Eduardo de Paula Estephan

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

P. Missier, S. Beltran, Hanns Lochmüller, 2019, Human mutation.

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Jacqueline A Palace, S. Banka, E. Zanoteli, 2019, Brain : a journal of neurology.

Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series.

E. Zanoteli, A. Hentschel, Y. Azuma, 2023, Journal of neurology.