Orsetta Zuffardi

Orsetta Zuffardi 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 Orsetta Zuffardi sits on this spectrum.

Orsetta Zuffardi 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 Orsetta Zuffardi sits on this spectrum.

Overview

Best Publications

• Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm.

  L. Tiepolo;L. Tiepolo;Orsetta Zuffardi

  1563
  Citations

• Human bone marrow derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms.

  Maria Ester Bernardo;Nadia Zaffaroni;Francesca Novara;Angela Maria Cometa

  947
  Citations

• Formation of new chromatin domains determines pathogenicity of genomic duplications

  Martin Franke;Martin Franke;Daniel M. Ibrahim;Guillaume Andrey;Wibke Schwarzer

  665
  Citations

• A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

  Andrew J Sharp;Heather C Mefford;Kelly Li;Carl Baker

  651
  Citations

• Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?

  M. Gautel;O. Zuffardi;A. Freiburg;S. Labeit

  476
  Citations

• Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome

  Felix Beuschlein;Martin Fassnacht;Guillaume Assié;Davide Calebiro

  418
  Citations

• Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements

  Sabrina Giglio;Karl W. Broman;Naomichi Matsumoto;Vladimiro Calvari

  414
  Citations

• Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome

  Maria Clara Bonaglia;Roberto Giorda;Renato Borgatti;Giorgio Felisari

  403
  Citations

• Optimization of in vitro expansion of human multipotent mesenchymal stromal cells for cell‐therapy approaches: Further insights in the search for a fetal calf serum substitute

  Me Bernardo;Ma Avanzini;C Perotti;Am Cometa

  355
  Citations

• A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function in Oogenesis and Implications for Human Sterility

  Silvia Bione;Cinzia Sala;Chiara Manzini;Giulia Arrigo

  350
  Citations

• Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

  M De Gregori;R Ciccone;P Magini;T Pramparo

  337
  Citations

• Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

  Immacolata Andolfo;Seth L. Alper;Lucia De Franceschi;Carla Auriemma

  330
  Citations

• The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

  A. Schinzel;W. Schmid;M. Fraccaro;L. Tiepolo

  275
  Citations

• Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

  Jeroen K.J. Van Houdt;Beata Anna Nowakowska;Sérgio B. Sousa;Sérgio B. Sousa;Barbera D.C. Van Schaik

  255
  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 SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.

  C Kwok;P A Weller;S Guioli;J W Foster

  245
  Citations

• Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

  Maria Clara Bonaglia;Roberto Giorda;Elisa Mani;Giuseppe Aceti

  240
  Citations

• The 11q;22q translocation: A European collaborative analysis of 43 cases

  M. Fraccaro;J. Lindsten;C. E. Ford;L. Iselius

  238
  Citations

• Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.

  Daniele Ghezzi;Irina Sevrioukova;Federica Invernizzi;Costanza Lamperti

  234
  Citations

• A dosage sensitive locus at chromosome XP21 is involved in male to female sex reversal

  B. Bardoni;E. Zanaria;S. Guioli;G. Floridia

  100
  Citations