10:613–6. 10.1055/s-0039-169777531831980
- Coughlin CR II, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, et al. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy. J Inherit Metab Dis 2019;42:353–61. 10.1002/jimd.1204530043187
- Jiao X, Xue J, Gong P, Wu Y, Zhang Y, Jiang Y, Yang Z. Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study. Dev Med Child Neurol 2020;62:315–21. 10.1111/dmcn.1438531737911
- Jiao X, Gong P, Niu Y, Zhang Y, Yang Z. A rare presentation characterized by epileptic spasms in ALDH7A1, pyridox(am)ine-5’-phosphate oxidase, and PLPBP deficiency. Front Genet 2022;13:804461. 10.3389/fgene.2022.80446135495162
- Mills PB, Footitt EJ, Mills KA, Tuschl K, Aylett S, Varadkar S, et al. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain 2010;133:2148–59. 10.1093/brain/awq14320554659
- Plecko B, Mills P. PNPO Deficiency. Seattle, WA: GeneReviews®, University of Washington; 2022. URL: www.ncbi.nlm.nih.gov/books/NBK581452/ (accessed 18 March 2024).
- Amsterdam UMC. PDE H2M. 2023. URL: https://pdeonline.org/index.html (accessed 6 October 2023).
- Basura GJ, Hagland SP, Wiltse AM, Gospe SM Jr. Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry. Eur J Pediatr 2009;168:697–704. 10.1007/s00431-008-0823-x18762976
- Salviat F, Gauthier-Villars M, Carton M, Cassoux N, Lumbroso-Le Rouic L, Dehainault C, et al. Association between genotype and phenotype in consecutive unrelated individuals with retinoblastoma. JAMA Ophthalmol 2020;138:843–50. 10.1001/jamaophthalmol.2020.210032556071
- Temming P, Viehmann A, Biewald E, Lohmann DR. Sporadic unilateral retinoblastoma or first sign of bilateral disease? Br J Ophthalmol 2013;97:475–80. 10.1136/bjophthalmol-2012-30266623355526
- Hulsenbeck I, Frank M, Biewald E, Kanber D, Lohmann DR, Ketteler P. Introduction of a variant classification system for analysis of genotype-phenotype relationships in heritable retinoblastoma. Cancers 2021;13:1605. 10.3390/cancers1307160533807189
- NHS England. Whole Genome Sequencing. NHS England; 2022. URL: www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/whole-genome-sequencing/ (accessed 18 August 2023).
- Salk JJ, Schmitt MW, Loeb LA. Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations. Nat Rev Genet 2018;19:269–85. 10.1038/nrg.2017.11729576615
- NHS England. Mosaicism. London: NHS England; 2022. URL: www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/mosaicism/ (accessed 15 April 2024).
- Dehainault C, Garancher A, Castéra L, Cassoux N, Aerts I, Doz F, et al. The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion. Hum Mol Genet 2014;23:5243–50. 10.1093/hmg/ddu24524858910
- Jacob P, Bhavani GS, Udupa P, Wang Z, Hariharan SV, Delampady K, et al. Exome sequencing in monogenic forms of rickets. Indian J Pediatr 2023;90:1182–90. 10.1007/s12098-022-04393-936692815
- Marik B, Bagga A, Sinha A, Khandelwal P, Hari P, Sharma A. Genetic and clinical profile of patients with hypophosphatemic rickets. Eur J Med Genet 2022;65:104540. 10.1016/j.ejmg.2022.10454035738466
- Gaucher C, Walrant-Debray O, Nguyen TM, Esterle L, Garabedian M, Jehan F. PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. Hum Genet 2009;125:401–11. 10.1007/s00439-009-0631-z19219621
- Del Pino M, Viterbo GL, Arenas MA, Perez Garrido N, Ramirez P, Marino R, et al. Growth in height and body proportion from birth to adulthood in hereditary hypophosphatemic rickets: a retrospective cohort study. J Endocrinol Invest 2022;45:1349–58. 10.1007/s40618-022-01768-935226335
- Rafaelsen S, Johansson S, Raeder H, Bjerknes R. Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications. Eur J Endocrinol 2016;174:125–36. 10.1530/EJE-15-051526543054
- Ariceta G, Beck-Nielsen SS, Boot AM, Brandi ML, Briot K, de Lucas Collantes C, et al. The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data. Orphanet J Rare Dis 2023;18:304. 10.1186/s13023-023-02882-437752558
