Literature DB >> 31767983

When should genomic and exome sequencing be implemented in newborns? A call for an update to newborn screening guidelines.

Rachele M Hendricks-Sturrup1, Christine Y Lu2.   

Abstract

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Year:  2019        PMID： 31767983     DOI： 10.1038/s41436-019-0707-7

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  1 in total

1.  High incidence of complement C9 deficiency in Koreans.

Authors:  Hee Jung Kang; Han Sung Kim; Yung Kyoung Lee; Hyoun Chan Cho
Journal:  Ann Clin Lab Sci       Date:  2005       Impact factor: 1.256
  1 in total
  2 in total

Review 1.  An appraisal of the Wilson & Jungner criteria in the context of genomic-based newborn screening for inborn errors of immunity.

Authors:  Jovanka R King; Luigi D Notarangelo; Lennart Hammarström
Journal:  J Allergy Clin Immunol       Date:  2021-02       Impact factor: 10.793

2.  Parental Guidance Suggested: Engaging Parents as Partners in Research Studies of Genomic Screening for a Pediatric Population.

Authors:  Sabrina N Powell; Grace Byfield; Ashley Bennetone; Annabelle M Frantz; Langston K Harrison; Erin R James-Crook; Heather Osborne; Thomas H Owens; Jonathan L Shaw; Julianne O'Daniel; Laura V Milko
Journal:  Front Genet       Date:  2022-03-25       Impact factor: 4.772
  2 in total

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