Alice Spano

The <i>CHD8</i> overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

Philip J. Ostrowski, Anna Zachariou, Chey Loveday et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2019 · 53 citations

Medicine, Genetics, Molecular Genetics +17

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders

Simona Mellone, Chiara Puricelli, Denise Vurchio et al. · Frontiers in Genetics · 2022 · 23 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

M. Crippa, Ilaria Bestetti, Silvia Maitz et al. · Frontiers in Neurology · 2020 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase

A. Jones, Matilde Aquilino, Rory J. Tinker et al. · The American Journal of Human Genetics · 2024 · 18 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Children and Adults Affected by Cri Du Chat Syndrome: Care's Recommendations

Maria Elena Liverani, Alice Spano, Cesare Danesino et al. · Pediatric Reports · 2019 · 12 citations · Full text

Medicine, Pediatrics, Rehabilitation Medicine +7