- Acar S, Demir K, Shi Y. Genetic causes of rickets. J Clin Res Pediatr Endocrinol 2017;9:88–105. 10.4274/jcrpe.2017.S00829280738
- Cetica V, Sieni E, Pende D, Danesino C, De Fusco C, Locatelli F, et al. Genetic predisposition to hemophagocytic lymphohistiocytosis: report on 500 patients from the Italian registry. J Allergy Clin Immunol 2016;137:188–96.e4. 10.1016/j.jaci.2015.06.04826342526
- Shabrish S, Kelkar M, Yadav RM, Bargir UA, Gupta M, Dalvi A, et al. The spectrum of clinical, immunological, and molecular findings in familial hemophagocytic lymphohistiocytosis: experience from India. Front Immunol 2021;12:612583. 10.3389/fimmu.2021.61258333746956
- Amirifar P, Ranjouri MR, Abolhassani H, Moeini Shad T, Almasi-Hashiani A, Azizi G, et al. Clinical, immunological and genetic findings in patients with UNC13D deficiency (FHL3): a systematic review. Pediatr Allergy Immunol 2021;32:186–97. 10.1111/pai.1332332679608
- Pagel J, Beutel K, Lehmberg K, Koch F, Maul-Pavicic A, Rohlfs AK, et al. Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5). Blood 2012;119:6016–24. 10.1182/blood-2011-12-39895822451424
- Trizzino A, zur Stadt U, Ueda I, Risma K, Janka G, Ishii E, et al.; Histiocyte Society HLH Study Group. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. J Med Genet 2008;45:15–21. 10.1136/jmg.2007.05267017873118
- Henter JI, Horne A, Aricó M, Egeler RM, Filipovich AH, Imashuku S, et al. HLH‐2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 2007;48:124–31. 10.1002/pbc.2103916937360
- Martin-Rivada A, Palomino Perez L, Ruiz-Sala P, Navarrete R, Cambra Conejero A, Quijada Fraile P, et al. Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region. JIMD Rep 2022;63:146–61. 10.1002/jmd2.1226535281663
- Maguolo A, Rodella G, Dianin A, Nurti R, Monge I, Rigotti E, et al. Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: a single centre experience. Mol Genet Metab Rep 2020;24:100632. 10.1016/j.ymgmr.2020.10063232793418
- Wang B, Zhang Q, Gao A, Wang Q, Ma J, Li H, Wang T. New ratios for performance improvement for identifying acyl-CoA dehydrogenase deficiencies in expanded newborn screening: a retrospective study. Front Genet 2019;10:811. 10.3389/fgene.2019.0081131620161
- Nichols MJ, Saavedra-Matiz CA, Pass KA, Caggana M. Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population. Am J Med Genet A 2008;146A:610–9. 10.1002/ajmg.a.3219218241067
- Mesbah Z, Sing Ho K, Fitzsimons P, Monavari AA, Mayne PD, Crushell E. Medium chain acyl-CoA dehydrogenase deficiency (MCADD) in the Irish paediatric population. Ir Med J 2019;112:1016.32311243
- Touw CML, Smit GPA, de Vries M, de Klerk JBC, Bosch AM, Visser G, et al. Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. Orphanet J Rare Dis 2012;7:30. 10.1186/1750-1172-7-3022630369
- Balakrishnan U. Inborn errors of metabolism-approach to diagnosis and management in neonates. Indian J Pediatr 2021;88:679–89. 10.1007/s12098-021-03759-934097229
- Ikegawa K, Hasegawa Y. Presentation and diagnosis of pediatric X-linked hypophosphatemia. Endocrines 2023;4:128–37. URL: www.mdpi.com/2673-396X/4/1/12 (accessed 12 June 2025).
- Grosse SD, Khoury MJ, Greene CL, Crider KS, Pollitt RJ. The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update. Genet Med 2006;8:205–12. 10.1097/01.gim.0000204472.25153.8d16617240
- Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, et al.; International PDE Consortium. Association between lysine reduction therapies and cognitive outcomes in patients with pyridoxine-dependent epilepsy. Neurology 2022;99:e2627–36. 10.1212/WNL.000000000020122236008148
- Drugs.com. Pyridoxine. Drugs.com; 2024. URL: www.drugs.com/mtm/pyridoxine.html (accessed 15 March 2024).
