Dr. Ralph Stephen Amato M.D.
Geneticist | Clinical Genetics (M.D.)
740 S LIMESTONE ST LEXINGTON KY, 40536About
Dr. Ralph Amato practices Genetic Medicine in Phoenix, AZ. As a geneticist, Dr. Amato performs experiments and analyzes data to interpret the inheritance of different traits in patients. A geneticist evaluates, diagnoses, and manages patients with hereditary conditions or congenital malformations, genetic risk calculations, and mutation analysis. Dr. Amato carries out studies, tests, and counsels patients with genetic diseases.
Education and Training
University of Nebraska College of Medicine 1973
Provider Details
Expert Publications
Data provided by the National Library of Medicine- Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
- A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple congenital anomalies.
- Improving genetic health care: a Northern New England pilot project addressing the genetic evaluation of the child with developmental delays or intellectual disability.
- Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay.
- Compound heterozygous polymerase gamma gene mutation in a patient with Alpers disease.
- The role of cyclic nucleotides in the regulation of mitotic activity in SSPE virus-infected human brain tissue.
- The role of cyclic nucleotides in the regulation of mitotic activity in SSPE virus-infected human brain tissue.
- Evaluation of new geological reference materials for uranium-series measurements: Chinese Geological Standard Glasses (CGSG) and macusanite obsidian.
- Assessment of genetic disorders: pediatrics.
- Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.
- Dysfunctional uterine bleeding associated with 45X/47XXX mosaicism and Von Willebrand's disease.
- Acute lymphoblastic leukemia with chromosomal 5;14 translocation and hypereosinophilia: case report and literature review.
- The Johanson-Blizzard syndrome: a second report of full autopsy findings.
- Chromosomes of cells cultured from brain tissue of a patient with subacute sclerosing panencephalitis.
- Mitotic activity in human lymphocyte cultures as a measure of cytotoxicity.
Treatments
- Epilepsy
- Learning Disabilities
- Birth Defects
- Down Syndrome
- Attention Deficit Hyperactivity Disorder (adhd)
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