Blake C Ballif

Summary

Affiliation: PerkinElmer Life and Analytical Sciences

Publications

  1. doi 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 1q43q44
    Blake C Ballif
    Signature Genomic Laboratories, Spokane, WA 99207, USA
    Hum Genet 131:145-56. 2012
  2. pmc Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies
    Lisa G Shaffer
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, WA, USA
    Prenat Diagn 32:976-85. 2012
  3. pmc Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound
    Lisa G Shaffer
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington, USA
    Prenat Diagn 32:986-95. 2012
  4. doi Investigation of NRXN1 deletions: clinical and molecular characterization
    Mindy Preston Dabell
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, WA, USA
    Am J Med Genet A 161:717-31. 2013
  5. doi aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy
    Aaron Theisen
    Signature Genomic Laboratories, Spokane, Washington 99207, USA
    Am J Med Genet A 149:914-8. 2009
  6. ncbi Comparative genomic hybridization by microarray for the detection of cytogenetic imbalance
    Malgorzata Jarmuz
    Health Research and Education Center, Washington State University, Spokane, WA, USA
    Methods Mol Med 128:23-31. 2006
  7. ncbi Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers
    Marzena Gajecka
    Health Research and Education Center, Washington State University Spokane, Spokane, WA 99210, USA
    Eur J Hum Genet 14:1255-62. 2006
  8. pmc Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities
    Blake C Ballif
    Signature Genomic Laboratories, Spokane, WA 99207, USA
    Am J Hum Genet 86:454-61. 2010
  9. ncbi Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
    Lisa G Shaffer
    Signature Genomic Laboratories, LLC, Spokane, Washington, USA
    J Pediatr 149:98-102. 2006
  10. ncbi The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future
    Lisa 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

Collaborators

Detail Information

Publications48

  1. doi 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 1q43q44
    Blake C Ballif
    Signature Genomic Laboratories, Spokane, WA 99207, USA
    Hum Genet 131:145-56. 2012
    ....
  2. pmc Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies
    Lisa 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...
  3. pmc Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound
    Lisa 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...
  4. doi Investigation of NRXN1 deletions: clinical and molecular characterization
    Mindy 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...
  5. doi aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy
    Aaron Theisen
    Signature Genomic Laboratories, Spokane, Washington 99207, USA
    Am J Med Genet A 149:914-8. 2009
    ....
  6. ncbi Comparative genomic hybridization by microarray for the detection of cytogenetic imbalance
    Malgorzata 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...
  7. ncbi Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers
    Marzena Gajecka
    Health Research and Education Center, Washington State University Spokane, Spokane, WA 99210, USA
    Eur J Hum Genet 14:1255-62. 2006
    ....
  8. pmc Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities
    Blake C Ballif
    Signature Genomic Laboratories, Spokane, WA 99207, USA
    Am J Hum Genet 86:454-61. 2010
    ....
  9. ncbi Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
    Lisa 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...
  10. ncbi The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future
    Lisa 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...
  11. doi Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis
    Allen 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...
  12. doi Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens
    Lisa 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...
  13. ncbi Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
    Blake C Ballif
    Signature Genomic Laboratories, Spokane, Washington 99202, USA
    Nat Genet 39:1071-3. 2007
    ..2-p12.2 constitute a previously undescribed syndrome...
  14. ncbi The clinical utility of enhanced subtelomeric coverage in array CGH
    Blake 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...
  15. ncbi Detection of low-level mosaicism by array CGH in routine diagnostic specimens
    Blake 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...
  16. doi Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE
    Jill 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...
  17. doi The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes
    Lisa G Shaffer
    Signature Genomic Laboratories, Spokane, WA 99207, USA
    Prenat Diagn 31:778-87. 2011
    ....
  18. doi Referral patterns for microarray testing in prenatal diagnosis
    Lisa 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...
  19. ncbi The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome
    Lisa 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...
  20. doi Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
    Jill 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...
  21. doi Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions
    Jill 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...
  22. pmc A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33
    Ryan N Traylor
    Signature Genomic Laboratories, Spokane, Washington, United States of America
    PLoS ONE 5:e12462. 2010
    ....
  23. pmc Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes
    Jill 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...
  24. ncbi Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization
    Blake 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...
  25. pmc Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome
    Jill 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...
  26. pmc Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region
    Justine 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...
  27. doi Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH
    Sara 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...
  28. ncbi Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH
    Blake C Ballif
    Signature Genomic Laboratories, LLC, Spokane, Washington 99210 1495, USA
    Genet Med 9:150-62. 2007
    ....
  29. doi Microarray-based comparative genomic hybridization of cancer targets reveals novel, recurrent genetic aberrations in the myelodysplastic syndromes
    Kathryn A Kolquist
    Sacred Heart Medical Center, Spokane, WA, USA
    Cancer Genet 204:603-28. 2011
    ....
  30. doi Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes
    Jill 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...
  31. pmc Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH
    Nicholas 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...
  32. doi In the middle of it all: a centered approach to chromosome analysis
    Lisa 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...
  33. doi The use of microarray technology for cytogenetics
    Bassem 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...
  34. doi The use of cytogenetic microarrays in myelodysplastic syndrome characterization
    Lisa 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...
  35. pmc Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features
    Allen N Lamb
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington 99207, USA
    Hum Mutat 33:728-40. 2012
    ....
  36. doi Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases
    Jill 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...
  37. doi The use of new technologies in the detection of balanced translocations in hematologic disorders
    Lisa G Shaffer
    Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, WA, USA
    Curr Opin Genet Dev 22:264-71. 2012
    ....
  38. doi Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders
    Jill 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...
  39. doi New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome
    Jill 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-Hu√ęt anomaly, may be attributed to deletions of genes outside of the SRO...
  40. ncbi Array-based comparative genomic hybridization in clinical diagnosis
    Bassem A Bejjani
    Signature Genomic Laboratories, 44 West 6th Avenue, Suite 202, Spokane, WA 99204, USA
    Expert Rev Mol Diagn 5:421-9. 2005
    ....
  41. pmc Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
    Blake 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...
  42. pmc Evaluation of chronic lymphocytic leukemia by oligonucleotide-based microarray analysis uncovers novel aberrations not detected by FISH or cytogenetic analysis
    Kathryn A Kolquist
    Signature Genomic Laboratories, PerkinElmer Inc, 2820 North Astor Street, Spokane, WA, 99207, USA
    Mol Cytogenet 4:25. 2011
    ..abstract:..
  43. pmc Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes
    Jill A Rosenfeld
    Signature Genomic Laboratories, Spokane, WA 99207, USA
    Eur J Hum Genet 19:547-54. 2011
    ....
  44. pmc Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH
    Nicholas J Neill
    Signature Genomic Laboratories, Spokane, WA, USA
    Mol Cytogenet 3:11. 2010
    ....
  45. pmc Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report
    Ryan 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...
  46. ncbi 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
    Marzena 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...
  47. ncbi 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
    ....
  48. pmc Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis
    Roger A Schultz
    Signature Genomics, 2820 N, Astor St, Spokane, WA, 99207, USA
    Mol Cytogenet 4:4. 2011
    ..abstract:..