- van Karnebeek CDM, Stockler-Ipsiroglu S, Jaggumantri S, Assmann B, Baxter P, Buhas D, et al. Lysine-restricted diet as adjunct therapy for pyridoxine-dependent epilepsy: The PDE Consortium Consensus Recommendations. In Zschocke J, Gibson KM, Brown G, Morava E, Peters V, editors. JIMD Reports, vol. 15. Berlin; Heidelberg: Springer; 2015. pp. 47–57. 10.1007/8904_2014_296
- Berry JL, Xu L, Polski A, Jubran R, Kuhn P, Kim JW, Hicks J. Aqueous humor is superior to blood as a liquid biopsy for retinoblastoma. Ophthalmology 2020;127:552–4. https://.doi.org/10.1016/j.ophtha.2019.10.02631767439
- Hamel P, Heon E, Gallie BL, Budning AS. Focal therapy in the management of retinoblastoma: when to start and when to stop. J Am Assoc Pediatr Ophthalmol Strab 2000;4:334–7. 10.1067/mpa.2000.107902
- Moncrieff MW. Early biochemical findings in familial hypophosphataemic, hyperphosphaturic rickets and response to treatment. Arch Dis Child 1982;57:70–2.7065698
- Poon KS, Sng AA, Ho CW, Koay ESC, Loke KY. Genetic testing confirmed the early diagnosis of X-linked hypophosphatemic rickets in a 7-month-old infant. J Invest Med High Impact Case Rep 2015;3:598167. 10.1177/2324709615598167
- Lucchini G, Marsh R, Gilmour K, Worth A, Nademi Z, Rao A, et al. Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis. Blood 2018;132:2088–96. 10.1182/blood-2018-01-82748530104219
- Bok LA, Been JV, Struys EA, Jakobs C, Rijper EAM, Willemsen MA. Antenatal treatment in two Dutch families with pyridoxine-dependent seizures. Eur J Pediatr 2010;169:297–303. 10.1007/s00431-009-1020-219588165
- Jiao X, Gong P, Wu Y, Zhang Y, Yang Z. Analysis of the phenotypic variability as well as impact of early diagnosis and treatment in six affected families with ALDH7A1 deficiency. Front Genet 2021;12:644447. 10.3389/fgene.2021.64444733868381
- Strijker M, Tseng LA, van Avezaath LK, Oude Luttikhuis MAM, Ketelaar T, Coughlin CR II, et al. Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study. Eur J Paediatr Neurol 2021;33:112–20. 10.1016/j.ejpn.2021.06.00134153871
- Tseng LA, Abdenur JE, Andrews A, Aziz VG, Bok LA, Boyer M, et al. Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy. Mol Genet Metab 2022;135:350–6. 10.1016/j.ymgme.2022.02.00535279367
- Abramson DH, Beaverson K, Sangani P, Vora RA, Lee TC, Hochberg HM, et al. Screening for retinoblastoma: presenting signs as prognosticators of patient and ocular survival. Pediatrics 2003;112:1248–55. 10.1542/peds.112.6.124814654593
- Chantada GL, Dunkel IJ, Qaddoumi I, Antoneli CBG, Totah A, Canturk S, et al. Familial retinoblastoma in developing countries. Pediatr Blood Cancer 2009;53:338–42. 10.1002/pbc.2197019434730
- Moll AC, Imhof SM, Meeteren AY, Boers M. At what age could screening for familial retinoblastoma be stopped? A register based study 1945–98. Br J Ophthalmol 2000;84:1170–2. 10.1136/bjo.84.10.117011004105
- Rothschild PR, Levy D, Savignoni A, Lumbroso-Le Rouic L, Aerts I, Gauthier-Villars M, et al. Familial retinoblastoma: fundus screening schedule impact and guideline proposal: a retrospective study. Eye 2011;25:1555–61. 10.1038/eye.2011.19821921957
- Soliman SE, ElManhaly M, Dimaras H. Knowledge of genetics in familial retinoblastoma. Ophthalmic Genet 2017;38:226–32. 10.1080/13816810.2016.119584627427836
- Imhof SM, Moll AC, Schouten-van Meeteren AYN. Stage of presentation and visual outcome of patients screened for familial retinoblastoma: nationwide registration in the Netherlands. Br J Ophthalmol 2006;90:875–8. 10.1136/bjo.2005.08937516613925
- Soliman SE, Dimaras H, Khetan V, Gardiner JA, Chan HSL, Heon E, Gallie BL. Prenatal versus postnatal screening for familial retinoblastoma. Ophthalmology 2016;123:2610–7. 10.1016/j.ophtha.2016.08.02727712844
- Kaliki S, Maniar A, Patel A, Palkonda VAR, Mohamed A. Clinical presentation and outcome of retinoblastoma based on age at presentation: a review of 1450 children. Int Ophthalmol 2020;40:99–107. 10.1007/s10792-019-01155-z31444587
- Makitie O, Doria A, Kooh SW, Cole WG, Daneman A, Sochett E. Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 2003;88:3591–7. 10.1210/jc.2003-03003612915641
- Quinlan C, Guegan K, Offiah A, Neill RO, Hiorns MP, Ellard S, et al. Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment. Pediatr Nephrol 2012;27:581–8. 10.1007/s00467-011-2046-z22101457
- Kruse K, Hinkel GK, Griefahn B. Calcium metabolism and growth during early treatment of children with X-linked hypophosphataemic rickets. Eur J Pediatr 1998;157:894–900. 10.1007/s0043100509629835432
- Roza M, Miguel MA, Galbe M, Mejido L, Mencia C. Early treatment of familial hypophosphataemic rickets. Arch Dis Child 1983;58:1020–2. 10.1136/adc.58.12.10206689262
