Area of research
Hematology · Genetics
Research interest
Research interests include KRAS, Neuroblastoma RAS viral oncogene homolog, Juvenile myelomonocytic leukemia, Neurofibromin 1, PTPN11, and Genetics.
Biallelic inactivation of the <scp><i>NF1</i></scp> tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup
Evidence of neural crest cell origin of a DICER1 mutant CNS sarcoma in a child with DICER1 syndrome and NRAS‐mutant neurocutaneous melanosis
<i>NF1</i> Tumor Suppressor Gene Inactivation in Juvenile Myelomonocytic Leukemia: New Genetic Evidence and Consequences for Diagnostic Work-up
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
Specific mosaic <i><scp>KRAS</scp></i> mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis