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CA, Kashork CD, Heilstedt HA, Ansel DA, Theisen A, Rice R,
Rice DP, Shaffer LG (2005) Delineation of mechanisms
and regions of dosage imbalance in complex rearrangements of
1p36 leads to a putative gene for regulation of cranial
suture closure. Eur J Hum Genet 13:139-149.
Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo
P-L, Sue W-C, Sheffield LJ, Irons M, Gomez EG, Hecht JT,
Potocki L, Shaffer LG (2005) Construction of a
natural panel of 11p11.2 deletions and further delineation
of the critical region involved in Potocki-Shaffer syndrome.
Eur J Hum Genet 13:528-540.
Shaffer LG
(2005) American College of Medical Genetics guideline on the
cytogenetic evaluation of the individual with developmental
delay or mental retardation. Genet Med 7:650-654.
Rosa AL, Wu YQ, Kwabi-Addo B, Coveler KJ, Sutton VR,
Shaffer LG (2005) Allele-specific methylation of a
functional CTCF binding site upstream of MEG3 in the human
imprinted domain of 14q32. Chromosome Res 13:809-818.
Shaffer LG
(2006) Risk estimates for uniparental disomy following
prenatal detection of a nonhomologous Robertsonian
translocation. Prenat Diagn 26:303-307.
Gajecka M, Glotzbach CD, Shaffer LG (2006) Characterization
of a complex rearrangement with interstitial deletions and
inversion on human chromosome 1. Chrom Res 14:277-282.
Gajecka M, Pavlicek A, Glotzbach CD, Ballif BC, Jurka J,
Shaffer LG (2006) Identification of sequence motifs at
the breakpoint
junctions in three t(1;9)(p36.3;q34) and delineation of
mechanisms involved in generating balanced translocations.
Hum Genet
120:519-526.
Gajecka M, Glotzbach CD, Jarmuz M, Ballif BC, Shaffer LG
(2006)
Identification of cryptic imbalance in phenotypically normal
and abnormal translocation carriers. Eur J Hum Genet
14:1255-1262.
Jarmuz M, Glotzbach CD, Bailey KA, Bandylopadhyay R,
Shaffer LG (2007) The Evolution of Satellite III DNA
Subfamilies among Primates. Am J Hum Genet
80:495-501.
