Steve S Sommer

Summary

Affiliation: City of Hope National Medical Center
Country: USA

Publications

  1. ncbi request reprint Elevated frequency of ATM gene missense mutations in breast cancer relative to ethnically matched controls
    Steve S Sommer
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010, USA
    Cancer Genet Cytogenet 134:25-32. 2002
  2. ncbi request reprint Structural variants in the retinoid receptor genes in patients with schizophrenia and other psychiatric diseases
    Jinong Feng
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, California 91010 3000, USA
    Am J Med Genet B Neuropsychiatr Genet 133:50-3. 2005
  3. ncbi request reprint Somatic microindels: analysis in mouse soma and comparison with the human germline
    Kelly D Gonzalez
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, California
    Hum Mutat 28:69-80. 2007
  4. ncbi request reprint MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism
    Akane Shibayama
    Department of Molecular Genetics and Diagnosis, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010 3000, USA
    Am J Med Genet B Neuropsychiatr Genet 128:50-3. 2004
  5. ncbi request reprint A large-scale validation of dosage analysis by robust dosage-polymerase chain reaction
    Vu Q Nguyen
    Department of Molecular Diagnosis, City of Hope National Medical Center and Beckman Institute, Duarte, CA 91010, USA
    Anal Biochem 371:37-42. 2007
  6. pmc Evidence for mutation showers
    Jicheng Wang
    Department of Molecular Genetics and Bioinformatics Group, Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010, USA
    Proc Natl Acad Sci U S A 104:8403-8. 2007
  7. ncbi request reprint Multiplex dosage pyrophosphorolysis-activated polymerization: application to the detection of heterozygous deletions
    Qiang Liu
    City of Hope National Medical Center, Duarte, CA 91010 3000, USA
    Biotechniques 40:661-8. 2006
  8. ncbi request reprint ATM missense mutations are frequent in patients with breast cancer
    Steve S Sommer
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010 3000, USA
    Cancer Genet Cytogenet 145:115-20. 2003
  9. doi request reprint Identification of high risk DISC1 structural variants with a 2% attributable risk for schizophrenia
    Wenjia Song
    Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010 3000, USA
    Biochem Biophys Res Commun 367:700-6. 2008
  10. ncbi request reprint Vitamin D receptor variants in 192 patients with schizophrenia and other psychiatric diseases
    Jin Yan
    Department of Molecular Genetics and Molecular Diagnosis, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010 3000, USA
    Neurosci Lett 380:37-41. 2005

Collaborators

Detail Information

Publications63

  1. ncbi request reprint Elevated frequency of ATM gene missense mutations in breast cancer relative to ethnically matched controls
    Steve S Sommer
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010, USA
    Cancer Genet Cytogenet 134:25-32. 2002
    ..Cohort-specific structural changes are significantly more prevalent in the breast cancer patients. The data are compatible with certain missense mutations in ATM predisposing to breast cancer...
  2. ncbi request reprint Structural variants in the retinoid receptor genes in patients with schizophrenia and other psychiatric diseases
    Jinong Feng
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, California 91010 3000, USA
    Am J Med Genet B Neuropsychiatr Genet 133:50-3. 2005
    ..One uncommon missense variant was found in each of the RARbeta, RARgamma, and RXRgamma genes. We conclude that structural variants in the RAR/RXR and NURR1 genes do not play a major role in the etiology of schizophrenia...
  3. ncbi request reprint Somatic microindels: analysis in mouse soma and comparison with the human germline
    Kelly D Gonzalez
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, California
    Hum Mutat 28:69-80. 2007
    ..The mouse somatic microindels have characteristics similar to those of human germline microindels, consistent with similar causative mechanisms in mouse and human, and in soma and germline...
  4. ncbi request reprint MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism
    Akane Shibayama
    Department of Molecular Genetics and Diagnosis, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010 3000, USA
    Am J Med Genet B Neuropsychiatr Genet 128:50-3. 2004
    ..009). These mutations suggest that a possible association between MECP2 mutations and autism may warrant further study...
