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Personal journeys to and in human genetics and dysmorphology.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63514
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- Article
Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.
- Published in:
- Journal of Autism & Developmental Disorders, 2024, v. 54, n. 6, p. 2386, doi. 10.1007/s10803-023-05897-9
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- Publication type:
- Article
Embryonic origin of two ASD subtypes of social symptom severity: the larger the brain cortical organoid size, the more severe the social symptoms.
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- Molecular Autism, 2024, v. 15, n. 1, p. 1, doi. 10.1186/s13229-024-00602-8
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- Publication type:
- Article
Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.
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- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09532-1
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- Publication type:
- Article
Effects of parental age and polymer composition on short tandem repeat de novo mutation rates.
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- Genetics, 2024, v. 226, n. 4, p. 1, doi. 10.1093/genetics/iyae013
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- Publication type:
- Article
The role of copy number variants in the genetic architecture of common familial epilepsies.
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- Epilepsia (Series 4), 2024, v. 65, n. 3, p. 792, doi. 10.1111/epi.17860
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- Publication type:
- Article
Advances in the discovery and analyses of human tandem repeats.
- Published in:
- Emerging Topics in Life Sciences, 2023, v. 7, n. 3, p. 361, doi. 10.1042/ETLS20230074
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- Article
Whole Genome Analysis of SNV and Indel Polymorphism in Common Marmosets (Callithrix jacchus).
- Published in:
- Genes, 2023, v. 14, n. 12, p. 2185, doi. 10.3390/genes14122185
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- Publication type:
- Article
Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 21, p. 15818, doi. 10.3390/ijms242115818
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- Article
Telomere-to-telomere assembly of diploid chromosomes with Verkko.
- Published in:
- Nature Biotechnology, 2023, v. 41, n. 10, p. 1474, doi. 10.1038/s41587-023-01662-6
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- Publication type:
- Article
Population genetics of marmosets in Asian primate research centers and loci associated with epileptic risk revealed by whole-genome sequencing.
- Published in:
- Zoological Research, 2023, v. 44, n. 5, p. 837, doi. 10.24272/j.issn.2095-8137.2022.514
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- Publication type:
- Article
Characterizing the autism spectrum phenotype in DYRK1A‐related syndrome.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2023, v. 16, n. 8, p. 1488, doi. 10.1002/aur.2995
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- Publication type:
- Article
Characterization of large-scale genomic differences in the first complete human genome.
- Published in:
- Genome Biology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13059-023-02995-w
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- Publication type:
- Article
Applications of long-read sequencing to Mendelian genetics.
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- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01194-3
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- Publication type:
- Article
Inversion polymorphism in a complete human genome assembly.
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- Genome Biology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13059-023-02919-8
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- Publication type:
- Article
GAVISUNK: genome assembly validation via inter-SUNK distances in Oxford Nanopore reads.
- Published in:
- Bioinformatics, 2023, v. 39, n. 1, p. 1, doi. 10.1093/bioinformatics/btac714
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- Publication type:
- Article
The Dynamic Structure and Rapid Evolution of Human Centromeric Satellite DNA.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 92, doi. 10.3390/genes14010092
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- Article
Estimating the Prevalence of De Novo Monogenic Neurodevelopmental Disorders from Large Cohort Studies.
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- Biomedicines, 2022, v. 10, n. 11, p. 2865, doi. 10.3390/biomedicines10112865
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- Publication type:
- Article
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
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- Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02189-1
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- Publication type:
- Article
Targeted Long‐Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B).
- Published in:
- Journal of Bone & Mineral Research, 2022, v. 37, n. 9, p. 1711, doi. 10.1002/jbmr.4647
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- Publication type:
- Article
Functional divergence of the two Elongator subcomplexes during neurodevelopment.
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- EMBO Molecular Medicine, 2022, v. 14, n. 7, p. 1, doi. 10.15252/emmm.202115608
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- Publication type:
- Article
StainedGlass: interactive visualization of massive tandem repeat structures with identity heatmaps.