- Abdenur JE, Chamoles NA, Specola N, Schenone AB, Jorge L, Guinle A, et al. MCAD deficiency: acylcarnitines (AC) by tandem mass spectrometry (MS-MS) are useful to monitor dietary treatment. Adv Exp Med Biol 1999;466:353–63.10709663
- Alcaide P, Ferrer-Lopez I, Gutierrez L, Leal F, Martin-Hernandez E, Quijada-Fraile P, et al. Lymphocyte medium-chain acyl-CoA dehydrogenase activity and its potential as a diagnostic confirmation tool in newborn screening cases. J Clin Med 2022;11:2933. 10.3390/jcm1110293335629059
- Anderson DR, Viau K, Botto LD, Pasquali M, Longo N. Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 2020;129:13–9. 10.1016/j.ymgme.2019.11.00631836396
- Gong Z, Liang L, Qiu W, Zhang H, Ye J, Wang Y, et al. Clinical, biochemical, and molecular analyses of medium-chain acyl-CoA dehydrogenase deficiency in Chinese patients. Front Genet 2021;12:577046. 10.3389/fgene.2021.57704633841490
- Haas M, Chaplin M, Joy P, Wiley V, Black C, Wilcken B. Healthcare use and costs of medium-chain acyl-CoA dehydrogenase deficiency in Australia: screening versus no screening. J Pediatr 2007;151:121–6, 126.e1. 10.1016/j.jpeds.2007.03.01117643760
- Li H, Benson LA, Henderson LA, Solomon IH, Kennedy AL, Soldatos A, et al. Central nervous system-restricted familial hemophagocytic lymphohistiocytosis responds to hematopoietic cell transplantation. Blood Adv 2019;3:503–7. 10.1182/bloodadvances.201802741730760465
- Wilcken B, Haas M, Joy P, Wiley V, Chaplin M, Black C, et al. Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet 2007;369:37–42. 10.1016/S0140-6736(07)60029-417208640
- Wilcken B, Haas M, Joy P, Wiley V, Bowling F, Carpenter K, et al. Expanded newborn screening: outcome in screened and unscreened patients at age 6 years. Pediatrics 2009;124:e241–8. 10.1542/peds.2008-058619620191
- Wilson CJ, Champion MP, Collins JE, Clayton PT, Leonard JV. Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis. Arch Dis Child 1999;80:459–62. 10.1136/adc.80.5.45910208954
- Busiello R, Adriani M, Locatelli F, Galgani M, Fimiani G, Clementi R, et al. Atypical features of familial hemophagocytic lymphohistiocytosis. Blood 2004;103:4610–2. 10.1182/blood-2003-10-355114739222
- Li Y, Zhu R, Liu Y, Song J, Xu J, Yang Y. Medium-chain acyl-coenzyme A dehydrogenase deficiency: six cases in the Chinese population. Pediatr Int 2019;61:551–7. 10.1111/ped.1387231033143
- Howard C, Gorman I, Crushell E, Knerr I, Hughes J, Boruah R, et al. Medium chain acyl-CoA dehydrogenase deficiency: 3 years of newborn screening. Ir Med J 2023;116:743.37010499
- Li L, Li H, Zhang J, Gan H, Liu R, Hu X, et al. Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma. Int Ophthalmol 2022;42:3421–30. 10.1007/s10792-022-02341-235960463
- Chong SC, Law LK, Hui J, Lai CY, Leung TY, Yuen YP. Expanded newborn metabolic screening programme in Hong Kong: a three-year journey. Hong Kong Med J 2017;23:489–96. 10.12809/hkmj17627428862145
- Gramer G, Haege G, Fang-Hoffmann J, Hoffmann GF, Bartram CR, Hinderhofer K, et al. Medium-chain acyl-CoA dehydrogenase deficiency: evaluation of genotype-phenotype correlation in patients detected by newborn screening. JIMD Rep 2015;23:101–12. 10.1007/8904_2015_43925940036
- Yusupov R, Finegold DN, Naylor EW, Sahai I, Waisbren S, Levy HL. Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. Mol Genet Metab 2010;101:33–9. 10.1016/j.ymgme.2010.05.00720580581
- Joy P, Black C, Rocca A, Haas M, Wilcken B. Neuropsychological functioning in children with medium chain acyl coenzyme a dehydrogenase deficiency (MCADD): the impact of early diagnosis and screening on outcome. Child Neuropsychol 2009;15:8–20. 10.1080/0929704070186457018608229
- Hsu HW, Zytkovicz TH, Comeau AM, Strauss AW, Marsden D, Shih VE, et al. Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening. Pediatrics 2008;121:e1108–14. 10.1542/peds.2007-199318450854
- Gadoury-Levesque V, Dong L, Su R, Chen J, Zhang K, Risma KA, et al. Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders. Blood Adv 2020;4:2578–94. 10.1182/bloodadvances.202000160532542393
- Ahmari AA, Alsmadi O, Sheereen A, Elamin T, Jabr A, El-Baik L, et al. Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis. Blood Res 2021;56:86–101. 10.5045/br.2021.202030834083498
- Ruppe MD, Brosnan PG, Au KS, Tran PX, Dominguez BW, Northrup H. Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets. Clin Endocrinol (Oxf) 2011;74:312–8. 10.1111/j.1365-2265.2010.03919.x21050253
- Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A. GeneReviews® [Internet]. Seattle, WA: University of Washington; 2024. URL: www.ncbi.nlm.nih.gov/books/NBK1116/ (accessed 8 May 2023).
- NICE. Burosumab for Treating X-Linked Hypophosphataemia in Children and Young People. London: National Institute for Health and Care Excellence; 2018. URL: www.nice.org.uk/guidance/hst8 (accessed 18 March 2024).