  5. ncbi request reprint A large-scale validation of dosage analysis by robust dosage-polymerase chain reaction
    Vu Q Nguyen
    Department of Molecular Diagnosis, City of Hope National Medical Center and Beckman Institute, Duarte, CA 91010, USA
    Anal Biochem 371:37-42. 2007
    ..Deletions and duplications can be easily detected (a 2x decrease or a 1.5x increase in gene dosage). Thus, RD-PCR is a general and accurate method for detecting changes in gene dosage...
  6. pmc Evidence for mutation showers
    Jicheng Wang
    Department of Molecular Genetics and Bioinformatics Group, Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010, USA
    Proc Natl Acad Sci U S A 104:8403-8. 2007
    ..The existence of mutation showers has implications for oncogenesis and evolution, raising the possibilities of "cancer in an instant" and "introns as sponges to reduce the deleterious impact of mutation showers."..
  7. ncbi request reprint Multiplex dosage pyrophosphorolysis-activated polymerization: application to the detection of heterozygous deletions
    Qiang Liu
    City of Hope National Medical Center, Duarte, CA 91010 3000, USA
    Biotechniques 40:661-8. 2006
    ..Estimated dosage is proportional to the actual template copy number over a minimum dynamic range from 1 to 16 copies. A blinded analysis detected 100% of 43 heterozygous deletions of exons in the human factor IX gene...
  8. ncbi request reprint ATM missense mutations are frequent in patients with breast cancer
    Steve S Sommer
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010 3000, USA
    Cancer Genet Cytogenet 145:115-20. 2003
    ..0; 90% CI=1.01-4.15]. Cohort-specific missense variants displayed an odds ratio of 4.0 (90% CI=1.37-13.5). It is estimated that the attributable risk of mutations in the ATM gene is 13% in this cohort of women with breast cancer...
  9. doi request reprint Identification of high risk DISC1 structural variants with a 2% attributable risk for schizophrenia
    Wenjia Song
    Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010 3000, USA
    Biochem Biophys Res Commun 367:700-6. 2008
    ..3, 95% CI: 1.0-1.7). DISC1 illustrates how common/moderate risk alleles suggested by the HapMap project might be followed up by resequencing to identify genes with high risk, low frequency alleles of clinical relevance...
  10. ncbi request reprint Vitamin D receptor variants in 192 patients with schizophrenia and other psychiatric diseases
    Jin Yan
    Department of Molecular Genetics and Molecular Diagnosis, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010 3000, USA
    Neurosci Lett 380:37-41. 2005
    ..In conclusion, we describe three novel structural variants of the Vitamin D receptor. Further study is required to clarify their role, if any, in psychiatric disease...
  11. doi request reprint Identification of high risk DISC1 protein structural variants in patients with bipolar spectrum disorder
    Wenjia Song
    Department of Molecular Genetics, Beckman Research Institute, City of Hope National Medical Center, Duarte, CA 91010, United States
    Neurosci Lett 486:136-40. 2010
    ..The data illustrate how low/moderate risk haplotypes that might be found by the HapMap project can be followed up by resequencing to identify protein structural variants with high risk, low frequency and of potential clinical utility...
  12. pmc Somatic microindels in human cancer: the insertions are highly error-prone and derive from nearby but not adjacent sense and antisense templates
    William A Scaringe
    Department of Molecular Genetics, City of Hope National Medical Center, 1500 E Duarte Rd, Duarte, CA 91010, USA
    Hum Mol Genet 17:2910-8. 2008
    ..The data constrain possible mechanisms of microindels and raise the question of whether microindels are 'scars' from the bypass of large DNA adducts by a translesional polymerase, e.g. the 'Tarzan model' presented herein...
