Publicacións en colaboración con investigadores/as de Hospital Universitario de la Princesa (12)

2023

  1. Machine Learning Improves Risk Stratification in Myelofibrosis: An Analysis of the Spanish Registry of Myelofibrosis

    HemaSphere, Vol. 7, Núm. 1, pp. E818

2021

  1. Long runs of homozygosity are associated with Alzheimer’s disease

    Translational Psychiatry, Vol. 11, Núm. 1

2019

  1. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

    Alzheimer's and Dementia, Vol. 15, Núm. 10, pp. 1333-1347

  2. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

    Human Mutation, Vol. 40, Núm. 9, pp. 1557-1578

2015

  1. Analysis of IGF(CA)19 and IGFBP3-202A/C gene polymorphisms in patients with acromegaly: Association with clinical presentation and response to treatments

    European Journal of Endocrinology, Vol. 172, Núm. 2, pp. 115-122

  2. Exome-wide pharmacogenomic analysis of response to thiopurines in inflammatory bowel disease patients

    Current Pharmacogenomics and Personalized Medicine, Vol. 13, Núm. 1, pp. 61-67

2013

  1. New genetic associations in thiopurine-related bone marrow toxicity among inflammatory bowel disease patients

    Pharmacogenomics, Vol. 14, Núm. 6, pp. 631-640

  2. Supercomplex assembly determines electron flux in the mitochondrial electron transport chain

    Science, Vol. 340, Núm. 6140, pp. 1567-1570

2011

  1. Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: Prevalence, evolution of hormone dysfunction and genetic analysis

    Neuroendocrinology, Vol. 93, Núm. 3, pp. 181-188

2010

  1. Pegvisomant-induced liver injury is related to the UGT1A1*28 polymorphism of Gilbert's syndrome

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 5, pp. 2147-2154

  2. The exon 3-deleted growth hormone receptor is associated with better response to pegvisomant therapy in acromegaly

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 1, pp. 222-229

2008

  1. Marcadores moleculares asociados a signos precoces de isquemia en tomografía computarizada cerebral

    Neurologia, Vol. 23, Núm. 4, pp. 220-225