Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a
combination of rare de novo and inherited variants as well as common variants in at least …

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong
genetic component in which rare variants contribute significantly to risk. We performed …

Recently, deleterious variants in the BR serine/threonine kinase 2 (BRSK2) gene have been
reported in patients with autism spectrum disorder (ASD), suggesting that BRSK2 is a new …

De novo variants (DNVs) analysis has proven to be a powerful approach to gene discovery
in Autism Spectrum Disorder (ASD), which has not yet been shown in a Brazilian ASD …

Rape is associated with a high risk for posttraumatic stress disorder (PTSD). DNA
methylation changes may confer risk or protection for PTSD following rape by regulating the …

Background: Autosomal dominant polycystic kidney disease (ADPKD) is a condition usually
caused by a single gene mutation and manifested by both renal and extrarenal features …

In the last decade, Autism has broadened and often shifted its diagnostics criteria, allowing
several neuropsychiatric and neurological disorders of known etiology. This has resulted in …

Background: The desire of parents to obtain a genetic diagnosis for their child with
intellectual disability and associated symptoms has long been framed as a diagnostic …

Background The genetic make-up of local granulosa cells and their function in the
pathophysiology of polycystic ovary syndrome (PCOS) is crucial to a full comprehension of …

Background As one of the most common congenital abnormalities in male births,
cryptorchidism has been found to have a polygenic aetiology according to previous studies …