BACKGROUND: Previous genetic studies investigating a possible involvement of variations
at the brain derived neurotrophic factor (BDNF) gene locus in major depressive disorder (…

We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from
54 countries with a wide phenotypic spectrum. Clinical information given by the requesting …

Objective Autosomal recessive pathogenic variants of the SLC13A5 gene are associated
with severe neonatal epilepsy, developmental delay, and tooth hypoplasia/hypodontia. We …

Epilepsy is a frequent feature of neurodevelopmental disorders (NDDs), but little is known
about genetic differences between NDDs with and without epilepsy. We analyzed de novo …

Intellectual disability inherited in an autosomal-recessive fashion represents an important
fraction of severe cognitive-dysfunction disorders. Yet, the extreme heterogeneity of these …

Androgenetic alopecia (AGA), or male-pattern baldness, is the most common form of hair
loss. Its pathogenesis is androgen dependent, and genetic predisposition is the major …

Background We aimed for a comprehensive delineation of genetic, functional and phenotypic
aspects of GRIN2B encephalopathy and explored potential prospects of personalised …

Several independent studies and meta-analyses aimed at identifying genomic regions linked
to bipolar disorder (BP) have failed to find clear and consistent evidence of linkage regions…

… Author Contributions: Drs Reis and Abou Jamra contributed equally to this study, had full
access to all the data in the study, and take responsibility for the integrity of the data and the …

Manganese (Mn) and zinc (Zn) are essential divalent cations used by cells as protein cofactors;
various human studies and animal models have demonstrated the importance of Mn and …