Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

Cited by (341)

Items 301–341 of 341

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4. Synaptic protein DLG2 controls neurogenic transcriptional programs disrupted in schizophrenia and related disorders
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5. NeuroSCORE: A Genome-wide Omics-Based Model to Identify Candidate Disease Genes of the Central Nervous System
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7. Biomarkers for Early Diagnosis of Autism Obtained Through Bioinformatics Analysis of Human Blood Samples
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8. Principal Molecular Pathways Affected in Autism Spectrum Disorder
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9. Faculty Opinions recommendation of Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
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10. Faculty Opinions recommendation of Identification of common genetic risk variants for autism spectrum disorder.
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11. Faculty Opinions recommendation of The ASD Living Biology: from cell proliferation to clinical phenotype.
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12. Faculty Opinions recommendation of A map of constrained coding regions in the human genome.
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13. Faculty Opinions recommendation of A map of constrained coding regions in the human genome.
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14. Faculty Opinions recommendation of Evidence for 28 genetic disorders discovered by combining healthcare and research data.
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15. Faculty Opinions recommendation of Inherited and de novo genetic risk for autism impacts shared networks.
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16. Faculty Opinions recommendation of Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.
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17. Faculty Opinions recommendation of Inherited and de novo genetic risk for autism impacts shared networks.
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18. Novel Approaches for Treating Pediatric Psychiatric Disorders
    Supritha Prasad, Edwin H. Cook · 2017 · Oxford University Press eBooks
19. Response to Ramos et al
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20. Additional file 1 of Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report
    Xin Xu, Fen Lu, Li Zhang, Hongying Li, Senjie Du, Jian Tang · 2021 · Figshare
21. MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway
    Maolei Gong, Jiayi Li, Yijun Liu, Matheus Vernet Machado Bressan Wilke, Qian Li, Haoran Liu, Liang Chen, Joel A. Morales‐Rosado, Ana S.A. Cohen, Susan Starling Hughes et al. · 2024 · medRxiv
22. A novel AUTS2 variant in a patient with global developmental delay and intellectual disability
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23. The Use of Next-Generation Sequencing in Diagnosing Inherited Atypical Parkinsonian Disorders
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24. WITHDRAWN: MIRAGE: a Bayesian rare variant association analysis method incorporating functional information of variants
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25. Neurodevelopment and Drugs
    Claire E. Wing, Emma G. Foster, Micah Summerlin, Aditya N. Bade · 2024 · Springer eBooks
26. Machine Learning-Based Classification of ASD for Improved Diagnostic Accuracy
    Ishdeep Singla, Onkesh Onkesh, Sanjay Singla, Narinder Yadav, Priti Singla, Jyoti Rani · 2024 · International Conference on Advanced Computing & Communication Technologies (ICACCTech)
27. Genetics of female pelvic organ prolapse
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28. MED13L pathogenic missense variants impair protein stability and interaction, underlying diverse clinical outcomes
    Thomas Smol, Frédéric Frénois, Morgane Billotte, Roseline Caumes, Leonie A. Menke, Amara Nassar‐Sheikh Rashid, Caroline Thuillier, Didier Monté, Florence Petit, Alexis Verger et al. · 2025 · Human Genetics and Genomics Advances
29. First Report of a Familiar MYCBP2 Pathogenic Variant: Expanding the Knowledge of Neurodevelopmental Disorders
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30. Evolution of DEE-SWAS into photosensitive epilepsy in a patient with an ASH1L gene mutation
    Хачатрян Роза Гургеновна · 2025 · S S Korsakov Journal of Neurology and Psychiatry
31. Additional file 1 of Recurrent myocardial injury in a de novo SON mutation ZTTK syndrome patient: a case report
    Na, Jia, Lang Cui, Zhen Zhen, Chen, Xi, Li, Qirui, Lu Gao, Yue Yang Yuan · 2024 · Figshare
32. Additional file 1 of Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
    Dennis Lal, May, Patrick, Eduardo Pérez‐Palma, Samocha, Kaitlin E., Jack A. Kosmicki, Elise Robinson, Rikke Steensbjerre Møller, Krause, Roland, Nürnberg, Peter, Sarah Weckhuysen et al. · 2020 · Figshare
33. Additional file 2 of Recurrent myocardial injury in a de novo SON mutation ZTTK syndrome patient: a case report
    Na, Jia, Lang Cui, Zhen Zhen, Chen, Xi, Li, Qirui, Lu Gao, Yue Yang Yuan · 2024 · Figshare
34. A Cell-Based Assay to Categorize Variants of Human Succinate Semialdehyde Dehydrogenase Associated with Autism Spectrum Disorder
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35. Systemic characterization of pathogenic GABRA1 missense variants
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36. Evolution of DEE-SWAS into Photosensitive Epilepsy in a Patient with a Mutation in the ASH1L Gene
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37. Genetic alterations in SUPT6H are associated with neurodevelopmental disorders
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39. A novel homozygous variant in the POLR1A gene: a complicated hereditary spastic paraplegia (c-HSP) or a hypomyelinating leukodystrophy type-27 (HLD27) phenotype?
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40. Integrin–Talin axis regulates mechanosensory presynaptic development and behavioral habituation to mechanical stimulation
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41. Programmed repair of disease-causing UGA premature termination codons in mammalian brain
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