Brunella Franco

Overview

Best Publications

• Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

  Daniel J. Klionsky;Amal Kamal Abdel-Aziz;Sara Abdelfatah;Mahmoud Abdellatif

  10661
  Citations

• A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.

  Brunella Franco;Silvana Guioli;Antonella Pragliola;Antonella Pragliola;Barbara Incerti

  965
  Citations

• Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

  Alison J. Coffey;Robert A. Brooksbank;Oliver Brandau;Toshitaka Oohashi

  879
  Citations

• Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency

  Valeria Tiranti;Konstanze Hoertnagel;Rosalba Carrozzo;Claudia Galimberti

  632
  Citations

• Mutation analysis of the HLA-H gene in Italian hemochromatosis patients

  M Carella;L D'Ambrosio;A Totaro;A Grifa

  435
  Citations

• Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

  Nandita A. Quaderi;Susann Schweiger;Karin Gaudenz;Brunella Franco

  409
  Citations

• Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites

  Zaiming Tang;Mary Grace Lin;Timothy Richard Stowe;She Chen

  392
  Citations

• Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.

  Maria Immacolata Ferrante;Alessandro Zullo;Adriano Barra;Sabrina Bimonte

  390
  Citations

• Identification of the gene for oral-facial-digital type I syndrome.

  Maria I. Ferrante;Sally A. Feather;Alessandro Bulfone;Victoria Wright

  388
  Citations

• A CLUSTER OF SULFATASE GENES ON XP22.3 : MUTATIONS IN CHONDRODYSPLASIA PUNCTATA (CDPX) AND IMPLICATIONS FOR WARFARIN EMBRYOPATHY

  Brunella Franco;Germana Meroni;Giancarlo Parenti;Jacqueline Levilliers

  330
  Citations

• Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

  J.T. Dendunnen;T. Kraayenbrink;T. Kraayenbrink;M. van Schooneveld;M. van Schooneveld;E. van de Vosse

  283
  Citations

• Intragenic deletion of the KALIG-1 gene in Kallmann's syndrome.

  David Bick;Brunella Franco;Richard J. Sherins;Babette Heye

  233
  Citations

• An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

  Boldt K;van Reeuwijk J;Lu Q;Koutroumpas K

  231
  Citations

• Activation of Autophagy, Observed in Liver Tissues From Patients With Wilson Disease and From ATP7B-Deficient Animals, Protects Hepatocytes From Copper-Induced Apoptosis

  Elena V. Polishchuk;Assunta Merolla;Josef Lichtmannegger;Alessia Romano

  227
  Citations

• Oral-facial-digital syndromes: review and diagnostic guidelines.

  Fiorella Gurrieri;Brunella Franco;Helga Toriello;Giovanni Neri

  178
  Citations

• Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region.

  Eugenio Montini;Grazia Andolfi;Antonio Caruso;Georg Buchner

  168
  Citations

• The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

  Christel Thauvin-Robinet;Jaclyn S Lee;Estelle Lopez;Vicente Herranz-Pérez

  152
  Citations

• Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.

  Alessia Indrieri;Vanessa Alexandra van Rahden;Valeria Tiranti;Manuela Morleo

  143
  Citations

• CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders

  Clark Lin;Brunella Franco;Marsha Rich Rosner

  143
  Citations

• Identification and characterization of AFG3L2, a novel paraplegin-related gene.

  Sandro Banfi;Maria Teresa Bassi;Grazia Andolfi;Anna Marchitiello

  140
  Citations