Literature DB >> 18007148

Committee Report: advancing the current recommended panel of conditions for newborn screening.

Nancy S Green1, Piero Rinaldo, Amy Brower, Coleen Boyle, Denise Dougherty, Michele Lloyd-Puryear, Marie Y Mann, Rodney R Howell.   

Abstract

The Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children is charged with advising the Secretary of the US Department of Health and Human Services in areas relevant to heritable conditions in children, especially newborn screening (NBS). This report describes the formulation by the Committee of a new process to nominate and review conditions to the recommended universal NBS panel. Nominations are currently being solicited. Committee review will adhere to the fundamental principles of being transparent, broadly accessible, evidence-based and consistent across the process for all of the proposed conditions across the process.

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Year:  2007        PMID: 18007148     DOI: 10.1097/gim.0b013e318159a38e

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


  8 in total

Review 1.  Challenges of translating genetic tests into clinical and public health practice.

Authors:  Wolf H Rogowski; Scott D Grosse; Muin J Khoury
Journal:  Nat Rev Genet       Date:  2009-07       Impact factor: 53.242

Review 2.  Genomics and perinatal care.

Authors:  Joann Bodurtha; Jerome F Strauss
Journal:  N Engl J Med       Date:  2012-01-05       Impact factor: 91.245

Review 3.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors:  David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2010-05-14       Impact factor: 11.025

4.  Fragile X screening: attitudes of genetic health professionals.

Authors:  Kruti Acharya; Lainie Friedman Ross
Journal:  Am J Med Genet A       Date:  2009-02-15       Impact factor: 2.802

5.  A Novel Targeted Screening Tool for Hypogammaglobulinemia: Measurement of Serum Immunoglobulin (IgG, IgM, IgA) Levels from Dried Blood Spots (Ig-DBS Assay).

Authors:  Leman Yel; Christopher J Rabbat; Charlotte Cunningham-Rundles; Jordan S Orange; Troy R Torgerson; James W Verbsky; Yeong Wang; Maoyong Fu; Terry S Robins; Marc S Edwards; Jesper Nymann-Andersen
Journal:  J Clin Immunol       Date:  2015-08-16       Impact factor: 8.317

6.  Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).

Authors:  Amy Brower; Kee Chan; Marc Williams; Susan Berry; Robert Currier; Piero Rinaldo; Michele Caggana; Amy Gaviglio; William Wilcox; Robert Steiner; Ingrid A Holm; Jennifer Taylor; Joseph J Orsini; Luca Brunelli; Joanne Adelberg; Olaf Bodamer; Sarah Viall; Curt Scharfe; Melissa Wasserstein; Jin Y Chen; Maria Escolar; Aaron Goldenberg; Kathryn Swoboda; Can Ficicioglu; Dieter Matern; Rachel Lee; Michael Watson
Journal:  Front Genet       Date:  2022-07-22       Impact factor: 4.772

7.  Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy.

Authors:  Randy J Chandler; Charles P Venditti
Journal:  Mol Ther       Date:  2009-10-27       Impact factor: 11.454

8.  Association between use of systematic reviews and national policy recommendations on screening newborn babies for rare diseases: systematic review and meta-analysis.

Authors:  Sian Taylor-Phillips; Chris Stinton; Lavinia Ferrante di Ruffano; Farah Seedat; Aileen Clarke; Jonathan J Deeks
Journal:  BMJ       Date:  2018-05-09
  8 in total

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