Systematic assessment of de novo variants in patients with sporadic inborn errors of immunity led to the identification of promising candidate variants in known and novel immune genes, supporting its implementation in the routine diagnostic evaluation of these patients.

DNAH3 is a novel pathogenic gene of male infertility and plays essential role in flagellar IDA assembly in humans and mice.

Epistatic interactions of rare loss of function mutations in SMAD6 and a common variant modifier near BMP2 are the most common cause of midline craniosynostosis in humans.

A mouse with a defined mutation in an extracellular matrix protein that is expressed in selected neurons sheds light on circuit abnormalities producing transient hyperkinetic movements.

Skin cells from a patient with retinitis pigmentosa have been used to generate induced pluripotent stem cells, which could potentially form the basis of new treatments for this disease.

A novel Mendelian disease featuring early-onset hypertension is caused by a recurrent gain of function mutation in CACNA1H, which encodes the voltage-gated calcium channel Cav3.2.

A distinct class of kidney tumors is characterized not by patterns of somatic mutations, but by a distinct metabolism.

EncoreDNM identifies abundant enrichment correlations across disorders for de novo mutations.

Bilallelic mutations of FANCM, a DNA-damage response gene whose heterozygous mutations predispose to breast cancer, are involved in a familial case of Primary Ovarian Insufficiency establishing a link between infertility and cancer.

Human red blood cells from healthy donors display marked biophysical and genetic variation that impacts the growth of Plasmodium falciparum malaria parasites, outside of known disease alleles.