  13. doi request reprint p53 Testing for Li-Fraumeni and Li-Fraumeni-like syndromes
    Kelly Gonzalez
    City of Hope National Medical Center, Duarte, California, USA
    Curr Protoc Hum Genet . 2008
    ..The protocol was designed for detecting germline alterations from DNA extracted from blood; however, with some additional optimization, it could also be used to detect somatic mutations in DNA extracted from tumors...
  14. ncbi request reprint Absence of somatic ATM missense mutations in 58 mammary carcinomas
    Jinong Feng
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010, USA
    Cancer Genet Cytogenet 145:179-82. 2003
    ..73). If germline ATM missense mutations predispose to breast cancer, the unmasking of a recessive missense allele by LOH does not seem to be a critical step in breast neoplasia...
  15. ncbi request reprint Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR)
    Jinxiu Shi
    Department of Molecular Genetics and Molecular Diagnosis, City of Hope National Medical Center, Duarte, California 91010 3000, USA
    Hum Mutat 25:505. 2005
    ..No duplications were detected. Our results suggest that RD-PCR is an accurate and convenient molecular diagnostic method...
  16. ncbi request reprint Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide
    Carolyn H Buzin
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, California 91010 3000, USA
    Hum Mutat 25:177-88. 2005
    ..The hotspot reflects a difference in the underlying pattern of mutation, while the altered size distribution of microdeletions reflects certain abundant sequence motifs within the dystrophin coding sequence (relative to factor IX)...
  17. pmc Analysis of cancer mutation signatures in blood by a novel ultra-sensitive assay: monitoring of therapy or recurrence in non-metastatic breast cancer
    Zhenbin Chen
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, California, United States of America
    PLoS ONE 4:e7220. 2009
    ..Herein we present a method for detecting microinsertions/deletions/indels (MIDIs) at ultra-high analytical selectivity. MIDIs comprise about 15% of mutations...
  18. ncbi request reprint Most spontaneous tumors in a mouse model of Li-Fraumeni syndrome do not have a mutator phenotype
    Kathleen A Hill
    Department of Molecular Genetics, City of Hope Beckman Research Institute, Duarte, CA 91010, USA
    Carcinogenesis 27:1860-6. 2006
    ..However, the data clearly show key differences in tumors from p53+/- mice compared with mismatch repair deficient tumors; a lack of dramatic increase in mutation frequency and absence of a signature of mutation...
  19. doi request reprint Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations
    Kelly D Gonzalez
    Departments of Molecular Diagnosis, Molecular Genetics, Clinical Cancer Genetics, and Information Sciences, and the Bioinformatics Group, City of Hope, Duarte, CA 91010 0269, USA
    J Clin Oncol 27:1250-6. 2009
    ..A clinical testing cohort was used to gain a broader understanding of the spectrum of tumors associated with germline p53 mutations to aid clinicians in identifying high-risk families...
  20. doi request reprint Neurexin 1alpha structural variants associated with autism
    Jin Yan
    Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010 3000, USA
    Neurosci Lett 438:368-70. 2008
    ..1/192; P=0.03, Fisher's exact test, one-sided). In the context of all available data, the ultra-rare structural variants of the neurexin 1alpha gene are consistent with mutations predisposing to autism...
  21. pmc Evidence for X-chromosomal schizophrenia associated with microRNA alterations
    Jinong Feng
    Division of Molecular Genetics, City of Hope National Medical Center, Duarte, CA, USA
    PLoS ONE 4:e6121. 2009
    ..In addition, components required for miRNA processing and/or function have also been implicated in X-linked mental retardation, neurological and neoplastic diseases, pointing to the wide ranging involvement of miRNAs in disease...
  22. pmc A mouse model for nonsense mutation bypass therapy shows a dramatic multiday response to geneticin
    Chunmei Yang
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010, USA
    Proc Natl Acad Sci U S A 104:15394-9. 2007
    ..Furthermore, geneticin, its metabolites, or better tolerated analogues should be evaluated as a general treatment with multiday response for severe genetic disease caused by nonsense mutation...
  23. doi request reprint Analysis of the neuroligin 4Y gene in patients with autism
    Jin Yan
    Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010 3000, USA
    Psychiatr Genet 18:204-7. 2008
    ....
