Senior Scientist and Director, NIH Genetic Testing Registry
Medical Genetics
Dr. Wendy S. Rubinstein, MD
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Wendy S. Rubinstein, MD works in the field of Medical Genetics. She went to Icahn School of Medicine at Mount Sinai. Icahn School of Medicine at Mount Sinai has a rank of 20 in research and a 62 in primary care She has 3 awards "NIH Directors Award", "National Library of Medicine Special Services Award" and "Fellow". Wendy Rubinstein is a published MD. She has 74 papers published. The most current publication "A piece of my mind. A 'normal' practice."
Publications
- ClinVar: public archive of interpretations of clinically relevant variants.
- American Society of Clinical Oncology Expert Statement: Collection and Use of a Cancer Family History for Oncology Providers.
- The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency.
- Alcohol and tobacco lower the age of presentation in sporadic pancreatic cancer in a dose-dependent manner: a multicenter study.
- Health beliefs among individuals at increased familial risk for type 2 diabetes: Implications for prevention.
- Family Physicians' Awareness and Knowledge of the Genetic Information Non-Discrimination Act (GINA).
- Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1 Interacting Genes.
- Long-term outcomes, branch-specific expressivity, and disease-related mortality in von Hippel-Lindau type 2A.
- Genetic Variation in IGF2, HTRA1, and MMP3 and Breast Cancer Risk Among BRCA1 and BRCA2 Carriers.
- Components of family history associated with women's disease perceptions for cancer: a report from the Family Healthware⢠Impact Trial.
- Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations.
- Endocrine cancer predisposition syndromes: hereditary paraganglioma, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, and hereditary thyroid c...
- Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality.
- Detection of BRCA1 and BRCA2 Ashkenazi Jewish founder mutations in formalin-fixed paraffin-embedded tissues using conventional PCR and heteroduplex/amplicon size diffe...
- Cost-effectiveness of population-based BRCA1/2 testing and ovarian cancer prevention for Ashkenazi Jews: a call for dialogue.
- Coping with genetic testing for breast cancer susceptibility.
- Stemming the tide of cancer for BRCA1/2 mutation carriers.
- Hereditary diffuse gastric cancer: diagnosis, genetic counseling, and prophylactic total gastrectomy.
- Bilateral prophylactic oophorectomy and bilateral prophylactic mastectomy in a prospective cohort of unaffected BRCA1 and BRCA2 mutation carriers.
- Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.
- Genetic study of familial uveal melanoma: association of uveal and cutaneous melanoma with cutaneous and ocular nevi.
- Referral to cancer genetic counseling: are there stages of readiness?
- Surgical management of BRCA1 and BRCA2 carriers: bitter choices slightly sweetened.
- Practicing medicine at the front lines of the genomic revolution.
- Use of an educational computer program before genetic counseling for breast cancer susceptibility: effects on duration and content of counseling sessions.
- Effect of a computer-based decision aid on knowledge, perceptions, and intentions about genetic testing for breast cancer susceptibility: a randomized controlled trial.
- Hereditary nonpolyposis colorectal carcinoma (HNPCC) and HNPCC-like families: Problems in diagnosis, surveillance, and management.
- The genetic family history as a risk assessment tool in internal medicine.
- Hereditary breast-ovarian cancer at the bedside: role of the medical oncologist.
- Mathematical modeling for breast cancer risk assessment. State of the art and role in medicine.
- BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes.
- Occult ovarian cancers identified at risk-reducing salpingo-oophorectomy in a prospective cohort of BRCA1/2 mutation carriers.
- Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
- Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.
- Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.
- Proportion of heritable paraganglioma cases and associated clinical characteristics.
- Prophylactic mastectomy: obstacles and benefits.
- Phenotypic dichotomy in mitochondrial complex II genetic disorders.
- Use of indium-111-labeled hepatocytes to determine the biodistribution of transplanted hepatocytes through portal vein infusion.
- Genetics and the multidisciplinary breast center.
- Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.
- Computer-based genetic counseling.
- Repositioning the hereditary paraganglioma critical region on chromosome band 11q23.
- A piece of my mind. A 'normal' practice.
- Transplantation of human hepatocytes.
- Interstitial lung disease in an adult with Fanconi anemia: clues to the pathogenesis.
- Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23.
- Restriction enzyme evidence for Alu sequence-mediated dispersion of microinjected genes in transgenic mice.
- TGFBR1*6A and cancer risk: a meta-analysis of seven case-control studies.
- Hereditary breast cancer in Jews.
- Cancer in Jews: introduction and overview.
- Genome-wide analysis of antisense transcription with Affymetrix exon array.
- Elevated levels of somatic mutation in a manifesting BRCA1 mutation carrier.
- Psychological distress and quality of life associated with genetic testing for breast cancer risk.
- Advances in counselling and surveillance of patients at risk for pancreatic cancer.
- Hereditary breast cancer: pathobiology, clinical translation, and potential for targeted cancer therapeutics.
- Roles and responsibilities of a medical geneticist.
- Haploinsufficiency for BRCA1 is associated with normal levels of DNA nucleotide excision repair in breast tissue and blood lymphocytes.
- Prospective screening study of 0.5 Tesla dedicated magnetic resonance imaging for the detection of breast cancer in young, high-risk women.
- Psychological impact of recall in high-risk breast MRI screening.
- Comparison of risk perceptions and beliefs across common chronic diseases.
- Managing hereditary gastrointestinal cancer syndromes: the partnership between genetic counselors and gastroenterologists.
- Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers.
- Familial risk for common diseases in primary care: the Family Healthware Impact Trial.
- Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers.
- The rs10993994 risk allele for prostate cancer results in clinically relevant changes in microseminoprotein-beta expression in tissue and urine.
- A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.
- Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study.
- Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.
- PCCR: Pancreatic Cancer Collaborative Registry.
- Effect of preventive messages tailored to family history on health behaviors: the Family Healthware Impact Trial.
- Clinical utility of family history for cancer screening and referral in primary care: a report from the Family Healthware Impact Trial.
- Family history and perceptions about risk and prevention for chronic diseases in primary care: a report from the family healthware impact trial.
Schools
Mount Sinai School Of Medicine Of New York University
Strong Meml Hospital University Rochester
Strong Memorial Hospital University of Rochester
Pitt
Doctors Specialties
- Clinical Genetics
- Clinical Molecular Genetics
- Internal Medicine
- Medical Genetics
Accepted Insurances
Awards
- NIH Director’s Award
- National Library of Medicine Special Services Award
- Fellow
Education
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University of Rochester -
Icahn School of Medicine at Mount Sinai -
City University of New York / Mount Sinai School of Medicine
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