Page 88 - MemoriaCIBER-2018ESP

Effect of Hydrolyzed Infant Formula vs Conventional Formula on Risk of Type 1 Diabetes: The TRIGR Randomized Clinical Trial.JAMA01. 319(1):38-48
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.Nat Rev GenetOct. 19(10):649-666
Paternally inherited cis-regulatory structural variants are associated with autism. Science04. 360(6386):327-331
Analysis of shared heritability in common disorders of the brain.Science06. 360(6395)
MAGE-A3 immunotherapeutic as adjuvant therapy for patients with resected, MAGE-A3-positive, stage III melanoma (DERMA): a double-blind, randomised, placebo-controlled, phase 3 trial.Lancet OncolJul. 19(7):916-929
Sex as a predictor of response to cancer immunotherapy.Lancet OncolAug. 19(8):e375
Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.Nat GenetJul. 50(7):928-936
A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.Nat GenetJul. 50(7):968-978
De novo variants in neurodevelopmental disorders with epilepsy.Nat GenetJul. 50(7):1048-1053
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44,405 40,282 37,205 37,205
33,900
33,900 27,959 27,959 27,959
Patentes con titularidad CIBER
Solicitadas
• EP18382322.8. Patente Europea. DNA damage repair disease therapies. Grupo Jordi Surrallès
• EP18382527.2. Patente Europea. Therapeutic
Guías clínicas
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
• Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus.
• Inborn Errors of Metabolism Overview:
use of afatinib in cancer. Grupo Jordi Surrallès
• 62/712,146. Patente USA. Methods for Gene Modification of Hematopoietic Cells. Grupo Juan Bueren
• 62/573,037. Patente USA. Lentiviral Vectors for Delivery of PKLR to Treat Protein Kinase Deficiency. Grupo Juan Bueren
• EP18382917.5. Patente Europea. Treatment and prevention of glioblastoma. Grupo Luisa Botella.
Pathophysiology, Manifestations, Evaluation, and Management.
• Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer.
• [Management guidelines for disorders / different sex development (DSD)].
• Consensus on insulin treatment in type 2 diabetes.
• Fragile X syndrome: An overview and update of the FMR1 gene.
CIBERER | MEMORIA ANUAL 2018