Thomas A. Maher, MS
Instructor
Boston University School of Medicine
Dept of Pathology & Laboratory Medicine

MS, Boston University


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.

  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 Related Profiles. PMID: 21739585; DOI: 10.1002/ajmg.a.34094;.
  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 Related Profiles. PMID: 21041284; DOI: 10.1542/peds.2010-0164;.
  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 Related Profiles. PMID: 20143912; DOI: 10.1089/gtmb.2009.0067;.
  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 Related Profiles. PMID: 19254590; DOI: 10.1016/j.ajog.2008.11.004;.
  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. PMID: 18336587; DOI: 10.1111/j.1399-0004.2008.00983.x;.
  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 Related Profiles. PMID: 18316257; DOI: 10.1016/j.ejmg.2008.01.001;.
  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 Related Profiles. PMID: 17894838.
  8. Milunsky JM, Maher TA, Ito M, Milunsky A. The value of MLPA in Waardenburg syndrome. Genet Test. 2007; 11(2):179-82.View Related Profiles. PMID: 17627390.
  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. PMID: 16630169.
  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 Related Profiles. PMID: 16302168.
Showing 10 of 21 results. Show More

This graph shows the total number of publications by year, by first, middle/unknown, or last author.

Bar chart showing 21 publications over 14 distinct years, with a maximum of 2 publications in 2000 and 2001 and 2003 and 2005 and 2007 and 2008 and 2010

YearPublications
19911
19921
20002
20012
20021
20032
20041
20052
20061
20072
20082
20091
20102
20111
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670 Albany St Biosquare III
Boston MA 02118
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