Research Topics
Species | Anne Marie ComeauSummaryAffiliation: University of Massachusetts Medical School Country: USA Publications
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Detail Information
Publications
Successes of newborn screening programsAnne Marie Comeau
Science 295:44-5. 2002
Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop reportAnne Marie Comeau
New England Newborn Screening Program and Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts, USA
Pediatrics 119:e495-518. 2007....
Communications systems and their models: Massachusetts parent compliance with recommended specialty care after positive cystic fibrosis newborn screening resultAnne Marie Comeau
New England Newborn Screening Program of the University of Massachusetts Medical School, MA 02130, USA
J Pediatr 147:S98-100. 2005..To evaluate compliance with recommendations for sweat testing/specialty evaluation and genetic counseling after a positive cystic fibrosis newborn screening (CF NBS) result...
Challenges in implementing a successful newborn cystic fibrosis screening programAnne Marie Comeau
New England Newborn Screening Program of the University of Massachusetts Medical School, MA 02130, USA
J Pediatr 147:S89-93. 2005..To identify necessary components of a successful cystic fibrosis (CF) newborn screening (NBS) program...
Integration of new genetic diseases into statewide newborn screening: New England experienceAnne Marie Comeau
New England Newborn Scrrening Program, University of Massachusetts Medical School, Jamaica Plain, 02130, USA
Am J Med Genet C Semin Med Genet 125:35-41. 2004....
Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detectionsAnne Marie Comeau
New England Newborn Screening Program of University of Massachusetts Medical School, Boston, Massachusetts 02130, USA
Pediatrics 113:1573-81. 2004..The objective of this study was to evaluate technical feasibility and practical implications of 2-tiered CF newborn screening that uses testing for multiple mutations (multiple-CFTR-mutation testing)...
Guidelines for implementation of population-based newborn screening for severe combined immunodeficiencyAnne Marie Comeau
New England Newborn Screening Program, UMass Medical School, Jamaica Plain, MA 02130, USA
J Inherit Metab Dis 33:S273-81. 2010..The Massachusetts experience demonstrates that SCID NBS is a program that can be implemented on a population basis with reasonable rates of false positives...
Cystic fibrosis newborn screening: using experience to optimize the screening algorithmJaime E Hale
New England Newborn Screening Program, UMass Medical School, Jamaica Plain, MA 02130, USA
J Inherit Metab Dis 33:S255-61. 2010....
Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithmRichard B Parad
New England Newborn Screening Program, University of Massachusetts Medical School, Boston, Massachusetts 02130, USA
J Pediatr 147:S78-82. 2005....
Sweat testing infants detected by cystic fibrosis newborn screeningRichard B Parad
New England Newborn Screening Program of University of Massachusetts Medical School, MA 02130, USA
J Pediatr 147:S69-72. 2005..Describe and define limitations of early pilocarpine iontophoresis (sweat testing) for cystic fibrosis (CF) newborn screening (NBS)...
Early pulmonary manifestation of cystic fibrosis in children with the DeltaF508/R117H-7T genotypeBrian P O'Sullivan
Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts 01655, USA
Pediatrics 118:1260-5. 2006..Our cases highlight the importance of considering keeping so-called mild mutations on cystic fibrosis newborn screening panels and the need to follow children with these mutations closely...
High-throughput multiplexed T-cell-receptor excision circle quantitative PCR assay with internal controls for detection of severe combined immunodeficiency in population-based newborn screeningJacalyn L Gerstel-Thompson
New England Newborn Screening Program, University of Massachusetts Medical School, Jamaica Plain, MA 02130, USA
Clin Chem 56:1466-74. 2010..The utility of the qPCR TREC assay would also be far improved if more tests could be performed on the same newborn screening sample...
Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screeningHo Wen Hsu
New England Newborn Screening Program, University of Massachusetts Medical School, 305 South St, Jamaica Plain, MA 02130, USA
Pediatrics 121:e1108-14. 2008....
Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: early experience in New EnglandInderneel Sahai
New England Newborn Screening Program, University of Massachusetts Medical School, Boston, Massachusetts, USA
Genet Med 12:S220-7. 2010....
Newborn screening for cystic fibrosisRichard B Parad
Massachusetts Cystic Fibrosis Newborn Screening Program, University of Massachusetts Medical School, Department of Pediatrics, Harvard Medical School, Brigham and Women's Hospital, Children's Hospital, Boston, USA
Pediatr Ann 32:528-35. 2003..For developing therapies, Massachusetts will have identified its CF patients before they have sustained significant malnutrition and lung injury, and it may be these patients who will benefit most from therapies still on the horizon...
Newborn screening: new developments in a proven fieldRoger B Eaton
New England Newborn Screening Program, University of Massachusetts Medical School, Jamaica Plain, MA, USA
Clin Lab Sci 15:239-44. 2002
Newborn screening showing decreasing incidence of cystic fibrosisJaime E Hale
N Engl J Med 358:973-4. 2008
Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programsScott D Grosse
Office of the Director, National Center on Birth Defects and Developmental Disabilities, CDC, Atlanta, Georgia 30333, USA
MMWR Recomm Rep 53:1-36. 2004..States should consider the magnitude of benefits and costs and the need to minimize risks through careful planning and implementation, including ongoing collection and evaluation of outcome data...
Pilot programs in newborn screeningKenneth Pass
Wadsworth Center, NYS Department of Health, Albany, New York 12201 0509, USA
Ment Retard Dev Disabil Res Rev 12:293-300. 2006....
