Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia e Pediatría
Departamento
Icahn School of Medicine at Mount Sinai
Nueva York, Estados UnidosPublicacións en colaboración con investigadores/as de 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