Mendelian neurodevelopmental disorders customarily present with complex and overlapping
symptoms, complicating the clinical diagnosis. Individuals with a growing number of the so-…

Background: Molecular testing for JAK2 mutations is part of the standard diagnostic workup
for patients with suspected polycythemia vera. We sought to characterize evolving practice …

Atypical hemolytic uremic syndrome (aHUS) is characterized by microangiopathic hemolytic
anemia, thrombocytopenia, and renal impairment. Complement and coagulation gene …

Background The use of molecular genetic biomarkers is rapidly advancing to aid diagnosis,
prognosis, and clinical management of hematological disorders. We have implemented a …

The challenges and ambiguities in providing an accurate diagnosis for patients with
neurodevelopmental disorders have led researchers to apply epigenetics as a technique to validate …

Wiedemann–Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID)
condition associated with hypertrichosis cubiti, short stature, and characteristic facies …

Myelodysplastic neoplasms (MDS) with ring sideroblasts (RS) are diagnosed via bone marrow
aspiration in the presence of either (i) ≥15% RS or (ii) 5–14% RS and an SF3B1 mutation…

Background Personalized targeted therapies have transformed management of several
solid tumors. Timely and accurate detection of clinically relevant genetic variants in tumor is …

Myeloproliferative neoplasms (MPNs) are a group of chronic hematologic malignancies that
lead to morbidity and early mortality due to thrombotic complications and progression to …

Background Triple A syndrome is characterized by achalasia, alacrima and adrenal insufficiency
with neurological manifestations occurring later in the course of the disease. It occurs …