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For: Berg JS, Agrawal PB, Bailey DB Jr, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics 2017;139:e20162252. [PMID: 28096516 DOI: 10.1542/peds.2016-2252] [Cited by in Crossref: 93] [Cited by in F6Publishing: 78] [Article Influence: 18.6] [Reference Citation Analysis]
Number Citing Articles
1 Bush L, Davidson H, Gelles S, Lea D, Koehly LM. Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs. IJNS 2022;8:35. [DOI: 10.3390/ijns8020035] [Reference Citation Analysis]
2 Moultrie RR, Paquin R, Rini C, Roche MI, Berg JS, Powell CM, Lewis MA. Parental Views on Newborn Next Generation Sequencing: Implications for Decision Support. Matern Child Health J 2020;24:856-64. [PMID: 32424581 DOI: 10.1007/s10995-020-02953-z] [Reference Citation Analysis]
3 Peinado S, Paquin RS, Rini C, Roche M, Butterfield RM, Berg JS, Powell CM, Bailey DB, Lewis MA. Values clarification and parental decision making about newborn genomic sequencing. Health Psychol 2020;39:335-44. [PMID: 31886693 DOI: 10.1037/hea0000829] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 1.3] [Reference Citation Analysis]
4 Elliott AM, du Souich C, Lehman A, Guella I, Evans DM, Candido T, Tooman L, Armstrong L, Clarke L, Gibson W, Gill H, Lavoie PM, Lewis S, Mckinnon ML, Nikkel SM, Patel M, Solimano A, Synnes A, Ting J, van Allen M, Christilaw J, Farrer MJ, Friedman JM, Osiovich H. RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges. Eur J Pediatr 2019;178:1207-18. [DOI: 10.1007/s00431-019-03399-4] [Cited by in Crossref: 21] [Cited by in F6Publishing: 17] [Article Influence: 7.0] [Reference Citation Analysis]
5 Bush WS, Cooke Bailey JN, Beno MF, Crawford DC. Bridging the Gaps in Personalized Medicine Value Assessment: A Review of the Need for Outcome Metrics across Stakeholders and Scientific Disciplines. Public Health Genomics 2019;22:16-24. [PMID: 31454805 DOI: 10.1159/000501974] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
6 Stark Z, Dolman L, Manolio TA, Ozenberger B, Hill SL, Caulfied MJ, Levy Y, Glazer D, Wilson J, Lawler M, Boughtwood T, Braithwaite J, Goodhand P, Birney E, North KN. Integrating Genomics into Healthcare: A Global Responsibility. Am J Hum Genet 2019;104:13-20. [PMID: 30609404 DOI: 10.1016/j.ajhg.2018.11.014] [Cited by in Crossref: 177] [Cited by in F6Publishing: 136] [Article Influence: 59.0] [Reference Citation Analysis]
7 La Cognata V, Guarnaccia M, Polizzi A, Ruggieri M, Cavallaro S. Highlights on Genomics Applications for Lysosomal Storage Diseases. Cells 2020;9:E1902. [PMID: 32824006 DOI: 10.3390/cells9081902] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
8 French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Mégy K, Abbs S, Austin T, Bowdin S, Branco RG, Firth H, Rowitch DH, Raymond FL; NIHR BioResource—Rare Disease., Next Generation Children Project. Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children. Intensive Care Med 2019;45:627-36. [PMID: 30847515 DOI: 10.1007/s00134-019-05552-x] [Cited by in Crossref: 64] [Cited by in F6Publishing: 57] [Article Influence: 21.3] [Reference Citation Analysis]
9 Downie L, Halliday J, Lewis S, Amor DJ. Principles of Genomic Newborn Screening Programs: A Systematic Review. JAMA Netw Open 2021;4:e2114336. [PMID: 34283230 DOI: 10.1001/jamanetworkopen.2021.14336] [Reference Citation Analysis]
10 Huang X, Wu D, Zhu L, Wang W, Yang R, Yang J, He Q, Zhu B, You Y, Xiao R, Zhao Z. Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates. Orphanet J Rare Dis 2022;17:66. [PMID: 35193651 DOI: 10.1186/s13023-022-02231-x] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
11 Powell SN, Byfield G, Bennetone A, Frantz AM, Harrison LK, James-crook ER, Osborne H, Owens TH, Shaw JL, O’daniel J, Milko LV. Parental Guidance Suggested: Engaging Parents as Partners in Research Studies of Genomic Screening for a Pediatric Population. Front Genet 2022;13:867030. [DOI: 10.3389/fgene.2022.867030] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
