Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.
Guggenheim JA et al.
Human Molecular Genetics, 2022
Association analyses of rare variants identify two genes associated with refractive error.
Patasova K et al.
Plos One, 2022
Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.
Zwaveling-Soonawala N et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.
Broutier L et al.
Nature Medicine, 2017
29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S11_CC-2_coding_SNVs
Co-accumulation of cis-regulatory and coding mutations during the pseudogenization of the Xenopus laevis homoeologs six6.L and six6.S.
Ochi H et al.
Developmental Biology, 2017
Major review: Molecular genetics of primary open-angle glaucoma.
Liu Y et al.
Experimental Eye Research, 2017
Identification and characterization of variants and a novel 4 bp deletion in the regulatory region of SIX6, a risk factor for primary open-angle glaucoma.
Shah MH et al.
Molecular Genetics & Genomic Medicine, 2017
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S16
Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age.
Iglesias AI et al.
Human Molecular Genetics, 2014
Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma.
Carnes MU et al.
Plos Genetics, 2014
Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.
Chang H et al.
Plos One, 2011
21701589 (PubMed )
Supplement: pone.0021097.s002.xls › colo205_f40r3
Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.
Aijaz S et al.
Investigative Ophthalmology & Visual Science, 2004
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