Anna Villa

Overview

Best Publications

• Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome

  Alessandro Aiuti;Luca Biasco;Samantha Scaramuzza;Francesca Ferrua

  1231
  Citations

• Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID).

  P Macchi;A Villa;S Giliani;M G Sacco

  1041
  Citations

• Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.

  Annalisa Frattini;Paul J. Orchard;Cristina Sobacchi;Silvia Giliani

  827
  Citations

• Osteopetrosis: genetics, treatment and new insights into osteoclast function

  Cristina Sobacchi;Ansgar Schulz;Fraser P. Coxon;Anna Villa

  623
  Citations

• The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

  Markus G. Seidel;Gerhard Kindle;Benjamin Gathmann;Isabella Quinti

  588
  Citations

• Partial V(D)J Recombination Activity Leads to Omenn Syndrome

  Anna Villa;Sandro Santagata;Fabio Bozzi;Silvia Giliani

  503
  Citations

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

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

  447
  Citations

• V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

  Anna Villa;Cristina Sobacchi;Luigi D. Notarangelo;Fabio Bozzi

  406
  Citations

• Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

  Matteo M. Guerrini;Cristina Sobacchi;Barbara Cassani;Mario Abinun

  335
  Citations

• X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.

  Villa A;Notarangelo L;Macchi P;Mantuano E

  321
  Citations

• Omenn syndrome: inflammation in leaky severe combined immunodeficiency.

  Anna Villa;Luigi D. Notarangelo;Chaim M. Roifman

  318
  Citations

• Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human

  Nader Chalhoub;Nadia Benachenhou;Venkatesh Rajapurohitam;Monica Pata

  303
  Citations

• Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis

  Annalisa Frattini;Alessandra Pangrazio;Lucia Susani;Cristina Sobacchi

  275
  Citations

• Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome.

  Marita Bosticardo;Francesco Marangoni;Alessandro Aiuti;Alessandro Aiuti;Anna Villa

  274
  Citations

• The mutational spectrum of human malignant autosomal recessive osteopetrosis

  Cristina Sobacchi;Annalisa Frattini;Paul J Orchard;Oscar Porras

  254
  Citations

• Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans

  Liesbeth Van Wesenbeeck;Paul R. Odgren;Fraser Coxon;Annalisa Frattini

  232
  Citations

• WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells.

  Francesco Marangoni;Sara Trifari;Samantha Scaramuzza;Cristina Panaroni

  220
  Citations

• Impaired gastric acidification negatively affects calcium homeostasis and bone mass

  Thorsten Schinke;Arndt F. Schilling;Anke Baranowsky;Sebastian Seitz

  217
  Citations

• Structural and functional basis for JAK3-deficient severe combined immunodeficiency.

  Fabio Candotti;Scott A. Oakes;James A. Johnston;Silvia Giliani

  216
  Citations

• Preclinical modeling highlights the therapeutic potential of hematopoietic stem cell gene editing for correction of SCID-X1

  Giulia Schiroli;Samuele Ferrari;Anthony Conway;Aurelien Jacob

  215
  Citations