Literature DB >> 28497657

A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.

Luca Brunelli1, Rong Mao1,2, Sabrina Malone Jenkins1, Steven B Bleyl1,3, Shale A Dames2, Christine E Miller2, Betsy Ostrander1, Tatiana Tvrdik2, Seth Andrews3, Josue Flores1, Shrena Patel1, James M Gudgeon3, Susan Schaefer3.   

Abstract

Year:  2017        PMID： 28497657     DOI： 10.1002/ajmg.a.38259

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.

Authors:  Luca Brunelli; Sabrina M Jenkins; James M Gudgeon; Steven B Bleyl; Christine E Miller; Tatiana Tvrdik; Shale A Dames; Betsy Ostrander; Josue A F Daboub; Brandon A Zielinski; Erin K Zinkhan; Hunter R Underhill; Theodore Wilson; Joshua L Bonkowsky; Christian C Yost; Lorenzo D Botto; Justin Jenkins; Theodore J Pysher; Pinar Bayrak-Toydemir; Rong Mao
Journal:  Mol Genet Genomic Med       Date:  2019-06-13       Impact factor: 2.183

2.  The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.

Authors:  Roser Urreizti; Semra Gürsoy; Laura Castilla-Vallmanya; Guillem Cunill; Raquel Rabionet; Derya Erçal; Daniel Grinberg; Susana Balcells
Journal:  Clin Case Rep       Date:  2018-06-10

3.  Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States.

Authors:  Kristen P Fishler; Joshua C Euteneuer; Luca Brunelli
Journal:  Int J Neonatal Screen       Date:  2022-03-21
  3 in total

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