medical director nbs and genetics

Medical Genetics

Dr. Debra L. Freedenberg, MD

Debra L. Freedenberg works in the field of Medical Genetics. She researched medicine at University at Buffalo, School of Medicine and Biomedical Sciences. Debra Freedenberg is a published doctor and has 13 publications published. The lastest was: 'Mutation detection, prenatal testing, and delineation of the germline origin in a family with sporadic hemophilia B and no living hemophiliacs.'

Publications

MspI polymorphic site within the factor IX gene. Localization of the site and an improved method for detection.
Mutation detection, prenatal testing, and delineation of the germline origin in a family with sporadic hemophilia B and no living hemophiliacs.
Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development.
Relapsing diabetes can result from moderately activating mutations in KCNJ11.
Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.
Development, testing, and validation of a patient satisfaction questionnaire for use in the clinical genetics setting.
Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia.
MECP2 duplications in six patients with complex sex chromosome rearrangements.
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.

Schools

State University of New York At Buffalo
Yale New Haven Hospital

Doctors Specialties

Clinical Genetics
Clinical Molecular Genetics
Medical Biochemical Genetics
Pediatrics
Medical Genetics

Accepted Insurances

Education

Yale New Haven Children's Center
Yale-New Haven Hospital
University at Buffalo, School of Medicine and Biomedical Sciences

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