Associated Papers
In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.
Kasai S et al.
Pediatric Blood & Cancer, 2024
38217079 (PubMed )
Supplement: supplement_1.xlsx › SNVs
Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development.
Jin HJ et al.
Elife, 2023
38126872 (PubMed )
Supplement: elife-92769-fig2-data1.zip › Figure_2-source_data_1 › Figure_2-source_data_1 › Figure_2-source_data_1.xlsx › Table
Case report: Insulinomatosis: description of four sporadic cases and review of the literature.
Lourenço DM et al.
Frontiers in Endocrinology, 2023
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL1
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.
Su D et al.
Nature Communications, 2019
31700061 (PubMed )
Supplement: 41467_2019_12846_MOESM18_ESM.xlsx › Mutation
Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy.
Wieben ED et al.
Investigative Ophthalmology & Visual Science, 2019
31469403 (PubMed )
Supplement: iovs-60-10-11_s03.pdf
Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis.
Fan C et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2018
Capturing the biology of disease severity in a PSC-based model of familial dysautonomia.
Zeltner N et al.
Nature Medicine, 2016
27841875 (PubMed )
Supplement: 41591_2016_BFnm4220_MOESM18_ESM.xlsx › homozygous_variants
Somatically mutated ABL1 is an actionable and essential NSCLC survival gene.
Testoni E et al.
Embo Molecular Medicine, 2016
26758680 (PubMed )
Supplement: EMMM-8-105-s006.xlsx › A549_mutations_cBio
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