Literature DB >> 23992678

Genomics in newborn screening.

Yuval E Landau1, Uta Lichter-Konecki2, Harvey L Levy3.   

Abstract

Keywords:  ACMG; American College of Medical Genetics; NGS; Next-generation sequencing; PCR; PKU; Phenylketonuria; Polymerase chain reaction; VLCAD; VUS; Variants of unknown significance; Very long chain acyl-CoA dehydrogenase; WES; WGS; Whole exome sequencing; Whole genome sequencing

Mesh：

Year:  2013        PMID： 23992678     DOI： 10.1016/j.jpeds.2013.07.028

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  26 in total

1.  Challenges of using next generation sequencing in newborn screening.

Authors:  Eyal Reinstein
Journal:  Genet Res (Camb)       Date:  2015-11-02       Impact factor: 1.588

2.  Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing.

Authors:  Galen Joseph; Flavia Chen; Julie Harris-Wai; Jennifer M Puck; Charlotte Young; Barbara A Koenig
Journal:  Pediatrics       Date:  2016-01       Impact factor: 7.124

3.  Whole-Genome Screening of Newborns? The Constitutional Boundaries of State Newborn Screening Programs.

Authors:  Jaime S King; Monica E Smith
Journal:  Pediatrics       Date:  2016-01       Impact factor: 7.124

4.  Genetics professionals' opinions of whole-genome sequencing in the newborn period.

Authors:  Elizabeth Ulm; W Gregory Feero; Richard Dineen; Joel Charrow; Catherine Wicklund
Journal:  J Genet Couns       Date:  2014-10-28       Impact factor: 2.537

5.  Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.

Authors:  Yuval E Landau; Susan E Waisbren; Lawrence M A Chan; Harvey L Levy
Journal:  J Inherit Metab Dis       Date:  2017-01-04       Impact factor: 4.982

6.  Addressing Benefits, Risks and Consent in Next Generation Sequencing Studies.

Authors:  R Meller
Journal:  J Clin Res Bioeth       Date:  2015-12-14

7.  An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.

Authors:  Laura V Milko; Julianne M O'Daniel; Daniela M DeCristo; Stephanie B Crowley; Ann Katherine M Foreman; Kathleen E Wallace; Lonna F Mollison; Natasha T Strande; Zahra S Girnary; Lacey J Boshe; Arthur S Aylsworth; Muge Gucsavas-Calikoglu; Dianne M Frazier; Neeta L Vora; Myra I Roche; Bradford C Powell; Cynthia M Powell; Jonathan S Berg
Journal:  J Pediatr       Date:  2019-03-07       Impact factor: 4.406

8.  Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.

Authors:  Arindam Bhattacharjee; Tanya Sokolsky; Stacia K Wyman; Martin G Reese; Erik Puffenberger; Kevin Strauss; Holmes Morton; Richard B Parad; Edwin W Naylor
Journal:  Genet Med       Date:  2014-09-25       Impact factor: 8.822

9.  Advancing precision public health using human genomics: examples from the field and future research opportunities.

Authors:  Megan C Roberts; Alison E Fohner; Latrice Landry; Dana Lee Olstad; Amelia K Smit; Erin Turbitt; Caitlin G Allen
Journal:  Genome Med       Date:  2021-06-01       Impact factor: 11.117

10.  Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.

Authors:  Dale L Bodian; Elisabeth Klein; Ramaswamy K Iyer; Wendy S W Wong; Prachi Kothiyal; Daniel Stauffer; Kathi C Huddleston; Amber D Gaither; Irina Remsburg; Alina Khromykh; Robin L Baker; George L Maxwell; Joseph G Vockley; John E Niederhuber; Benjamin D Solomon
Journal:  Genet Med       Date:  2015-09-03       Impact factor: 8.822
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