Mariella D’Alessandro

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faùndes, William G. Newman, Laura Bernardini et al. · The American Journal of Human Genetics · 2017 · 278 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Mutations in the Iodotyrosine Deiodinase Gene and Hypothyroidism

J.C. Moreno, Hans van Toor, Graziella Pinto et al. · New England Journal of Medicine · 2008 · 196 citations · Full text

Medicine, Endocrinology, Genetics +11

Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

David Goudie, Mariella D’Alessandro, Barry Merriman et al. · Nature Genetics · 2011 · 156 citations

Medicine, Molecular Genetics, Oncology +10

Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome

Lynette G. Sadleir, Emily Mountier, Deepak Gill et al. · Neurology · 2017 · 127 citations · Full text

Medicine, Neurology, Pediatrics +17

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 121 citations · Full text

Medicine, Genetics, Molecular Genetics +17