• A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3
• A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome
• A prognostic model for use before elective surgery to estimate the risk of postoperative pulmonary complications (GSU-Pulmonary Score): a development and validation study in three international cohorts
• Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation
• Autosomal dominant sacral agenesis: Currarino syndrome
• Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11
• De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
• Death following pulmonary complications of surgery before and during the SARS-CoV-2 pandemic
• Efficacy and Safety of NVX-CoV2373 in Adults in the United States and Mexico
• Efficacy and Safety of the mRNA-1273 SARS-CoV-2 Vaccine
• Efficacy of the mRNA-1273 SARS-CoV-2 Vaccine at Completion of Blinded Phase
• Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity
• Genomic reconstruction of the SARS-CoV-2 epidemic in England
• Immunomodulatory therapy in children with paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS, MIS-C; RECOVERY): a randomised, controlled, open-label, platform trial
• Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome
• New-onset atrial fibrillation and chronic coronary syndrome in the CLARIFY registry
• PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28
• The 2012 Canadian hypertension education program recommendations for the management of hypertension: blood pressure measurement, diagnosis, assessment of risk, and therapy
• Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus