Publicacións en colaboración con investigadores/as de Boston Children's Hospital (29)

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

  3. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

    Genetics in Medicine, Vol. 26, Núm. 4

2023

  1. Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions

    Cell Genomics, Vol. 3, Núm. 8

2022

  1. Author Correction: Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease (Nature Communications, (2020), 11, 1, (995), 10.1038/s41467-019-14275-y)

    Nature Communications

  2. Galactose epimerase deficiency: lessons from the GalNet registry

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 331

  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. COVID-19 and neurointerventional service worldwide: A survey of the European Society of Minimally Invasive Neurological Therapy (ESMINT), the Society of NeuroInterventional Surgery (SNIS), the Sociedad Iberolatinoamericana de Neuroradiologia Diagnostica y Terapeutica (SILAN), the Society of Vascular and Interventional Neurology (SVIN), and the World Federation of Interventional and Therapeutic Neuroradiology (WFITN)

    Journal of NeuroInterventional Surgery, Vol. 12, Núm. 8, pp. 726-730

  2. Complement genes contribute sex-biased vulnerability in diverse disorders

    Nature, Vol. 582, Núm. 7813, pp. 577-581

  3. 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

  4. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

    Scientific Reports, Vol. 10, Núm. 1

  5. Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

    Nature Communications, Vol. 11, Núm. 1

2019

  1. Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

    Nature Genetics, Vol. 51, Núm. 4, pp. 659-674

  2. Publisher Correction: Gene expression imputation across multiple brain regions provides insights into schizophrenia risk (Nature Genetics, (2019), 51, 4, (659-674), 10.1038/s41588-019-0364-4)

    Nature Genetics

  3. The natural history of classic galactosemia: Lessons from the GalNet registry

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  4. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 93-106

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

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

2018

  1. Age at first birth in women is genetically associated with increased risk of schizophrenia

    Scientific Reports, Vol. 8, Núm. 1

2017

  1. Antibiotic Use in Children – A Cross-National Analysis of 6 Countries

    Journal of Pediatrics, Vol. 182, pp. 239-244.e1

  2. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

    Nature Genetics, Vol. 49, Núm. 1, pp. 27-35