Associated Papers
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1
A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.
Zhu Y et al.
European Journal of Human Genetics : Ejhg, 2024
38627542 (PubMed )
Supplement: 41431_2024_1573_MOESM3_ESM.xlsx › Sheet1
A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene.
Cavarzere P et al.
Orphanet Journal of Rare Diseases, 2022
Identification and functional study of genetic polymorphisms in cyclic nucleotide phosphodiesterase 3A (PDE3A).
Kim YR et al.
Annals of Human Genetics, 2021
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Toulmonde M et al.
Ebiomedicine, 2020
33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered
Integrated Somatic and Germline Whole-Exome Sequencing Analysis in Women with Lung Cancer after a Previous Breast Cancer.
Coco S et al.
Cancers, 2019
30925779 (PubMed )
Supplement: cancers-11-00441-s001.zip › cancers-452240-Supplementary › Table_S3.xlsx › Table_S3
Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.
Witkiewicz AK et al.
Nature Communications, 2015
25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES
Complex patterns of genomic admixture within southern Africa.
Petersen DC et al.
Plos Genetics, 2013
23516368 (PubMed )
Supplement: pgen.1003309.s016.pdf
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