- Published in:
- Bioinformatics, 2022, v. 38, n. 7, p. 2049, doi. 10.1093/bioinformatics/btac018
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- Publication type:
- Article
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
- Published in:
- 2022
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- Publication type:
- journal article
A family study implicates GBE1 in the etiology of autism spectrum disorder.
- Published in:
- Human Mutation, 2022, v. 43, n. 1, p. 16, doi. 10.1002/humu.24289
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- Publication type:
- Article
Alpha Satellite Insertion Close to an Ancestral Centromeric Region.
- Published in:
- Molecular Biology & Evolution, 2021, v. 38, n. 12, p. 5576, doi. 10.1093/molbev/msab244
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- Publication type:
- Article
Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations.
- Published in:
- Journal of Autism & Developmental Disorders, 2021, v. 51, n. 9, p. 3365, doi. 10.1007/s10803-020-04774-z
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- Publication type:
- Article
Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25435-4
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- Publication type:
- Article
Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders.
- Published in:
- Journal of Neurodevelopmental Disorders, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s11689-021-09371-4
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- Publication type:
- Article
Extended haplotype-phasing of long-read de novo genome assemblies using Hi-C.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-020-20536-y
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- Publication type:
- Article
Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1039, doi. 10.1002/ajmg.a.62057
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- Publication type:
- Article
Diverse genetic causes of polymicrogyria with epilepsy.
- Published in:
- Epilepsia (Series 4), 2021, v. 62, n. 4, p. 973, doi. 10.1111/epi.16854
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- Publication type:
- Article
Developmental Predictors of Cognitive and Adaptive Outcomes in Genetic Subtypes of Autism Spectrum Disorder.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 10, p. 1659, doi. 10.1002/aur.2385
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- Publication type:
- Article
A Novel Framework for Characterizing Genomic Haplotype Diversity in the Human Immunoglobulin Heavy Chain Locus.
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.02136
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- Publication type:
- Article
Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 8, p. 1300, doi. 10.1002/aur.2332
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- Publication type:
- Article
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
- Published in:
- Human Mutation, 2020, v. 41, n. 5, p. 921, doi. 10.1002/humu.23992
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- Publication type:
- Article
Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 2, p. 125, doi. 10.1111/ahg.12364
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- Publication type:
- Article
Phenotype‐to‐genotype approach reveals head‐circumference‐associated genes in an autism spectrum disorder cohort.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 2, p. 338, doi. 10.1111/cge.13665
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- Publication type:
- Article
Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates.
- Published in:
- Genes, 2020, v. 11, n. 2, p. 213, doi. 10.3390/genes11020213
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- Publication type:
- Article
Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12174-w
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- Publication type:
- Article
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0093-8
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- Publication type:
- Article
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00611
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- Publication type:
- Article
Evolution of Oryza chloroplast genomes promoted adaptation to diverse ecological habitats.
- Published in:
- Communications Biology, 2019, v. 2, n. 1, p. N.PAG, doi. 10.1038/s42003-019-0531-2
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- Publication type:
- Article
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.pgen.1008075
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- Publication type:
- Article
The novel lncRNA lnc-NR2F1 is proneurogenic and mutated in human neurodevelopmental disorders.
- Published in:
- eLife, 2019, p. 1, doi. 10.7554/eLife.41770
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- Publication type:
- Article
The autism spectrum phenotype in ADNP syndrome.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2018, v. 11, n. 9, p. 1300, doi. 10.1002/aur.1980
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- Publication type:
- Article
Strand-seq enables reliable separation of long reads by chromosome via expectation maximization.
- Published in:
- Bioinformatics, 2018, v. 34, n. 13, p. i115, doi. 10.1093/bioinformatics/bty290
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- Publication type:
- Article
Comorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk.
- Published in:
- Journal of Child Psychology, 2018, v. 59, n. 3, p. 268, doi. 10.1111/jcpp.12815
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- Publication type:
- Article
Longitudinal report of child with de novo 16p11.2 triplication.
- Published in:
- 2018
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- Publication type:
- Case Study
Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.
- Published in:
- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0498-x
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- Publication type:
- Article
Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism.
- Published in:
- Autism Research & Treatment, 2017, p. 1, doi. 10.1155/2017/9371964
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- Publication type:
- Article