Research Topics
Genomes and GenesSpecies | Bassem A BejjaniSummaryAffiliation: Signature Genomic Laboratories Country: USA Publications
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Publications
The use of microarray technology for cytogeneticsBassem A Bejjani
Signature Genomic Laboratories, Spokane, WA, USA
Methods Mol Biol 632:125-39. 2010..Cytogeneticists are uniquely positioned to understand these mechanisms and assist genetic counselors and clinicians in their daily interactions with patients and families...- Application of array-based comparative genomic hybridization to clinical diagnosticsBassem A Bejjani
Signature Genomic Laboratories, LLC, 44 W 6th Ave, Suite 202, Spokane, WA 99204, USA
J Mol Diagn 8:528-33. 2006..This new platform is poised to revolutionize modern cytogenetic diagnostics and to provide clinicians with a powerful tool to use in their increasingly sophisticated diagnostic capabilities... - Array-based comparative genomic hybridization in clinical diagnosisBassem A Bejjani
Signature Genomic Laboratories, 44 West 6th Avenue, Suite 202, Spokane, WA 99204, USA
Expert Rev Mol Diagn 5:421-9. 2005.... - Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?Bassem A Bejjani
Signature Genomic Laboratories, LLC, Spokane, WA 99204, USA
Am J Med Genet A 134:259-67. 2005.... - Clinical utility of contemporary molecular cytogeneticsBassem A Bejjani
Signature Genomic Laboratories, LLC, Spokane, Washington 99202, USA
Annu Rev Genomics Hum Genet 9:71-86. 2008..Newer methodologies are being developed, which will likely lead to a new understanding of the genome and its relationship to health and disease... - 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 reportRoland Haj
Signature Genomic Laboratories, Spokane, WA, USA
Mol Cytogenet 2:2. 2009..Although most CCRs appear balanced at the level of the light microscope, many demonstrate cryptic, submicroscopic imbalances at the translocation breakpoints... - Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical casesLisa G Shaffer
Signature Genomic Laboratories, LLC, Spokane, Washington, USA
J Pediatr 149:98-102. 2006..To assess the yield of array-based comparative genomic hybridization... - Comparative genomic hybridization by microarray for the detection of cytogenetic imbalanceMalgorzata Jarmuz
Health Research and Education Center, Washington State University, Spokane, WA, USA
Methods Mol Med 128:23-31. 2006..Properly constructed, microarrays have the potential to be a valuable tool for the detection of chromosomal abnormalities in cancer and genetic disease... - Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPEJill A Rosenfeld
Signature Genomic Laboratories, Spokane, WA 99207, USA
Hum Genet 127:421-40. 2010..A search for significant aCGH findings in individuals referred for testing for HPE revealed a novel association of a duplication involving GSK3B at 3q13.33 with HPE or a microform, seen in two unrelated individuals... - Detection of low-level mosaicism by array CGH in routine diagnostic specimensBlake C Ballif
Signature Genomic Laboratories, LLC, Spokane, Washington, USA
Am J Med Genet A 140:2757-67. 2006..Thus, array CGH, which is based on genomic DNA extracted directly from uncultured peripheral blood, may be more likely to detect low-level mosaicism for unbalanced chromosome abnormalities than traditional cytogenetic techniques... - 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... - Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarrayJustine Coppinger
Signature Genomic Laboratories, Spokane, WA, USA
Prenat Diagn 29:1156-66. 2009..To determine the detection rates of whole-genome microarray technology compared to targeted microarray analysis for chromosome abnormalities in prenatal samples submitted for diagnostic testing... - aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsyAaron Theisen
Signature Genomic Laboratories, Spokane, Washington 99207, USA
Am J Med Genet A 149:914-8. 2009.... - The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the futureLisa G Shaffer
Signature Genomic Laboratories, LLC, 120 N Pine Street, Ste 242C, Spokane, WA 99202, USA
Am J Med Genet C Semin Med Genet 145:335-45. 2007..c) 2007 Wiley-Liss, Inc... - 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.... - High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44Blake C Ballif
Signature Genomic Laboratories, Spokane, WA 99207, USA
Hum Genet 131:145-56. 2012.... - The clinical utility of enhanced subtelomeric coverage in array CGHBlake C Ballif
Signature Genomic Laboratories, LLC, Spokane, Washington 99202, USA
Am J Med Genet A 143:1850-7. 2007..Microarrays designed to investigate regions known to be involved in chromosome abnormalities will enhance the detection of cytogenetic abnormalities at unprecedented resolution and frequency... - Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimensLisa G Shaffer
