Grazia M.S. Mancini

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name Citations Publications World Ranking National Ranking

Biology and Biochemistry D-index 62 Citations 11,453 179 World Ranking 7142 National Ranking 176

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean Baptiste Rivière;Ghayda M. Mirzaa;Brian J. O'Roak;Margaret Beddaoui.
Nature Genetics (2012)

639 Citations

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL

Cristina Sobacchi;Annalisa Frattini;Matteo M Guerrini;Mario Abinun.
Nature Genetics (2007)

421 Citations

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Paul J Coucke;Andy Willaert;Marja W Wessels;Bert Callewaert.
Nature Genetics (2006)

377 Citations

Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder

Wilhelmina G. Leen;Joerg Klepper;Marcel M. Verbeek;Maike Leferink.
(2010)

371 Citations

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Markus Wolff;Katrine M Johannesen;Ulrike B S Hedrich;Silvia Masnada.
Brain (2017)

357 Citations

Germline BRAF mutations in noonan, LEOPARD, and cardiofaciocutaneous Syndromes: Molecular diversity and associated phenotypic spectrum

Anna Sarkozy;Claudio Carta;Sonia Moretti;Giuseppe Zampino.
Human Mutation (2009)

313 Citations

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

F. W. Verheijen;E. Verbeek;N. Aula;C. E. M. T. Beerens.
Nature Genetics (1999)

297 Citations

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Jean-Baptiste Rivière;Bregje W. M. van Bon;Alexander Hoischen;Stanislav S. Kholmanskikh.
Nature Genetics (2012)

252 Citations

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

Marjan E. Steenweg;Adeline Vanderver;Susan Blaser;Alberto Bizzi.
Brain (2010)

238 Citations

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

D. A. Koolen;A. J. Sharp;A. J. Sharp;J. A. Hurst;H. V. Firth.
Journal of Medical Genetics (2008)

234 Citations

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