Laura Dosa

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

Chiara Fallerini, Laura Dosa, Rossella Tita et al. · Clinical Genetics · 2013 · 140 citations

Relevant Fraction, Next Generation, Mendelian Disorder +14

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen et al. · Human Mutation · 2019 · 130 citations · Full text

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska, Tom Callens, Alicia Gomes et al. · Genetics in Medicine · 2018 · 93 citations · Full text

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

Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

Sara Amitrano, Annabella Marozza, Serena Somma et al. · European Journal of Human Genetics · 2015 · 46 citations · Full text

Next Generation, Somatic Variant, Tumor Heterogeneity +5