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Beverly Hay MD

TitleAssociate Professor
InstitutionUMass Chan Medical School
DepartmentPediatrics
AddressUMass Chan Medical School
55 Lake Avenue North
Worcester MA 01655
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    Other Positions
    InstitutionT.H. Chan School of Medicine
    DepartmentPediatrics
    DivisionPediatric Genetics


    Collapse Biography 
    Collapse education and training
    University of California, Santa Barbara, Santa Barbara, CA, United StatesBAMicrobiology
    Jefferson Medical College, Philadelphia, PA, United StatesMD

    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. Grinberg G, Sokoloff G, Hay B, Lowas S. Hematologic Variations in Children With Down Syndrome. J Pediatr Hematol Oncol. 2025 Sep 01. PMID: 40906911.
      Citations:    
    2. 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:    
    3. Hale JE, Platt CD, Bonilla FA, Hay BN, Sullivan JL, Johnston AM, Pasternack MS, Hesterberg PE, Meissner HC, Cooper ER, Barmettler S, Farmer JR, Fisher D, Walter JE, Yang NJ, Sahai I, Eaton RB, DeMaria A, Notarangelo LD, Pai SY, Comeau AM. Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts. J Allergy Clin Immunol Pract. 2021 05; 9(5):2060-2067.e2. PMID: 33607339.
      Citations: 8     Fields:    Translation:HumansPHPublic Health
    4. Kane J, Berrebi K, McLean R, Petkiewicz S, Hay B, Martin M, Wiss K. Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis. Clin Case Rep. 2017 07; 5(7):1152-1154. PMID: 28680615.
      Citations:    
    5. Yokote K, Chanprasert S, Lee L, Eirich K, Takemoto M, Watanabe A, Koizumi N, Lessel D, Mori T, Hisama FM, Ladd PD, Angle B, Baris H, Cefle K, Palanduz S, Ozturk S, Chateau A, Deguchi K, Easwar TK, Federico A, Fox A, Grebe TA, Hay B, Nampoothiri S, Seiter K, Streeten E, Pi?a-Aguilar RE, Poke G, Poot M, Posmyk R, Martin GM, Kubisch C, Schindler D, Oshima J. WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects. Hum Mutat. 2017 01; 38(1):7-15. PMID: 27667302.
      Citations:    
    6. St John J, Summe H, Csikesz C, Wiss K, Hay B, Belazarian L. Multiple Caf? au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1. Pediatr Dermatol. 2016 Sep; 33(5):526-9. PMID: 27469520.
      Citations: 1     Fields:    Translation:Humans
    7. Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP. The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genet Med. 2017 01; 19(1):45-52. PMID: 27195816.
      Citations:    
    8. Tanaka AJ, Bai R, Cho MT, Anyane-Yeboa K, Ahimaz P, Wilson AL, Kendall F, Hay B, Moss T, Nardini M, Bauer M, Retterer K, Juusola J, Chung WK. De novo mutations in PURA are associated with hypotonia and developmental delay. Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1):a000356. PMID: 27148565.
      Citations:    
    9. Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM, Bonagura VR. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014 Aug 20; 312(7):729-38. PMID: 25138334.
      Citations: 248     Fields:    Translation:HumansCellsPHPublic Health
    10. Snadecki H, Criscione V, Jaquith A, Hay B, Deng A, Wiss K. Dystrophic epidermolysis bullosa associated with amniotic band syndrome. Pediatr Dermatol. 2014 Mar-Apr; 31(2):212-6. PMID: 24383893.
      Citations:    Fields:    Translation:Humans
    11. Hochberg JC, Miron PM, Hay BN, Woda BA, Wang SA, Richert-Przygonska M, Aprikyan AA, Newburger PE. Mosaic tetraploidy and transient GFI1 mutation in a patient with severe chronic neutropenia. Pediatr Blood Cancer. 2008 Mar; 50(3):630-2. PMID: 17096407.
      Citations: 9     Fields:    Translation:HumansCells
    12. Hay BN. Deletion 22q11: spectrum of associated disorders. Semin Pediatr Neurol. 2007 Sep; 14(3):136-9. PMID: 17980310.
      Citations: 12     Fields:    Translation:HumansCells
    13. Chinen J, Davis J, De Ravin SS, Hay BN, Hsu AP, Linton GF, Naumann N, Nomicos EY, Silvin C, Ulrick J, Whiting-Theobald NL, Malech HL, Puck JM. Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency. Blood. 2007 Jul 01; 110(1):67-73. PMID: 17369490.
      Citations: 38     Fields:    Translation:HumansCellsCTClinical Trials
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