12 DeCristo DM, Milko LV, O'Daniel JM, Foreman AKM, Mollison LF, Powell BC, Powell CM, Berg JS. Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making. Genome Med 2021;13:50. [PMID: 33781310 DOI: 10.1186/s13073-021-00867-1] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
13 Parad RB, Kaler SG, Mauceli E, Sokolsky T, Yi L, Bhattacharjee A. Targeted next generation sequencing for newborn screening of Menkes disease. Mol Genet Metab Rep 2020;24:100625. [PMID: 32714836 DOI: 10.1016/j.ymgmr.2020.100625] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
14 Remec ZI, Trebusak Podkrajsek K, Repic Lampret B, Kovac J, Groselj U, Tesovnik T, Battelino T, Debeljak M. Next-Generation Sequencing in Newborn Screening: A Review of Current State. Front Genet 2021;12:662254. [PMID: 34122514 DOI: 10.3389/fgene.2021.662254] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
15 Cabello JF, Novoa F, Huff HV, Colombo M. Expanded Newborn Screening and Genomic Sequencing in Latin America and the Resulting Social Justice and Ethical Considerations. Int J Neonatal Screen 2021;7:6. [PMID: 33494287 DOI: 10.3390/ijns7010006] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
16 Fleige T, Burggraf S, Czibere L, Häring J, Glück B, Keitel LM, Landt O, Harms E, Hohenfellner K, Durner J, Röschinger W, Becker M. Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis. Eur J Hum Genet 2020;28:193-201. [PMID: 31570786 DOI: 10.1038/s41431-019-0521-3] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
17 Burns BL, Bilkey GA, Coles EP, Bowman FL, Beilby JP, Pachter NS, Baynam G, Dawkins HJS, Weeramanthri TS, Nowak KJ. Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus. Front Public Health 2019;7:41. [PMID: 30915324 DOI: 10.3389/fpubh.2019.00041] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.7] [Reference Citation Analysis]
18 Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. Am J Hum Genet 2017;100:695-705. [PMID: 28475856 DOI: 10.1016/j.ajhg.2017.04.003] [Cited by in Crossref: 206] [Cited by in F6Publishing: 170] [Article Influence: 41.2] [Reference Citation Analysis]
19 Smith EE, du Souich C, Dragojlovic N, Elliott AM; CAUSES Study, RAPIDOMICS Study. Genetic counseling considerations with rapid genome-wide sequencing in a neonatal intensive care unit. J Genet Couns 2019;28:263-72. [DOI: 10.1002/jgc4.1074] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 3.8] [Reference Citation Analysis]
20 Chan K, Petros M. Simple Test, Complex System: Multifaceted Views of Newborn Screening Science, Technology, and Policy. Glob Pediatr Health 2019;6:2333794X19894812. [PMID: 31903414 DOI: 10.1177/2333794X19894812] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
21 Gallant NM, Leydiker K, Wilnai Y, Lee C, Lorey F, Feuchtbaum L, Tang H, Carter J, Enns GM, Packman S, Lin HJ, Wilcox WR, Cederbaum SD, Abdenur JE. Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California. Mol Genet Metab 2017;122:76-84. [PMID: 28711408 DOI: 10.1016/j.ymgme.2017.06.015] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 2.2] [Reference Citation Analysis]
22 Hao C, Guo R, Hu X, Qi Z, Guo Q, Liu X, Liu Y, Sun Y, Zhang X, Jin F, Wu X, Cai R, Zeng D, Hu X, Wang X, Ji X, Li W, Xing Q, Mu L, Jiang X, Yang X, Yang W, Zhang Y, Yin Q, Ni X, Li W. Newborn screening with targeted sequencing: a multicenter investigation and a pilot clinical study in China. J Genet Genomics 2021:S1673-8527(21)00280-0. [PMID: 34474183 DOI: 10.1016/j.jgg.2021.08.008] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
23 Char DS, Lee SS, Magnus D, Cho M. Anticipating uncertainty and irrevocable decisions: provider perspectives on implementing whole-genome sequencing in critically ill children with heart disease. Genet Med 2018;20:1455-61. [PMID: 29493583 DOI: 10.1038/gim.2018.25] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 2.3] [Reference Citation Analysis]
