Thomas Maher | Profiles RNS

Thomas A. Maher, MS

Assistant Professor

Boston University Chobanian & Avedisian School of Medicine

Pathology & Laboratory Medicine

MS, Boston University
BS, University of Massachusetts Boston

Websites

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	ResearchGate

ORCID : 0000-0002-6083-9487

Thomas Maher, MS, is an Assistant Professor of Pathology & Laboratory Medicine at Chobanian and Avedisian School of Medicine. Since 2012 he has also served as Laboratory Manager of the Molecular Genetics Diagnostic Laboratory at BUSM. He is licensed by the American Society for Clinical Pathology as a Molecular Pathology Technologist and a Diplomate in Laboratory Management. Additionally, he has mentored graduate students for the past 27 years.

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.

iCite Analysis Copy PMIDs To Clipboard

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.View Related Profiles.

Remick, Daniel
Miller, Nancy
Basran, Raveen
Yang, Shi
Maher, Thomas
Alekseyev, Yuriy

PMID: 29761157; PMCID: PMC5944141; DOI: 10.1177/2374289518766521;

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.

Milunsky, Aubrey
Basran, Raveen
Maher, Thomas

PMID: 21739585; DOI: 10.1002/ajmg.a.34094;

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.

Milunsky, Aubrey
Maher, Thomas

PMID: 21041284; DOI: 10.1542/peds.2010-0164;

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.

Milunsky, Aubrey
Maher, Thomas

PMID: 20143912; DOI: 10.1089/gtmb.2009.0067;

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.

Milunsky, Aubrey
Milunsky, Jeff
Flynn, Maureen
Maher, Thomas

PMID: 19254590; DOI: 10.1016/j.ajog.2008.11.004;

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;

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.

Milunsky, Aubrey
Maher, Thomas

PMID: 18316257; DOI: 10.1016/j.ejmg.2008.01.001;

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.

Milunsky, Aubrey
Maher, Thomas

PMID: 17894838

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.

Milunsky, Aubrey
Maher, Thomas

PMID: 17627390

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

Showing 10 of 22 results. Show More

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.

Milunsky, Aubrey
Maher, Thomas

PMID: 16302168

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 Related Profiles.

Milunsky, Aubrey
Maher, Thomas

PMID: 16379539

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. PMID: 14994246

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. PMID: 12791042

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. PMID: 12503101

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 Related Profiles.

Milunsky, Aubrey
Oates, Robert
Maher, Thomas

PMID: 12151438

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 Related Profiles.

Milunsky, Aubrey
Maher, Thomas

PMID: 11343322

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 Related Profiles.

Milunsky, Aubrey
Maher, Thomas

PMID: 11960578

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 Related Profiles.

Oates, Robert
Maher, Thomas

PMID: 11035677

Milunsky JM, Maher TA, Yosunkaya E, Vohr BR. Connexin-26 gene analysis in hearing-impaired newborns. Genet Test. 2000; 4(4):345-9. PMID: 11216657

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 Related Profiles.

Milunsky, Aubrey
Oates, Robert
Maher, Thomas

PMID: 1545465

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 Related Profiles.

Milunsky, Aubrey
Maher, Thomas

PMID: 2003536

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

Bar chart showing 22 publications over 15 distinct years, with a maximum of 2 publications in 2000 and 2001 and 2003 and 2005 and 2007 and 2008 and 2010

Bar chart showing 22 publications over 15 distinct years, with a maximum of 2 publications in 2000 and 2001 and 2003 and 2005 and 2007 and 2008 and 2010

Year	Publications
1991	1
1992	1
2000	2
2001	2
2002	1
2003	2
2004	1
2005	2
2006	1
2007	2
2008	2
2009	1
2010	2
2011	1
2018	1

Contact for Mentoring:

670 Albany St Biosquare III
Boston MA 02118
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617.414.5312

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