Filomena Tiziana Papa

Private inherited microdeletion/microduplications: Implications in clinical practice

Maria Antonietta Mencarelli, Eleni Katzaki, Filomena Tiziana Papa et al. · European Journal of Medical Genetics · 2008 · 106 citations

Genetic Testing, Genetic Disorder, Genetics +3

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett‐like features

Filomena Tiziana Papa, Maria Antonietta Mencarelli, Rossella Caselli et al. · American Journal of Medical Genetics Part A · 2008 · 65 citations

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

Emilia K. Bijlsma, Andrew Collins, Filomena Tiziana Papa et al. · European Journal of Medical Genetics · 2012 · 54 citations

Mendelian Disorder, Psychiatry, Genetic Disorder +11

MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype

Annarita Giliberti, Aurora Currò, Filomena Tiziana Papa et al. · European Journal of Medical Genetics · 2019 · 50 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +11

Analysis of the Phenotypes in the Rett Networked Database

Elisa Frullanti, Filomena Tiziana Papa, Elisa Grillo et al. · International Journal of Genomics · 2019 · 47 citations · Full text