Flavio Faletra

Type I interferon-mediated autoinflammation due to DNase II deficiency

Mathieu P. Rodero, Alessandra Tesser, Eva Bartok et al. · Nature Communications · 2017 · 217 citations · Full text

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi et al. · The American Journal of Human Genetics · 2021 · 80 citations · Full text

Down Syndrome, Deletion Syndrome, Developmental Biology +11

Autosomal recessive stickler syndrome due to a loss of function mutation in the <i>COL</i><i>9</i><i>A</i><i>3</i> gene

Flavio Faletra, Pio D’Adamo, Irene Bruno et al. · American Journal of Medical Genetics Part A · 2013 · 79 citations

Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection

Emmanouil Athanasakis, Danilo Licastro, Flavio Faletra et al. · American Journal of Medical Genetics Part A · 2013 · 46 citations

Genetics, Genetic Epidemiology, Whole Exome +20

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta

Elisa Rubinato, Anna Morgan, Angela D’Eustacchio et al. · Gene · 2014 · 46 citations

Bone Disease, Sclerostin, Developmental Biology +8