Grazia M.S. Mancini

Overview

Best Publications

• 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

  780
  Citations

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

  Markus Wolff;Katrine M Johannesen;Ulrike B S Hedrich;Silvia Masnada

  570
  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

  456
  Citations

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

  Cristina Sobacchi;Annalisa Frattini;Matteo M Guerrini;Mario Abinun

  447
  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

  427
  Citations

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

  Anna Sarkozy;Claudio Carta;Sonia Moretti;Giuseppe Zampino

  350
  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

  324
  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

  304
  Citations

• Magnetic resonance imaging pattern recognition in hypomyelinating disorders

  Marjan E. Steenweg;Adeline Vanderver;Susan Blaser;Alberto Bizzi

  303
  Citations

• The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

  Marije E.C. Meuwissen;Dicky J.J. Halley;Liesbeth S. Smit;Maarten H. Lequin

  301
  Citations

• XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

  Nicolas C. Hoch;Hana Hanzlikova;Stuart L. Rulten;Martine Tétreault

  285
  Citations

• Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

  Marije E.C. Meuwissen;Rachel Schot;Sofija Buta;Grétel Oudesluijs

  273
  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

  250
  Citations

• Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.

  Sandra Hanks;Sarah Adams;Jenny Douglas;Laura Arbour

  249
  Citations

• Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.

  Tony Roscioli;Tony Roscioli;Erik-Jan Kamsteeg;Karen Buysse;Isabelle Maystadt

  227
  Citations

• Targeted Loss of Arx Results in a Developmental Epilepsy Mouse Model and Recapitulates the Human Phenotype in Heterozygous Females

  Eric Marsh;Carl Fulp;Ernest Gomez;Ilya Nasrallah

  223
  Citations

• COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke

  Marion Jeanne;Cassandre Labelle-Dumais;Jeff Jorgensen;W. Berkeley Kauffman

  212
  Citations

• Definitions and classification of malformations of cortical development: practical guidelines

  Mariasavina Severino;Ana Filipa Geraldo;Norbert Utz;Domenico Tortora

  211
  Citations

• Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

  Alice S. Brooks;Aida M. Bertoli-Avella;Grzegorz M. Burzynski;Guido J. Breedveld

  209
  Citations

• Mechanisms of copper incorporation into human ceruloplasmin

  Nathan E. Hellman;Satoshi Kono;Grazia M. Mancini;A.J. Hoogeboom

  208
  Citations