Next generation sequencing in neonatology: what does it mean for the next generation?
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00439-022-02438-9.pdf
Reference20 articles.
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2. Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM (2011) CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet 48(5):334–342
3. Cakici JA, Dimmock DP, Caylor SA, Gaughran M, Clarke C, Triplett C et al (2020) A prospective study of parental perceptions of rapid whole-genome and -exome sequencing among seriously ill infants. Am J Hum Genet 107(5):953–962
4. Chirita-Emandi A, Andreescu N, Zimbru CG, Tutac P, Arghirescu S, Serban M et al (2020) Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes—in pediatric patients screened with NGS panels. Sci Rep 10(1):223
5. Collins V, Halliday J, Kahler S et al (2001) Parents’ experiences with genetic counseling after the birth of a baby with a genetic disorder: an exploratory study. J Genet Couns 10:53–72. https://doi.org/10.1023/A:1009455413944
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