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Last Name

Thomas A. Maher, MS

TitleInstructor
InstitutionBoston University School of Medicine
DepartmentPathology & Laboratory Medicine
Address670 Albany St Biosquare III
Boston MA 02118
Phone(617) 414-5312
ORCID ORCID Icon0000-0002-6083-9487
 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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  1. 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.
    View in: PubMed
  2. 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.
    View in: PubMed
  3. 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.
    View in: PubMed
  4. 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.
    View in: PubMed
  5. 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.
    View in: PubMed
  6. 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.
    View in: PubMed
  7. 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.
    View in: PubMed
  8. Milunsky JM, Maher TA, Ito M, Milunsky A. The value of MLPA in Waardenburg syndrome. Genet Test. 2007; 11(2):179-82.
    View in: PubMed
  9. 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.
    View in: PubMed
  10. 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.
    View in: PubMed
  11. Shim SH, Ito M, Maher T, Milunsky A. Gene sequencing in neonates and infants with the long QT syndrome. Genet Test. 2005; 9(4):281-4.
    View in: PubMed
  12. Milunsky JM, Maher TA. Fragile X carrier screening and spinocerebellar ataxia in older males. Am J Med Genet A. 2004 Mar 15; 125A(3):320.
    View in: PubMed
  13. Milunsky JM, Maher TA, Loose BA, Darras BT, Ito M. XL PCR for the detection of large trinucleotide expansions in juvenile Huntington''s disease. Clin Genet. 2003 Jul; 64(1):70-3.
    View in: PubMed
  14. Milunsky JM, Maher TA, Metzenberg AB. Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. Am J Med Genet A. 2003 Jan 30; 116A(3):249-54.
    View in: PubMed
  15. Wang Z, Milunsky J, Yamin M, Maher T, Oates R, Milunsky A. Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens. Hum Reprod. 2002 Aug; 17(8):2066-72.
    View in: PubMed
  16. Milunsky JM, Maher TA, Michels VV, Milunsky A. Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet. 2001 May 15; 100(4):311-4.
    View in: PubMed
  17. Milunsky JM, Lebo RV, Ikuta T, Maher TA, Haverty CE, Milunsky A. Mutation analysis in Rett syndrome. Genet Test. 2001; 5(4):321-5.
    View in: PubMed
  18. McCallum TJ, Milunsky JM, Cunningham DL, Harris DH, Maher TA, Oates RD. Fertility in men with cystic fibrosis: an update on current surgical practices and outcomes. Chest. 2000 Oct; 118(4):1059-62.
    View in: PubMed
  19. Milunsky JM, Maher TA, Yosunkaya E, Vohr BR. Connexin-26 gene analysis in hearing-impaired newborns. Genet Test. 2000; 4(4):345-9.
    View in: PubMed
  20. Anguiano A, Oates RD, Amos JA, Dean M, Gerrard B, Stewart C, Maher TA, White MB, Milunsky A. Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA. 1992 Apr 1; 267(13):1794-7.
    View in: PubMed
  21. Milunsky A, Skare JC, Milunsky JM, Maher TA, Amos JA. Prenatal diagnosis of myotonic muscular dystrophy with linked deoxyribonucleic acid probes. Am J Obstet Gynecol. 1991 Mar; 164(3):751-5.
    View in: PubMed
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