Associated Papers
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.
Park H et al.
Acta Neuropathologica Communications, 2022
35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary
Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing.
Nanki Y et al.
Scientific Reports, 2020
32724113 (PubMed )
Supplement: 41598_2020_69488_MOESM2_ESM.xlsx › Sheet1
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 › HL3
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series.
Ruark E et al.
Wellcome Open Research, 2018
30483600 (PubMed )
Supplement: wellcomeopenres-3-16253-s0002.tgz › 5002db8e-a68e-4824-8ca9-65a082914a99_Supp_file_3.xlsx › ChangeInPerformance
Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy.
Bainbridge MN et al.
Bmc Medical Genetics, 2017
28253841 (PubMed )
Supplement: 12881_2017_385_MOESM1_ESM.pdf
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