Wolf-Hirschhorn syndrome (WHS) is caused by deletion of a critical region of the short arm
of chromosome 4. Clinical features of WHS include distinct dysmorphic facial features …

Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis of
rare diseases. The publication of episignatures as effective biomarkers of certain Mendelian …

Purpose BCL11B-related disorder (BCL11B-RD) arises from rare genetic variants within the
BCL11B gene, resulting in a distinctive clinical spectrum encompassing syndromic …

Episignatures are popular tools for the diagnosis of rare neurodevelopmental disorders.
They are commonly based on a set of differentially methylated CpGs used in combination …

The etiology of neurodevelopmental disorders (NDDs) remains a challenge for researchers.
Human brain development is tightly regulated and sensitive to cellular alterations caused by …

Pathogenic variants in KANSL1 and 17q21. 31 microdeletions are causative of Koolen-de
Vries syndrome (KdVS), a neurodevelopmental syndrome with characteristic facial …

Purpose: Multi-omics offer worthwhile and increasingly accessible technologies to
diagnostic laboratories seeking potential second-tier strategies to help patients with …

The field of cancer genomics and transcriptomics has evolved from targeted profiling to swift
sequencing of individual tumor genome and transcriptome. The steady growth in genome …

Abstract Purpose Witteveen-Kolk syndrome (WITKOS) is a rare, autosomal dominant
neurodevelopmental disorder caused by heterozygous loss-of-function alterations in the …

Initially described as a triad of immunodeficiency, congenital heart defects and
hypoparathyroidism, 22q11. 2 deletion syndrome (22q11. 2DS) now encompasses a great …