Discovery will enable tens of thousands of families affected by this previously hidden genetic condition to receive closure through genetic diagnosis.

Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified and described a previously unknown ...

Three studies published in Nature Genetics look at the identification of a common recessive neurodevelopmental disorder (NDD).

Von Willebrand disease (VWD) is a bleeding disorder in which the blood does not clot as it should. Usually, people have VWD due to their genes, which may come from a male or female parent. Blood ...

Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified and described a previously unknown ...

In Mendelian inheritance patterns, you receive one version of a gene, called an allele, from each parent. These alleles can be dominant or recessive. Non-Mendelian genetics don’t completely follow ...