Publications by authors named "Timothy Wilks"
Normal development of the genitourinary (GU) tract is a complex process that frequently goes awry. In male children the most frequent congenital GU anomalies are cryptorchidism (1-4%), hypospadias (1%) and micropenis (0.35%).
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- Rare copy number variants (CNVs) affecting ASTN2 and TRIM32 were found in individuals with neurodevelopmental disorders (NDDs), highlighting their possible link to conditions like autism and ADHD.
- A large study screened nearly 90,000 individuals, uncovering 46 deletions and 12 duplications of ASTN2, particularly enriched in NDD subjects compared to controls.
- The research shows that certain ASTN2 deletions are more common in males and suggests astrotactins play a significant role in brain development and associated psychopathology.
Objective: To test the hypothesis that chromosomal microarray analysis frequently diagnoses conditions that require specific medical follow-up and that referring physicians respond appropriately to abnormal test results.
Methods: A total of 46,298 postnatal patients were tested by chromosomal microarray analysis for a variety of indications, most commonly intellectual disability/developmental delay, congenital anomalies, dysmorphic features, and neurobehavioral problems. The frequency of detection of abnormalities associated with actionable clinical features was tallied, and the rate of physician response to a subset of abnormal tests results was monitored.