R. Dufourcq-Lagelouse

Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

A. Fischer, L. Notarangelo, A. Plebani, 2000, Cell.

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene

A. Fischer, C. Griscelli, O. Sanal, 1997, Nature Genetics.

Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.

S. Kingsmore, A. Fischer, R. Holcombe, 1997, Human molecular genetics.

Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity.

A. Fischer, R. Dufourcq-Lagelouse, N. Jabado, 1999, American journal of human genetics.

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

A. Fischer, F. Deist, R. Dufourcq-Lagelouse, 1999, Science.

Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1

A. Fischer, R. Dufourcq-Lagelouse, M. Prieur, 1999, European Journal of Human Genetics.

Pillars article: Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999. 286: 1957-1959.

R. Dufourcq-Lagelouse, S. Stepp, V. Kumar, 2015, Journal of Immunology.

Genetic basis of hemophagocytic lymphohistiocytosis syndrome (Review).

R. Dufourcq-Lagelouse, G. de Saint Basile, F. Barrat, 1999, International journal of molecular medicine.

Lysosomal Vesicles, Giant Granules, and Erythrophagocytosis in Chédiak-Higashi Syndrome Chediak-Higashi Sendromunda Lizozomal Veziküller, Dev Granüller ve Eritrofagositoz

R. Dufourcq-Lagelouse, W. Westbroek, P. Ra, 2014 .