Brunella Franco

Brunella Franco publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Brunella Franco sits on this spectrum.

Brunella Franco D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Brunella Franco sits on this spectrum.

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