Research Topics
Genomes and GenesSpecies | Blake C BallifSummaryAffiliation: Signature Genomic Laboratories Country: USA Publications
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Detail Information
Publications
Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromesMarilyn L Slovak
Signature Genomics, Spokane, WA, USA
Mol Cytogenet 3:23. 2010....
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...- 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... 
Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2B C Ballif
Signature Genomic Laboratories, LLC, Spokane, WA 99207, USA
Clin Genet 74:469-75. 2008..1q12.2 is a rare, emerging syndrome. These results illustrate that aCGH is particularly suited to identify rare chromosome abnormalities in patients with apparently non-syndromic idiopathic mental retardation and birth defects...- Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case reportRyan N Traylor
Signature Genomic Laboratories, Spokane, WA, USA
Mol Cytogenet 2:17. 2009..Reported 6q deletion patients show a high incidence of mental retardation, ear anomalies, hypotonia, and postnatal growth retardation... - 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.... - 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.... - Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnanciesLisa G Shaffer
Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, WA, USA
Prenat Diagn 32:976-85. 2012..To demonstrate the usefulness of microarray testing in prenatal diagnosis based on our laboratory experience... - Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasoundLisa G Shaffer
Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington, USA
Prenat Diagn 32:986-95. 2012..The aim of this study is to understand the diagnostic utility of comparative genomic hybridization (CGH)-based microarrays for pregnancies with abnormal ultrasound findings... - 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.... - 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... - 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.... - Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriersMarzena Gajecka
Health Research and Education Center, Washington State University Spokane, Spokane, WA 99210, USA
Eur J Hum Genet 14:1255-62. 2006.... - 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... - 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... - 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.... - 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... - 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... - 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... - 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.... - 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... - 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... - Referral patterns for microarray testing in prenatal diagnosisLisa G Shaffer
Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, WA, USA
Prenat Diagn 32:344-50. 2012..To understand the prenatal referral patterns from the United States, Canada, and Israel for two whole-genome microarray platforms, each with a different resolution... - 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... - A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33Ryan N Traylor
Signature Genomic Laboratories, Spokane, Washington, United States of America
PLoS ONE 5:e12462. 2010.... - Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletionsJill A Rosenfeld
Signature Genomic Laboratories, Spokane, Washington, USA
Am J Med Genet A 152:1951-9. 2010..Characterization of small deletions is important for narrowing critical intervals and for the identification of causative or candidate genes for features of monosomy 1p36 syndrome... - The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromesLisa G Shaffer
Signature Genomic Laboratories, Spokane, WA 99207, USA
Prenat Diagn 31:778-87. 2011.... - 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... - Investigation of NRXN1 deletions: clinical and molecular characterizationMindy Preston Dabell
Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, WA, USA
Am J Med Genet A 161:717-31. 2013..Counseling should appropriately represent this spectrum of possibilities when discussing recurrence risks or expectations for a child found to have a deletion in NRXN1... - Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysisAllen N Lamb
1 Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington, USA
Genet Med 14:914-21. 2012..To understand the ability of microarray-based comparative genomic hybridization to detect copy-number variation in the presence of maternal cell contamination... - Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypesJill A Rosenfeld
Signature Genomic Laboratories, PerkinElmer Inc, Spokane, WA 99207, USA
Eur J Hum Genet 20:754-61. 2012..1 microduplications are enriched in our population undergoing genetic testing compared with control populations. Therefore, CNVs in proximal 1q21.1 can be a contributing factor for the development of abnormal phenotypes in some carriers... - Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndromeJill A Rosenfeld
Signature Genomic Laboratories LLC, Spokane, WA, USA
PLoS ONE 4:e6568. 2009..Our results suggest that deletion of SATB2 is responsible for several of the clinical features associated with 2q32q33 microdeletion syndrome... - Microarray-based comparative genomic hybridization of cancer targets reveals novel, recurrent genetic aberrations in the myelodysplastic syndromesKathryn A Kolquist
Sacred Heart Medical Center, Spokane, WA, USA
Cancer Genet 204:603-28. 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... - Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISHNicholas J Neill
Signature Genomic Laboratories, Spokane, WA 99207, USA
Genome Res 21:535-44. 2011..Further follow-up testing using techniques such as linear amplification or sequencing should be used to determine gene involvement at the insertion site after FISH has identified the presence of an insertion... - 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... - 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... - In the middle of it all: a centered approach to chromosome analysisLisa G Shaffer
Signature Genomic Laboratories, 120 N Pine St, Spokane, WA 99202, USA 1 509 474 6840 1 509 474 6839
Expert Opin Med Diagn 2:221-9. 2008..Results/discussion: The MarkerChip demonstrates the utility of constructing a microarray for the analysis of chromosome abnormalities with coverage concentrated on areas of the genome particularly susceptible to rearrangement... - 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... - Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocationsMarzena Gajecka
Health Research and Education Center, Washington State University Spokane, Spokane, WA, 99210-1495, USA
Hum Genet 120:519-26. 2006..We propose a model for balanced translocation formation in humans similar to transposition in bacteria, in which staggered nicks are repaired resulting in duplications and insertions at the translocation breakpoints... - The use of new technologies in the detection of balanced translocations in hematologic disordersLisa G Shaffer
Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, WA, USA
Curr Opin Genet Dev 22:264-71. 2012.... - Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic featuresAllen N Lamb
Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington 99207, USA
Hum Mutat 33:728-40. 2012.... - 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... - 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... - New cases and refinement of the critical region in the 1q41q42 microdeletion syndromeJill A Rosenfeld
Signature Genomic Laboratories, 2820 N Astor St, Spokane, WA 99207, USA
Eur J Med Genet 54:42-9. 2011..Additionally, some features present in a minority of individuals, such as Pelger-Huët anomaly, may be attributed to deletions of genes outside of the SRO... - 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.... - 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:.. - 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.... - The use of cytogenetic microarrays in myelodysplastic syndrome characterizationLisa G Shaffer
Signature Genomic Laboratories, PerkinElmer Inc, Spokane, WA, USA
Methods Mol Biol 973:69-85. 2013..Novel genomic alterations identified by array testing may lead to better targeted therapies for treating patients with MDS... - Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closureMarzena Gajecka
Health Research and Education Center, Washington State University, Spokane, WA 99210, USA
Eur J Hum Genet 13:139-49. 2005..These data emphasize the important role of cytogenetics in investigating and uncovering the etiologies of human genetic disease, particularly cytogenetic imbalances that reveal potentially dosage-sensitive genes... - Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysisRoger A Schultz
Signature Genomics, 2820 N, Astor St, Spokane, WA, 99207, USA
Mol Cytogenet 4:4. 2011..abstract:.. - Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndromeKeiko Wakui
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Eur J Hum Genet 13:528-40. 2005..6-46.7 Mb from the 11p terminus... - 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 - Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletionsBlake C Ballif
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 12:2153-65. 2003.... - 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... - Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndromeHeidi A Heilstedt
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Am J Hum Genet 72:1200-12. 2003..Our clinical findings allow for the more accurate recognition of the syndrome and for proper medical evaluation... - Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangementsBlake C Ballif
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Genet 114:198-206. 2004..Alternative models are also discussed... - Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletionsBlake C Ballif
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Chromosome Res 12:133-41. 2004..Mechanisms by which repetitive elements may be involved in the process of terminal deletion formation and stabilization are discussed...