N. Rosenfeld

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

T. Walsh, M. King, Ming K. Lee, 2016, Neurology.

Expanding the phenotype of CRB2 mutations – A new ciliopathy syndrome?

E. Picard, S. Carmi, L. Carmel, 2016, Clinical genetics.