E. Stathaki

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

Marco Emilio Poleggi, S. Antonarakis, S. Gimelli, 2016, Human Genomics.

Immunodeficiency and lymphoma in Jacobsen syndrome.

H. Nigolian, P. Jandus, M. T. Carminho-Rodrigues, 2022, Journal of investigational allergology & clinical immunology.

Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis

R. Hà-Vinh Leuchter, M. Abramowicz, A. Vannier, 2021, Clinical genetics.

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease

S. Gimelli, I. Ceccherini, D. Coviello, 2019, Orphanet Journal of Rare Diseases.