Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

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Items 101–163 of 163

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    Omri Bar, Elizabeth Vahey, Mark Mintz, Richard E. Frye, Richard G. Boles · 2024 · International Journal of Molecular Sciences
  6. Copy Number Variation Analysis of Euploid Pregnancy Loss
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  11. Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis
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    Anne S. Bassett, Stephen W. Scherer · 2017 · Neuron
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    Afif Ben‐Mahmoud, Kyung Ran Jun, Vijay R. Gupta, Pinang Shastri, Alberto de la Fuente, Yongsoo Park, Kyung Chul Shin, Chong Ae Kim, Aparecido Divino da Cruz, Irene Plaza Pinto et al. · 2022 · Frontiers in Molecular Neuroscience
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    Fuad M. Alkoot, Abdullah K. Alqallaf · 2016 · International Journal of Data Mining and Bioinformatics
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    Youngha Lee, Soojin Park, Jin Sook Lee, Soo Yeon Kim, Jaeso Cho, Yongjin Yoo, Sangmoon Lee, Taekyeong Yoo, Moses Lee, Jieun Seo et al. · 2020 · Scientific Reports
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  18. Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots
    Mohammed J. Uddin, Marc Woodbury‐Smith, Ada J. S. Chan, Ammar Albanna, Berge Arakel Minassian, Cyrus G. Boelman, Stephen W. Scherer · 2018 · G3 Genes Genomes Genetics
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  21. Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders
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    Özcan YILDIRIM, Feyza Altunbey Ozbay · 2022 · European Journal of Science and Technology
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    Xiaoling Chen, Jingliang Zhang, Jiaxiang Wu, Morgan J. Robinson, Harish Kothandaraman, Ye-Eun Yoo, Iria G. Dopeso‐Reyes, Thomas D Buffenoir, Manasi Suchit Halurkar, Hui Yang et al. · 2026 · Neuron
  25. Genomic imbalance in euploid pregnancy loss
    Chongjuan Gu, Kuanrong Li, Ling Li, Huan Gao, Ru Li, Yaojuan He · 2022 · Journal of Assisted Reproduction and Genetics
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    Sankar Subramanian · 2018 · Human Genomics
  37. Molecular diagnosis of autism spectrum disorder through whole exome sequencing
    Tatiana Ferreira de Almeida · 2019 · Digital Library of Theses and Dissertations (Universidade de São Paulo)
  38. Multi-hit autism genomic architecture evidenced from consanguineous families with involvement of FEZF2 and mutations in high-risk genes
    Mounia Bensaid, Yann Loe-Mie, Aude-Marie Lepagnol-Bestel, Wenqi Han, Gabriel Santpere, Thomas Klarić, Christine Plançon, Rim Roudies, Imane Benhima, Nisrine Tarik et al. · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
  39. Full-length isoform transcriptome of developing human brain provides new insights into autism
    Kevin Chau, Pan Zhang, Jorge Urresti, Megha Amar, Akula Bala Pramod, Jiaye Chen, Amy Thomas, Roser Corominas, Guan Ning Lin, Lilia M. Iakoucheva · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
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  48. High Sensitivity for Detection of Primary Diagnostic Variants in Autism Spectrum Disorder, Including De Novo Variants, with Trio Whole Genome Sequencing and Data Reanalysis
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  49. Current Tools for Interpretation of Genomic Copy Number Variants
    Abdul Noor, Dimitri James Stavropoulos · 2015 · Current Genetic Medicine Reports
  50. Contribution of Rare Copy Number Variants to the Development of Autism Spectrum Disorder in High-risk Siblings
    Lia D’Abate · 2016
  51. Title:'Genetic'heterogeneity'in'autism:'from'single'gene'to'a' pathway'perspective'
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  52. Experiments on weighted classifier fusion for autism detection using gene tic data
    Muhammad Shofi Fuad · 2016 · International Conference on Advances in Bio-Informatics, Bio-Technology and Environmental Engineering (ABBE)
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  54. NeuroSCORE: A Genome-wide Omics-Based Model to Identify Candidate Disease Genes of the Central Nervous System
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  59. Bibliographie
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  61. Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data
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