Signature Genomic Laboratories, Spokane, WA 99202, USA
Prenat Diagn 28:789-95. 2008..To compare the detection rate by microarray analysis for chromosome abnormalities in a prenatal population to that of a neonatal population referred for diagnostic testing... - Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutationsJill A Rosenfeld
Signature Genomic Laboratories, 2820 N AstorStreet, Spokane, WA 99207, USA
Genet Med 11:797-805. 2009..Previous reports have suggested that the Pitt-Hopkins syndrome phenotype is independent of mutation or deletion type... - Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalitiesBlake C Ballif
Signature Genomic Laboratories, Spokane, WA 99207, USA
Am J Hum Genet 86:454-61. 2010.... - The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndromeLisa G Shaffer
Health Research and Education Center, Washington State University, Spokane, Washington, USA
Genet Med 9:607-16. 2007..We report as an illustrative example the characterization of a novel microdeletion syndrome of 1q41q42... - Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypesJill A Rosenfeld
Signature Genomic Laboratories, Spokane, Washington, USA
Am J Med Genet A 155:1906-16. 2011..Although development is likely affected by increased dosage of the genes in the region, the developmental disruption appears less severe than that seen with deletion... - Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2Blake C Ballif
Signature Genomic Laboratories, Spokane, Washington 99202, USA
Nat Genet 39:1071-3. 2007..2-p12.2 constitute a previously undescribed syndrome... - Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGHSara Anne Adams
Signature Genomic Laboratories, LLC, Spokane, Washington, USA
Genet Med 11:314-22. 2009..In these cases, diagnosis before the manifestation of the patient's full phenotype dramatically impacts genetic counseling, clinical management, and eventual prognosis and survivability... - Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridizationBlake C Ballif
Signature Genomic Laboratories, LLC, Spokane, WA 99204, USA
Prenat Diagn 26:333-9. 2006..However, array CGH, like all CGH procedures, has heretofore been deemed unable to detect ploidy, a major cause of fetal demise and spontaneous miscarriage... - Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGHBlake C Ballif
Signature Genomic Laboratories, LLC, Spokane, Washington 99210 1495, USA
Genet Med 9:150-62. 2007.... - Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32Marzena Gajecka
Basic Medical Sciences Program, Washington, Wyoming, Alaska, Montana, and Idaho, Washington State University, Spokane, Washington 99210 1495, USA
Invest Ophthalmol Vis Sci 50:1531-9. 2009..There is also evidence that VSX1 and SOD1 may be involved in the etiology of KTCN. The purpose of this study was to verify the available data and to identify a new keratoconus susceptibility locus... - Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome regionJustine Coppinger
Signature Genomic Laboratories, LLC, Spokane, WA 99207, USA
Hum Mol Genet 18:1377-83. 2009..The variable phenotypes and preponderance of familial cases obfuscate the clinical relevance of the molecular data and emphasize the need for careful parental assessments and clinical correlations... - Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humansCarla Bidinost
Health Research and Education Center, Washington State University Spokane, Spokane, Washington 99210 1495, USA
Invest Ophthalmol Vis Sci 47:1486-90. 2006..In the current study, tyrosinase (TYR) was investigated in human PCG... - 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... - Development of new postnatal diagnostic methods for chromosome disordersLisa G Shaffer
Signature Genomic Laboratories, Spokane, WA 99207, USA
Semin Fetal Neonatal Med 16:114-8. 2011.... - Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplicationBlake C Ballif
Signature Genomic Laboratories, LLC, Spokane, WA, USA
Mol Cytogenet 1:8. 2008..6 Mb common-sized deletion. Given the molecular mechanism causing the deletion, the reciprocal duplication is anticipated to occur with equal frequency, although only one family with this duplication has been reported... - Design, development, validation, and use of synthetic nucleic acid controls for diagnostic purposes and application to cystic fibrosis testingTodd M Christensen
Molecular Diagnostics Laboratory, Sacred Heart Medical Center Spokane, Spokane, WA 99204, USA
J Mol Diagn 9:315-9. 2007..It has not escaped our notice that the design of these molecules makes possible the production of similar controls for virtually any mutation or sequence of interest... - Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGHNicholas J Neill
Signature Genomic Laboratories, Spokane, WA, USA
