Associated Papers
Functional and Molecular Heterogeneity in Glioma Stem Cells Derived from Multiregional Sampling.
Brynjulvsen M et al.
Cancers, 2023
38136371 (PubMed )
Supplement: cancers-15-05826-s001.zip › cancers-2734281-supplementary › Supplementary_Table_S3_-_Mutations.xlsx › Mutations
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Álvarez-Prado ÁF et al.
Cell Reports. Medicine, 2023
36652909 (PubMed )
Supplement: mmc4.xlsx › BrM_Val5
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism
Extended mutation spectrum of Usher syndrome in Finland.
Västinsalo H et al.
Acta Ophthalmologica, 2013
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.
Vaché C et al.
Human Mutation, 2012
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
Garcia-Garcia G et al.
Orphanet Journal of Rare Diseases, 2011
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Bonnet C et al.
Orphanet Journal of Rare Diseases, 2011
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
McGee TL et al.
Journal of Medical Genetics, 2010
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
Yan D et al.
Journal of Human Genetics, 2009
Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.
Nakanishi H et al.
Clinical Genetics, 2009
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
Dreyer B et al.
Human Mutation, 2008
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
Aller E et al.
Journal of Medical Genetics, 2006
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