MargaretMaryMcGovernMD

Medical Genetics • Stony Brook, NY

Clinical Genetics, Pediatric Medical Genetics

Physician

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Office
Hsc, T-11, Suite 020
Stony Brook Children's Services, Ufpc
Stony Brook, NY 11794
Phone+1 631-444-2716
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Education & Training

Icahn School of Medicine at Mount Sinai/Kravis Children'sResidency, Pediatrics, 1987 - 1989
Zucker School of Medicine at Hofstra/Northwell at Cohen Children's Medical CenterInternship, Pediatrics, 1986 - 1987
Icahn School of Medicine at Mount SinaiClass of 1986

Certifications & Licensure

NY State Medical License 1987 - 2026
CT State Medical License 2022 - 2024
American Board of Medical Genetics and Genomics Clinical Genetics

Awards, Honors, & Recognition

Top Doctors: New York Metro Area Castle Connolly, 2010-2014
Newsday - Top Doctors on Long Island Castle Connolly, 2010-2014

Publications & Presentations

PubMed

21 citations
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation.
Margaret M. McGovern, Melissa P. Wasserstein, Bruno Bembi, Roberto Giugliani, K. Eugen Mengel, Marie T. Vanier, Qi Zhang, M. Judith Peterschmitt> ;Orphanet Journal of Rare Diseases. 2021 May 10
12 citations
Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy
Simon Jones, Margaret M. McGovern, Olivier Lidove, Roberto Giugliani, Pramod K. Mistry, Carlo Dionisi-Vici, Maria Veronica Munoz-Rojas, L Nalysnyk, Alison D. Schecter,...> ;Molecular Genetics and Metabolism. 2020 Jun 24
41 citations
Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).
Melissa P. Wasserstein, Carlo Dionisi-Vici, Roberto Giugliani, Wuh-Liang Hwu, Olivier Lidove, Zoltan Lukacs, Eugen Mengel, Pramod K. Mistry, Edward H. Schuchman, Marga...> ;Molecular Genetics and Metabolism. 2019 Feb 1
20 citations
Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients
Gerald F. Cox, Lorne A. Clarke, Roberto Giugliani, Margaret M. McGovern> ;JIMD Reports. 2018 Jul 12
61 citations
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
Margaret M. McGovern, Carlo Dionisi-Vici, Roberto Giugliani, Paul Wuh-Liang Hwu, Olivier Lidove, Zoltan Lukacs, Karl Eugen Mengel, Pramod K. Mistry, Edward H. Schuchma...> ;Genetics in Medicine. 2017 Apr 13
78 citations
Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)
Margaret M. McGovern, Ruzan Avetisyan, Bernd-Jan Sanson, Olivier Lidove> ;Orphanet Journal of Rare Diseases. 2017 Feb 23
46 citations
Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann–Pick disease type B (...
Margaret M. McGovern, Melissa P. Wasserstein, Brian Kirmse, W. Lane Duvall, Thomas D. Schiano, Beth L. Thurberg, Susan M. Richards, Gerald F. Cox> ;Genetics in Medicine. 2016 Jan 1
55 citations
Lyso-sphingomyelin is elevated in dried blood spots of Niemann–Pick B patients
Wei-Lien Chuang, Joshua Pacheco, Samantha Cooper, Margaret M. McGovern, Gerald F. Cox, Joan Keutzer, X. Kate Zhang> ;Molecular Genetics and Metabolism. 2014 Feb 1
78 citations
Morbidity and mortality in type B Niemann–Pick disease
Margaret M. McGovern, Natalie Lippa, Emilia Bagiella, Edward H. Schuchman, Robert J. Desnick, Melissa P. Wasserstein> ;Genetics in Medicine. 2013 Feb 14
30 citations
Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B.
Melissa P. Wasserstein, James Godbold, Margaret M. McGovern> ;Journal of Inherited Metabolic Disease. 2013 Jan 1
47 citations
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B).
Beth L. Thurberg, Melissa P. Wasserstein, Thomas D. Schiano, Fanny O’Brien, Susan M. Richards, Gerald F. Cox, Margaret M. McGovern> ;The American Journal of Surgical Pathology. 2012 Aug 1
25 citations
A Microbial Association with Autism
Jorge L. Benach, Ellen Li, Margaret M. McGovern> ;Mbio. 2012 Mar 1
17 citations
Imaging Manifestations of Niemann-Pick Disease Type B
William L. Simpson, David S. Mendelson, Melissa P. Wasserstein, Margaret M. McGovern> ;AJR. American Journal of Roentgenology. 2010 Jan 1
5 citations
Use of complementary and alternative medicine by patients with lysosomal storage diseases
Manisha Balwani, Laura Fuerstman, Robert J. Desnick, Brian Buckley, Margaret M. McGovern> ;Genetics in Medicine. 2009 Oct 1
37 citations
Clinician perspectives about molecular genetic testing for heritable conditions and development of a clinician-friendly laboratory report.
Ira M. Lubin, Margaret M. McGovern, Zoe Gibson, Susan J. Gross, Elaine Lyon, Roberta A Pagon, Victoria M. Pratt, Jamila R. Rashid, Colleen S. Shaw, Lander Stoddard, Tr...> ;The Journal of Molecular Diagnostics. 2009 Mar 1
91 citations
Randomized trial of a decision aid for BRCA1/BRCA2 mutation carriers: impact on measures of decision making and satisfaction.
Marc Schwartz, Heiddis B. Valdimarsdottir, Tiffani A. DeMarco, Beth N. Peshkin, William F. Lawrence, Jessica Rispoli, Karen Brown, Claudine Isaacs, Suzanne C. O'Neill,...> ;Health Psychology. 2009 Jan 1
23 citations
Ordering Molecular Genetic Tests and Reporting Results: Practices in Laboratory and Clinical Settings
Ira M. Lubin, Michele Caggana, Carolyn M. Constantin, Susan J. Gross, Elaine Lyon, Roberta A Pagon, Tracy L. Trotter, Jean Amos Wilson, Margaret M. McGovern> ;The Journal of Molecular Diagnostics. 2008 Sep 1
Ethics of using a bone marrow donor with Klinefelter syndrome
Margaret M. McGovern, Rosamond Rhodes> ;Pediatric Transplantation. 2008 Aug 1
115 citations
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.
Margaret M. McGovern, Melissa P. Wasserstein, Roberto Giugliani, Bruno Bembi, Marie T. Vanier, Eugen Mengel, Scott E. Brodie, David S. Mendelson, Gwen Skloot, Robert J...> ;Pediatrics. 2008 Aug 1
20 citations
Association between temporal orientation and attitudes about BRCA1/2 testing among women of African descent with family histories of breast cancer
Tiffany Edwards, Hayley S. Thompson, Naa Oyo A. Kwate, Karen Brown, Margaret M. McGovern, Andrea Forman, Nidhi Kapil-Pair, Lina Jandorf, Dana H. Bovbjerg, Heiddis B. V...> ;Patient Education and Counseling. 2008 Aug 1
9 citations
Molecular genetic testing in the United States: Comparison with international practice
Margaret M. McGovern, Rob Elles, Elettra Ronchi, Joe Boone, Ira M. Lubin> ;Genetic Testing. 2008 Jun 1
20 citations
Report of an International Survey of Molecular Genetic Testing Laboratories
Margaret M. McGovern, Rob Elles, Isabella Beretta, Martin J. Somerville, Gerald Hoefler, Mauri Keinanen, David E. Barton, Nancy Carson, Elisabeth Dequeker, Radim Brdic...> ;Community Genetics. 2007 Jan 1
79 citations
Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease
Melissa P. Wasserstein, Alan M. Aron, Scott E. Brodie, Calogera M. Simonaro, Robert J. Desnick, Margaret M. McGovern> ;The Journal of Pediatrics. 2006 Oct 1
41 citations
Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.
Calogera M. Simonaro, Jae-Ho Park, Efrat Eliyahu, Nataly Shtraizent, Margaret M. McGovern, Edward H. Schuchman> ;American Journal of Human Genetics. 2006 May 1
93 citations
Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials.
Margaret M. McGovern, Adam R. Aron, Scott E. Brodie, Robert J. Desnick, Melissa P. Wasserstein> ;Neurology. 2006 Jan 24
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Press Mentions

