Jean-Pierre de Villartay

Overview

Best Publications

• Sustained Correction of X-Linked Severe Combined Immunodeficiency by ex Vivo Gene Therapy

  Salima Hacein-Bey-Abina;Françoise Le Deist;Frédérique Carlier;Cécile Bouneaud

  1462
  Citations

• Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency

  Despina Moshous;Isabelle Callebaut;Régina de Chasseval;Barbara Corneo

  1093
  Citations

• Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.

  Dietke Buck;Laurent Malivert;Régina de Chasseval;Anne Barraud

  828
  Citations

• Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

  Satoshi Okada;Satoshi Okada;Janet G Markle;Elissa K Deenick;Elissa K Deenick;Federico Mele

  427
  Citations

• Metallo-β-lactamase fold within nucleic acids processing enzymes: the β-CASP family

  Isabelle Callebaut;Despina Moshous;Jean‐Paul Mornon;Jean‐Pierre de Villartay

  372
  Citations

• Severe combined immunodeficiency. A model disease for molecular immunology and therapy.

  Alain Fischer;Françoise Le Deist;Salima Hacein-Bey-Abina;Isabelle André-Schmutz

  321
  Citations

• Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis

  Despina Moshous;Christophe Pannetier;Régina de Chasseval;Françoise le Deist

  307
  Citations

• Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.

  Barbara Corneo;Despina Moshous;Tayfun Güngör;Nicolas Wulffraat

  297
  Citations

• Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.

  Dietke Buck;Despina Moshous;Régina de Chasseval;Yunmei Ma

  267
  Citations

• Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency

  Bénédicte Neven;Bénédicte Neven;Sandrine Leroy;Sandrine Leroy;Hélène Decaluwe;Francoise Le Deist

  256
  Citations

• Defect in Rearrangement of the Most 5′ TCR–Jα Following Targeted Deletion of T Early α (TEA): Implications for TCR α Locus Accessibility

  Isabelle Villey;Danielle Caillol;Françoise Selz;Pierre Ferrier

  222
  Citations

• Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common γc cytokine receptor subunit or JAK-3 deficiency

  Caroline Laffort;Françoise Le Deist;Françoise Le Deist;Michel Favre;Sophie Caillat-Zucman

  215
  Citations

• A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency.

  Nathalie Nicolas;Despina Moshous;Marina Cavazzana-Calvo;Dora Papadopoulo

  212
  Citations

• Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability

  Tangui Le Guen;Tangui Le Guen;Laurent Jullien;Laurent Jullien;Fabien Touzot;Fabien Touzot;Michael Schertzer

  210
  Citations

• A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.

  Jean-Pierre de Villartay;Annick Lim;Hamoud Al-Mousa;Sophie Dupont

  207
  Citations

• JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders.

  Isabelle Plo;Isabelle Plo;Mayuka Nakatake;Mayuka Nakatake;Laurent Malivert;Jean-Pierre de Villartay

  203
  Citations

• A Founder Mutation in Artemis, an SNM1-Like Protein, Causes SCID in Athabascan-Speaking Native Americans

  Lanying Li;Despina Moshous;Yungui Zhou;Junhua Wang

  201
  Citations

• Role for DNA repair factor XRCC4 in immunoglobulin class switch recombination.

  Pauline Soulas-Sprauel;Pauline Soulas-Sprauel;Gwenaël Le Guyader;Gwenaël Le Guyader;Paola Rivera-Munoz;Paola Rivera-Munoz;Vincent Abramowski;Vincent Abramowski

  199
  Citations

• SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.

  Catharina Schuetz;Benedicte Neven;Benedicte Neven;Christopher C. Dvorak;Sandrine Leroy

  179
  Citations

• Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

  Despina Moshous;Despina Moshous;Despina Moshous;Emmanuel Martin;Emmanuel Martin;Wassila Carpentier;Annick Lim

  174
  Citations