Physician
Medical Genetics
Dr. Margaret M. McGovern, MD
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Margaret McGovern is an expert in the field of Medical Genetics. She researched medicine at Icahn School of Medicine at Mount Sinai. Icahn School of Medicine at Mount Sinai is ranked 20 in research and 62 in primary care medicine She has 2 awards "Top Doctors: New York Metro Area" and "Newsday - Top Doctors on Long Island". Doctor Margaret M. McGovern, MD is a published doctor. She has 51 publications published. The most current publication "Absence of 185delAG mutation of the BRCA1 gene and 6174delT mutation of the BRCA2 gene in Ashkenazi Jewish men with prostate cancer."
Publications
- Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients.
- Morbidity and mortality in type B Niemann-Pick disease.
- Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B.
- Liver and Skin Histopathology in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B).
- A microbial association with autism.
- Imaging manifestations of Niemann-Pick disease type B.
- Use of complementary and alternative medicine by patients with lysosomal storage diseases.
- Clinician perspectives about molecular genetic testing for heritable conditions and development of a clinician-friendly laboratory report.
- Randomized trial of a decision aid for BRCA1/BRCA2 mutation carriers: impact on measures of decision making and satisfaction.
- Ordering molecular genetic tests and reporting results: practices in laboratory and clinical settings.
- A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.
- Ethics of using a bone marrow donor with Klinefelter syndrome.
- Association between temporal orientation and attitudes about BRCA1/2 testing among women of African descent with family histories of breast cancer.
- Molecular genetic testing in the United States: comparison with international practice.
- Report of an international survey of molecular genetic testing laboratories.
- Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.
- Use of standardized patients in, undergraduate medical genetics education.
- Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.
- Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials.
- Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing.
- Referral and experience with genetic testing among women with early onset breast cancer.
- The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study.
- Lipid abnormalities in children with types A and B Niemann Pick disease.
- Ocular manifestations of Niemann-Pick disease type B.
- Attitudes and psychosocial adjustment of unaffected siblings of patients with phenylketonuria.
- Interaction of genetic counselors with molecular genetic testing laboratories: implications for non-geneticist health care providers.
- International genetic testing.
- Biochemical effect of intravenous arginine butyrate in X-linked adrenoleukodystrophy.
- Growth restriction in children with type B Niemann-Pick disease.
- Personnel standards and quality assurance practices of biochemical genetic testing laboratories in the United States.
- The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
- Attitudes of pediatric residents toward ethical issues associated with genetic testing in children.
- A fluorescence-based, high-throughput sphingomyelin assay for the analysis of Niemann-Pick disease and other disorders of sphingomyelin metabolism.
- Awareness of genetic testing for colorectal cancer predisposition among specialists in gastroenterology.
- Death education: knowledge, attitudes, and perspectives of Irish parents and teachers.
- Esophageal pseudomass: extrinsic compression of the esophagus due to a narrow thoracic inlet.
- Issues in implementing prenatal screening for cystic fibrosis: results of a working conference.
- Quality assurance in molecular genetic testing laboratories.
- Absence of 185delAG mutation of the BRCA1 gene and 6174delT mutation of the BRCA2 gene in Ashkenazi Jewish men with prostate cancer.
- Allogeneic bone marrow transplantation. Recent developments and the potential expansion of the donor pool.
- Acceptability of chorionic villi sampling for prenatal diagnosis.
- Bone marrow transplantation in Maroteaux-Lamy syndrome (MPS type 6): status 40 months after BMT.
- Animal model studies of allelism: characterization of arylsulfatase B mutations in homoallelic and heteroallelic (genetic compound) homozygotes with feline mucopolysac...
- Purification and properties of human hepatic aspartylglucosaminidase.
- Purification and properties of feline and human arylsulfatase B isozymes. Evidence for feline homodimeric and human monomeric structures.
- Enhancement of residual arylsulfatase B activity in feline mucopolysaccharidosis VI by thiol-induced subunit association.
- Animal models of mucopolysaccharidosis.
- Animal analogues of human inherited metabolic diseases: molecular pathology and therapeutic studies.
- Feline mucopolysaccharidosis VI: purification and characterization of the resident arylsulfatase B activity.
- An improved method for heterozygote identification in feline and human mucopolysaccharidosis VI, arylsulfatase-B deficiency.
Schools
Mount Sinai School Of Medicine Of New York University
Schneider Chldns Hospital
Mt Sinai Hospital
Doctors Specialties
- Clinical Genetics
- Clinical Molecular Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Awards
- Top Doctors: New York Metro Area
- Newsday - Top Doctors on Long Island
Education
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Mount Sinai School of Medicine -
North Shore-Long Island Jewish Health System -
Icahn School of Medicine at Mount Sinai
Hospital
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Stony Brook University Medical Center
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