Publications
- Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH.
- Adams SA, Coppinger J, Saitta SC, Stroud T, Kandamurugu M, Fan Z, Ballif BC, Shaffer LG, Bejjani BA. (2009) Genet Med 11:314-322
(Request reprint) - aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.
- Theisen A, Rosenfeld JA, Farrell SA, Harris CJ, Wetzel HH, Torchia BA, Bejjani BA, Ballif BC, Shaffer LG. (2009) Am J Med Genet A 149:914-918
(Request reprint) - Identification of familial and de novo microduplications of 22q11.21Ðq11.23 distal to the 22q11.21 microdeletion syndrome region.
- Coppinger J, McDonald-McGinn D, Zackai E, Shane K, Atkin JF, Asamoah A, Leland R, Weaver DD, Lansky-Shafer S, Schmidt K, Feldman H, Cohen W, Phalin J, Powell B, Ballif BC, Theisen A, Geiger E, Haldeman-Englert C, Shaikh TH, Saitta S, Bejjani BA, Shaffer LG. (2009) Mol Cytogenet 18:1377-1383
(Request reprint) - Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report.
- Haj R, Jackson K, Torchia BA, Shaffer LG, Bejjani BA, Gowans GC, Ruff MW. (2009) Mol Cytogenet 7:2
(Request reprint) - Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.
- Ballif B, Theisen A, McDonald-McGinn D, Zackai E, Hersh J, Bejjani B, Shaffer L (2008) Clin Genet 74:469-475
(Request reprint) - Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens.
- Shaffer LG, Coppinger J, Alliman S, Torchia BA, Theisen A, Ballif BC, Bejjani BA (2008) Prenat Diagn 28:789-795
(Request reprint) - Clinical Utility of Contemporary Molecular Cytogenetics.
- Bejjani BA, Shaffer LG (2008) Annu Rev Hum Genet
(Request reprint) - Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.
- Ballif BC, Theisen A, Coppinger J, Gowans GC, Hersh JH, Madan-Khetarpal S, Schmidt KR, Tervo R, Escobar LF, Friedrich CA, McDonald M, Campbell L, Ming JE, Zackai EH, Bejjani BA, Shaffer LG (2008) Mol Cytogenet 1:8
(Request reprint) - Prenatal diagnosis using array CGH.
- Kashork CD, Theisen A, Shaffer LG (2008) Methods Mol Biol 444:59-69
(Request reprint) - In the middle of it all: a centered approach to chromosome analysis.
- Shaffer LG, Ballif BC, Theisen A, Rorem E, Bejjani BA, Torchia BA (2008) Expert Opin Med Diagn 2:1-8
(Request reprint) - The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
- Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T (2007) Genet Med 9:607-616
(Request reprint) - Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
- Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, Graham JM Jr, Medne L, Zackai EH, Shaikh TH, Geoghegan J, Selzer RR, Eis PS, Bejjani BA, Shaffer LG (2007) Nat Genet 39:1071-1073
- The clinical utility of enhanced subtelomeric coverage in array CGH.
- Ballif BC, Sulpizio SG, Lloyd RM, Minier SL, Theisen A, Bejjani BA, Shaffer LG (2007) Am J Med Genet A 143:1850-1857
Request reprint - Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH.
- Ballif BC, Hornor SA, Sulpizio SG, Lloyd RM, Minier SL, Rorem EA, Theisen A, Bejjani BA, Shaffer LG (2007) Genet Med 9:150-162
Request reprint - Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis.
- Shaffer LG, Bui TH (2007) Am J Med Genet C Semin Med Genet 145:87-98
Request reprint