Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease
characterized by progressive central nervous system degeneration manifest as severe intellectual …

We identified six novel de novo human KCNQ5 variants in children with motor/language
delay, intellectual disability (ID), and/or epilepsy by whole exome sequencing. These variants, …

Genetic counselors have a unique role in healthcare that requires a balance between being
a patient educator and patient advocate when discussing disability. This study aimed to …

The chromosomes in the oocytes of many animals appear to promote bipolar spindle assembly.
In Drosophila oocytes, spindle assembly requires the chromosome passenger complex (…

Cornelia de Lange syndrome (CdLS) is an autosomal dominant genetic disorder caused by
pathogenic variants in NIPBL, RAD21, SMC3, HDAC8, or SMC1A; all of which code for …

Pregnancy termination for fetal anomaly (TFA) is a unique experience that can cause
women to develop long‐term complicated grief. Although a woman's experience with her …

Identifying genetic diagnoses for neurologic conditions with a considerable hereditary
component, such as autism spectrum disorder, intellectual disability, and epilepsy, is critical to …

Type 1 Gaucher disease (GD) is the most common lysosomal storage disorder. Previously,
treatment for GD was limited to intravenous enzyme replacement therapies (ERTs). More …

The chromosomes in the oocytes of many animals appear to promote bipolar spindle assembly.
In Drosophila oocytes, spindle assembly requires the chromosome passenger complex (…

The chromosomes in the oocytes of many animals appear to promote bipolar spindle assembly.
In Drosophila oocytes, spindle assembly requires the chromosomal passenger complex (…