Publications by authors named "J A Neidich"

Pathogenic variants in the receptor tyrosine kinase TIE2, encoded by TEK, are known to cause vascular malformations (VMs). In this study, we retrospectively reviewed the deidentified data generated through clinical NGS testing in our laboratory and found 88 VM cases with a total of 107 clinically significant TEK variants. Among those, 23 unique variants at the amino acid level were identified, including five novel (p.

View Article and Find Full Text PDF
Article Synopsis
  • Disorders of somatic mosaicism (DoSMs) are rare genetic conditions that occur due to changes in cells after fertilization, and current guidelines for genetic variant interpretation are not well-suited for these disorders.* -
  • The Brain Malformations Variant Curation Expert Panel (BMVCEP) has adapted existing guidelines for brain-related DoSMs, but their applicability to other DoSM types is limited.* -
  • Researchers at Washington University have made modifications to the BMVCEP framework to enhance variant classification for broader DoSMs, which could lead to more accurate diagnoses and better clinical care.*
View Article and Find Full Text PDF
Article Synopsis
  • A study looked at how to find out why some babies are born with problems, known as congenital anomalies (CAs), especially in families where cousins marry.
  • They tested different methods on 168 kids with CAs, finding that a method called exome sequencing (ES) worked better than another method called chromosomal microarray analysis (CMA) for families where cousins marry.
  • The results suggest that using ES first can help doctors discover these problems more effectively in those families.
View Article and Find Full Text PDF