24 Ruiz-Schultz N, Asay B, Rohrwasser A. Scalable Newborn Screening Solutions: Bioinformatics and Next-Generation Sequencing. Int J Neonatal Screen 2021;7:63. [PMID: 34698050 DOI: 10.3390/ijns7040063] [Reference Citation Analysis]
25 Smith HS, Morain SR, Robinson JO, Canfield I, Malek J, Rubanovich CK, Bloss CS, Ackerman SL, Biesecker B, Brothers KB, Goytia CN, Horowitz CR, Knight SJ, Koenig B, Kraft SA, Outram S, Rini C, Shipman KJ, Waltz M, Wilfond B, McGuire AL. Perceived Utility of Genomic Sequencing: Qualitative Analysis and Synthesis of a Conceptual Model to Inform Patient-Centered Instrument Development. Patient 2021. [PMID: 34658003 DOI: 10.1007/s40271-021-00558-4] [Reference Citation Analysis]
26 Rehm HL. Evolving health care through personal genomics. Nat Rev Genet 2017;18:259-67. [PMID: 28138143 DOI: 10.1038/nrg.2016.162] [Cited by in Crossref: 58] [Cited by in F6Publishing: 48] [Article Influence: 11.6] [Reference Citation Analysis]
27 Luo X, Sun Y, Xu F, Guo J, Li L, Lin Z, Ye J, Gu X, Yu Y. A pilot study of expanded newborn screening for 573 genes related to severe inherited disorders in China: results from 1,127 newborns. Ann Transl Med 2020;8:1058. [PMID: 33145277 DOI: 10.21037/atm-20-1147] [Reference Citation Analysis]
28 Sen K, Harmon J, Gropman AL. Select Ethical Aspects of Next-Generation Sequencing Tests for Newborn Screening and Diagnostic Evaluation of Critically Ill Newborns. Int J Neonatal Screen 2021;7:76. [PMID: 34842609 DOI: 10.3390/ijns7040076] [Reference Citation Analysis]
29 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. [PMID: 34350142 DOI: 10.3389/fped.2021.663752] [Reference Citation Analysis]
30 Nisselle A, Bishop M, Charles T, Morrissy S, King E, Metcalfe S, Gaff C. Lessons learnt from implementing change in newborn bloodspot screening processes over more than a decade: Midwives, genetics and education. Midwifery 2019;79:102542. [PMID: 31569029 DOI: 10.1016/j.midw.2019.102542] [Reference Citation Analysis]
31 Hightower RM, Alexander MS. Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies. Muscle Nerve 2018;57:6-15. [PMID: 28877560 DOI: 10.1002/mus.25953] [Cited by in Crossref: 21] [Cited by in F6Publishing: 13] [Article Influence: 4.2] [Reference Citation Analysis]
32 van der Burg M, Mahlaoui N, Gaspar HB, Pai SY. Universal Newborn Screening for Severe Combined Immunodeficiency (SCID). Front Pediatr 2019;7:373. [PMID: 31620409 DOI: 10.3389/fped.2019.00373] [Cited by in Crossref: 29] [Cited by in F6Publishing: 28] [Article Influence: 9.7] [Reference Citation Analysis]
33 McCabe ERB. Newborn screening system: Safety, technology, advocacy. Mol Genet Metab 2021:S1096-7192(21)00754-X. [PMID: 34384699 DOI: 10.1016/j.ymgme.2021.07.003] [Reference Citation Analysis]
34 Kingsmore SF, Cakici JA, Clark MM, Gaughran M, Feddock M, Batalov S, Bainbridge MN, Carroll J, Caylor SA, Clarke C, Ding Y, Ellsworth K, Farnaes L, Hildreth A, Hobbs C, James K, Kint CI, Lenberg J, Nahas S, Prince L, Reyes I, Salz L, Sanford E, Schols P, Sweeney N, Tokita M, Veeraraghavan N, Watkins K, Wigby K, Wong T, Chowdhury S, Wright MS, Dimmock D; RCIGM Investigators. A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants. Am J Hum Genet 2019;105:719-33. [PMID: 31564432 DOI: 10.1016/j.ajhg.2019.08.009] [Cited by in Crossref: 116] [Cited by in F6Publishing: 92] [Article Influence: 38.7] [Reference Citation Analysis]
35 Shieh JTC. Genomic Sequencing Expansion and Incomplete Penetrance. Pediatrics 2019;143:S22-6. [PMID: 30600267 DOI: 10.1542/peds.2018-1099E] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
36 Wadon M, Modi N, Wong HS, Thapar A, O'Donovan MC. Recent advances in the genetics of preterm birth. Ann Hum Genet 2020;84:205-13. [PMID: 31853956 DOI: 10.1111/ahg.12373] [Cited by in Crossref: 2] [Cited by in F6Publishing: 5] [Article Influence: 0.7] [Reference Citation Analysis]