  24. ncbi request reprint Database of somatic mutations in EGFR with analyses revealing indel hotspots but no smoking-associated signature
    Dongqing Gu
    Clinical Molecular Diagnostic Laboratory CMDL, Department of Molecular Diagnosis, City of Hope National Medical Center, City of Hope, Duarte, California 91010 0269, USA
    Hum Mutat 28:760-70. 2007
    ..Authors are encouraged to submit new publications with EGFR sequence variants to be included in the database or to provide direct submissions via The WayStation submission and publication process (http://www.centralmutations.org)...
  25. ncbi request reprint Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy
    Jinong Feng
    Department of Molecular Genetics, City of Hope National Medical Center, Beckman Research Institute, Duarte, CA 91010, USA
    Mol Genet Metab 77:119-26. 2002
    ..It may be prudent to measure CK-MM in all patients with dilated cardiomyopathy to identify candidates at high risk for dystrophin mutations...
  26. pmc Toward a fluorescent single-strand conformation polymorphism technique that detects all mutations: F-DOVAM-S
    Cameron Mroske
    Department of Molecular Genetics and Department of Molecular Diagnosis, City of Hope National Medical Center, Duarte, CA 91010, USA
    Anal Biochem 368:250-7. 2007
    ..Given these data, F-DOVAM-S has the potential to be a particularly powerful technology for clinical diagnosis because it allows the mutation analysis of multiple patients to be performed within 24h...
  27. ncbi request reprint Comprehensive scanning of the ATM gene with DOVAM-S
    Carolyn H Buzin
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, California 91010 3000, USA
    Hum Mutat 21:123-31. 2003
    ..DOVAM-S is a rapid, efficient method of performing A-T diagnosis and carrier testing on a clinical time scale...
  28. ncbi request reprint Candidate gene analyses by scanning or brute force fluorescent sequencing: a comparison of DOVAM-S with gel-based and capillary-based sequencing
    Jinong Feng
    Departments of Molecular Genetics and Molecular Diagnosis, City of Hope National Medical Center, Duarte, California
    Genet Test 11:235-40. 2007
    ..DOVAM-S reduces the cost of candidate gene analyses relative to brute force sequencing by about threefold...
  29. ncbi request reprint Pyrophosphorolysis by Type II DNA polymerases: implications for pyrophosphorolysis-activated polymerization
    Qiang Liu
    Department of Molecular Genetics and Department of Molecular Diagnosis, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010 3000, USA
    Anal Biochem 324:22-8. 2004
    ..In contrast, a Type I DNA polymerase, TaqFS, can utilize either acyclonucleotide-blocked or dideoxynucleotide-blocked oligonucleotides. These findings expand the potential of nascent PAP technology...
  30. ncbi request reprint Tissue-specific time courses of spontaneous mutation frequency and deviations in mutation pattern are observed in middle to late adulthood in Big Blue mice
    Kathleen A Hill
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, California 91010, USA
    Environ Mol Mutagen 45:442-54. 2005
    ....
  31. ncbi request reprint Robust dosage (RD)-PCR protocol for the detection of heterozygous deletions
    Vu Q Nguyen
    City of Hope National Medical Center, Duarte, CA 91010 3000, USA
    Biotechniques 37:360, 362, 364. 2004
  32. ncbi request reprint PAP: detection of ultra rare mutations depends on P* oligonucleotides: "sleeping beauties" awakened by the kiss of pyrophosphorolysis
    Qiang Liu
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, California 91010 3000, USA
    Hum Mutat 23:426-36. 2004
    ..Thus, PAP also can form the basis of microarray-based scanning or resequencing methods to detect virtually all mutations...
  33. ncbi request reprint Elimination of locus-specific inter-individual variation in quantitative PCR
    Jinxiu Shi
    City of Hope National Medical Center, Duarte, CA 91010 3000, USA
    Biotechniques 37:934-8. 2004
    ..The variability is not associated with DNA extraction methods, RNA contamination, or solution protein contamination, but may reflect inhibition from tightly bound chromatin proteins...
