Mauro Lecca

Acute megakaryoblastic leukemia with a novel GATA1 mutation in a second trimester stillborn fetus with trisomy 21

A. Arossa, M. Paulli, E. Boveri, 2021, Leukemia & lymphoma.

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.

J. Lupski, A. Balduini, H. Lochmüller, 2023, American journal of human genetics.

Identification of bi‐allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3

S. Bione, C. Ghigna, E. Valente, 2023, Clinical genetics.

Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders

L. Pollegioni, N. Zanotta, M. Bonaglia, 2024, European journal of human genetics : EJHG.