Assistant Professor, Human Genetics, University of Miami School of Medicine

Medical Genetics

Deborah Barbouth practices Medical Genetics. She graduated from Albert Einstein College of Medicine. She received awards:"Super Doctor". Deborah Barbouth is a published physician as well. She has 12 publications published. The latest was: Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes.

Publications

---

• Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience : Education and Barriers assessment for Jewish Genetic Dis...
• Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and F...
• Macrocephaly-capillary malformation: a report of three cases and review of the literature.
• Screening newborns for galactosemia using total body galactose oxidation to CO2 in expired air.
• Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes.
• Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.
• Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH.
• Prevention of a molecular misdiagnosis in galactosemia.
• Screening, evaluation, and management of a child with developmental delay.
• Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment.
• Expanded newborn screening: an update for pediatricians.

Schools

---

• Universidad Maimonides Facultad De Ciencias Medicas

• Jackson Memorial Hospital

• Montefiore Med Center

Doctors Specialties

---

• Clinical Biochemical Genetics
• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

---

Awards

---

• Super Doctor

Education

---

• Jackson Memorial Hospital - Jackson Health System
• Albert Einstein College of Medicine
• Maimonides University Faculty of Medicine

Hospital

---

• Nicklaus Children's Hospital
• University of Miami Hospital

Helpful Reviews

---

Give Anonymous Review

Medicare Facts

---

National Provider Identifier [NPI]	1578520250
Last Name Of The Provider	BARBOUTH
First Name Of The Provider	DEBORAH
View All

Similar Doctors

---

	Dr. Eduardo Diaz, MD
	Dr. Stephanie J. Sacharow, MD This Doctor is OpenDoctor Recommended.
	Dr. Magdalena M. Plewinska, MD This Doctor is OpenDoctor Recommended.
	Dr. Rodney R. Howell, MD This Doctor is OpenDoctor Recommended. This doctor has more publications
	Dr. Parul B. Jayakar, MD This Doctor is OpenDoctor Recommended.
	Dr. Richard Raffaele, MD This Doctor is OpenDoctor Recommended.
	Dr. Hayley F. Afanador, MD This Doctor is OpenDoctor Recommended.
	Dr. Armando Acevedo, MD This Doctor is OpenDoctor Recommended.
	Dr. Louis Elsas, MD This Doctor is OpenDoctor Recommended. This doctor has more publications
	Dr. Ronald A. Vasquez, MD This Doctor is OpenDoctor Recommended.
	Dr. Karl H. Muench, MD This Doctor is OpenDoctor Recommended. This doctor has more publications
	Dr. Olaf A. Bodamer, MD This Doctor is OpenDoctor Recommended. This doctor has more publications
	Dr. Mustafa Tekin, MD This Doctor is OpenDoctor Recommended. This doctor has more publications
	Dr. Lisa L. Baumbach, PHD This Doctor is OpenDoctor Recommended.
	Dr. Aparna Rajadhayaksha, MD This Doctor is OpenDoctor Recommended.
	Dr. Rossana L. Sanchez, MD
	Juan Chaves, ETC
	Mirtha D. Gonzalez, MSN
	Victor Novas

---

Doctor Directory | TOS | twitter | FB | Angel | blog