User profiles for Noa Carrera
Noa CarreraIDIS - NefroCHUS Verified email at sergas.es Cited by 13113 |
De novo mutations in schizophrenia implicate synaptic networks
Inherited alleles account for most of the genetic risk for schizophrenia. However, new (de
novo) mutations, in the form of large chromosomal copy number changes, occur in a small …
novo) mutations, in the form of large chromosomal copy number changes, occur in a small …
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection
Schizophrenia is a debilitating psychiatric condition often associated with poor quality of life
and decreased life expectancy. Lack of progress in improving treatment outcomes has been …
and decreased life expectancy. Lack of progress in improving treatment outcomes has been …
[PDF][PDF] Modeling linkage disequilibrium increases accuracy of polygenic risk scores
…, D Campion, RM Cantor, VJ Carr, N Carrera… - The american journal of …, 2015 - cell.com
Polygenic risk scores have shown great promise in predicting complex disease risk and will
become more accurate as training sample sizes increase. The standard approach for …
become more accurate as training sample sizes increase. The standard approach for …
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Copy number variants (CNVs) have been strongly implicated in the genetic etiology of
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has …
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has …
[PDF][PDF] Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases
…, D Campion, RM Cantor, VJ Carr, N Carrera… - The American Journal of …, 2014 - cell.com
Regulatory and coding variants are known to be enriched with associations identified by
genome-wide association studies (GWASs) of complex disease, but their contributions to trait …
genome-wide association studies (GWASs) of complex disease, but their contributions to trait …
[PDF][PDF] Genomic dissection of bipolar disorder and schizophrenia, including 28 subphenotypes
…, D Campion, RM Cantor, VJ Carr, N Carrera… - Cell, 2018 - cell.com
Schizophrenia and bipolar disorder are two distinct diagnoses that share symptomology.
Understanding the genetic factors contributing to the shared and disorder-specific symptoms …
Understanding the genetic factors contributing to the shared and disorder-specific symptoms …
[HTML][HTML] Molecular basis, diagnostic challenges and therapeutic approaches of Bartter and Gitelman syndromes: a primer for clinicians
L Nuņez-Gonzalez, N Carrera… - International Journal of …, 2021 - mdpi.com
Gitelman and Bartter syndromes are rare inherited diseases that belong to the category of
renal tubulopathies. The genes associated with these pathologies encode electrolyte transport …
renal tubulopathies. The genes associated with these pathologies encode electrolyte transport …
A comparison of ten polygenic score methods for psychiatric disorders applied across multiple cohorts
…, G Cai, D Campion, RM Cantor, VJ Carr, N Carrera… - Biological …, 2021 - Elsevier
Background Polygenic scores (PGSs), which assess the genetic risk of individuals for a disease,
are calculated as a weighted count of risk alleles identified in genome-wide association …
are calculated as a weighted count of risk alleles identified in genome-wide association …
De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia
Schizophrenia is a highly polygenic disorder with important contributions from both common
and rare risk alleles. We analyzed exome sequencing data for de novo variants (DNVs) in a …
and rare risk alleles. We analyzed exome sequencing data for de novo variants (DNVs) in a …
[PDF][PDF] Estimation of genetic correlation via linkage disequilibrium score regression and genomic restricted maximum likelihood
Genetic correlation is a key population parameter that describes the shared genetic architecture
of complex traits and diseases. It can be estimated by current state-of-art methods, ie, …
of complex traits and diseases. It can be estimated by current state-of-art methods, ie, …