Dr. Robert J Desnick PH.D., M.D.
Geneticist | Clinical Genetics (M.D.)
1 Gustave L Levy Pl Box 1498 New York NY, 10029About
Dr. Robert Desnick practices Genetic Medicine in New York, NY. As a geneticist, Dr. Desnick 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. Desnick carries out studies, tests, and counsels patients with genetic diseases.
Education and Training
Univ of Mn Med Sch-Minneapolis, Minneapolis Mn 1972
University of Minnesota Medical School 1972
Board Certification
Medical GeneticsAmerican Board of Medical GeneticsABMG
Provider Details
Expert Publications
Data provided by the National Library of Medicine- Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary
- Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23.
- Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G.
- Quality assurance in molecular genetic testing laboratories.
- Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis.
- Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.
- Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation.
- Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats.
- Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG).
- Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.
- Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.
- Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer.
- Cerebral glucose metabolism in type I alpha-N-acetylgalactosaminidase deficiency: an infantile neuroaxonal dystrophy.
- Arylsulfatase A pseudodeficiency: altered kinetic and heat-inactivation properties.
- Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.
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