  34. ncbi request reprint Robust dosage-PCR for detection of heterozygous chromosomal deletions
    Qiang Liu
    City of Hope National Medical Center and Beckman Research Institute, Duarte, CA, USA
    Biotechniques 34:558-62, 565-6, 568 passim. 2003
    ..Prospective analyses demonstrate that exons and flanking splice junctions can be analyzed for gene dosage with minimal optimization...
  35. ncbi request reprint Single-cell immunohistochemical mutation load assay (SCIMLA) using human paraffin-embedded tissues
    Gudrun Schlake
    Department of Molecular Genetics, City of Hope National Medical Center and Beckman Research Institute, Duarte, California 91010 3000, USA
    Environ Mol Mutagen 42:206-15. 2003
    ..The allele dropout rate was measured at 40% of the amplified cells. SCIMLA is applicable to a variety of tissues, utilizes a single amplification of an endogenous gene, displays mutant cells in situ, and may be adapted to other species...
  36. ncbi request reprint Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification
    Jinxiu Shi
    Department of Molecular Genetics and Molecular Diagnosis, City of Hope National Medical Center, Duarte, California 91010 3000, USA
    Hum Mutat 28:131-6. 2007
    ..The g.14523A>T (p.E285V), g.14487G>C (p.R273P), and g.14060G>C (p.G245R) mutations were undetectable with frequencies less than 2.0 x 10(-8). We conclude that Bi-PAP-A is a general and rapid method for detecting ultra-rare mutations...
  37. ncbi request reprint High frequency of neurexin 1beta signal peptide structural variants in patients with autism
    Jinong Feng
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010 3000, USA
    Neurosci Lett 409:10-3. 2006
    ..In addition, no structural variant was found in the neurexin 2beta gene and the neurexin 3beta gene. In the context of all available data, we conclude that mutations of the neurexin 1beta gene may contribute to autism susceptibility...
  38. pmc SNPs in human miRNA genes affect biogenesis and function
    Guihua Sun
    Department of Molecular Biology, City of Hope National Medical Center, Duarte, California 91010, USA
    RNA 15:1640-51. 2009
    ..Finally, the miRNAs examined in this study are X-linked, suggesting that the mutant alleles could be determinants in the etiology of diseases...
  39. ncbi request reprint Spontaneous mutation in Big Blue mice from fetus to old age: tissue-specific time courses of mutation frequency but similar mutation types
    Kathleen A Hill
    Department of Molecular Genetics, Beckman Research Institute City of Hope, Duarte, California 91010 0269, USA
    Environ Mol Mutagen 43:110-20. 2004
    ..These data provide a useful reference for future studies of endogenous and exogenous mutagenesis...
  40. ncbi request reprint Preferential occurrence of 1-2 microindels
    Kathleen A Hill
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, California 91010 0269, USA
    Hum Mutat 27:55-61. 2006
    ..It is estimated that a human adult carries roughly 400 billion somatic 1-2 microindels with the potential to predispose to cancer...
  41. doi request reprint Robust dosage PCR (RD-PCR) for highly accurate dosage analysis
    Vu Q Nguyen
    City of Hope National Medical Center and Beckman Research Institute, Duarte, California, USA
    Curr Protoc Hum Genet . 2009
    ..RD-PCR has the advantage of high accuracy and consistency, rapid assay development, widely available controls, and gene dosage over a wide dynamic range...
  42. pmc Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events
    Zhenbin Chen
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA, USA
    PLoS ONE 3:e3714. 2008
    ..The EGFR gene is an oncogene in which doublets are generally driver plus driver mutations, while the TP53 gene is a tumor suppressor gene with a more typical situation in which doublets derive from a driver and passenger mutation...
