|
| 37031308 | Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability. | J Autism Dev Disord | 2024 |
| 37031308 | Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability. | J Autism Dev Disord | 2024 |
| 36266569 | A predictive ensemble classifier for the gene expression diagnosis of ASD at ages 1 to 4 years. | Mol Psychiatry | 2023 |
| 36266569 | A predictive ensemble classifier for the gene expression diagnosis of ASD at ages 1 to 4 years. | Mol Psychiatry | 2023 |
| 37922882 | Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes. | Am J Hum Genet | 2023 |
| 37905568 | Advances in the discovery and analyses of human tandem repeats. | Emerg Top Life Sci | 2023 |
| 38062027 | TAD evolutionary and functional characterization reveals diversity in mammalian TAD boundary properties and function. | Nat Commun | 2023 |
| 37612512 | The complete sequence of a human Y chromosome. | Nature | 2023 |
| 37612510 | Assembly of 43 human Y chromosomes reveals extensive complexity and variation. | Nature | 2023 |
| 36778386 | Structural variation across 138,134 samples in the TOPMed consortium. | Res Sq | 2023 |
| 37205567 | Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall. | bioRxiv | 2023 |
| 37398417 | The variation and evolution of complete human centromeres. | bioRxiv | 2023 |
| 37398376 | Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder. | medRxiv | 2023 |
| 37256937 | PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production. | Sci Transl Med | 2023 |
| 36945442 | Structurally divergent and recurrently mutated regions of primate genomes. | bioRxiv | 2023 |
| 37316925 | Applications of long-read sequencing to Mendelian genetics. | Genome Med | 2023 |
| 37122002 | Inversion polymorphism in a complete human genome assembly. | Genome Biol | 2023 |
| 36747810 | Structural variation across 138,134 samples in the TOPMed consortium. | bioRxiv | 2023 |
| 36745127 | Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. | Genet Med | 2023 |
| 36865218 | Phased nanopore assembly with Shasta and modular graph phasing with GFAse. | bioRxiv | 2023 |
| 36797493 | Telomere-to-telomere assembly of diploid chromosomes with Verkko. | Nat Biotechnol | 2023 |
| 36539592 | Characterization of the immunoglobulin lambda chain locus from diverse populations reveals extensive genetic variation. | Genes Immun | 2023 |
| 37228752 | Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements. | Cell Genom | 2023 |
| 36924980 | Genetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects in Zebrafish and Mice. | Biol Psychiatry | 2023 |
| 37225732 | Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts. | NPJ Genom Med | 2023 |
| 37164484 | Gaps and complex structurally variant loci in phased genome assemblies. | Genome Res | 2023 |
| 37501399 | Population genetics of marmosets in Asian primate research centers and loci associated with epileptic risk revealed by whole-genome sequencing. | Zool Res | 2023 |
| 37497568 | Characterizing the autism spectrum phenotype in DYRK1A-related syndrome. | Autism Res | 2023 |
| 37492108 | Sampling a wide swathe of primate genetic diversity. | Cell Genom | 2023 |
| 37492108 | Sampling a wide swathe of primate genetic diversity. | Cell Genom | 2023 |
| 37905568 | Advances in the discovery and analyses of human tandem repeats. | Emerg Top Life Sci | 2023 |
| 38062027 | TAD evolutionary and functional characterization reveals diversity in mammalian TAD boundary properties and function. | Nat Commun | 2023 |
| 37612512 | The complete sequence of a human Y chromosome. | Nature | 2023 |
| 37612510 | Assembly of 43 human Y chromosomes reveals extensive complexity and variation. | Nature | 2023 |
| 37501399 | Population genetics of marmosets in Asian primate research centers and loci associated with epileptic risk revealed by whole-genome sequencing. | Zool Res | 2023 |
| 37497568 | Characterizing the autism spectrum phenotype in DYRK1A-related syndrome. | Autism Res | 2023 |
| 37922882 | Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes. | Am J Hum Genet | 2023 |
| 37256937 | PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production. | Sci Transl Med | 2023 |
| 37122002 | Inversion polymorphism in a complete human genome assembly. | Genome Biol | 2023 |
| 37316925 | Applications of long-read sequencing to Mendelian genetics. | Genome Med | 2023 |
| 36945442 | Structurally divergent and recurrently mutated regions of primate genomes. | bioRxiv | 2023 |
| 37205567 | Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall. | bioRxiv | 2023 |
| 37398417 | The variation and evolution of complete human centromeres. | bioRxiv | 2023 |
| 37398376 | Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder. | medRxiv | 2023 |
| 37228752 | Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements. | Cell Genom | 2023 |
| 37164484 | Gaps and complex structurally variant loci in phased genome assemblies. | Genome Res | 2023 |
| 37225732 | Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts. | NPJ Genom Med | 2023 |
| 36924980 | Genetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects in Zebrafish and Mice. | Biol Psychiatry | 2023 |
| 36747810 | Structural variation across 138,134 samples in the TOPMed consortium. | bioRxiv | 2023 |
| 36778386 | Structural variation across 138,134 samples in the TOPMed consortium. | Res Sq | 2023 |