Background: Menkes disease (MD) is a rare X-linked connective tissue disorder of copper
metabolism caused by pathogenic variant (s) in ATP7A gene. The aim of the present study is …

Background: Genetic eye disorders, affecting around one in 1000 people, encompass a
diverse group of diseases causing severe visual deficiency. The recent adoption of next …

Hereditary blood diseases are prevalent in the Kingdom of Saudi Arabia. The majority of
these blood disorders are sickle cell disease and β-thalassemia with variants located on the …

Until now, rare disease studies have mainly been carried out by detecting simple variants
such as single nucleotide substitutions and short insertions and deletions in protein-coding …

Abstract Introduction The Undiagnosed Diseases Network (UDN), a clinical research study
funded by the National Institutes of Health, aims to provide answers for patients with …

Introduction: Whole-exome sequencing (WES) is becoming widely available in prenatal
diagnosis. However, as with most scientific methods, WES also has its limitations. The aim of …

Abstract In Australia, over 300,000 newborns undergo newborn bloodspot screening (NBS)
annually, with approximately 1 in 1,000 identified with a rare but actionable condition …

Rare genetic diseases often pose significant challenges for diagnosis. Over the past years,
RNA sequencing and other omics modalities have emerged as complementary strategies to …

· Turner syndrome is caused by a partial or complete deletion of one of the X chromosomes.
Xp deletion is a rarely reported cause of Turner syndrome. Here, we report the case of a 33 …

Inherited single amino acid substitutions are an important source of potential phenotypic
variation between individuals that can lead to disease risk (1, 2) and can contribute to …