1. BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children.

    Modern Pathology 28(4):575 (2015) PMID 25360585 PMCID PMC4385430

    The BCOR-CCNB3 fusion gene, resulting from a chromosome X paracentric inversion, was recently described in translocation-negative 'Ewing-like' sarcomas arising in bone and soft tissue. Genetic subclassification of undifferentiated unclassified sarcomas may potentially offer markers for reproduci...
  2. Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis.

    Blood 124(19):3007 (2014) PMID 25202140 PMCID PMC4224195

    Langerhans cell histiocytosis (LCH) is a myeloproliferative disorder characterized by lesions composed of pathological CD207(+) dendritic cells with an inflammatory infiltrate. BRAFV600E remains the only recurrent mutation reported in LCH. In order to evaluate the spectrum of somatic mutations i...
  3. Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis.

    Blood 124(19):3007 (2014) PMID 25202140 PMCID PMC4224195

    Langerhans cell histiocytosis (LCH) is a myeloproliferative disorder characterized by lesions composed of pathological CD207(+) dendritic cells with an inflammatory infiltrate. BRAFV600E remains the only recurrent mutation reported in LCH. In order to evaluate the spectrum of somatic mutations i...
  4. Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis.

    Blood 124(19):3007 (2014) PMID 25202140 PMCID PMC4224195

    Langerhans cell histiocytosis (LCH) is a myeloproliferative disorder characterized by lesions composed of pathological CD207(+) dendritic cells with an inflammatory infiltrate. BRAFV600E remains the only recurrent mutation reported in LCH. In order to evaluate the spectrum of somatic mutations i...
  5. Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis.

    Blood 124(19):3007 (2014) PMID 25202140 PMCID PMC4224195

    Langerhans cell histiocytosis (LCH) is a myeloproliferative disorder characterized by lesions composed of pathological CD207(+) dendritic cells with an inflammatory infiltrate. BRAFV600E remains the only recurrent mutation reported in LCH. In order to evaluate the spectrum of somatic mutations i...
  6. Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis.

    Blood 124(19):3007 (2014) PMID 25202140 PMCID PMC4224195

    Langerhans cell histiocytosis (LCH) is a myeloproliferative disorder characterized by lesions composed of pathological CD207(+) dendritic cells with an inflammatory infiltrate. BRAFV600E remains the only recurrent mutation reported in LCH. In order to evaluate the spectrum of somatic mutations i...
  7. Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis.

    Blood 124(19):3007 (2014) PMID 25202140 PMCID PMC4224195

    Langerhans cell histiocytosis (LCH) is a myeloproliferative disorder characterized by lesions composed of pathological CD207(+) dendritic cells with an inflammatory infiltrate. BRAFV600E remains the only recurrent mutation reported in LCH. In order to evaluate the spectrum of somatic mutations i...
  8. Clinical tumor sequencing: an incidental casualty of the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings.

    Journal of Clinical Oncology 32(21):2203 (2014) PMID 24958819 PMCID PMC4188159

  9. Clinical tumor sequencing: an incidental casualty of the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings.

    Journal of Clinical Oncology 32(21):2203 (2014) PMID 24958819 PMCID PMC4188159

  10. The challenge of informed consent and return of results in translational genomics: empirical analysis and recommendations.

    Journal of Law, Medicine & Ethics 42(3):344 (2014) PMID 25264092 PMCID PMC4262925

    As exome and genome sequencing move into clinical application, questions surround how to elicit consent and handle potential return of individual genomic results. This study analyzes nine consent forms used in NIH-funded sequencing studies. Content analysis reveals considerable heterogeneity, in...
  11. The challenge of informed consent and return of results in translational genomics: empirical analysis and recommendations.

    Journal of Law, Medicine & Ethics 42(3):344 (2014) PMID 25264092

    As exome and genome sequencing move into clinical application, questions surround how to elicit consent and handle potential return of individual genomic results. This study analyzes nine consent forms used in NIH-funded sequencing studies. Content analysis reveals considerable heterogeneity, in...
  12. Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients.

    Genome Medicine 6(9):69 (2014) PMID 25317207 PMCID PMC4195891

    Effectively educating families about the risks and benefits of genomic tests such as whole exome sequencing (WES) offers numerous challenges, including the complexity of test results and potential loss of privacy. Research on best practices for obtaining informed consent (IC) in a variety of cli...
  13. The challenge of informed consent and return of results in translational genomics: empirical analysis and recommendations.

    Journal of Law, Medicine & Ethics 42(3):344 (2014) PMID 25264092 PMCID PMC4262925

    As exome and genome sequencing move into clinical application, questions surround how to elicit consent and handle potential return of individual genomic results. This study analyzes nine consent forms used in NIH-funded sequencing studies. Content analysis reveals considerable heterogeneity, in...
  14. Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients.

    Genome Medicine 6(9):69 (2014) PMID 25317207 PMCID PMC4195891

    Effectively educating families about the risks and benefits of genomic tests such as whole exome sequencing (WES) offers numerous challenges, including the complexity of test results and potential loss of privacy. Research on best practices for obtaining informed consent (IC) in a variety of cli...
  15. The challenge of informed consent and return of results in translational genomics: empirical analysis and recommendations.

    Journal of Law, Medicine & Ethics 42(3):344 (2014) PMID 25264092

    As exome and genome sequencing move into clinical application, questions surround how to elicit consent and handle potential return of individual genomic results. This study analyzes nine consent forms used in NIH-funded sequencing studies. Content analysis reveals considerable heterogeneity, in...
  16. The challenge of informed consent and return of results in translational genomics: empirical analysis and recommendations.

    Journal of Law, Medicine & Ethics 42(3):344 (2014) PMID 25264092 PMCID PMC4262925

    As exome and genome sequencing move into clinical application, questions surround how to elicit consent and handle potential return of individual genomic results. This study analyzes nine consent forms used in NIH-funded sequencing studies. Content analysis reveals considerable heterogeneity, in...
  17. Mutations of PTCH1, MLL2, and MLL3 are not frequent events in hepatoblastoma.

    Pediatric Blood & Cancer 58(6):1006 (2012) PMID 22183980

  18. Mutations of PTCH1, MLL2, and MLL3 are not frequent events in hepatoblastoma.

    Pediatric Blood & Cancer 58(6):1006 (2012) PMID 22183980

  19. Molecular subgroups of medulloblastoma: the current consensus.

    Acta Neuropathologica 123(4):465 (2012) PMID 22134537 PMCID PMC3306779

    Medulloblastoma, a small blue cell malignancy of the cerebellum, is a major cause of morbidity and mortality in pediatric oncology. Current mechanisms for clinical prognostication and stratification include clinical factors (age, presence of metastases, and extent of resection) as well as histol...
  20. Molecular subgroups of medulloblastoma: the current consensus.

    Acta Neuropathologica 123(4):465 (2012) PMID 22134537 PMCID PMC3306779

    Medulloblastoma, a small blue cell malignancy of the cerebellum, is a major cause of morbidity and mortality in pediatric oncology. Current mechanisms for clinical prognostication and stratification include clinical factors (age, presence of metastases, and extent of resection) as well as histol...