An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader–Willi Syndrome
Article in Case Reports in Genetics (September 2023)
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The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature
Article in Genes (June 2021)
Generation of hypothalamic arcuate organoids from human induced pluripotent stem cells
Article in Cell Stem Cell (May 2021)