Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6
Diffusely metastatic glioblastoma with FGFR3::TACC3 fusion: cell-free DNA fragmentation analyses and molecular characterization of matched primary and metastatic tumor sites.
Hernandez-Rovira MA et al.
Acta Neuropathologica Communications, 2025
Congenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue Disorders.
Di Pede A et al.
Genes, 2025
Patient-derived rhabdomyosarcoma cells recapitulate the genetic and transcriptomic landscapes of primary tumors.
Hu Y et al.
Iscience, 2024
39319271 (PubMed )
Supplement: mmc5.xlsx › Table_S4
TP53 and KMT2D mutations associated with worse prognosis in peripheral T-cell lymphomas.
Wang L et al.
Cancer Medicine, 2024
Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.
Pu X et al.
Cell & Bioscience, 2023
37964396 (PubMed )
Supplement: 13578_2023_1156_MOESM13_ESM.xls › Sheet1
Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients.
Al Saati A et al.
International Journal of Molecular Sciences, 2023
37762649 (PubMed )
Supplement: ijms-24-14348-s001.zip › Supplemental_table_S1_VUS_-_ALL_VUS.xlsx › MATADOR_compare_byvariant_p0.05
Oral cancer prediction by noninvasive genetic screening.
Poell JB et al.
International Journal of Cancer, 2023
36069231 (PubMed )
Supplement: IJC-152-227-s003.pdf
JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.
Bodaar K et al.
Leukemia, 2022
35411095 (PubMed )
Supplement: NIHMS1792675-supplement-Supplementary_Table_2.xlsx › Sheet_1
Mutation of SPINOPHILIN (PPP1R9B) found in human tumors promotes the tumorigenic and stemness properties of cells.
Verdugo-Sivianes EM et al.
Theranostics, 2021
33537097 (PubMed )
Supplement: thnov11p3452s1.pdf
Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.
Burns MA et al.
Leukemia, 2018
29654263 (PubMed )
Supplement: NIHMS944706-supplement-Table_S2.xlsx › Table_S2
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_TSG
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.
Strom SP et al.
Plos One, 2016
26964041 (PubMed )
Supplement: pone.0150944.s002.xls › All_variants
Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis.
Beaudoin M et al.
Plos Genetics, 2013
24068945 (PubMed )
Supplement: pgen.1003723.s018.xlsx › Supporting_Table_4
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