Biblio
Reduced myeloid commitment and increased uptake by macrophages of stem cell-derived HPS2 neutrophils. Life Sci Alliance. 2024;7(4).
. Generation and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1. Stem Cell Res. 2021;54:102444.
Generation and characterization of a human iPSC line SANi006-A from a Gray Platelet Syndrome patient. Stem Cell Res. 2021;55:102443.
. Generation and characterization of a human iPSC line SANi007-A from a patient with a heterozygous dominant mutation in ELANE. Stem Cell Res. 2021;55:102440.
. Generation and characterization of a human iPSC line SANi008-A from a Chédiak-Higashi Syndrome patient. Stem Cell Res. 2021;55:102442.
. Hematopoietic stem cell transplantation in a patient with proteasome-associated auto-inflammatory syndrome (PRAAS). J Allergy Clin Immunol. 2021.
Allogeneic hematopoietic cell transplantation in the management of GATA2 deficiency and pulmonary alveolar proteinosis. Clin Immunol. 2020:108522.
. Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations. J Allergy Clin Immunol. 2020.
Defective neutrophil development and specific granule deficiency caused by a homozygous splice site mutation in SMARCD2. J Allergy Clin Immunol. 2020.
. Repercussion of Megakaryocyte-Specific Gata1 Loss on Megakaryopoiesis and the Hematopoietic Precursor Compartment. PLoS One. 2016;11(5):e0154342.
.