Concepedia

Giuseppe Barrano

GB

Statistics

Publications

10

Citations

919

H-Index

10

Active since

2006

Affiliations

Sapienza University of Rome(Current)

Istituti di Ricovero e Cura a Carattere Scientifico

University of Chieti-Pescara

University of California San Diego

Bambino Gesù Children's Hospital

Giuseppe Barrano is an author at Sapienza University of Rome specializing in life sciences, genetics, and genetic disorders.

Publications per year

2006–2023

10

Publications

10

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Enza Maria Valente, Jennifer L. Silhavy, Francesco Brancati et al. · Nature Genetics · 2006 · 402 citations

, , +9

CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy et al. · The American Journal of Human Genetics · 2007 · 159 citations

, , +7

<i>AHI1</i> gene mutations cause specific forms of Joubert syndrome–related disorders

Enza Maria Valente, Francesco Brancati, Jennifer L. Silhavy et al. · Annals of Neurology · 2006 · 139 citations

, , +17

<i>RPGRIP1L</i> mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders

Francesco Brancati, Lorena Travaglini, Dominika Zablocka et al. · Clinical Genetics · 2008 · 78 citations · Full text

, , +9

Atypical phenotypes and clinical variability in a large Italian family with DYT1–primary torsion dystonia

Mattia Gambarin, Enza Maria Valente, Paolo Liberini et al. · Movement Disorders · 2006 · 43 citations

, , +10

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