Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary
Clinical and genetic features of UNC13D deficiency with hypogammaglobulinemia.
Xiong L et al.
Frontiers in Immunology, 2025
Isolated Central Nervous System FHL3 in an Asian Pediatric Patient: A Case Report and Literature Review.
Zhang Z et al.
Journal of Inflammation Research, 2025
Did variants in inborn errors of immunity genes contribute to the extinction of Neanderthals?
Zhou Z et al.
Asian Pacific Journal of Allergy and Immunology, 2022
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
35330074 (PubMed )
Supplement: jcm-11-01749-s001.zip › Supl_Table_S1.pdf
The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.
Schwartz JR et al.
Nature Communications, 2021
33579957 (PubMed )
Supplement: 41467_2021_21255_MOESM15_ESM.xlsx › Sup._Data_12_All.Germ.Muts.
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque V et al.
Blood Advances, 2020
Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis.
Shibata H et al.
Blood, 2018
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.
Rohr J et al.
Haematologica, 2010
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