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Mary-Alice Abbott MD, PhD

TitleAssociate Professor
InstitutionUMass Chan – Baystate Regional Campus
DepartmentPediatrics at UMass Chan - Baystate
AddressBaystate Health Regional Campus
759 Chestnut Street
Springfield MA 01199
Phone413-794-8890
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    Other Positions
    InstitutionT.H. Chan School of Medicine
    DepartmentPediatrics


    Collapse Biography 
    Collapse education and training
    Wellesley College, Wellesley, MA, United StatesBAPhysics
    University of Massachusetts Medical School, Worcester, MA, United StatesMD
    University of Massachusetts Medical School, Worcester, MA, United StatesPHDNeuroscience

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Rich M, Schroeder B, Manning C, Abbott MA. Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant. Prenat Diagn. 2023 12; 43(13):1671-1673. PMID: 38013637.
      Citations:    Fields:    Translation:Humans
    2. Nouduri S, Padmanabhan R, Hicks R, Abbott MA, O'Brien D, Schlaug G. Case report: MELAS and concomitant presumed antiphospholipid antibody syndrome in an adult woman. Front Neurol. 2022; 13:1043695. PMID: 36588908.
      Citations:    
    3. Hale JE, Darras BT, Swoboda KJ, Estrella E, Chen JYH, Abbott MA, Hay BN, Kumar B, Counihan AM, Gerstel-Thompson J, Sahai I, Eaton RB, Comeau AM. Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy. Int J Neonatal Screen. 2021 May 23; 7(2). PMID: 34071063.
      Citations:    
    4. Abbott MA, Diebold WJ, Rosengren SS. Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome. Am J Med Genet C Semin Med Genet. 2021 06; 187(2):219-223. PMID: 33982836.
      Citations:    Fields:    Translation:Humans
    5. Roseman AS, Blackburn PR, Bakshi S, Grady L, Abbott MA, Hassan S, Hunt J, Richardson M, Peterson JF, Nguyen P, Greipp PT, Singh R. Twin-to-twin transmission of transient abnormal myelopoiesis without constitutional trisomy 21: A case report. Cancer Genet. 2020 06; 244:62-64. PMID: 32464589.
      Citations: 1     Fields:    Translation:Humans
    6. Adamidis A, Cantas-Orsdemir S, Tsirka A, Abbott MA, Visintainer P, Tonyushkina K. Apparent Mineralocorticoid Excess in the Pediatric Population: Report of a Novel Pathogenic Variant of the 11?-HSD2 Gene and Systematic Review of the Literature. Pediatr Endocrinol Rev. 2019 Mar; 16(3):335-358. PMID: 30888125.
      Citations: 1     Fields:    Translation:Humans
    7. Richardson A, Berry GT, Garganta C, Abbott MA. Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings. JIMD Rep. 2017; 32:25-32. PMID: 27295195.
      Citations:    
    8. Abbott MA. Cleft lip and palate. Pediatr Rev. 2014 May; 35(5):177-81. PMID: 24790071.
      Citations: 5     Fields:    Translation:Humans
    9. Abbott MA, Prater SN, Banugaria SG, Richards SM, Young SP, Rosenberg AS, Kishnani PS. Atypical immunologic response in a patient with CRIM-negative Pompe disease. Mol Genet Metab. 2011 Dec; 104(4):583-6. PMID: 21889385.
      Citations: 18     Fields:    Translation:Humans
    10. Zucker AR, Gondolesi GE, Abbott MA, Decker R, Rosengren SS, Fishbein TM. Liver-intestine transplant from a pediatric donor with unrecognized mitochondrial succinate cytochrome C reductase deficiency. Transplantation. 2005 Feb 15; 79(3):356-8. PMID: 15699769.
      Citations: 2     Fields:    Translation:Humans
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