Associated Papers
Progressive multifocal leukoencephalopathy genetic risk variants for pharmacovigilance of immunosuppressant therapies.
Hatchwell E et al.
Frontiers in Neurology, 2022
36588876 (PubMed )
Supplement: Data_Sheet_1.pdf
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A et al.
Genes, 2021
34573280 (PubMed )
Supplement: genes-12-01299-s001.zip › genes-1330791-suppl › Grossi_et_al_GENES_1330791_Supplemantary_Information_Table_S4_R1.xlsx › Foglio1
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › Oncogenes
Mouse models of neutropenia reveal progenitor-stage-specific defects.
Muench DE et al.
Nature, 2020
Germline Genetic Risk Variants for Progressive Multifocal Leukoencephalopathy.
Eis PS et al.
Frontiers in Neurology, 2020
32256442 (PubMed )
Supplement: Data_Sheet_2.pdf
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Feliubadaló L et al.
Scientific Reports, 2017
28050010 (PubMed )
Supplement: srep37984-s2.xls › Exome_geMODERATE_variants
From cytopenia to leukemia: the role of Gfi1 and Gfi1b in blood formation.
Möröy T et al.
Blood, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 893.339
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.
Xia J et al.
British Journal of Haematology, 2009
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