Publications
- Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.
- Rosenfeld JA, Crolla JA, Tomkins S, Bader P, Morrow B, Gorski J, Troxell R, Forster-Gibson C, Cilliers D, Hislop RG, Lamb A, Torchia B, Ballif BC, Shaffer LG. (2010) Am J Med Genet A 152A:1951-9
(Request reprint) - Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
- Duker AL, Ballif BC, Bawle EV, Person RE, Mahadevan S, Alliman S, Thompson R, Traylor R, Bejjani BA, Shaffer LG, Rosenfeld JA, Lamb AN, Sahoo T. (2010) Eur J Hum Genet [epub]
(Request reprint) - Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH.
- Neill NJ, Torchia BS, Bejjani BA, Shaffer LG, Ballif BC. (2010) Mol Cytogenet 3:11
(Request reprint) - The use of microarray technology for cytogenetics.
- Bejjani BA, Shaffer LG, Ballif BC. (2010) Methods Mol Biol. 632:125-39
(Request reprint) - Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
- Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, Rudd MK, Adam MP, Keene JA, Phillips JA 3rd, Pfotenhauer JP, Gowans GC, Stankiewicz P, Bejjani BA, Shaffer LG. (2010) Am J Hum Genet. 86:454-61
(Request reprint) - Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE
- Rosenfeld JA, Ballif BC, Martin DM, Aylsworth AS, Bejjani BA, Torchia BS, Shaffer LG. (2010) Hum Genet
(Request reprint) - Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.
- Rosenfeld JA, Leppig K, Ballif BC, Thiese H, Erdie-Lalena C, Bawle E, Sastry S, Spence JE, Bandholz A, Surti U, Zonana J, Keller K, Meschino W, Bejjani BA, Torchia BS, Shaffer LG. (2009) Genet Med. 11:797-805
(Request reprint) - Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray
- Coppinger J, Alliman S, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG. (2009) Prenat Diagn. 29:1156-66
(Request reprint) - Effects of Ozone Exposure during Microarray Posthybridization Washes and Scanning
- Byerly S, Sundin K, Raja R, Stanchfield J, Bejjani BA, Shaffer LG. (2009) J Mol Diagn 11:590-7
Using microarray-based molecular cytogenetic methods to identify chromosome abnormalities. Shaffer LG, Bejjani BA. (2009) Pediatr Ann 38:440-7
(Request reprint) - Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome
- Rosenfeld JA, Ballif BC, Lucas A, Spence EJ, Powell C, Aylsworth AS, Torchia BA, Shaffer LG. (2009) PLoS One 4:e6568
(Request reprint) - Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report
- Traylor RN, Fan Z, Hudson B, Rosenfeld JA, Shaffer LG, Torchia BS, Ballif BC. (2009) Mol Cytogenet 2:17
(Request reprint) - 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