Kristen Lipscomb Sund

The paper develops a machine learning model to prioritize genes for newborn sequencing programs based on factors like evidence of disease natural history and treatment efficacy.

The paper discusses using human sequencing and CRISPR-Cas9 to study a novel craniofacial syndrome, finding that a variant in AMOTL1 causes lethality in mice but its pathogenicity in humans remains unclear.

The paper identifies COPB2 mutations as a cause of human microcephaly and shows that Copb2 is essential for embryogenesis and corticogenesis in mice.