  43. ncbi request reprint Truncated amplification: a method for high-fidelity template-driven nucleic acid amplification
    Qiang Liu
    City of Hope National Medical Center, Duarte, CA 91010 3000, USA
    Biotechniques 33:129-32, 134-6, 138. 2002
    ..Truncated amplification is a promising approach when template-driven amplification is desired to increase thefrequency of error-free products...
  44. ncbi request reprint Assessment of multiple displacement amplification in molecular epidemiology
    Jin Yan
    City of Hope National Medical Center, Duarte, CA 91010 3000, USA
    Biotechniques 37:136-8, 140-3. 2004
    ..These results suggest that MDA is an effective method of WGA with utility in molecular epidemiology. Quality control of the MDA-amplified DNA is critical for high performance...
  45. ncbi request reprint Mutation scanning of the androgen receptor gene in patients with psychiatric disorders reveals highly conserved variants in alcoholic and phobia patients
    Jin Yan
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, California 91010 3000, USA
    Psychiatr Genet 14:57-60. 2004
    ..R726L and P516S occur at highly conserved amino acids. Further study is required to assess whether these VAPSEs contribute to the risk of alcoholism or phobia or other diseases...
  46. pmc Microarray-based DNA resequencing using 3' blocked primers
    Jakub Sram
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010, USA
    Anal Biochem 374:41-7. 2008
    ..Despite limitations in the primer purity, the signal/noise ratio between the matched and mismatched P*s sometimes exceeded 1000. Thus, PAP resequencing shows great potential for accurate and high-throughput microarray-based resequencing...
  47. ncbi request reprint Detection of extremely rare alleles by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification (Bi-PAP-A): measurement of mutation load in mammalian tissues
    Qiang Liu
    City of Hope National Medical Center, Duarte, CA, USA
    Biotechniques 36:156-66. 2004
    ..Bi-PAP-A is a rapid, general, and automatable method for the detection of rare mutations...
  48. ncbi request reprint Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy
    Jinong Feng
    Department of Molecular Genetics, City of Hope National Medical Center Beckman Research Institute, Duarte, California 91010 3000, USA
    J Am Coll Cardiol 40:1120-4. 2002
    ..The goal of this study was to perform comprehensive mutation analysis of the dystrophin gene in patients with X-linked dilated cardiomyopathy (XLCM)...
  49. ncbi request reprint Spontaneous multiple mutations show both proximal spacing consistent with chronocoordinate events and alterations with p53-deficiency
    Kathleen A Hill
    Department of Molecular Genetics and Molecular Diagnosis, Beckman Research Institute, City of Hope National Medical Center, Duarte, CA, USA
    Mutat Res 554:223-40. 2004
    ..The enhancement of doublets in p53-deficient mice may contribute to cancer risk...
  50. pmc Three ways of combining genotyping and resequencing in case-control association studies
    Jeffrey A Longmate
    Division of Biostatistics, City of Hope, Duarte, California, United States of America
    PLoS ONE 5:e14318. 2010
    ..We demonstrate the important and unusual caveat that this method requires equal sample sizes for validity. These three results can be used to more efficiently detect the association of rare genetic variants with disease...
  51. ncbi request reprint Toward efficient analysis of mutations in single cells from ethanol-fixed, paraffin-embedded, and immunohistochemically stained tissues
    Ernst Heinmöller
    Department of Molecular Genetics, City of Hope National Medical Center Beckman Research Center, Duarte, California 91010 0269, USA
    Lab Invest 82:443-53. 2002
    ..Allele dropout still represents a serious problem in single-cell mutation analysis, especially in samples with limited template DNA and prone to DNA damage...
  52. pmc Mutagenic and recombinagenic responses to defective DNA polymerase delta are facilitated by the Rev1 protein in pol3-t mutants of Saccharomyces cerevisiae
    Erica Mito
    Division of Molecular Biology, Beckman Research Institute, City of Hope National Medical Center, Duarte, California 91010 3000, USA
    Genetics 179:1795-806. 2008
    ..Genome stability, therefore, may reflect a dynamic relationship between primary and auxiliary DNA polymerases...
