Safina,"
Joshua Erin Petrikin," Kevin Peter Hall,' Stephen Francis Kingsmore'•2,3,4,st
Monogenic diseases are frequent causes of neonatal morbidity and mortality, and disease presentations are often
undifferentiated ... birth. More than 3500 monogenic diseases have been characterized, but clinical testing is avail-
able for only some of them and many feature clinical and genetic heterogeneity. Hence, an immense ... neonates with genetic diseases are often dis- E
comprehensive, differential diagnostic testing of likely monogenic ill- charged or deceased before a diagnosis is made. As a result, NICU
E
nesses