Blake C Ballif

Summary

Affiliation: Signature Genomic Laboratories
Country: USA

Publications

  1. 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
  2. pmc Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes
    Marilyn L Slovak
    Signature Genomics, Spokane, WA, USA
    Mol Cytogenet 3:23. 2010
  3. 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
  4. 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
  5. doi request reprint Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2
    B C Ballif
    Signature Genomic Laboratories, LLC, Spokane, WA 99207, USA
    Clin Genet 74:469-75. 2008
  6. ncbi request reprint 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
  7. 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
  8. ncbi request reprint 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
  9. 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
  10. doi request reprint 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

Detail Information

Publications64

  1. 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
    ....
  2. pmc Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes
    Marilyn L Slovak
    Signature Genomics, Spokane, WA, USA
    Mol Cytogenet 3:23. 2010
    ....
  3. 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
    ....
  4. 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...
  5. doi request reprint Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2
    B 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...
  6. ncbi request reprint 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...
  7. 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
    ....
  8. ncbi request reprint 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...
  9. 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...
  10. doi request reprint 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
    ....
  11. doi request reprint 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...
  12. 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...
  13. ncbi request reprint 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...
  14. ncbi request reprint 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
    ....
  15. ncbi request reprint 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
    ....
  16. doi request reprint 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
    ....
  17. ncbi request reprint 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...
  18. ncbi request reprint 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...
  19. ncbi request reprint 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...
  20. pmc A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk
    Francesca Antonacci
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 42:745-50. 2010
    ..Notably, we show that the S2 configuration harbors directly oriented duplications, specifically predisposing this chromosome to disease-associated rearrangement...
  21. doi request reprint 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...
  22. doi request reprint 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...
  23. doi request reprint 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...
  24. ncbi request reprint 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
    ....
  25. doi request reprint 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...
  26. ncbi request reprint 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...
  27. 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...
  28. doi request reprint 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...
  29. doi request reprint 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
    ....
  30. ncbi request reprint 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...
  31. ncbi request reprint 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...
  32. doi request reprint 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...
  33. pmc A copy number variation morbidity map of developmental delay
    Gregory M Cooper
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 43:838-46. 2011
    ..This evolving CNV morbidity map, combined with exome and genome sequencing, will be critical for deciphering the genetic basis of developmental delay, intellectual disability and autism spectrum disorders...
  34. 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...
  35. doi request reprint 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
    ....
  36. doi request reprint 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...
  37. doi request reprint 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...
  38. 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...
  39. 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...
  40. pmc A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
    Santhosh Girirajan
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
    Nat Genet 42:203-9. 2010
    ..Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease...
  41. 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
    ....
  42. doi request reprint 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...
  43. ncbi request reprint 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...
  44. doi request reprint 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...
  45. doi request reprint Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity
    Ruxandra Bachmann-Gagescu
    Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA
    Genet Med 12:641-7. 2010
    ..The purpose of this study was to better define the phenotype of this recurrent SH2B1-containing microdeletion in a cohort of phenotypically abnormal patients not selected for obesity...
  46. ncbi request reprint 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...
  47. doi request reprint 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
    ....
  48. doi request reprint 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...
  49. 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...
  50. ncbi request reprint 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
    ....
  51. doi request reprint 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...
  52. 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:..
  53. 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
    ....
  54. doi request reprint Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients
    Shimul Chowdhury
    Providence Sacred Heart Medical Center, Molecular Diagnostics, Spokane, Washington
    Am J Med Genet A 164:62-9. 2014
    ..We postulate that unique patient-specific deletions within 19q12q13.1 may explain the phenotypic variability observed in this emerging contiguous gene deletion syndrome...
  55. ncbi request reprint Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure
    Marzena 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...
  56. 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:..
  57. pmc Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome
    Heidi 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...
  58. ncbi request reprint Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene
    Hagit 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
  59. ncbi request reprint Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome
    Keiko 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...
  60. ncbi request reprint 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 rearrangements
    Blake 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...
  61. ncbi request reprint Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions
    Blake C Ballif
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 12:2153-65. 2003
    ....
  62. ncbi request reprint Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
    Wei 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...
  63. ncbi request reprint Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions
    Blake 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...