Aida M Bertoli-Avella

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Carel Meijers, Dick Tibboel, Jan Osinga, 2005, American journal of human genetics.

Systematic review of frequent users of emergency departments in non-US hospitals: state of the art

Peter Patka, Juanita Haagsma, Suzanne Polinder, 2015, European journal of emergency medicine : official journal of the European Society for Emergency Medicine.

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

Rolf Schröder, Ahmed Al-Rumayyan, Omid Paknia, 2016, European Journal of Human Genetics.