Asaf Ta‐Shma

Biallelic <scp> <i>TMEM260</i> </scp> variants cause truncus arteriosus, with or without renal defects

Loss of ADAMTS19 causes progressive non-syndromic heart valve disease

A human laterality disorder associated with a homozygous WDR16 deletion

Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation

Prevalence of Persistent Superior Vena Cava and Association With Congenital Heart Anomalies

Isolated truncus arteriosus associated with a mutation in the plexin‐D1 gene

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy

An <i>SNX10</i> mutation causes malignant osteopetrosis of infancy

Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2