Debra Freedenberg - Concepedia

Author

Debra Freedenberg

Texas Department of State Health Services

Also Known As

D. Freedenberg, Debra Freedenberg, Debra L. Freedenberg, J. Wojtaszewski, Stephen R. Braddock

Publications

3.8K

Citations

H-Index

Concepts

All Affiliations

Texas Department of State Health Services Baylor College of Medicine Texas Children's Hospital Boston Children's Hospital Mayo Clinic

About

Debra Freedenberg is an author at Texas Department of State Health Services specializing in medicine, genetics, and psychiatry.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	8	8	1.3K
2	Education	1	1	191
3	Health Sciences	1	1	191
4	Nursing	1	1	45
5	Public Health	1	1	49

Debra Freedenberg

Publications

2.5K

Citations

H-Index

Page 1

	Year	Citations
Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States Antonia Kwan, Roshini S. Abraham, Robert J. Currier, JAMA	2014	657
Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements Pengfei Liu, Ayelet Erez, Sandesh C. Sreenath Nagamani, Cell ChromatinGenome InstabilityGeneticsDna ReplicationChromosomal Rearrangement	2011	457
The incidence of urea cycle disorders Marshall Summar, Stefan Koelker, Debra Freedenberg, Molecular Genetics and Metabolism UrologyMedicineFemale UrologyMenopauseChronic Kidney Disease	2013	308
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males Daniela del Gaudio, Ping Fang, Fernando Scaglia, Genetics in Medicine Developmental BiologyBrain DevelopmentDevelopmental GeneticsGeneticsGenomic Duplication	2006	269
Relapsing diabetes can result from moderately activating mutations in KCNJ11 Anna L. Gloyn, Frank Reimann, Christophe A. Girard, Human Molecular Genetics	2005	197
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region Jonathan S. Berg, Nicola Brunetti‐Pierri, Sarika U. Peters, Genetics in Medicine Neurodevelopmental DisordersWilliams-beuren Syndrome RegionPsychiatrySyndromic AutismPediatrics	2007	191
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency Georgianne L. Arnold, Johan Van Hove, Debra Freedenberg, Molecular Genetics and Metabolism Laboratory MedicineCoagulopathyHematologyMedicine	2009	146
Improving the Sensitivity and Positive Predictive Value in a Cystic Fibrosis Newborn Screening Program Using a Repeat Immunoreactive Trypsinogen and Genetic Analysis Marci K. Sontag, Rachel Lee, Daniel G. Wright, The Journal of Pediatrics Genetic AnalysisEarly DiagnosisGenetic TestingNewborn ScreeningNeonatal Genomics	2016	49
Development, testing, and validation of a patient satisfaction questionnaire for use in the clinical genetics setting Barbara C. Zellerino, Sharon A. Milligan, Ron Brooks, American Journal of Medical Genetics Part C Seminars in Medical Genetics NursingQuality Of LifeGenetic TestingPsychiatry14-Question Pilot Questionnaire	2009	45
Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond–Blackfan anaemia Margaret Wat, Victoria B. Enciso, Wojciech Wiszniewski, Journal of Medical Genetics	2010	44

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