- Coughlin CR II, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, et al. Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis 2021;44:178–92. 10.1002/jimd.1233233200442
- NHS. Clinical Commissioning Policy: Anakinra for Haemophagocytic Lymphohistiocytosis (HLH) for Adults and Children in All Ages [210701P] (1924). London: National Health Service; 2021. URL: www.england.nhs.uk/wp-content/uploads/2021/10/1924-Clinical-commissioning-policy-anakinra-for-haemophagocytic-lymphohistiocytosis-.pdf (accessed 17 March 2024).
- BIMDG. British Inherited Metabolic Disease Group. Cambridge: British Inherited Metabolic Disease Group; 2024. URL: www.bimdg.org.uk/site/index.asp (accessed 18 March 2024).
- Rothenbuhler A, Schnabel D, Högler W, Linglart A. Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH). Metabolism 2020;103S:153892. 10.1016/j.metabol.2019.03.00930928313
- Andresen BS, Lund AM, Hougaard DM, Christensen E, Gahrn B, Christensen M, et al. MCAD deficiency in Denmark. Mol Genet Metab 2012;106:175–88. 10.1016/j.ymgme.2012.03.01822542437
- Al-Nawaiseh I, Ghanem AQ, Yousef YA. Familial retinoblastoma: raised awareness improves early diagnosis and outcome. J Ophthalmol 2017;2017:5053961. 10.1155/2017/505396128348883
- Skalet AH, Gombos DS, Gallie BL, Kim JW, Shields CL, Marr BP, et al. Screening children at risk for retinoblastoma. Ophthalmology 2018;125:453–8. 10.1016/j.ophtha.2017.09.00129056300
- Green RC, Shah N, Genetti CA, Yu T, Zettler B, Uveges MK, et al.; BabySeq Project Team. Actionability of unanticipated monogenic disease risks in newborn genomic screening: findings from the BabySeq project. Am J Hum Genet 2023;110:1034–45. 10.1016/j.ajhg.2023.05.00737279760
- Green R, Shah N, Genetti C, Yu T, Zettler B, Schwartz T, et al. Medical evaluation of unanticipated monogenic disease risks identified through newborn genomic screening: findings from the BabySeq project. 2022. 10.1101/2022.03.18.22272284
- Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, et al. Interpretation of genomic sequencing results in healthy and ill newborns: results from the BabySeq project. Am J Hum Genet 2019;104:76–93. 10.1016/j.ajhg.2018.11.01630609409
- Hao C, Guo R, Hu X, Qi Z, Guo Q, Liu X, et al. Newborn screening with targeted sequencing: a multicenter investigation and a pilot clinical study in China. J Genet Genomics 2022;49:13–9. 10.1016/j.jgg.2021.08.00834474183
- Yang RL, Qian GL, Wu DW, Miao JK, Yang X, Wu BQ, et al. A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China. World J Pediatr 2023;19:663–73. 10.1007/s12519-022-00670-x36847978
- Bodian DL, Klein E, Iyer RK, Wong WSW, Kothiyal P, Stauffer D, et al. Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates. Genet Med 2016;18:221–30. 10.1038/gim.2015.11126334177
- Chen T, Fan C, Huang Y, Feng J, Zhang Y, Miao J, et al. Genomic sequencing as a first-tier screening test and outcomes of newborn screening. JAMA Netw Open 2023;6:e2331162. 10.1001/jamanetworkopen.2023.3116237656460
- Huang X, Wu D, Zhu L, Wang W, Yang R, Yang J, et al. Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates. Orphanet J Rare Dis 2022;17:66. 10.1186/s13023-022-02231-x35193651
- Jian M, Wang X, Sui Y, Fang M, Feng C, Huang Y, et al. A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China. Clin Transl Med 2022;12:e843. 10.1002/ctm2.84335665479
- Pavey AR, Bodian DL, Vilboux T, Khromykh A, Hauser NS, Huddleston K, et al. Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn. Genet Med 2017;19:1367–75. 10.1038/gim.2017.5728617419
- Balciuniene J, Liu R, Bean L, Guo F, Nallamilli BRR, Guruju N, et al. At-risk genomic findings for pediatric-onset disorders from genome sequencing vs medically actionable gene panel in proactive screening of newborns and children. JAMA Netw Open 2023;6:e2326445. 10.1001/jamanetworkopen.2023.2644537523181
- Roman TS, Crowley SB, Roche MI, Foreman AKM, O’Daniel JM, Seifert BA, et al. Genomic sequencing for newborn screening: results of the NC NEXUS project. Am J Hum Genet 2020;107:596–611. 10.1016/j.ajhg.2020.08.00132853555
- Cai L, Liu Y, Xu Y, Yang H, Lv L, Li Y, et al. Multi-center in-depth screening of neonatal deafness genes: Zhejiang, China. Front Genet 2021;12:637096. 10.3389/fgene.2021.63709634276761
- Ma Z, Huang W, Xu J, Qiu J, Liu Y, Ye M, Fan S. Analysis of deafness susceptibility gene of neonates in northern Guangdong, China. Sci Rep 2024;14:362. 10.1038/s41598-023-49530-238172182
- Ye L, Yin Y, Chen M, Gong N, Peng Y, Liu H, Miao J. Combined genetic screening and traditional newborn screening to improve the screening efficiency of congenital hypothyroidism. Front Pediatr 2023;11:1185802. 10.3389/fped.2023.118580237252044
- Luo H, Yang Y, Wang X, Xu F, Huang C, Liu D, et al. Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province. Front Pediatr 2022;10:1020519. 10.3389/fped.2022.102051936389375
