Thomas A. Maher, MS

Clinical Associate Professor, Pathology & Laboratory Medicine

670 Albany St Biosquare III


  • Boston University, MS
  • University of Massachusetts Boston, BS


  • Published on 5/6/2018

    Alekseyev YO, Fazeli R, Yang S, Basran R, Maher T, Miller NS, Remick D. A Next-Generation Sequencing Primer-How Does It Work and What Can It Do? Acad Pathol. 2018 Jan-Dec; 5:2374289518766521. PMID: 29761157.

    Read at: PubMed
  • Published on 7/7/2011

    Pilozzi-Edmonds L, Maher TA, Basran RK, Milunsky A, Al-Thihli K, Braverman NE, Alfares A. Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. Am J Med Genet A. 2011 Aug; 155A(8):1987-90. PMID: 21739585.

    Read at: PubMed
  • Published on 11/1/2010

    Dauber A, Hirschhorn JN, Picker J, Maher TA, Milunsky A. Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. Pediatrics. 2010 Dec; 126(6):e1594-8. PMID: 21041284.

    Read at: PubMed
  • Published on 2/1/2010

    Vaglio A, Milunsky A, Quadrelli A, Huang XL, Maher T, Mechoso B, Martínez S, Pagano S, Bellini S, Costabel M, Quadrelli R. Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication. Genet Test Mol Biomarkers. 2010 Feb; 14(1):57-65. PMID: 20143912.

    Read at: PubMed
  • Published on 3/1/2009

    Milunsky A, Ito M, Maher TA, Flynn M, Milunsky JM. Prenatal molecular diagnosis of tuberous sclerosis complex. Am J Obstet Gynecol. 2009 Mar; 200(3):321.e1-6. PMID: 19254590.

    Read at: PubMed
  • Published on 3/11/2008

    Milunsky JM, Maher TA, Zhao G, Huang XL, Wang Z, Zou Y. A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome. Clin Genet. 2008 May; 73(5):502-3. PMID: 18336587.

    Read at: PubMed
  • Published on 1/25/2008

    Vaglio A, Milunsky A, Huang XL, Quadrelli A, Mechoso B, Maher TA, Quadrelli R. A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations. Eur J Med Genet. 2008 Jul-Aug; 51(4):332-42. PMID: 18316257.

    Read at: PubMed
  • Published on 9/25/2007

    Huang XL, Isabel de Michelena M, Leon E, Maher TA, McClure R, Milunsky A. Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome. Clin Genet. 2007 Nov; 72(5):434-40. PMID: 17894838.

    Read at: PubMed
  • Published on 1/1/2007

    Milunsky JM, Maher TA, Ito M, Milunsky A. The value of MLPA in Waardenburg syndrome. Genet Test. 2007; 11(2):179-82. PMID: 17627390.

    Read at: PubMed
  • Published on 4/1/2006

    Milunsky JM, Zhao G, Maher TA, Colby R, Everman DB. LADD syndrome is caused by FGF10 mutations. Clin Genet. 2006 Apr; 69(4):349-54. PMID: 16630169.

    Read at: PubMed

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