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1. NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

3. The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

4. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

5. Breast tumours maintain a reservoir of subclonal diversity during expansion

6. De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

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