37 Schleif WS, Harlan RS, Hamblin F, Amankwah EK, Goldenberg NA, Hernandez RG, Johnson SB, Reed S, Graham DR. Defining the Healthy Infant Metabolome: Liquid Chromatography Tandem-Mass Spectrometry Analysis of Dried Blood Spot Extracts from the Prospective Research on Early Determinants of Illness and Children's Health Trajectories Birth Cohort Study. J Pediatr 2021:S0022-3476(21)00964-1. [PMID: 34626671 DOI: 10.1016/j.jpeds.2021.09.061] [Reference Citation Analysis]
38 Downie L, Halliday J, Lewis S, Lunke S, Lynch E, Martyn M, Gaff C, Jarmolowicz A, Amor DJ. Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project. Genet Med 2020;22:937-44. [PMID: 31974413 DOI: 10.1038/s41436-019-0745-1] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
39 Swaggart KA, Swarr DT, Tolusso LK, He H, Dawson DB, Suhrie KR. Making a Genetic Diagnosis in a Level IV Neonatal Intensive Care Unit Population: Who, When, How, and at What Cost? J Pediatr 2019;213:211-217.e4. [PMID: 31255390 DOI: 10.1016/j.jpeds.2019.05.054] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
40 Dimmock DP, Clark MM, Gaughran M, Cakici JA, Caylor SA, Clarke C, Feddock M, Chowdhury S, Salz L, Cheung C, Bird LM, Hobbs C, Wigby K, Farnaes L, Bloss CS, Kingsmore SF; RCIGM Investigators. An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm. Am J Hum Genet 2020;107:942-52. [PMID: 33157007 DOI: 10.1016/j.ajhg.2020.10.003] [Cited by in Crossref: 37] [Cited by in F6Publishing: 29] [Article Influence: 18.5] [Reference Citation Analysis]
41 Uveges MK, Holm IA. Current Trends in Genetics and Neonatal Care. Adv Neonatal Care 2021;21:473-81. [PMID: 33538495 DOI: 10.1097/ANC.0000000000000834] [Reference Citation Analysis]
42 O'Connell AE. Primary Immunodeficiency in the NICU. Neoreviews 2019;20:e67-78. [PMID: 31261087 DOI: 10.1542/neo.20-2-e67] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
43 Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH; BabySeq Project Team. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. Am J Hum Genet 2019;104:76-93. [PMID: 30609409 DOI: 10.1016/j.ajhg.2018.11.016] [Cited by in Crossref: 84] [Cited by in F6Publishing: 73] [Article Influence: 28.0] [Reference Citation Analysis]
44 Blom M, Bredius RGM, van der Burg M. Future Perspectives of Newborn Screening for Inborn Errors of Immunity. Int J Neonatal Screen 2021;7:74. [PMID: 34842618 DOI: 10.3390/ijns7040074] [Reference Citation Analysis]
45 Baker M, Griggs R, Byrne B, Connolly AM, Finkel R, Grajkowska L, Haidet-phillips A, Hagerty L, Ostrander R, Orlando L, Swoboda K, Watson M, Howell RR. Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps. JAMA Neurol 2019;76:978. [DOI: 10.1001/jamaneurol.2019.1206] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 4.0] [Reference Citation Analysis]
46 Schwartz TS, Christensen KD, Uveges MK, Waisbren SE, McGuire AL, Pereira S, Robinson JO, Beggs AH, Green RC, Bachmann GA, Rabson AB, Holm IA; BabySeq Project Team. Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression. J Genet Couns 2021. [PMID: 34309124 DOI: 10.1002/jgc4.1475] [Reference Citation Analysis]
47 Myers MF, Martin LJ, Prows CA. Adolescents' and Parents' Genomic Testing Decisions: Associations With Age, Race, and Sex. J Adolesc Health 2020;66:288-95. [PMID: 31685375 DOI: 10.1016/j.jadohealth.2019.08.028] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 2.3] [Reference Citation Analysis]
48 Hoshitsuki K, Fernandez CA, Yang JJ. Pharmacogenomics for Drug Dosing in Children: Current Use, Knowledge, and Gaps. J Clin Pharmacol 2021;61 Suppl 1:S188-92. [PMID: 34185912 DOI: 10.1002/jcph.1891] [Reference Citation Analysis]
