L. Dosa

Most-cited papers

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

   C. Fallerini, L. Dosa, R. Tita, D. Del Prete +22 more

   2014Clinical Genetics137 citations Open access

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2. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

   Magdalena Koczkowska, T. Callens, Yun-Jia Chen, A. Gomes +104 more

   2019Human Mutation118 citations Open access

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3. Advances in Alport syndrome diagnosis using next-generation sequencing

   R. Artuso, C. Fallerini, L. Dosa, F. Scionti +10 more

   2011European Journal of Human Genetics87 citations Open access

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4. 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, T. Callens, A. Gomes, A. Sharp +66 more

   2018Genetics in Medicine82 citations Open access

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

   E. Bijlsma, A. Collins, F. T. Papa, M. Tejada +26 more

   2012European Journal of Medical Genetics50 citations Open access

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6. Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.

   F. Mari, A. Marozza, M. Mencarelli, Caterina Lo Rizzo +22 more

   2015Brain & development (Tokyo. 1979)42 citations Open access

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7. Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

   S. Amitrano, A. Marozza, Serena Somma, Valentina Imperatore +15 more

   2015European Journal of Human Genetics42 citations Open access

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8. Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome

   S. Stagi, M. Di Tommaso, Cristina Manoni, Perla Scalini +6 more

   2016International Journal of Endocrinology39 citations Open access

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9. Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation.

   C. Di Marco, A. L. Bulotta, C. Varetti, L. Dosa +11 more

   2013Gene25 citations

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10. Triple X syndrome and puberty: focus on the hypothalamus-hypophysis-gonad axis.

    S. Stagi, M. Di Tommaso, Perla Scalini, E. Lapi +6 more

    2016Fertility and Sterility16 citations Open access

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11. Pregnancy in Alport syndrome: A report of two differently-evolving cases

    Marianna Alessi, A. Fabris, A. Zambon, D. Cremasco +4 more

    2014Journal of Obstetrics and Gynaecology Research12 citations Open access

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12. Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family

    L. Fontana, M. Santoro, M. D'Apice, Francesca Peluso +5 more

    2020Acta myologica5 citations

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13. 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

    Alicia Gomes, MMedSc Angela Sharp, Yun-Jia Chen, Alesha D. Hicks +61 more

    20192 citations

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14. Correction: 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, T. Callens, A. Gomes, A. Sharp +66 more

    2018Genetics in Medicine2 citations Open access

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15. Huntington's disease gene expansion associates with early onset nonprogressive chorea

    L. Dosa, A. Malandrini, I. Donato, U. Hladnik +3 more

    2013Movement Disorders0 citations Open access

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