CityMD Launches Integrated Care Practice with Urgent, Primary and Specialty Doctors Under One RoofApril 1st, 2022
Stony Brook Medicine and Catholic Health Discuss Collaboration; Expanding Health Care Options for Long IslandersAugust 4th, 2021
PRIDE MONTH 2021: Stony Brook Medicine to Administer First LGBTQ+ Community Health Needs Assessment Survey on Long IslandJune 4th, 2021
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Grant Support

Clinical Trial: Rhasm In Adults With Acid Sphingomyelinase Deficiency (ASMD)National Center For Research Resources2009
Natural History And Treatment Of Niemann Pick DiseaseNational Center For Research Resources2007–2009
Niemann-Pick Disease: Genotype/Phenotype Analyses And Molecular Based TherapyNational Center For Research Resources2004–2009
Clinical Trial: Rhasm In Adults With Acid Sphingomyelinase DeficiencyNational Center For Research Resources2008
A Cross-Sectional Survey Study In Patients With Niemann-Pick B DiseaseNational Center For Research Resources2008
Delineation Of The Phenotype In Carriers Of Niemann Pick Disease Types A &BNational Center For Research Resources2005–2008
Recombinant Human Acid Sphingomyelinase In Adults With AsmdNational Center For Research Resources2007
Natural History And Treatment Of Niemann Pick DiseaseNational Center For Research Resources2005–2007
A Cross-Sectional Survey Study To Collect Normative Data In Patients With Nie...National Center For Research Resources2004
Graduate Medical Education In GeneticsNational Human Genome Research Institute2003–2004
Undergraduate Medical Education In Genetics Using StandaNational Human Genome Research Institute2000–2002
Phenotypic Heterogeneity, Treatment And Prevention Of Genetic DiseasesNational Center For Research Resources1997
Diagnosis And Treatment Of Patients With Inherited Metabolic DiseasesNational Center For Research Resources1997