Thomas A. Maher, MS

Instructor, Pathology & Laboratory Medicine

670 Albany St Biosquare III


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


  • 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
  • Published on 11/1/2005

    Milunsky A, Konialis C, Shim SH, Maher TA, Spengos K, Ito M, Pangalos C. The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis. Prenat Diagn. 2005 Nov; 25(11):1057-8. PMID: 16302168.

    Read at: PubMed

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