The delineation of disease entities is complex, yet recent advances in the molecular
characterization of diseases provide opportunities to designate diseases in a biologically valid …

Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous
candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have …

The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains
771 entries associated with 552 genes reflecting advances in molecular delineation of …

Importance Focal cortical dysplasia (FCD), hemimegalencephaly, and megalencephaly
constitute a spectrum of malformations of cortical development with shared neuropathologic …

Background Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive
facial appearance, intellectual disability and growth failure as prominent features. Most …

Mosaicism is increasingly recognized as a cause of developmental disorders with the advent
of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been associated …

The four R-spondin secreted ligands (RSPO1–RSPO4) act via their cognate LGR4, LGR5
and LGR6 receptors to amplify WNT signalling 1 , 2 – 3 . Here we report an allelic series of …

The field of clinical genetics and genomics continues to evolve. In the past few decades,
milestones like the initial sequencing of the human genome, dramatic changes in sequencing …

BACKGROUND: Our objective was to study demographic features, clinical features, and
karyotype analyses of patients with Down syndrome (DS). Our study design was a retrospective …

The more than 1.5 billion people who live in South Asia are correctly viewed not as a single
large population but as many small endogamous groups. We assembled genome-wide data …