Verdiana Pullano

IDH2 inhibition enhances proteasome inhibitor responsiveness in hematological malignancies

Elisa Bergaggio, Chiara Riganti, Giulia Garaffo et al. · Blood · 2018 · 61 citations · Full text

Medicine, Hematology, Oncology +13

Successful treatment with <scp>MEK</scp>‐inhibitor in a patient with <scp><i>NRAS</i></scp>‐related cutaneous skeletal hypophosphatemia syndrome

Diana Carli, Simona Cardaropoli, Daniele Tessaris et al. · Genes Chromosomes and Cancer · 2022 · 26 citations · Full text

Medicine, Dermatology, Molecular Medicine +17

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes

Chiara Giovenino, Slavica Trajkova, Lisa Pavinato et al. · European Journal of Human Genetics · 2023 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano et al. · The American Journal of Human Genetics · 2022 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus

Marcello Scala, Clarrisa A. Bradley, Jennifer Howe et al. · The American Journal of Human Genetics · 2024 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11