Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial,
oral and digital abnormalities associated with a wide range of additional features (polycystic …

Loss-of-function mutations affecting one or both copies of the Ten-Eleven-translocation
(TET) 2 gene have been described in various human myeloid malignancies. We report that …

The current standard of care for diagnosis of severe intellectual disability (ID) and epileptic
encephalopathy (EE) results in a diagnostic yield of∼ 50%. Affected individuals nonetheless …

X‐linked intellectual disability (XLID) is a genetically heterogeneous condition involving
more than 100 genes. To date, 35 pathogenic variants have been reported in the lysine …

Patients with low-risk myelodysplastic syndromes (MDS) that rapidly progress to acute
myeloid leukemia (AML) remain a challenge in disease management. Using whole-exome …

Common birthmarks can be an indicator of underlying genetic disease but are often
overlooked. Mongolian blue spots (dermal melanocytosis) are usually localized and …

Genetic risk factors for autism spectrum disorder (ASD) have yet to be fully elucidated.
Postzygotic mosaic mutations (PMMs) have been implicated in several neurodevelopmental …

Purpose Congenital anomalies and intellectual disability (CA/ID) are a major diagnostic
challenge in medical genetics—50% of patients still have no molecular diagnosis after a …

Cilia use microtubule-based intraflagellar transport (IFT) to organize intercellular signaling.
Ciliopathies are a spectrum of human diseases resulting from defects in cilia structure or …

Recent advances in next‐generation sequencing (NGS) technologies have revolutionized
the field of human genetics. Alongside a broad panel of bioinformatics tools and databases …