Dianne M. Frazier - Concepedia

Author

Dianne M. Frazier

University of North Carolina at Chapel Hill

Also Known As

Camp, Kathryn M., Cunningham, Amy, D Frazier, D. Frazier, D. M. Frazier, D.M. Frazier, Dianne Frazier, Dianne M. Frazier, Dianne Murphy Frazier, Donna Frazier

Publications

2.9K

Citations

H-Index

Concepts

All Affiliations

University of North Carolina at Chapel Hill American College of Medical Genetics Emory University University of Miami University of Padua

About

Dianne M. Frazier is an author at University of North Carolina at Chapel Hill specializing in medicine, pediatrics, and newborn screening.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	11	11	1.9K
2	Public Health	2	2	81
3	Clinical Nutrition	2	2	714
4	Biochemistry	1	1	81
5	Genetic Medicine	1	1	232

Dianne M. Frazier

Publications

2.3K

Citations

H-Index

Page 1

	Year	Citations
Phenylalanine hydroxylase deficiency: diagnosis and management guideline Jerry Vockley, Hans C. Andersson, Kevin M. Antshel, Genetics in Medicine MedicineClinical NutritionPathologyAdrenal DiseaseMetabolism	2014	692
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project David McHugh, Cynthia A. Cameron, José E. Abdenur, Genetics in Medicine Metabolic SyndromeNewborn ScreeningMetabolic DisorderMass SpectrometryPediatrics	2011	349
Phenylketonuria Scientific Review Conference: State of the science and future research needs Kathryn Camp, Melissa A. Parisi, Phyllis B. Acosta, Molecular Genetics and Metabolism Translational MedicineChronic Kidney DiseaseRenal PathologyPathologyTranslational Research	2014	263
The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005 Dianne M. Frazier, David S. Millington, Shawn E. McCandless, Journal of Inherited Metabolic Disease	2006	242
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency* Brage Storstein Andresen, Steve F. Dobrowolski, Linda P. O’Reilly, The American Journal of Human Genetics Clinical SymptomsMendelian DisorderPrevalent MutationMedicineGenetic Disorder	2001	232
Enhanced interpretation of newborn screening results without analyte cutoff values Gregg Marquardt, Robert J. Currier, David McHugh, Genetics in Medicine Early DiagnosisNewborn ScreeningNeonatologyMedicineDiagnosis	2012	123
Evaluation of 3‐methylcrotonyl‐CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening Dwight D. Koeberl, David S. Millington, Wendy E. Smith, Journal of Inherited Metabolic Disease	2003	87
Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia Sander M. Houten, Simone Denis, Heleen te Brinke, Human Molecular Genetics Mitochondrial NadpGeneticsRedox BiologyOxidative StressMitochondrial Biogenesis	2014	81
An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening Laura V. Milko, Julianne O’Daniel, Daniela M. DeCristo, The Journal of Pediatrics Newborn ScreeningNeonatal GenomicsSequencingMedicineGenetics	2019	81
Barriers to successful dietary control among pregnant women with phenylketonuria Amanda Savage Brown, Paul M. Fernhoff, Susan E. Waisbren, Genetics in Medicine NutritionPublic Health NutritionGynecologyWomen's HealthMaternal Health	2002	59

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