We describe an X-linked genetic syndrome associated with mutations in TAF1 and
manifesting with global developmental delay, intellectual disability (ID), characteristic facial …

As the second most common type of variation in the human genome, insertions and deletions
(indels) have been linked to many diseases, but the discovery of indels of more than a few …

… L.2.3, excitatory neurons of cortical layers 2 and 3; Exc.L.4.5, excitatory neurons of
cortical layers 4 and 5; L6.CT, excitatory corticothalamic neurons of layer 6; iGABA, iPSCderived …

Background Human Phenotype Ontology (HPO) has risen as a useful tool for precision
medicine by providing a standardized vocabulary of phenotypic abnormalities to describe …

Schizophrenia (SCZ) is a highly polygenic disease and genome wide association studies
have identified thousands of genetic variants that are statistically associated with this …

Background INDELs, especially those disrupting protein-coding regions of the genome, have
been strongly associated with human diseases. However, there are still many errors with …

Autism spectrum disorders (ASDs) are a group of developmental disabilities that affect social
interaction and communication and are characterized by repetitive behaviors. There is now …

Human genetic studies have provided a wealth of information on genetic risk factors
associated with neuropsychiatric diseases. However, whether different brain cell types are …

Genome-wide association studies have unearthed a wealth of genetic associations across
many complex diseases. However, translating these associations into biological mechanisms …

We compiled an updated database of all Agave species found in Mexico and analyzed it with
specific criteria according to their biological parameters to evaluate the conservation and …