[HTML][HTML] The genomics of schizophrenia: update and implications

P Giusti-Rodríguez, PF Sullivan - The Journal of clinical …, 2013 - Am Soc Clin Investig
Schizophrenia is strongly familial yet rarely (if ever) exhibits classical Mendelian inheritance
patterns. The advent of large-scale genotyping and sequencing projects has yielded large …

Integrative functional genomic analysis of human brain development and neuropsychiatric risks

…, D Wang, B Lorente-Galdos, S Liu, P Giusti-Rodríguez… - Science, 2018 - science.org
INTRODUCTION The brain is responsible for cognition, behavior, and much of what makes
us uniquely human. The development of the brain is a highly complex process, and this …

Cross-ancestry genomic research: time to close the gap

…, JL Montalvo-Ortiz, P Giusti-Rodriguez… - …, 2022 - nature.com
Genome-wide association studies (GWAS) have revolutionized our ability to understand the
genetic underpinnings of biomedical traits; however, their extreme Eurocentric bias has …

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

…, SE Medland, S Ripke, S Yao, P Giusti-Rodríguez… - Nature …, 2019 - nature.com
Characterized primarily by a low body-mass index, anorexia nervosa is a complex and
serious illness 1 , affecting 0.9–4% of women and 0.3% of men 2 , 3 – 4 , with twin-based …

A comparison of ten polygenic score methods for psychiatric disorders applied across multiple cohorts

…, L Georgieva, I Giegling, P Giusti-Rodríguez… - 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 …

Comparative genomic evidence for the involvement of schizophrenia risk genes in antipsychotic effects

Y Kim, P Giusti-Rodriguez, JJ Crowley, J Bryois… - Molecular …, 2018 - nature.com
Genome-wide association studies (GWAS) for schizophrenia have identified over 100 loci
encoding> 500 genes. It is unclear whether any of these genes, other than dopamine receptor …

[HTML][HTML] Non-coding variability at the APOE locus contributes to the Alzheimer's risk

…, FC Ip, Y Chen, N Mullapudi, P Giusti-Rodríguez… - Nature …, 2019 - nature.com
Alzheimer’s disease (AD) is a leading cause of mortality in the elderly. While the coding
change of APOE-ε4 is a key risk factor for late-onset AD and has been believed to be the only …

[PDF][PDF] Estimation of genetic correlation via linkage disequilibrium score regression and genomic restricted maximum likelihood

…, L Georgieva, I Giegling, P Giusti-Rodríguez… - The American Journal of …, 2018 - cell.com
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, …

[HTML][HTML] Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia

…, J Wen, S Netotea, P Giusti-Rodriguez… - Nature …, 2020 - nature.com
… Second, we used the “easy-HiC” readouts obtained from adult temporal cortex as described
in Giusti-Rodríguez et al. . “Easy Hi–C” was applied to six postmortem samples (N = 3 adult …

Using three-dimensional regulatory chromatin interactions from adult and fetal cortex to interpret genetic results for psychiatric disorders and cognitive traits

P Giusti-Rodríguez, L Lu, Y Yang, CA Crowley, X Liu… - BioRxiv, 2018 - biorxiv.org
Most human genetic studies assume that connections between genomic regions are adequately
captured by linkage disequilibrium (LD). LD reflects historical events that shaped the …