With a wealth of disease-associated DNA variants being recently reported, the challenges
of providing their functional characterization are mounting. Previously, as part of a large …

Loss-of-function mutations in UPF3B result in variable clinical presentations including
intellectual disability (ID, syndromic and non-syndromic), autism, childhood onset schizophrenia …

First reported in 1999, germline runt-related transcription factor 1 (RUNX1) mutations are a
well-established cause of familial platelet disorder with predisposition to myeloid malignancy (…

Individuals with germ line variants associated with hereditary hematopoietic malignancies (HHMs)
have a highly variable risk for leukemogenesis. Gaps in our understanding of …

There is increasing recognition that pathogenic germ line variants drive the development of
hematopoietic cancers in many individuals. Currently, patients with hereditary hematologic …

Hereditary platelet disorders (HPDs) are a group of blood disorders with variable severity and
clinical impact. Although phenotypically there is much overlap, known genetic causes are …

Familial platelet disorder with associated myeloid malignancy (FPD-MM, OMIM: 601399) 1,
2 is a rare cancer predisposition syndrome caused by pathogenic germline variants in …

Protocadherin 19 (Pcdh19) is an X-linked gene belonging to the protocadherin superfamily,
whose members are predominantly expressed in the central nervous system and have been …

GATA2 deficiency syndrome (G2DS) is a rare autosomal dominant genetic disease predisposing
to a range of symptoms, of which myeloid malignancy and immunodeficiency including …

Our previous studies have shown that nutritional zinc restriction exacerbates airway inflammation
accompanied by an increase in caspase-3 activation and an accumulation of apoptotic …