Publicacions en col·laboració amb investigadors/es de Charité (35)

2023

  1. Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3

    Nature Communications, Vol. 14, Núm. 1

  2. Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))

    Nature communications

  3. Induction of kidney-related gene programs through co-option of SALL1 in mole ovotestes

    Development (Cambridge), Vol. 150, Núm. 17

  4. Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3 (Nature Communications, (2023), 14, 1, (1475), 10.1038/s41467-023-37057-z)

    Nature Communications

2022

  1. In vivo dissection of a clustered-CTCF domain boundary reveals developmental principles of regulatory insulation

    Nature Genetics, Vol. 54, Núm. 7, pp. 1026-1036

  2. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

2021

  1. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

  2. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

  3. Increased risk of severe clinical course of COVID-19 in carriers of HLA-C*04:01

    eClinicalMedicine, Vol. 40

  4. Position effects at the FGF8 locus are associated with femoral hypoplasia

    American Journal of Human Genetics, Vol. 108, Núm. 9, pp. 1725-1734

2020

  1. Five insights from the Global Burden of Disease Study 2019

    The Lancet, Vol. 396, Núm. 10258, pp. 1135-1159

  2. Global age-sex-specific fertility, mortality, healthy life expectancy (HALE), and population estimates in 204 countries and territories, 1950–2019: a comprehensive demographic analysis for the Global Burden of Disease Study 2019

    The Lancet, Vol. 396, Núm. 10258, pp. 1160-1203

  3. Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease Study 2019

    The Lancet, Vol. 396, Núm. 10258, pp. 1204-1222

  4. Global burden of 87 risk factors in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease Study 2019

    The Lancet, Vol. 396, Núm. 10258, pp. 1223-1249

  5. Measuring universal health coverage based on an index of effective coverage of health services in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease Study 2019

    The Lancet, Vol. 396, Núm. 10258, pp. 1250-1284

  6. The mole genome reveals regulatory rearrangements associated with adaptive intersexuality

    Science, Vol. 370, Núm. 6513, pp. 208-214

2019

  1. Functional dissection of the Sox9–Kcnj2 locus identifies nonessential and instructive roles of TAD architecture

    Nature Genetics, Vol. 51, Núm. 8, pp. 1263-1271

  2. GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution

    BMC Genomics, Vol. 20, Núm. 1

2018

  1. Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis

    Nature Genetics, Vol. 50, Núm. 10, pp. 1463-1473

  2. Polymer physics predicts the effects of structural variants on chromatin architecture

    Nature Genetics, Vol. 50, Núm. 5, pp. 662-667