M. Tartaglia

Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder

S. Drunat, E. Flex, Y. Capri, 2023, Haematologica.

Rare and de novo coding variants in chromodomain genes in Chiari I malformation.

D. Conrad, A. Reymond, A. Hale, 2020, American journal of human genetics.

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

S. Lalani, R. Louie, G. Chillemi, 2024, Nature communications.

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

E. Bertini, R. Carrozzo, M. Tartaglia, 2017, Clinical genetics.

Clinical, biochemical and molecular characterization of prosaposin deficiency

M. Tartaglia, M. Motta, V. Nigro, 2016, Clinical genetics.

Natural history in Malan syndrome: survey of 28 adults and literature review

A. Panfili, M. Tartaglia, T. N. Huynh, 2024, Orphanet journal of rare diseases.

Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio–facio–cutaneous and Costello syndromes

M. Tartaglia, G. Zampino, K. Rauen, 2003, Clinical genetics.