Associated Papers
Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.
Werfel L et al.
Kidney International Reports, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.
Boyle L et al.
Hgg Advances, 2021
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
Rare heterozygous GDF6 variants in patients with renal anomalies.
Martens H et al.
European Journal of Human Genetics : Ejhg, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report.
Mamelona J et al.
Bmc Medical Genetics, 2019
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Bryant L et al.
Clinical Ophthalmology (auckland, N.z.), 2018
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
Slavotinek AM et al.
Clinical Genetics, 2015
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.
Gerth-Kahlert C et al.
Molecular Genetics & Genomic Medicine, 2013
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.
Asai-Coakwell M et al.
Human Molecular Genetics, 2013
Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates.
Markunas CA et al.
Plos One, 2013
Eye development genes and known syndromes.
Slavotinek AM
Molecular Genetics and Metabolism, 2011
Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies.
den Hollander AI et al.
Bmc Genetics, 2010
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.
Gonzalez-Rodriguez J et al.
The British Journal of Ophthalmology, 2010
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.
Asai-Coakwell M et al.
Human Molecular Genetics, 2009
Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans.
Giampietro PF et al.
Annals of the New York Academy of Sciences, 2009
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
Tassabehji M et al.
Human Mutation, 2008