Publications (37) Noa Carrera Cachaza publications

2023

  1. Genetic testing in focal segmental glomerulosclerosis: in whom and when?

    Clinical Kidney Journal, Vol. 16, Núm. 11, pp. 2011-2022

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

    Cell Genomics, Vol. 3, Núm. 8

  3. Using brain cell-type-specific protein interactomes to interpret neurodevelopmental genetic signals in schizophrenia

    iScience, Vol. 26, Núm. 5

2022

  1. Genetic Kidney Diseases (GKDs) Modeling Using Genome Editing Technologies

    Cells, Vol. 11, Núm. 9

  2. Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders

    Biological Psychiatry, Vol. 91, Núm. 1, pp. 102-117

2021

  1. A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts

    Biological Psychiatry, Vol. 90, Núm. 9, pp. 611-620

  2. A polygenic resilience score moderates the genetic risk for schizophrenia

    Molecular Psychiatry, Vol. 26, Núm. 3, pp. 800-815

2020

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

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

  2. De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia

    Nature Neuroscience, Vol. 23, Núm. 2, pp. 179-184

2019

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

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

  2. Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia

    American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 180, Núm. 3, pp. 223-231

  3. Publisher Correction: Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection (Nature Genetics, (2018), 50, 3, (381-389), 10.1038/s41588-018-0059-2)

    Nature Genetics

  4. 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

  5. Targeted Sequencing of 10,198 Samples Confirms Abnormalities in Neuronal Activity and Implicates Voltage-Gated Sodium Channels in Schizophrenia Pathogenesis

    Biological Psychiatry, Vol. 85, Núm. 7, pp. 554-562

2018

  1. A correction for sample overlap in genome-wide association studies in a polygenic pleiotropy-informed framework

    BMC Genomics, Vol. 19, Núm. 1

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

    Scientific Reports, Vol. 8, Núm. 1

  3. Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection

    Nature Genetics, Vol. 50, Núm. 3, pp. 381-389

  4. Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood

    American Journal of Human Genetics, Vol. 102, Núm. 6, pp. 1185-1194

  5. Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

    Cell, Vol. 173, Núm. 7, pp. 1705-1715.e16

  6. Identification of putative second genetic hits in schizophrenia carriers of high-risk copy number variants and resequencing in additional samples

    European Archives of Psychiatry and Clinical Neuroscience, Vol. 268, Núm. 6, pp. 585-592