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For: Smith HS, Swint JM, Lalani SR, Yamal JM, de Oliveira Otto MC, Castellanos S, Taylor A, Lee BH, Russell HV. Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature. Genet Med 2019;21:3-16. [PMID: 29760485 DOI: 10.1038/s41436-018-0024-6] [Cited by in Crossref: 41] [Cited by in F6Publishing: 38] [Article Influence: 10.3] [Reference Citation Analysis]
Number Citing Articles
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11 Yu JH, Appelbaum PS, Brothers KB, Joffe S, Kauffman TL, Koenig BA, Prince AE, Scollon S, Wolf SM, Bernhardt BA, Wilfond BS; Clinical Sequencing Exploratory Research (CSER) Consortium Informed Consent and Governance Working Group. Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium. Per Med 2019;16:325-33. [PMID: 31313633 DOI: 10.2217/pme-2018-0076] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.7] [Reference Citation Analysis]
12 Liston EJ, Kalbfleisch KJ, Stanley KJ, Chaturvedi RR, Cohn I, Farncombe KM, Hayeems RZ, Schwartz ML, Somerville CB, Kim RH, Jobling RK. A Model for the Integration of Genome Sequencing into a Paediatric Cardiology Clinic. Canadian Journal of Cardiology 2022. [DOI: 10.1016/j.cjca.2022.04.015] [Reference Citation Analysis]
13 Olde Keizer RACM, Marouane A, Deden AC, van Zelst-Stams WAG, de Boode WP, Keusters WR, Henneman L, van Amstel JKP, Frederix GWJ, Vissers LELM. Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis. Eur J Med Genet 2022;:104467. [PMID: 35240323 DOI: 10.1016/j.ejmg.2022.104467] [Reference Citation Analysis]
14 Zheng H, Zeng Z, Wen H, Wang P, Huang C, Huang P, Chen Q, Gong D, Qiu X. Application of Genome-Wide Association Studies in Coronary Artery Disease. Curr Pharm Des 2019;25:4274-86. [PMID: 31692429 DOI: 10.2174/1381612825666191105125148] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
15 Manickam K, McClain MR, Demmer LA, Biswas S, Kearney HM, Malinowski J, Massingham LJ, Miller D, Yu TW, Hisama FM; ACMG Board of Directors. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2021. [PMID: 34211152 DOI: 10.1038/s41436-021-01242-6] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
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17 Stevens Smith H, Russell HV, Lee BH, Morain SR; and the Value of Exome Sequencing Delphi Panel. Using the Delphi method to identify clinicians’ perceived importance of pediatric exome sequencing results. Genet Med 2020;22:69-76. [DOI: 10.1038/s41436-019-0601-3] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
18 Kosaki R, Kubota M, Uehara T, Suzuki H, Takenouchi T, Kosaki K. Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes. Am J Med Genet A 2020;182:1601-7. [PMID: 32369273 DOI: 10.1002/ajmg.a.61589] [Reference Citation Analysis]
19 Shickh S, Mighton C, Uleryk E, Pechlivanoglou P, Bombard Y. The clinical utility of exome and genome sequencing across clinical indications: a systematic review. Hum Genet 2021. [PMID: 34368901 DOI: 10.1007/s00439-021-02331-x] [Reference Citation Analysis]
20 Smith HS, Brothers KB, Knight SJ, Ackerman SL, Rini C, Veenstra DL, McGuire AL, Wilfond BS, Malek J. Conceptualization of utility in translational clinical genomics research. Am J Hum Genet 2021;108:2027-36. [PMID: 34687653 DOI: 10.1016/j.ajhg.2021.08.013] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
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22 Marinakis NM, Svingou M, Veltra D, Kekou K, Sofocleous C, Tilemis FN, Kosma K, Tsoutsou E, Fryssira H, Traeger-Synodinos J. Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. Am J Med Genet A 2021;185:2561-71. [PMID: 34008892 DOI: 10.1002/ajmg.a.62338] [Reference Citation Analysis]
23 Cloney T, Gallacher L, Pais LS, Tan NB, Yeung A, Stark Z, Brown NJ, McGillivray G, Delatycki MB, de Silva MG, Downie L, Stutterd CA, Elliott J, Compton AG, Lovgren A, Oertel R, Francis D, Bell KM, Sadedin S, Lim SC, Helman G, Simons C, Macarthur DG, Thorburn DR, O'Donnell-Luria AH, Christodoulou J, White SM, Tan TY. Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program. J Med Genet 2021:jmedgenet-2021-107902. [PMID: 34740920 DOI: 10.1136/jmedgenet-2021-107902] [Reference Citation Analysis]
24 Harvey S, King MD, Gorman KM. Paroxysmal Movement Disorders. Front Neurol 2021;12:659064. [PMID: 34177764 DOI: 10.3389/fneur.2021.659064] [Reference Citation Analysis]
25 Ortega-Pinazo J, Díaz T, Martínez B, Jiménez A, Pinto-Medel MJ, Ferro P. Quality assessment on the long-term cryopreservation and nucleic acids extraction processes implemented in the andalusian public biobank. Cell Tissue Bank 2019;20:255-65. [PMID: 30903409 DOI: 10.1007/s10561-019-09764-9] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
26 Smith HS, Swint JM, Lalani SR, de Oliveira Otto MC, Yamal JM, Russell HV, Lee BH. Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions. Genet Med 2020;22:1303-10. [PMID: 32336750 DOI: 10.1038/s41436-020-0798-1] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
27 Lewis C, Buchanan J, Clarke A, Clement E, Friedrich B, Hastings-ward J, Hill M, Horn R, Lucassen AM, Patch C, Pickard A, Roberts L, Sanderson SC, Wynn SL, Vindrola-padros C, Lakhanpaul M. Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol. NIHR Open Res 2021;1:23. [DOI: 10.3310/nihropenres.13236.2] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
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33 Simpson BN, Khattar D, Saal H, Prada CE, Choo D, Marcheschi L, Wiley S, Hopkin RJ. CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia. Eur J Med Genet 2021;64:104103. [PMID: 33189935 DOI: 10.1016/j.ejmg.2020.104103] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
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45 Brockman DG, Austin-Tse CA, Pelletier RC, Harley C, Patterson C, Head H, Leonard CE, O'Brien K, Mahanta LM, Lebo MS, Lu CY, Natarajan P, Khera AV, Aragam KG, Kathiresan S, Rehm HL, Udler MS. Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test. Genet Med 2021. [PMID: 33976420 DOI: 10.1038/s41436-021-01193-y] [Reference Citation Analysis]