Department of Forensic Science, Pathological Anatomy, Gynaecology and Obstetrics and Paediatrics
Department
Icahn School of Medicine at Mount Sinai
Nueva York, Estados UnidosPublications in collaboration with researchers from Icahn School of Medicine at Mount Sinai (37)
2024
-
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Genetics in Medicine, Vol. 26, Núm. 4
2023
-
A second update on mapping the human genetic architecture of COVID-19
Nature
-
Differences in Patterns of Stimulant Use and Their Impact on First-Episode Psychosis Incidence: An Analysis of the EUGEI Study
Schizophrenia Bulletin, Vol. 49, Núm. 5, pp. 1269-1280
-
Immunoglobulin, glucocorticoid, or combination therapy for multisystem inflammatory syndrome in children: a propensity-weighted cohort study
The Lancet Rheumatology, Vol. 5, Núm. 4, pp. e184-e199
2022
-
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
PLoS genetics, Vol. 18, Núm. 11, pp. e1010367
-
New insights into the genetic etiology of Alzheimer's disease and related dementias
Nature genetics, Vol. 54, Núm. 4, pp. 412-436
-
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Nature Genetics, Vol. 54, Núm. 9, pp. 1320-1331
-
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
European Journal of Human Genetics, Vol. 30, Núm. 8, pp. 938-945
2021
-
Association of Rare CYP39A1 Variants with Exfoliation Syndrome Involving the Anterior Chamber of the Eye
JAMA - Journal of the American Medical Association, Vol. 325, Núm. 8, pp. 753-764
-
Cognitive functioning throughout adulthood and illness stages in individuals with psychotic disorders and their unaffected siblings
Molecular Psychiatry, Vol. 26, Núm. 8, pp. 4529-4543
-
Detectable A Disintegrin and Metalloproteinase with Thrombospondin Motifs-1 in Serum Is Associated with Adverse Outcome in Pediatric Sepsis
Critical Care Explorations, Vol. 3, Núm. 11, pp. E0569
-
TIPICO X: report of the 10th interactive infectious disease workshop on infectious diseases and vaccines
Human Vaccines and Immunotherapeutics
-
TIPICO XI: report of the first series and podcast on infectious diseases and vaccines (aTIPICO)
Human Vaccines and Immunotherapeutics, Vol. 17, Núm. 11, pp. 4299-4327
-
The continuity of effect of schizophrenia polygenic risk score and patterns of cannabis use on transdiagnostic symptom dimensions at first-episode psychosis: findings from the EU-GEI study
Translational Psychiatry, Vol. 11, Núm. 1
-
Treatment of Multisystem Inflammatory Syndrome in Children
New England Journal of Medicine, Vol. 385, Núm. 1, pp. 11-22
2020
-
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
Cell, Vol. 180, Núm. 3, pp. 568-584.e23
-
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
Scientific Reports, Vol. 10, Núm. 1
-
Premorbid Adjustment and IQ in Patients with First-Episode Psychosis: A Multisite Case-Control Study of Their Relationship with Cannabis Use
Schizophrenia Bulletin, Vol. 46, Núm. 3, pp. 517-529
-
Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder (Nature Neuroscience, (2017), 20, 9, (1217-1224), 10.1038/nn.4598)
Nature Neuroscience
-
The EUropean Network of National Schizophrenia Networks Studying Gene–Environment Interactions (EU-GEI): Incidence and First-Episode Case–Control Programme
Social Psychiatry and Psychiatric Epidemiology, Vol. 55, Núm. 5, pp. 645-657