1. The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias.

    Nature Genetics 47(4):330 (2015) PMID 25730765

    Infant acute lymphoblastic leukemia (ALL) with MLL rearrangements (MLL-R) represents a distinct leukemia with a poor prognosis. To define its mutational landscape, we performed whole-genome, exome, RNA and targeted DNA sequencing on 65 infants (47 MLL-R and 18 non-MLL-R cases) and 20 older child...
  2. Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci.

    The American Journal of Human Genetics 96(3):397 (2015) PMID 25704602 PMCID PMC4375420

    Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have identified multiple strongly associated regions, the causal variants are unknown. To address this, we selected 13 regions from GWASs and other studies, performed targeted sequencing in 1,409 Asian and Europea...
  3. Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci.

    The American Journal of Human Genetics 96(3):397 (2015) PMID 25704602

    Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have identified multiple strongly associated regions, the causal variants are unknown. To address this, we selected 13 regions from GWASs and other studies, performed targeted sequencing in 1,409 Asian and Europea...
  4. Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci.

    The American Journal of Human Genetics 96(3):397 (2015) PMID 25704602 PMCID PMC4375420

    Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have identified multiple strongly associated regions, the causal variants are unknown. To address this, we selected 13 regions from GWASs and other studies, performed targeted sequencing in 1,409 Asian and Europea...
  5. Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci.

    The American Journal of Human Genetics 96(3):397 (2015) PMID 25704602 PMCID PMC4375420

    Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have identified multiple strongly associated regions, the causal variants are unknown. To address this, we selected 13 regions from GWASs and other studies, performed targeted sequencing in 1,409 Asian and Europea...
  6. Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.

    The American Journal of Human Genetics 96(3):397 (2015) PMID 25704602 PMCID PMC4375420

    Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have identified multiple strongly associated regions, the causal variants are unknown. To address this, we selected 13 regions from GWASs and other studies, performed targeted sequencing in 1,409 Asian and Europea...
  7. The genomic landscape of childhood and adolescent melanoma.

    Journal of Investigative Dermatology 135(3):816 (2015) PMID 25268584

    Despite remarkable advances in the genomic characterization of adult melanoma, the molecular pathogenesis of pediatric melanoma remains largely unknown. We analyzed 15 conventional melanomas (CMs), 3 melanomas arising in congenital nevi (CNMs), and 5 spitzoid melanomas (SMs), using various platf...
  8. The genomic landscape of childhood and adolescent melanoma.

    Journal of Investigative Dermatology 135(3):816 (2015) PMID 25268584

    Despite remarkable advances in the genomic characterization of adult melanoma, the molecular pathogenesis of pediatric melanoma remains largely unknown. We analyzed 15 conventional melanomas (CMs), 3 melanomas arising in congenital nevi (CNMs), and 5 spitzoid melanomas (SMs), using various platf...
  9. The genomic landscape of childhood and adolescent melanoma.

    Journal of Investigative Dermatology 135(3):816 (2015) PMID 25268584 PMCID PMC4340976

    Despite remarkable advances in the genomic characterization of adult melanoma, the molecular pathogenesis of pediatric melanoma remains largely unknown. We analyzed 15 conventional melanomas (CMs), 3 melanomas arising in congenital nevi (CNMs), and 5 spitzoid melanomas (SMs), using various platf...
  10. Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.

    Nature 518(7540):552 (2015) PMID 25487151

    Therapy-related acute myeloid leukaemia (t-AML) and therapy-related myelodysplastic syndrome (t-MDS) are well-recognized complications of cytotoxic chemotherapy and/or radiotherapy. There are several features that distinguish t-AML from de novo AML, including a higher incidence of TP53 mutations...
  11. Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.

    Nature 518(7540):552 (2015) PMID 25487151

    Therapy-related acute myeloid leukaemia (t-AML) and therapy-related myelodysplastic syndrome (t-MDS) are well-recognized complications of cytotoxic chemotherapy and/or radiotherapy. There are several features that distinguish t-AML from de novo AML, including a higher incidence of TP53 mutations...
  12. Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.

    Nature 518(7540):552 (2015) PMID 25487151 PMCID PMC4403236

    Therapy-related acute myeloid leukaemia (t-AML) and therapy-related myelodysplastic syndrome (t-MDS) are well-recognized complications of cytotoxic chemotherapy and/or radiotherapy. There are several features that distinguish t-AML from de novo AML, including a higher incidence of TP53 mutations...
  13. Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.

    Nature 518(7540):552 (2015) PMID 25487151

    Therapy-related acute myeloid leukaemia (t-AML) and therapy-related myelodysplastic syndrome (t-MDS) are well-recognized complications of cytotoxic chemotherapy and/or radiotherapy. There are several features that distinguish t-AML from de novo AML, including a higher incidence of TP53 mutations...
  14. Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.

    Nature 518(7540):552 (2015) PMID 25487151

    Therapy-related acute myeloid leukaemia (t-AML) and therapy-related myelodysplastic syndrome (t-MDS) are well-recognized complications of cytotoxic chemotherapy and/or radiotherapy. There are several features that distinguish t-AML from de novo AML, including a higher incidence of TP53 mutations...
  15. Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.

    Nature 518(7540):552 (2015) PMID 25487151 PMCID PMC4403236

    Therapy-related acute myeloid leukaemia (t-AML) and therapy-related myelodysplastic syndrome (t-MDS) are well-recognized complications of cytotoxic chemotherapy and/or radiotherapy. There are several features that distinguish t-AML from de novo AML, including a higher incidence of TP53 mutations...
  16. Genetic heterogeneity of induced pluripotent stem cells: results from 24 clones derived from a single C57BL/6 mouse.

    PLoS ONE 10(3):e0120585 (2015) PMID 25799070 PMCID PMC4370741

    Induced pluripotent stem cells (iPSCs) have tremendous potential as a tool for disease modeling, drug testing, and other applications. Since the generation of iPSCs "captures" the genetic history of the individual cell that was reprogrammed, iPSC clones (even those derived from the same individu...
  17. Genomic landscape of paediatric adrenocortical tumours.

    Nature Communications 6:6302 (2015) PMID 25743702 PMCID PMC4352712

    Paediatric adrenocortical carcinoma is a rare malignancy with poor prognosis. Here we analyse 37 adrenocortical tumours (ACTs) by whole-genome, whole-exome and/or transcriptome sequencing. Most cases (91%) show loss of heterozygosity (LOH) of chromosome 11p, with uniform selection against the ma...
  18. Genetic heterogeneity of induced pluripotent stem cells: results from 24 clones derived from a single C57BL/6 mouse.

    PLoS ONE 10(3):e0120585 (2015) PMID 25799070

    Induced pluripotent stem cells (iPSCs) have tremendous potential as a tool for disease modeling, drug testing, and other applications. Since the generation of iPSCs "captures" the genetic history of the individual cell that was reprogrammed, iPSC clones (even those derived from the same individu...
  19. Genetic heterogeneity of induced pluripotent stem cells: results from 24 clones derived from a single C57BL/6 mouse.

    PLoS ONE 10(3):e0120585 (2015) PMID 25799070 PMCID PMC4370741

    Induced pluripotent stem cells (iPSCs) have tremendous potential as a tool for disease modeling, drug testing, and other applications. Since the generation of iPSCs "captures" the genetic history of the individual cell that was reprogrammed, iPSC clones (even those derived from the same individu...
  20. Genome sequence of enterovirus D68 from St. Louis, Missouri, USA.

    Emerging Infectious Diseases 21(1):184 (2015) PMID 25532062 PMCID PMC4285240