Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
暂无分享,去创建一个
L. Hoefsloot | G. Geeven | G. Mancini | V. Verhoeven | J. Saris | M. Wilke | M. Nellist | M. Joosten | F. Verheijen | I. M. van de Laar | R. Schot | M. L. T. van der Sterre | L. V. van Unen | P. Elfferich | T. V. van Ham | A. Kievit | M. Hoogeveen‐Westerveld | Monique Williams | H. Huidekoper | Y. van Ierland | Daphne J. Smits | H. Douben | M. Bongaerts | K. Monfils | W. D. de Valk | E. Kasteleijn | F. Sadeghi Niaraki | Jordy Dekker | M. V. van Veghel-Plandsoen | Daphne J Smits | M. V. van Veghel-Plandsoen
[1] L. Hoefsloot,et al. High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing , 2022, Human mutation.
[2] E. Ashley,et al. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome , 2022, Genome medicine.
[3] D. Baralle,et al. MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease , 2022, American journal of human genetics.
[4] I. Blümcke,et al. DNA methylation-based classification of malformations of cortical development in the human brain , 2021, Acta Neuropathologica.
[5] Julius O. B. Jacobsen,et al. The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report , 2021, The New England journal of medicine.
[6] M. Fornerod,et al. Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist. , 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[7] J. Thevenon,et al. Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature. , 2021, European Journal of Medical Genetics.
[8] M. Friez,et al. Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant , 2021, Cold Spring Harbor molecular case studies.
[9] B. Wirth,et al. VPS13D: One Family, Same Mutations, Two Phenotypes , 2021, Movement disorders clinical practice.
[10] Robert W. Taylor,et al. Clinical implementation of RNA sequencing for Mendelian disease diagnostics , 2021, Genome Medicine.
[11] R. Nussbaum,et al. Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation , 2021, American journal of human genetics.
[12] Vicente A. Yépez,et al. Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders , 2021, medRxiv.
[13] Yue Cao,et al. An ESCRT-dependent step in fatty acid transfer from lipid droplets to mitochondria through VPS13D−TSG101 interactions , 2021, Nature communications.
[14] Vicente A. Yépez,et al. Detection of aberrant splicing events in RNA-seq data using FRASER , 2021, Nature Communications.
[15] D. Jabaudon,et al. Mapping the molecular and cellular complexity of cortical malformations , 2021, Science.
[16] Vicente A. Yépez,et al. Detection of aberrant gene expression events in RNA sequencing data , 2021, Nature Protocols.
[17] Lisha Li,et al. How to reprogram human fibroblasts to neurons , 2020, Cell & Bioscience.
[18] David R. Murdock,et al. Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. , 2020, The Journal of clinical investigation.
[19] G. Carvill,et al. Poison exons in neurodevelopment and disease. , 2020, Current opinion in genetics & development.
[20] F. Alkuraya,et al. Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics , 2020, Genome Biology.
[21] K. Ramzan,et al. A de novo variant of CHD8 in a patient with autism spectrum disorder , 2020, Discoveries.
[22] M. Shaw,et al. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders. , 2020, American journal of human genetics.
[23] S. Hamada,et al. VPS13D‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia , 2019, Molecular genetics & genomic medicine.
[24] K. Nathanson,et al. The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients , 2019, American journal of medical genetics. Part C, Seminars in medical genetics.
[25] M. Fornerod,et al. TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities. , 2019, American journal of human genetics.
[26] Y. Liu,et al. Germline de novo variants in CSNK2B in Chinese patients with epilepsy , 2019, Scientific Reports.
[27] Neil H. Parker,et al. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases , 2019, Genetics in Medicine.
[28] Steven L Salzberg,et al. Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype , 2019, Nature Biotechnology.
[29] D. Misceo,et al. TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery. , 2019, Pediatric neurology.
[30] S. Scherer,et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders , 2019, Genetics in Medicine.
[31] Benjamin J. Strober,et al. Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts , 2019, Nature Medicine.
[32] G. Schaaf,et al. Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics , 2019, Brain : a journal of neurology.
[33] David G. Knowles,et al. Predicting Splicing from Primary Sequence with Deep Learning , 2019, Cell.
[34] T. Ogata,et al. Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures , 2019, Journal of Human Genetics.
[35] Michael A. Cortazar,et al. How to get away with nonsense: Mechanisms and consequences of escape from nonsense‐mediated RNA decay , 2019, Wiley interdisciplinary reviews. RNA.