- Gold NB, Harrison SM, Rowe JH, Gold J, Furutani E, Biffi A, et al. Low frequency of treatable pediatric disease alleles in gnomAD: an opportunity for future genomic screening of newborns. HGG Adv 2022;3:100059. 10.1016/j.xhgg.2021.10005935047849
- Breilyn MS, Kenny EE, Abul-Husn NS. Diverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease. Mol Genet Metab 2023;138:106971. 10.1016/j.ymgme.2022.10697136549199
- Van Nimwegen K, Vissers L, Willemsen M, Schieving J, Veltman J, Van Der Wilt G, Grutters JP. The cost-effectiveness of whole-exome sequencing in complex paediatric neurology. Value Health 2016;19:A695. 10.1016/j.jval.2016.09.1998
- Buchanan-Hughes AM, Agirrezabal I, Eddowes LA, Luheshi LM, Torok ME, Sagoo GS. A system dynamics model for the cost-effectiveness evaluation of bacterial whole-genome sequencing for monitoring outbreaks of clostridium difficile. Value Health 2015;18:A44. 10.1016/j.jval.2015.03.261
- Schieving JH. PP05.5–3064: the role of exome sequencing in daily pediatric neurology practice. Eur J Paediatr Neurol 2015;19:S47. 10.1016/S1090-3798(15)30154-9
- Towne MC, Beggs AH, Agrawal PB. Efficiency of Whole Exome/Genome Sequencing for Achieving a Diagnosis in Rare Presentations. Annual Meeting of the American Society of Human Genetics, 22–26 October 2013, Boston, MA, abstract no. 1379.
- Pankhurst LJ, Del Ojo Elias C, Votintseva AA, Walker TM, Cole K, Davies J, et al.; COMPASS-TB Study Group. Rapid, comprehensive, and affordable mycobacterial diagnosis with whole-genome sequencing: a prospective study. Lancet Resp Med 2016;4:49–58. 10.1016/S2213-2600(15)00466-X
- McDonell LM, Warman Chardon J, Schwartzentruber J, Foster D, Beaulieu CL, Majewski J, et al.; FORGE Canada Consortium. The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome. BMC Neurol 2014;14:22. 10.1186/1471-2377-14-2224479948
- Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, et al. A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat 2013;34:1721–6. 10.1002/humu.2245024123792
- Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, Smith A, Chardon JW, et al. Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat 2014;35:45–9. 10.1002/humu.2245124108619
- Dewey FE, Grove ME, Pan C, Goldstein BA, Bernstein JA, Chaib H, et al. Clinical interpretation and implications of whole-genome sequencing. JAMA 2014;311:1035–45. 10.1001/jama.2014.171724618965
- Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, et al. Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: outcomes and lessons learned. JAMA Neurol 2015;72:1424–32. 10.1001/jamaneurol.2015.227426436962
- Bonnefond A, Philippe J, Durand E, Muller J, Saeed S, Arslan M, et al. Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing. Diabet Care. 2014;37:460–7. 10.2337/dc13-0698
- Lee EJ, Dykas DJ, Leavitt AD, Camire RM, Ebberink E, García de Frutos P, et al. Whole-exome sequencing in evaluation of patients with venous thromboembolism. Blood Adv 2017;1:1224–37. 10.1182/bloodadvances.201700524929296762
- Bennette CS, Gallego CJ, Burke W, Jarvik GP, Veenstra DL. The cost-effectiveness of returning incidental findings from next-generation genomic sequencing. Genet Med 2015;17:587–95. 10.1038/gim.2014.15625394171
- Chrystoja CC, Diamandis EP. Whole genome sequencing as a diagnostic test: challenges and opportunities. Clin Chem 2014;60:724–33. 10.1373/clinchem.2013.20921324227285
- Crawford S, Gong C, Randolph LM, Yieh L, Hay JW. PIH27 diagnosing newborns with suspected severe mitochondrial disorders: a cost-effectiveness study comparing early whole exome sequencing to standard of care. Value Health 2020;23:S156. 10.1016/j.jval.2020.04.422
- Yuen T, Carter MT, Szatmari P, Ungar WJ. Cost-effectiveness of genome and exome sequencing in children diagnosed with autism spectrum disorder. Appl Health Econ Health Policy 2018;16:481–93. 10.1007/s40258-018-0390-x29651777
- Mfumbilwa ZA, Simons M, Ramaekers B, Retèl VP, Mankor JM, Groen HJM, et al. Exploring the cost effectiveness of a whole-genome sequencing-based biomarker for treatment selection in patients with advanced lung cancer ineligible for targeted therapy. PharmacoEconomics 2024;42:419–34. 10.1007/s40273-023-01344-w38194023
- Simons MJHG, Retel VP, Ramaekers BLT, Butter R, Mankor JM, Paats MS, et al. Early cost effectiveness of whole-genome sequencing as a clinical diagnostic test for patients with inoperable stage IIIB,C/IV non-squamous non-small-cell lung cancer. PharmacoEconomics 2021;39:1429–42. 10.1007/s40273-021-01073-y34405371
- Simons MJHG, Uyl-de Groot CA, Retel VP, Mankor JM, Ramaekers BLT, Joore MA, van Harten WH. Cost-effectiveness and budget impact of future developments with whole-genome sequencing for patients with lung cancer. Value Health 2023;26:71–80. 10.1016/j.jval.2022.07.00635973926
