Affiliation: Quest Diagnostics
- Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature reviewMorteza Hemmat
Cytogenetics Department, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA
Mol Cytogenet 6:17. 2013..To date, 10 cases of recombinant chromosome 4 have been reported...
- BCR-JAK2 fusion as a result of a translocation (9;22)(p24;q11.2) in a patient with CML-like myeloproliferative diseaseMohamed M Elnaggar
Cytogenetics, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92675, USA
Mol Cytogenet 5:23. 2012..The recurrent, albeit rare, nature of the breakpoints within BCR and JAK2 suggests a potential new diagnostic target that should be interrogated in Ph-negative CML/MPD patients...
- Evaluation of chronic lymphocytic leukemia by oligonucleotide-based microarray analysis uncovers novel aberrations not detected by FISH or cytogenetic analysisKathryn A Kolquist
Signature Genomic Laboratories, PerkinElmer Inc, 2820 North Astor Street, Spokane, WA, 99207, USA
Mol Cytogenet 4:25. 2011..abstract:..
- Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delayTrilochan Sahoo
Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington, USA
Am J Med Genet A 155:3110-5. 2011..Both individuals had developmental and speech delay, and one had mild dysmorphism. We predict disruption of AFF2 in these two patients is likely the cause of their overlapping phenotypes...
- Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problemsTrilochan Sahoo
Signature Genomic Laboratories, 2820 N Astor St, Spokane, WA 99207, USA
Genet Med 13:868-80. 2011....
- Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palateTrilochan Sahoo
Signature Genomics, Spokane, Washington, USA
Am J Med Genet A 155:1646-53. 2011..Lack of significant phenotypic components in family members of Patient 1 suggests variable expressivity for the phenotype...
- Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new casesJill A Rosenfeld
Signature Genomic Laboratories, PerkinElmer, Inc, 2820 N Astor St, Spokane, WA 99207, USA
Neurogenetics 13:31-47. 2012..Although the phenotypes associated with 6q deletions can vary, using overlapping deletions to delineate critical regions improves genotype-phenotype correlation for interstitial 6q deletions...
- Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypesJill A Rosenfeld
Signature Genomic Laboratories, Spokane, WA 99207, USA
Eur J Hum Genet 19:547-54. 2011....
- Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disordersJill A Rosenfeld
Signature Genomic Laboratories, Spokane, Washington 99207, USA
Genet Med 12:694-702. 2010..Microarray-based comparative genomic hybridization and other molecular cytogenetic techniques are discovering an increasing number of copy number variations in individuals with autism spectrum disorder...