Affiliation: University of Wisconsin
- Next generation sequencing in research and diagnostics of ocular birth defectsGordana Raca
UW Cytogenetic Services, Wisconsin State Laboratory of Hygiene, 465 Henry Mall, Madison, WI 53706, USA
Mol Genet Metab 100:184-92. 2010....
- Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndromeGordana Raca
State Laboratory of Hygiene, Madison, Wisconsin 53706, USA
Am J Med Genet A 146:401-4. 2008
- Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirthGordana Raca
UW Cytogenetic Services, Wisconsin State Laboratory of Hygiene, Madison, Wisconsin 53706, USA
Am J Med Genet A 149:2437-43. 2009..This preliminary study supports the clinical value of aCGH testing in diagnostic evaluation of stillborns with congenital anomalies...
- Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individualsLaura Thorson
Department of Medical Genetics, University of Wisconsin Madison, Madison, Wisconsin, USA
Am J Med Genet A 152:904-15. 2010..However, we show that even with detailed molecular characterization, phenotype prediction remains challenging in patients with structural abnormalities of the X chromosome...
- The advantage of using SNP array in clinical testing for hematological malignancies--a comparative study of three genetic testing methodsXinjie Xu
University of Wisconsin Cytogenetic Services, Wisconsin State Laboratory of Hygiene, Madison, WI, USA Department of Pediatrics, University of Wisconsin Madison, Madison, WI, USA
Cancer Genet 206:317-26. 2013..5% for CLL). This demonstrates the advantages of combining SNP-CGH with conventional cytogenetics to provide comprehensive clinical information by detecting clonality, large balanced rearrangements, copy number aberrations, and CN-LOH. ..
- Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndromeGordana Raca
University of Wisconsin Madison, Madison, WI 53705, USA
Eur J Hum Genet 21:455-9. 2013..These are the first reported cases with well-characterized CAS in the 16p11.2 syndrome literature and the first report of this microdeletion in CAS genetics research. We discuss implications of findings for issues in both literatures...
- Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and colobomaGordana Raca
UW Cytogenetic Services, Wisconsin State Laboratory of Hygiene, University of Wisconsin Madison, Madison, Wisconsin 53706, USA
Genet Med 13:437-42. 2011..The goal of our study was to determine whether genomic copy number abnormalities (deletions and duplications) affecting genes involved in eye development contributed to the etiology of anophthalmia, microphthalmia, and coloboma...
- Chromosomal abnormalities in 2 cases of testicular failureXueyan Chen
Department of Pathology and Laboratory Medicine, University of Wisconsin Madison School of Medicine and Public Health, Madison, Wisconsin, USA
J Androl 32:226-31. 2011..These results emphasize the need for molecular cytogenetic evaluation in patients with testicular failure before using advanced reproductive techniques...
- Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridizationJennifer J S Laffin
University of Wisconsin Madison, USA
Genet Med 14:928-36. 2012..Childhood apraxia of speech is the speech disorder segregating with a mutation in FOXP2 in a multigenerational London pedigree widely studied for its role in the development of speech-language in humans...
- Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearanceMałgorzata J M Nowaczyk
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
Am J Med Genet A 146:354-60. 2008..We propose that this is a new congenital malformation syndrome associated with a paternal deletion of 6q24.3...
- NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratoryDarrel J Waggoner
Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA
Genet Med 7:524-33. 2005....