- Avram CM, Caughey AB, Norton ME, Sparks TN. Cost-effectiveness of exome sequencing versus targeted gene panels for prenatal diagnosis of fetal effusions and non-immune hydrops fetalis. Am J Obstetr Gynecol 2022;4:100724. 10.1016/j.ajogmf.2022.100724
- Wu Y, Jayasinghe K, Stark Z, Quinlan C, Patel C, McCarthy H, et al.; KidGen Collaborative Investigators. Genomic testing for suspected monogenic kidney disease in children and adults: a health economic evaluation. Genet Med 2023;25:100942. 10.1016/j.gim.2023.10094237489581
- Sanford Kobayashi E, Waldman B, Engorn BM, Perofsky K, Allred E, Briggs B, et al. Cost efficacy of rapid whole genome sequencing in the pediatric intensive care unit. Front Pediatr 2021;9:809536. 10.3389/fped.2021.80953635141181
- Stark Z, Schofield D, Martyn M, Rynehart L, Shrestha R, Alam K, et al. Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness. Genet Med 2019;21:173–80. 10.1038/s41436-018-0006-829765138
- Stark Z, Schofield D, Alam K, Wilson W, Mupfeki N, Macciocca I, et al. Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement. Genet Med 2017;19:867–74. 10.1038/gim.2016.22128125081
- Schofield D, Rynehart L, Shresthra R, White SM, Stark Z. Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes. Genet Med 2019; 21:2586–93. 10.1038/s41436-019-0534-x31110331
- Lavelle TA, Feng X, Keisler M, Cohen JT, Neumann PJ, Prichard D, et al. Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions. Genet Med 2022;24:1349–61. 10.1016/j.gim.2022.03.00535396982
- Nurchis MC, Radio FC, Salmasi L, Heidar Alizadeh A, Raspolini GM, Altamura G, et al. Bayesian cost-effectiveness analysis of whole genome sequencing versus whole exome sequencing in a pediatric population with suspected genetic disorders. Eur J Health Econ 2023;25:999–1011. 10.1007/s10198-023-01644-037975990
- Nurchis MC, Radio FC, Salmasi L, Heidar Alizadeh A, Raspolini GM, Altamura G, et al. Cost-effectiveness of whole-genome vs whole-exome sequencing among children with suspected genetic disorders. JAMA Netw Open 2024;7:e2353514. 10.1001/jamanetworkopen.2023.5351438277144
- Oerton J, Khalid JM, Besley G, Dalton RN, Downing M, Green A, et al. Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies. J Med Screen 2011;18:173–81. 10.1258/jms.2011.01108622166308
- International Consortium on Newborn Sequencing (ICoNS). We Are ICoNS the International Consortium on Newborn Sequencing. London: ICoNS; 2024. URL: www.iconseq.org/ (accessed 14 May 2024).
- Downie L, Bouffler SE, Amor DJ, Christodoulou J, Yeung A, Horton AE, et al. Gene selection for genomic newborn screening: moving toward consensus? Genet Med 2024;26:101077. 10.1016/j.gim.2024.10107738275146
- Horton R, Lucassen A. Ethical issues raised by new genomic technologies: the case study of newborn genome screening. Camb Prisms Precis Med 2022;1:1–16. 10.1017/pcm.2022.2
- Turnbull C, Firth HV, Wilkie AOM, Newman W, Raymond FL, Tomlinson I, et al. Population screening requires robust evidence – genomics is no exception. Lancet 2024;403:583–6. 10.1016/S0140-6736(23)02295-X38070525
- Jackson L, Weedon MN, Green HD, Mallabar-Rimmer B, Harrison JW, Wood AR, et al. Influence of family history on penetrance of hereditary cancers in a population setting. EClinicalMedicine 2023;64:102159. 10.1016/j.eclinm.2023.10215937936660
- Horton R, Wright CF, Firth HV, Turnbull C, Lachmann R, Houlston RS, Lucassen A. Challenges of using whole genome sequencing in population newborn screening. BMJ 2024;384:e077060. 10.1136/bmj-2023-07706038443063
- Kinsella S, Hopkins H, Cooper L, Bonham JR. A public dialogue to inform the use of wider genomic testing when used as part of newborn screening to identify cystic fibrosis. Int J Neonatal Screen 2022;8:32. 10.3390/ijns802003235645286
- Clark CCA, Boardman FK. Expanding the notion of ‘benefit’: comparing public, parent, and professional attitudes towards whole genome sequencing in newborns. New Genet Soc 2022;41:96–115. 10.1080/14636778.2022.2091533
- Chudleigh J, Holder P, Clark C, Moody L, Cowlard J, Allen L, et al. Parents’ and childrens’ views of wider genomic testing when used as part of newborn screening to identify cystic fibrosis. SSM Qual Res Health 2024;6:100455. 10.1016/j.ssmqr.2024.100455
- Pearce A, Mitchell LA, Best S, Young MA, Terrill B. Publics’ knowledge of, attitude to and motivation towards health-related genomics: a scoping review. Eur J Hum Genet 2024;32:747–58. 10.1038/s41431-024-01547-538316954
- Hopkins H, Kinsella S, Evans G. Implications of Whole Genome Sequencing for Newborn Screening – A Public Dialogue: A Findings Report Hopkins Van Mil July 2021. London: UK National Screening Committee; 2021. URL: www.gov.uk/government/publications/implications-of-whole-genome-sequencing-for-newborn-screening (accessed 15 February 2024).