  53. pmc Pyrophosphorolysis-activatable oligonucleotides may facilitate detection of rare alleles, mutation scanning and analysis of chromatin structures
    Qiang Liu
    Departments of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010 3000, USA
    Nucleic Acids Res 30:598-604. 2002
    ..Thus, PAP constitutes a technology platform of potential utility whenever high specificity is required along the length of an oligonucleotide...
  54. ncbi request reprint p53 as a mutagen test in breast cancer
    Kathleen A Hill
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, California, USA
    Environ Mol Mutagen 39:216-27. 2002
    ..Mutagen tests and mutation load measurements are useful tools to identify the role of mutagens in breast cancer...
  55. ncbi request reprint Is Alu-mediated recombination an important cause of hemophilia?
    Steve S Sommer
    Department of Molecular Genetics, City of Hope Beckman Research Institute, Duarte, CA 91010 0269, USA
    Thromb Haemost 88:3-4. 2002
  56. ncbi request reprint Mutations in the factor IX gene (F9) during the past 150 years have relative rates similar to ancient mutations
    Jinong Feng
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, California
    Hum Mutat 19:49-57. 2002
    ..This result is consistent with the hypothesis that endogenous processes dominate germline mutation...
  57. ncbi request reprint Spontaneous tandem-base mutations (TBM) show dramatic tissue, age, pattern and spectrum specificity
    Kathleen A Hill
    Department of Molecular Genetics, Beckman Research Institute City of Hope, Duarte, CA 91010 0269, USA
    Mutat Res 534:173-86. 2003
    ..TBM may be the result of unknown mechanisms that may have some similarities in mice and humans...
  58. ncbi request reprint MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients
    Ana M Coutinho
    Instituto Gulbenkian de Ciencia, Oeiras, Portugal
    Am J Med Genet B Neuropsychiatr Genet 144:475-83. 2007
    ..Our results suggest that MECP2 can play a role in autism etiology, although very rarely, supporting the notion that MECP2 mutations underlie several neurodevelopmental disorders...
  59. ncbi request reprint Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers
    Jonathan A Cohn
    Department of Medicine, Durham Veterans Administration and Duke University Medical Center, Durham, North Carolina 27710, USA
    Hum Mutat 26:303-7. 2005
    ..Having two CFTR mutations imparts a higher relative risk, while having only one mutation imparts a higher attributable risk...
  60. ncbi request reprint Genetic and physiologic correlates of longitudinal immunoreactive trypsinogen decline in infants with cystic fibrosis identified through newborn screening
    Marci K Sontag
    Department of Preventive Medicine and Biometrics, University of Colorado Health Sciences Center, Denver, Colorado, USA
    J Pediatr 149:650-657. 2006
    ..To characterize the time course and physiologic significance of decline in serum immunoreactive trypsinogen (IRT) levels in infants with cystic fibrosis (CF) by mode of diagnosis and genotype, and to examine IRT heritability...
  61. ncbi request reprint Single-base discrimination mediated by proofreading inert allele specific Primers
    Chen Lin-Ling
    SNP Institute, Nanhua University, Hengyang, China
    J Biochem Mol Biol 38:24-7. 2005
    ....
  62. pmc Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer
    Graham Casey
    Department of Cancer Biology, Cleveland Clinic Lerner College of Medicine, Cleveland, Ohio 44195, USA
    JAMA 293:799-809. 2005
    ..Current data suggest that mismatch repair mutations are highly heterogeneous and that many mutations are not detected when conventional DNA sequencing alone is used...
  63. ncbi request reprint Superb nucleotide discrimination by a novel on/off switch for DNA polymerization and its applications
    Kai Li
    SNP Institute, Hengyang, Hunan, China
    Mol Biotechnol 29:93-100. 2005
    ..First, these data broaden the application of the novel on/off switch in the analysis of mutations other than SNPs. Second, it raises a nucleotide-walking algorithm suitable for de novo array-based sequencing analysis...