Publicacións en colaboración con investigadores/as de Boston Children's Hospital (21)

2024

  1. AI is a viable alternative to high throughput screening: a 318-target study

    Scientific Reports, Vol. 14, Núm. 1

  2. Correction to: AI is a viable alternative to high throughput screening: a 318-target study (Scientific Reports, (2024), 14, 1, (7526), 10.1038/s41598-024-54655-z)

    Scientific Reports

2023

  1. Author Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing (Nature Genetics, (2020), 52, 3, (331-341), 10.1038/s41588-019-0576-7)

    Nature Genetics

  2. Author Correction: Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer (Nature Genetics, (2020), 52, 3, (294-305), 10.1038/s41588-019-0564-y)

    Nature Genetics

  3. Author Correction: Patterns of somatic structural variation in human cancer genomes (Nature, (2020), 578, 7793, (112-121), 10.1038/s41586-019-1913-9)

    Nature

  4. Correction to: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing (Nature Genetics, (2020), 52, 3, (331-341), 10.1038/s41588-019-0576-7)

    Nature Genetics

2022

  1. Author Correction: Genomic footprints of activated telomere maintenance mechanisms in cancer (Nature Communications, (2020), 11, 1, (733), 10.1038/s41467-019-13824-9)

    Nature Communications

  2. Author Correction: High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations (Nature Communications, (2020), 11, 1, (736), 10.1038/s41467-019-13885-w)

    Nature Communications

  3. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

    Nature Genetics, Vol. 54, Núm. 9, pp. 1320-1331

2020

  1. Analyses of non-coding somatic drivers in 2,658 cancer whole genomes

    Nature, Vol. 578, Núm. 7793, pp. 102-111

  2. Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

    Nature Genetics, Vol. 52, Núm. 3, pp. 331-341

  3. Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

    Nature Genetics, Vol. 52, Núm. 3, pp. 294-305

  4. Genomic footprints of activated telomere maintenance mechanisms in cancer

    Nature Communications, Vol. 11, Núm. 1

  5. High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations

    Nature Communications, Vol. 11, Núm. 1

  6. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    Cell, Vol. 180, Núm. 3, pp. 568-584.e23

  7. Patterns of somatic structural variation in human cancer genomes

    Nature, Vol. 578, Núm. 7793, pp. 112-121

  8. Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder (Nature Neuroscience, (2017), 20, 9, (1217-1224), 10.1038/nn.4598)

    Nature Neuroscience

2019

  1. Zfp281 (ZBP-99) plays a functionally redundant role with Zfp148 (ZBP-89) during erythroid development

    Blood Advances, Vol. 3, Núm. 16, pp. 2499-2511

2017

  1. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

    Nature Neuroscience, Vol. 20, Núm. 9, pp. 1217-1224

2014

  1. Synaptic, transcriptional and chromatin genes disrupted in autism

    Nature, Vol. 515, Núm. 7526, pp. 209-215