Publications by authors named "TaraChandra Narumanchi"

Article Synopsis
  • * Seven living individuals from five families exhibited developmental issues like microcephaly and speech delays due to specific variants in the CEP55 gene, including a common missense variant and a splice site variant.
  • * The findings suggest that having a combination of missense and nonsense variants in CEP55 leads to a different, less severe phenotype compared to those with homozygous nonsense variants associated with MARCH syndrome.
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To assess the clinical utility of genome-wide oligonucleotide arrays in diagnosis of mental retardation and to address issues relating to interpretation of copy number changes (CNCs), we collected results on a total of 1499 proband patients from five academic diagnostic laboratories where the same 44K array platform has been used. Three of the five laboratories achieved a diagnostic yield of 14% and the other two had a yield of 11 and 7%, respectively. Approximately 80% of the abnormal cases had a single segment deletion or duplication, whereas the remaining 20% had a compound genomic imbalance involving two or more DNA segments.

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