Sofia Douzgou

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

David B. Beck, Ana Petracovici, Chongsheng He et al. · The American Journal of Human Genetics · 2020 · 108 citations · Full text

Chromatin, Mendelian Disorder, Genetic Disorder +12

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Lucia Micale, Bartolomeo Augello, Carmela Fusco et al. · Orphanet Journal of Rare Diseases · 2011 · 98 citations · Full text

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Heterozygous Variants +8

Pathogenicity and selective constraint on variation near splice sites

Jenny Lord, Giuseppe Gallone, Patrick Short et al. · Genome Research · 2018 · 94 citations · Full text

Healthy Subjects, Genetics, Rna Splicing +18

Epistasis between Dopamine Regulating Genes Identifies a Nonlinear Response of the Human Hippocampus During Memory Tasks

Alessandro Bertolino, Annabella Di Giorgio, Giuseppe Blasi et al. · Biological Psychiatry · 2008 · 88 citations

Nonlinear Response, Neuropsychology, Neurobiological Mechanism +14