[36] Arun K. Ramani,et al. Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. , 2019, American Journal of Human Genetics.
[37] M. Sturm,et al. Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)? , 2018, Acta Neuropathologica Communications.
[38] Arthur S. Lee,et al. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. , 2018, American journal of human genetics.
[39] Jun Z. Li,et al. Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects , 2018, Annals of neurology.
[40] H. Prokisch,et al. Recessive mutations in VPS13D cause childhood onset movement disorders , 2018, Annals of neurology.
[41] Ziga Avsec,et al. OUTRIDER: A statistical method for detecting aberrantly expressed genes in RNA sequencing data , 2018, bioRxiv.
[42] J. Mattick,et al. Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing , 2018, The Medical journal of Australia.
[43] K. Kosaki,et al. Truncating mutation in CSNK2B and myoclonic epilepsy , 2017, Human mutation.
[44] P. Billuart,et al. CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy , 2017, Human mutation.
[45] Sanjay P. Prabhu,et al. AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant , 2017, Cold Spring Harbor molecular case studies.
[46] C. Walsh,et al. Biallelic Mutations In Human DCC Cause Developmental Split Brain Syndrome , 2017, Nature Genetics.
[47] Thomas Meitinger,et al. Genetic diagnosis of Mendelian disorders via RNA sequencing , 2017, Nature Communications.
[48] Francesco Muntoni,et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing , 2016, Science Translational Medicine.
[49] Raymond Dalgleish,et al. HGVS Recommendations for the Description of Sequence Variants: 2016 Update , 2016, Human mutation.
[50] Lior Pachter,et al. Near-optimal probabilistic RNA-seq quantification , 2016, Nature Biotechnology.
[51] J. Carpten,et al. Translating RNA sequencing into clinical diagnostics: opportunities and challenges , 2016, Nature Reviews Genetics.
[52] Liewei Wang,et al. Measure transcript integrity using RNA-seq data , 2016, BMC Bioinformatics.
[53] Jörg Hakenberg,et al. Disease-associated variants in different categories of disease located in distinct regulatory elements , 2015, BMC Genomics.
[54] Nathan Morris,et al. Codon Optimality Is a Major Determinant of mRNA Stability , 2015, Cell.
[55] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[56] C. Klaver,et al. Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. , 2015, Ophthalmology.
[57] Jay Shendure,et al. Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development , 2014, Cell.
[58] A. Nakashima,et al. Identification of Regions Critical for the Integrity of the TSC1-TSC2-TBC1D7 Complex , 2014, PloS one.
[59] J. Chrast,et al. TBC1D7 Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease , 2014, Human mutation.
[60] Dvir Dahary,et al. Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2. , 2013, Pediatric neurology.
[61] Philippe P Roux,et al. Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly , 2013, Journal of Medical Genetics.
[62] P. Finan,et al. TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. , 2012, Molecular cell.
[63] Wei Li,et al. RSeQC: quality control of RNA-seq experiments , 2012, Bioinform..
[64] J. Veltman,et al. De novo mutations in human genetic disease , 2012, Nature Reviews Genetics.
[65] Peter Johnson,et al. Prediction of single‐nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6 , 2011, Human mutation.
[66] Helga Thorvaldsdóttir,et al. Integrative Genomics Viewer , 2011, Nature Biotechnology.
[67] H. Ropers. Genetics of early onset cognitive impairment. , 2010, Annual review of genomics and human genetics.
[68] D. G. Gibson,et al. Enzymatic assembly of DNA molecules up to several hundred kilobases , 2009, Nature Methods.
[69] Xiao-qing Liu,et al. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. , 2007, American journal of human genetics.
[70] Colin A. Johnson,et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome , 2007, Nature Genetics.
[71] M. Raponi,et al. Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[72] P. Bénit,et al. AIF deficiency compromises oxidative phosphorylation , 2004, The EMBO journal.
[73] Christopher B. Burge,et al. RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons , 2004, Nucleic Acids Res..
[74] Jinhua Wang,et al. ESEfinder: a web resource to identify exonic splicing enhancers , 2003, Nucleic Acids Res..
[75] Ruedi Aebersold,et al. Molecular characterization of mitochondrial apoptosis-inducing factor , 1999, Nature.
[76] R. Snell,et al. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. , 1998, Human molecular genetics.