49 Wang H, Page R, Lopez D, Arkatkar S, Young C, Martinez D, Robbins-Furman P, Montalvo-Liendo N, Chen LS. Pregnant Latinas' views of adopting exome sequencing into newborn screening: A qualitative study. Genet Med 2022:S1098-3600(22)00741-9. [PMID: 35579624 DOI: 10.1016/j.gim.2022.04.012] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
50 Chaudhari BP, Ho M. Congenital brain malformations: an integrated diagnostic approach. Seminars in Pediatric Neurology 2022. [DOI: 10.1016/j.spen.2022.100973] [Reference Citation Analysis]
51 King J, Ludvigsson J, Hammarström L. Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future. IJNS 2017;3:19. [DOI: 10.3390/ijns3030019] [Cited by in Crossref: 10] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
52 Petrikin JE, Cakici JA, Clark MM, Willig LK, Sweeney NM, Farrow EG, Saunders CJ, Thiffault I, Miller NA, Zellmer L, Herd SM, Holmes AM, Batalov S, Veeraraghavan N, Smith LD, Dimmock DP, Leeder JS, Kingsmore SF. The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants. NPJ Genom Med 2018;3:6. [PMID: 29449963 DOI: 10.1038/s41525-018-0045-8] [Cited by in Crossref: 78] [Cited by in F6Publishing: 69] [Article Influence: 19.5] [Reference Citation Analysis]
53 Chapman R, Likhanov M, Selita F, Zakharov I, Smith-Woolley E, Kovas Y. New literacy challenge for the twenty-first century: genetic knowledge is poor even among well educated. J Community Genet 2019;10:73-84. [PMID: 29589204 DOI: 10.1007/s12687-018-0363-7] [Cited by in Crossref: 36] [Cited by in F6Publishing: 24] [Article Influence: 9.0] [Reference Citation Analysis]
54 Grody WW. The transformation of medical genetics by clinical genomics: hubris meets humility. Genet Med 2019;21:1916-26. [PMID: 30842646 DOI: 10.1038/s41436-019-0450-0] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 1.7] [Reference Citation Analysis]
55 King JR, Hammarström L. Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice. J Clin Immunol 2018;38:56-66. [PMID: 29116556 DOI: 10.1007/s10875-017-0455-x] [Cited by in Crossref: 54] [Cited by in F6Publishing: 47] [Article Influence: 10.8] [Reference Citation Analysis]
56 King JR, Notarangelo LD, Hammarström L. An appraisal of the Wilson & Jungner criteria in the context of genomic-based newborn screening for inborn errors of immunity. J Allergy Clin Immunol 2021;147:428-38. [PMID: 33551024 DOI: 10.1016/j.jaci.2020.12.633] [Reference Citation Analysis]
57 Holm IA, McGuire A, Pereira S, Rehm H, Green RC, Beggs AH; BabySeq Project Team. Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project. Pediatrics 2019;143:S37-43. [PMID: 30600270 DOI: 10.1542/peds.2018-1099H] [Cited by in Crossref: 13] [Cited by in F6Publishing: 9] [Article Influence: 4.3] [Reference Citation Analysis]
58 Bailey DB Jr. A Window of Opportunity for Newborn Screening. Mol Diagn Ther 2022;26:253-61. [PMID: 35507129 DOI: 10.1007/s40291-022-00590-6] [Reference Citation Analysis]
59 Liu F, Bao LS, Liang RJ, Zhao XY, Li Z, Du ZF, Lv SG. Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study. J Cell Mol Med 2021;25:4099-109. [PMID: 33611823 DOI: 10.1111/jcmm.16379] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
60 Gaitskell K. Personalised Medicine Approaches to Screening and Prevention. New Bioeth 2017;23:21-9. [PMID: 28517984 DOI: 10.1080/20502877.2017.1314884] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 0.8] [Reference Citation Analysis]
61 Lantos JD. Sources of Unease About the Use of Genome Sequencing for Diagnosing Rare Diseases in Children. The Journal of Pediatrics 2021;237:13-5. [DOI: 10.1016/j.jpeds.2021.06.042] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
62 Ferket BS, Baldwin Z, Murali P, Pai A, Mittendorf KF, Russell HV, Chen F, Lynch FL, Lich KH, Hindorff LA, Savich R, Slavotinek A, Smith HS, Gelb BD, Veenstra DL. Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods. Genet Med 2022:S1098-3600(22)00813-9. [PMID: 35833928 DOI: 10.1016/j.gim.2022.06.004] [Reference Citation Analysis]
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