Berardo Rinaldi

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

Francesca Novara, Berardo Rinaldi, Sanjay M. Sisodiya et al. · European Journal of Human Genetics · 2017 · 84 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>SMARCA4</i> inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type

Edoardo Errichiello, Noor Mustafa, Annalisa Vetro et al. · The Journal of Pathology · 2017 · 59 citations · Full text

Life Sciences, Genetics, Oncology +17

A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area.

Patrizia Malaspina, Maria Tsopanomichalou, Türker Duman et al. · PubMed · 2001 · 31 citations · Full text

Life Sciences, Evolutionary Biology, Genetics +15

A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area

Patrizia Malaspina, Maria Tsopanomichalou, Türker Duman et al. · Annals of Human Genetics · 2001 · 31 citations · Full text

Life Sciences, Evolutionary Biology, Genetics +14

Gain-of-function and loss-of-function variants in <i>GRIA3</i> lead to distinct neurodevelopmental phenotypes

Berardo Rinaldi, Allan Bayat, Linda G. Zachariassen et al. · Brain · 2023 · 27 citations · Full text

Life Sciences, Genetics, Neuroscience +17