pxlence - knowledge center
Articles
Scientific articles by pxlence co-authors describing the core technologies
Performance evaluation of three DNA sample tracking tools in a whole exome sequencing workflow
bioRxiv (2022)
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High-throughput PCR assay design for targeted resequencing using primerXL
BMC Bioinformatics (2017)
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Targeted resequencing and variant validation using pxlence PCR assays
Biomolecular Detection and Quantification (2016)
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Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice
Human mutation (2015)
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Peer-reviewed articles using pxlence PCR assays
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene
Ophthalmic Genetics (2021)
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A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair
Front Immunology (2021)
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Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity
Front Genetics (2021)
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Successful renal transplantation in a family with a novel mutation in COL4A3 gene and autosomal recessive Alport syndrome
Nephrology (2020)
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Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility
Human Mutation (2020)
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Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children
Scientific Reports (2020)
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SRSF2 Mutations in Uveal Melanoma: A Preference for In-Frame Deletions?
Cancers (2019)
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The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond
Human Mutation (2019)
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A cancer vaccine approach for personalized treatment of Lynch Syndrome
Scientific Reports (2018)
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Accurate detection and quantification of epigenetic and genetic second hits in BRCA1 and BRCA2-associated hereditary breast and ovarian cancer reveals multiple co-acting second hits
Cancer Letters (2018)
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A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy
Molecular Genetics & Genomic Medicine (2018)
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Diagnosis of Fanconi Anaemia by ionising radiation- or mitomycin C-induced micronuclei
DNA Repair (2018)
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Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families
Molecular Genetics & Genomic Medicine (2018)
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The mutational landscape of MYCN, Lin28b and ALKF1174L driven murine neuroblastoma mimics human disease
Oncotarget (2017)
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arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
Genetics in Medicine (2017)
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Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome
American Journal of Medical Genetics (2017)
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Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families
PLoS One (2017)
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Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination
American Journal of Human Genetics (2016)
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BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer
BMC Cancer (2015)
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Target enrichment using parallel nanoliter quantitative PCR amplification
BMC Genomics (2014)
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Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis
Genetics in Medicine (2012)
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Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform
BMC Medical Genomics (2012)
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