Most patients with rare diseases do not receive a molecular diagnosis and the aetiological
variants and causative genes for more than half such disorders remain to be discovered 1 . …

Background The genetic cause of primary immunodeficiency disease (PID) carries prognostic
information. Objective We conducted a whole-genome sequencing study assessing a …

Inherited bleeding, thrombotic, and platelet disorders (BPDs) are diseases that affect ∼300
individuals per million births. With the exception of hemophilia and von Willebrand disease …

A targeted high-throughput sequencing (HTS) panel test for clinical diagnostics requires careful
consideration of the inclusion of appropriate diagnostic-grade genes, the ability to detect …

Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by
enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal …

Background: Pulmonary arterial hypertension (PAH) is a rare disease with an emerging
genetic basis. Heterozygous mutations in the gene encoding the bone morphogenetic protein …

Inherited bleeding, thrombotic, and platelet disorders (BTPD) are a heterogeneous set of
diseases. The most common inherited bleeding disorders are von Willebrand disease (VWD) …

Gray platelet syndrome (GPS) is a rare recessive disorder caused by biallelic variants in
NBEAL2 and characterized by bleeding symptoms, the absence of platelet α-granules, …

Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can
result from various causes, including inherited predisposition. Currently, germline genetic …

We have identified 9 affected individuals from 3 unrelated families with macrothrombocytopenia
and mild to moderate bleeding diathesis inherited due to missense mutations in the …