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  1. Effects of parental age and polymer composition on short tandem repeat de novo mutation rates.

    Publication

  2. Genetic ablation of GIGYF1, associated with autism, causes behavioral and neurodevelopmental defects in zebrafish and mice.

    Publication

  3. A predictive ensemble classifier for the gene expression diagnosis of ASD at ages 1 to 4 years.

    Publication

  4. Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

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  5. GIGYF1 disruption associates with autism and impaired IGF-1R signaling.

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  6. Rare variants and the oligogenic architecture of autism.

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  7. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

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  8. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.

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  9. De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies.

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  10. Single-cell epigenomics reveals mechanisms of human cortical development.

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  11. Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity.

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  12. Sleep problems in children with ASD and gene disrupting mutations.

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  13. Targeted long-read sequencing identifies missing disease-causing variation.

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  14. Recent ultra-rare inherited variants implicate new autism candidate risk genes.

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  15. Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders.

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  16. The CHD8 CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects

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  17. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

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  18. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

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  19. Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.

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  20. Insufficient evidence for “autism-specific” genes.

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  21. The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism individuals.

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  22. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

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  23. Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.

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  24. Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes.

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  25. Habituation learning is a widely affected mechanism in Drosophila models of intellectual disability and autism spectrum disorders.

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  26. Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.

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  27. Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP.

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  28. Establishing cerebral organoids as models of human-specific brain evolution.

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  29. Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.

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  30. Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

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  31. Human-specific NOTCH2NL genes affect notch signaling and cortical neurogenesis.

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  32. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.

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  33. Longitudinal report of child with de novo 16p11.2 triplication.

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  34. Recurrent de novo mutations in neurodevelopmental disorders: Properties and clinical implications.

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  35. Associations between familial rates of psychiatric disorders and de novo genetic mutations in autism.

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  36. Genomic patterns of de novo mutation in simplex autism.

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  37. Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.

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  38. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

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  39. Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism.

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  40. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

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  41. Denovo-db: A compendium of human de novo variants.

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  42. De novo genic mutations among a Chinese autism spectrum disorder cohort.

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  43. Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.

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  44. Disruption of POGZ is associated with intellectual disability and autism spectrum disorders.

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  45. Molecular subtyping and improved treatment of neurodevelopmental disease.

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  46. Genome sequencing of autism-affected families reveals disruption of putative noncoding regulatory DNA.

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  47. Maternal modifiers and parent-of-origin bias of the autism-associated 16p11.2 CNV.

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  48. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

    Publication