Mucopolysaccharidosis type I (MPS I) is a rare inherited lysosomal disorder caused by
deficiency of the α-L-iduronidase enzyme, resulting in the progressive accumulation of …

The widespread use of whole exome sequencing (WES) resulted in the discovery of
multilocus pathogenic variations (MPV), defined as two or more distinct or overlapping …

In the last few years, trio-Whole Exome Sequencing (WES) analysis has revolutionized the
diagnostic process for patients with rare genetic syndromes, demonstrating its potential even …

Genomic sequencing and clinical genomics have demonstrated that substantial subsets of
atypical and/or severe disease presentations result from multilocus pathogenic variation …

Purpose Molecular diagnosis based on singleton exome sequencing (sES) is particularly
challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some studies …

Precision medicine is increasingly incorporated into clinical practice via three primary data
conduits: environmental, lifestyle, and genetic data. In this manuscript we take a closer look …

Abstract Background Among the approximately 8000 Mendelian disorders,> 1000 have
cutaneous manifestations. In many of these conditions, the underlying mutated genes have …

Neural networks have shown strong potential in research and in healthcare. Mainly due to
the need for large datasets, these applications have focused on common medical …

Alterations in the TAOK1 gene have recently emerged as the cause of developmental delay
with or without intellectual impairment or behavioral abnormalities (MIM# 619575). The 32 …

Purpose Wide access to clinical exome/genome sequencing (ES/GS) enables the
identification of multiple molecular diagnoses (MMDs), being a long-standing but …