Maria Piccione

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Michael A. Levy, Haley McConkey, Jennifer Kerkhof et al. · Human Genetics and Genomics Advances · 2021 · 149 citations · Full text

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

Daniela Rusconi, Gloria Negri, Patrizia Colapietro et al. · Human Genetics · 2015 · 86 citations

Molecular Neuroscience, Rubinstein–taybi Syndrome, Disease Mechanism +9

Bipolar disorders and affective temperaments: A national family study testing the “endophenotype” and “subaffective” theses using the TEMPS-A Buenos Aires

Gustavo Vázquez, Clara Kahn, Claudia E. Schiavo et al. · Journal of Affective Disorders · 2007 · 83 citations

Psychiatry, Mood Symptom, Depression +14

Intragenic <i>KANSL1</i> mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients

Marcella Zollino, Giuseppe Marangi, Emanuela Ponzi et al. · Journal of Medical Genetics · 2015 · 80 citations

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Michael A. Levy, Raissa Relator, Haley McConkey et al. · Human Mutation · 2022 · 76 citations · Full text

Epigenetic Change, Genetics, Dna Methylation +17