Mol Cytogenet 3:11. 2010.... - Effects of ozone exposure during microarray posthybridization washes and scanningSteve Byerly
Signature Genomic Laboratories, 2820 N Astor St, Spokane, WA 99207, USA
J Mol Diagn 11:590-7. 2009..We also found that washed microarrays produce the best results when immediately scanned; however, if a low-ozone environment is maintained, there will be little compromise in the data collected... - A cytogeneticist's perspective on genomic microarraysLisa G Shaffer
Health Research and Education Center, Washington State University Spokane, Sacred Heart Medical Center, and Signature Genomic Laboratories, Spokane, Washington, USA
Hum Reprod Update 10:221-6. 2004..We anticipate that array CGH will be employed in the clinical cytogenetics laboratory in the near future and will lead to the identification of the chromosomal basis of new syndromes and existing genetic conditions... - Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalitiesCarla Bidinost
Health Research and Education Center, Washington State University Spokane, Spokane, Washington, USA
Invest Ophthalmol Vis Sci 47:1274-80. 2006..Also studied were two siblings who were homozygous for the PITX3 mutation who had microphthalmia and significant neurologic impairment... - Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformationW Michael McCormack
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet 112:384-9. 2002..Therefore, careful high-resolution cytogenetic analysis (550 band level or greater) of 13q22-q33 may be considered in these patients. Furthermore, future molecular studies of this region may reveal candidate gene loci for the DWM... - Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformationW Michael McCormack
Department of Molecular and Human Genetics, Baylor College of Medicine, Room S434, One Baylor Plaza, Houston, TX 77030, USA
Am J Med Genet A 118:384-9. 2003..Therefore, careful high-resolution cytogenetic analysis (550 band level or greater) of 13q22-q33 may be considered in these patients. Furthermore, future molecular studies of this region may reveal candidate gene loci for the DWM... - Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletionsWei Yu
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Hum Mol Genet 12:2145-52. 2003..We anticipate that array CGH will change the diagnostic approach to many congenital and acquired genetic diseases such as mental retardation, birth defects and cancer... - Williams syndrome in a preterm infant with phenotype of Alagille syndromePrakesh S Shah
Department of Pediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
Am J Med Genet A 146:2407-11. 2008..This case illustrates the importance of microarray analysis in diagnosing genetic conditions, especially in preterm babies whose facial and other clinical manifestations have not fully developed... - Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2)Seema R Lalani
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
BMC Med Genet 7:8. 2006..Congenital heart disease has been described in three individuals with interstitial deletion involving this region of chromosome 15... - Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocationAndre Megarbane
Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon, France
Am J Med Genet 108:69-74. 2002..The phenotype of the twins is most likely related to this cryptic chromosomal rearrangement. The fact that the phenotype in this family partially overlaps with some previously reported phenotypes is discussed... - Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) geneHagit Baris
Division of Genetics, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA
Am J Med Genet A 140:1876-9. 2006 - Developing a sustainable process to provide quality control materials for genetic testingBin Chen
Quality Control Materials for Genetic Testing Group, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
Genet Med 7:534-49. 2005..A Genetic Testing Quality Control Materials Program has therefore been established by CDC in March 2005 to serve these needs... - Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocationsSue Ann Berend
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet 111:362-5. 2002..Our results and the large number of case reports in the literature suggest that patients with abnormal phenotypes and acrocentric rearrangements of chromosomes 14 or 15 should be tested for UPD... - Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patientsYuan-qing Wu
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet 109:121-4. 2002..Although the regulatory elements that control STX1A transcription were not examined, these results do not support a role for STX1A in the WS phenotype... - Expanding the phenotype of alveolar capillary dysplasia (ACD)Partha Sen
Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
J Pediatr 145:646-51. 2004....