Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders
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Kuokuo Li | Xiaomeng Wang | Guihu Zhao | T. Luo | L. Xia | Jinchen Li | Yijing Wang | Xiaojin He | Rong Hua | D. Tang | Bin Li | Aojie Lian | Lijie Dong | Mingrong Lv | Zhengbao Ling | Rui Guo | Kun Xia | Jifang Xiao | Jingyu Xiong | Qian Chen | Zhaowei Jiang | Zhen Yu | Yunxia Cao
[1] K. Xia,et al. Performance evaluation of differential splicing analysis methods and splicing analytics platform construction , 2022, Nucleic acids research.
[2] E. Eichler,et al. GIGYF1 disruption associates with autism and impaired IGF-1R signaling , 2022, The Journal of clinical investigation.
[3] D. Baralle,et al. A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project , 2022, Genome Medicine.
[4] Vicente A. Yépez,et al. Aberrant splicing prediction across human tissues , 2022, bioRxiv.
[5] Zhongsheng Sun,et al. Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder , 2022, EBioMedicine.
[6] Sicong Zeng,et al. RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders , 2022, Journal of Medical Genetics.
[7] D. Baralle,et al. A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project , 2022, medRxiv.
[8] Robert J. Weatheritt,et al. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants. , 2021, Genetics in medicine : official journal of the American College of Medical Genetics.
[9] Hsin-Nan Lin,et al. Mechanism and modeling of human disease-associated near-exon intronic variants that perturb RNA splicing , 2021, Nature Structural & Molecular Biology.
[10] Y. Bromberg,et al. Decoding the effects of synonymous variants , 2021, bioRxiv.
[11] D. Baralle,et al. Splicing in the Diagnosis of Rare Disease: Advances and Challenges , 2021, Frontiers in Genetics.
[12] B. Greenberg,et al. Exome sequencing in obsessive–compulsive disorder reveals a burden of rare damaging coding variants , 2021, Nature Neuroscience.
[13] N. Matoba,et al. Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder , 2021, Nature Communications.
[14] Chunyu Liu,et al. Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders , 2021, Journal of Autism and Developmental Disorders.
[15] 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.
[16] R. Person,et al. CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders , 2021, Brain : a journal of neurology.
[17] Michael H. Guo,et al. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency , 2021, medRxiv.
[18] Xiaoming Liu,et al. dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs , 2020, Genome Medicine.
[19] C. Lelliott,et al. Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. , 2020, American journal of human genetics.
[20] N. Brown,et al. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism. , 2020, American journal of human genetics.
[21] Richard A Marini,et al. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders , 2020, Nature Communications.
[22] Patrick J. Short,et al. Evidence for 28 genetic disorders discovered by combining healthcare and research data , 2020, Nature.
[23] C. Cytrynbaum,et al. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. , 2020, American journal of human genetics.
[24] D. Baralle,et al. Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance , 2020, Genetics in Medicine.
[25] M. Daly,et al. Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations , 2019, Nature Neuroscience.
[26] Michael T. Eadon,et al. RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants , 2019, Genome Biology.
[27] Z. Wang,et al. Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans , 2019, Nucleic Acids Res..
[28] Laura Pérez-Cano,et al. Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks , 2019, Cell.
[29] Emily K. Mis,et al. Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome , 2019, bioRxiv.
[30] N. Zhang,et al. Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism , 2019, Genetics in Medicine.
[31] Jen Q. Pan,et al. Predicting functional effects of missense variants in voltage-gated sodium and calcium channels , 2019, Science Translational Medicine.
[32] Matthew W. Mosconi,et al. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism , 2019, Cell.
[33] Meghan T. Miller,et al. Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder , 2019, Brain : a journal of neurology.
[34] David G. Knowles,et al. Predicting Splicing from Primary Sequence with Deep Learning , 2019, Cell.
[35] E. M. Jones,et al. A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions. , 2019, Molecular cell.
[36] Ryan L. Collins,et al. Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder , 2018, Science.
[37] Jeffrey D. Mandell,et al. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. , 2018, Cell reports.
[38] Trygve E Bakken,et al. Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity , 2018, Nature Genetics.
[39] A. Spurdle,et al. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort , 2018, Nucleic Acids Research.
[40] Patrick J. Short,et al. Pathogenicity and selective constraint on variation near splice sites , 2018, bioRxiv.
[41] Yi Zhang,et al. Performance evaluation of pathogenicity-computation methods for missense variants , 2018, Nucleic acids research.
[42] Scott I. Adamson,et al. Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency , 2018, Genome Biology.
[43] David Haussler,et al. Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis , 2018, Cell.
[44] A. Spurdle,et al. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort , 2018, Nucleic acids research.
[45] Bradley P. Coe,et al. Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications , 2017, Genome Medicine.
[46] M. Rivas,et al. Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides , 2017, bioRxiv.
[47] Kamil J. Cygan,et al. Pathogenic variants that alter protein code often disrupt splicing , 2017, Nature Genetics.
[48] B. Frey,et al. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder , 2017, Nature Neuroscience.
[49] S. Mccarroll,et al. Functional analysis of rare variants found in schizophrenia implicates a critical role for GIT1–PAK3 signaling in neuroplasticity , 2017, Molecular Psychiatry.
[50] Xin Gao,et al. A new mode of SAM domain mediated oligomerization observed in the CASKIN2 neuronal scaffolding protein , 2016, Cell Communication and Signaling.
[51] C. Shaw,et al. De Novo Truncating Mutation of TRIM8 Causes Early‐Onset Epileptic Encephalopathy , 2016, Annals of human genetics.
[52] Christian Gilissen,et al. ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation , 2016, Nature Communications.
[53] Iuliana Ionita-Laza,et al. De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia , 2016, Neuron.
[54] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[55] H. Rehm,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] Eric Boerwinkle,et al. In silico prediction of splice-altering single nucleotide variants in the human genome , 2014, Nucleic acids research.
[57] Christopher S. Poultney,et al. Synaptic, transcriptional, and chromatin genes disrupted in autism , 2014, Nature.
[58] Boris Yamrom,et al. The contribution of de novo coding mutations to autism spectrum disorder , 2014, Nature.
[59] Sharmila Banerjee-Basu,et al. SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs) , 2013, Molecular Autism.
[60] C. Pozniak,et al. JNK-mediated phosphorylation of DLK suppresses its ubiquitination to promote neuronal apoptosis , 2013, The Journal of cell biology.
[61] Michael R. Johnson,et al. De novo mutations in the classic epileptic encephalopathies , 2013, Nature.
[62] N. Simonis,et al. FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly , 2013, Journal of Medical Genetics.
[63] B. V. van Bon,et al. Diagnostic exome sequencing in persons with severe intellectual disability. , 2012, The New England journal of medicine.
[64] T. Cooper. Use of minigene systems to dissect alternative splicing elements. , 2005, Methods.
[65] R. Guigó,et al. Are splicing mutations the most frequent cause of hereditary disease? , 2005, FEBS letters.
[66] M. Patton,et al. Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance , 1995, European Journal of Pediatrics.
[67] E. Guest. Effort , 1924, Definitions.
[68] De novo mutations in epileptic encephalopathies , 2013 .