To assess factors influencing the success of whole-genome sequencing for mainstream
clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families …

Autism is a neurodevelopmental disorder of unclear etiology. The consistent finding of platelet
hyperserotonemia in a proportion of patients and its heritability within affected families …

Congenital erythrocytosis ( CE ), or congenital polycythemia, represents a rare and heterogeneous
clinical entity. It is caused by deregulated red blood cell production where erythrocyte …

Sickle Cell Disease ( SCD ) is an increasing global health problem and presents significant
challenges to European health care systems. Newborn screening ( NBS ) for SCD enables …

Chuvash polycythemia is an autosomal recessive form of erythrocytosis associated with a
homozygous p.Arg200Trp mutation in the von Hippel-Lindau (VHL) gene. Since this discovery, …

Erythrocytosis is a rare disorder characterized by increased red cell mass and elevated
hemoglobin concentration and hematocrit. Several genetic variants have been identified as …

Introduction Congenital erythrocytosis can be classified as primary, when the defect is intrinsic
to the RBC progenitors and independent of the serum erythropoietin ( E po) concentration…

The hypothesis of an immune dysfunction in autism spectrum disorders has previously been
put forward without, however, compelling evidence of a direct relation to its etiology or …

Background Whole genome sequencing is increasingly being used for the diagnosis of
patients with rare diseases. However, the diagnostic yields of many studies, particularly those …

The transcription of the erythropoietin (EPO) gene is tightly regulated by the hypoxia response
pathway to maintain oxygen homeostasis. Elevations in serum EPO level may be reflected …