- Etchegary H, Winsor M, Power A, Simmonds C. Public engagement with genomic medicine: a summary of town hall discussions. J Commun Genet 2021;12:27–35. 10.1007/s12687-020-00485-1
- Werner KM. The gender gap in caring for children with medical complexity. J Perinatol 2023;43:835–6. 10.1038/s41372-023-01652-136964205
- Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, et al. The role of exome sequencing in newborn screening for inborn errors of metabolism. Nat Med 2020;26:1392–7. 10.1038/s41591-020-0966-532778825
- Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, et al. Clinical effectiveness of newborn screening for spinal muscular atrophy: a nonrandomized controlled trial. JAMA Pediatr 2024;178:540–7. 10.1001/jamapediatrics.2024.049238587854
- University of York Centre for Reviews and Dissemination. DARE and NHS EED Archives Secure on CRD Website until At Least the End of March 2024. 2024. URL: www.crd.york.ac.uk/CRDWeb/ (accessed 30 May 2024).
- CADTH. CADTH Search Filters Database. Ottawa, ON: Canadian Agency for Drugs and Technologies in Health; 2024. URL: https://searchfilters.cadth.ca/link/16 (accessed 17 May 2024).
- Zhang Y, Wei WB, Zhao J, Xu X, Wang F. Spectrum and tissue distribution of RB1 pathogenic alleles in mosaic retinoblastoma patients. Ophthalmic Genet 2022;43:795–805. 10.1080/13816810.2022.209898535938543
- Coughlin CR II, van Karnebeek CDM, Al-Hertani W, Shuen AY, Jaggumantri S, Jack RM, et al. Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: neurodevelopmental outcome. Mol Genet Metab 2015;116:35–43. 10.1016/j.ymgme.2015.05.01126026794
- Alfadhel M, Sirrs S, Waters PJ, Szeitz A, Struys E, Coulter-Mackie M, Stockler-Ipsiroglu S. Variability of phenotype in two sisters with pyridoxine dependent epilepsy. Can J Neurol Sci 2012;39:516–9. 10.1017/s031716710001405022728861
- Marguet F, Barakizou H, Tebani A, Abily-Donval L, Torre S, Bayoudh F, et al. Pyridoxine-dependent epilepsy: report on three families with neuropathology. Metab Brain Dis 2016;31:1435–43. 10.1007/s11011-016-9869-z27438048
- Rankin PM, Harrison S, Chong WK, Boyd S, Aylett SE. Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime. Dev Med Child Neurol 2007;49:300–5. 10.1111/j.1469-8749.2007.00300.x17376142
- Yeghiazaryan NS, Striano P, Spaccini L, Pezzella M, Cassandrini D, Zara F, Mastrangelo M. Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation. Eur J Paediatr Neurol 2011;15:547–50. 10.1016/j.ejpn.2011.05.01121733724
- Ulvi H, Mungen B, Yakinci C, Yoldas T. Pyridoxine-dependent seizures: long-term follow-up of two cases with clinical and MRI findings, and pyridoxine treatment. J Trop Pediatr 2002;48:303–6. 10.1093/tropej/48.5.30312405174
- Tseng LA, Hoytema van Konijnenburg EMM, Longo N, Andrews A, van Wegberg A, Coene KLM, et al. Clinical reasoning: pediatric seizures of unknown cause. Neurology 2022;98:1023–8. 10.1212/wnl.000000000020071135470136
- Busiello R, Galgani M, De Fusco C, Poggi V, Adriani M, Racioppi L, et al. Role of A91V mutation in perforin gene in hemophagocytic lymphohistiocytosis. Blood 2004;104:1910.15342365
Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews · References
References
Attribution. Karoline Freeman; Jacqueline Dinnes; Bethany Shinkins; Corinna Clark; Inès Kander; Katie Scandrett et al. (2025). Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews. National Institute for Health and Care Research. Copyright © 2025 Freeman et al. Licensed under CC BY 4.0. NCBI Bookshelf NBK619683. CC BY 4.0. Original source ↗. Text reproduced from the Bookshelf XML without changing wording; figures, images and supplements are not reproduced.