Literature DB >> 23997299

Newborn screening: from Guthrie to whole genome sequencing.

Michele Caggana1, Elizabeth A Jones, S I Shahied, Susan Tanksley, Cheryl A Hermerath, Ira M Lubin.   

Abstract

Mesh:

Substances:

Year:  2013        PMID: 23997299      PMCID: PMC3730001          DOI: 10.1177/00333549131280S204

Source DB:  PubMed          Journal:  Public Health Rep        ISSN: 0033-3549            Impact factor:   2.792


× No keyword cloud information.
  25 in total

1.  Serving the family from birth to the medical home. Newborn screening: a blueprint for the future - a call for a national agenda on state newborn screening programs

Authors: 
Journal:  Pediatrics       Date:  2000-08       Impact factor: 7.124

2.  Newborn dried blood spot screening: residual specimen storage issues.

Authors:  Bradford L Therrell; W Harry Hannon
Journal:  Pediatrics       Date:  2012-01-16       Impact factor: 7.124

3.  Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism.

Authors:  D S Millington; N Kodo; D L Norwood; C R Roe
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  National evaluation of US newborn screening system components.

Authors:  Bradford L Therrell; W Harry Hannon
Journal:  Ment Retard Dev Disabil Res Rev       Date:  2006

5.  A look at newborn screening: today and tomorrow.

Authors:  Peter C van Dyck; E Stephen Edwards
Journal:  Pediatrics       Date:  2006-05       Impact factor: 7.124

6.  DNA microextraction from dried blood spots on filter paper blotters: potential applications to newborn screening.

Authors:  E R McCabe; S Z Huang; W K Seltzer; M L Law
Journal:  Hum Genet       Date:  1987-03       Impact factor: 4.132

7.  Digital microfluidics: a future technology in the newborn screening laboratory?

Authors:  David S Millington; Ramakrishna Sista; Allen Eckhardt; Jeremy Rouse; Deeksha Bali; Ronald Goldberg; Michael Cotten; Rebecca Buckley; Vamsee Pamula
Journal:  Semin Perinatol       Date:  2010-04       Impact factor: 3.300

Review 8.  An evidence development process for newborn screening.

Authors:  James M Perrin; Alixandra A Knapp; Marsha F Browning; Anne Marie Comeau; Nancy S Green; Ellen A Lipstein; Danielle R Metterville; Lisa Prosser; Denise Queally; Alex R Kemper
Journal:  Genet Med       Date:  2010-03       Impact factor: 8.822

9.  Development of a routine newborn screening protocol for severe combined immunodeficiency.

Authors:  Mei W Baker; William J Grossman; Ronald H Laessig; Gary L Hoffman; Charles D Brokopp; Daniel F Kurtycz; Michael F Cogley; Thomas J Litsheim; Murray L Katcher; John M Routes
Journal:  J Allergy Clin Immunol       Date:  2009-05-31       Impact factor: 10.793

10.  Newborn screening: toward a uniform screening panel and system.

Authors: 
Journal:  Genet Med       Date:  2006-05       Impact factor: 8.822

View more
  9 in total

1.  Public health laboratory systems: at the crossroads.

Authors:  John C Ridderhof; Burton W Wilcke
Journal:  Public Health Rep       Date:  2013 Sep-Oct       Impact factor: 2.792

2.  The Use of Economic Evaluation to Inform Newborn Screening Policy Decisions: The Washington State Experience.

Authors:  Scott D Grosse; John D Thompson; Yao Ding; Michael Glass
Journal:  Milbank Q       Date:  2016-06       Impact factor: 4.911

3.  Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders.

Authors:  María Elena Márquez-Caraveo; Isabel Ibarra-González; Rocío Rodríguez-Valentín; Miguel Ángel Ramírez-García; Verónica Pérez-Barrón; Eduardo Lazcano-Ponce; Marcela Vela-Amieva
Journal:  J Autism Dev Disord       Date:  2021-06

4.  Genomic newborn screening: public health policy considerations and recommendations.

Authors:  Jan M Friedman; Martina C Cornel; Aaron J Goldenberg; Karla J Lister; Karine Sénécal; Danya F Vears
Journal:  BMC Med Genomics       Date:  2017-02-21       Impact factor: 3.063

Review 5.  Dried Blood Spot in Laboratory: Directions and Prospects.

Authors:  Kristina Malsagova; Artur Kopylov; Alexander Stepanov; Tatyana Butkova; Alexander Izotov; Anna Kaysheva
Journal:  Diagnostics (Basel)       Date:  2020-04-23

6.  Using Decision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease.

Authors:  Lisa A Prosser; K K Lam; Scott D Grosse; Mia Casale; Alex R Kemper
Journal:  MDM Policy Pract       Date:  2018-04-18

Review 7.  Epidemiology of Mucopolysaccharidoses Update.

Authors:  Betul Çelik; Saori C Tomatsu; Shunji Tomatsu; Shaukat A Khan
Journal:  Diagnostics (Basel)       Date:  2021-02-10

Review 8.  Population-based screening of newborns: Findings from the newborn screening expansion study (part two).

Authors:  Kee Chan; Amy Brower; Marc S Williams
Journal:  Front Genet       Date:  2022-09-01       Impact factor: 4.772

9.  Simple Test, Complex System: Multifaceted Views of Newborn Screening Science, Technology, and Policy.

Authors:  Kee Chan; Michael Petros
Journal:  Glob Pediatr Health       Date:  2019-12-20
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.