Evan E Eichler


Ontology type: schema:Person     


Person Info

NAME

Evan E

SURNAME

Eichler

Publications in SciGraph latest 50 shown

  • 2022-10-20 A predictive ensemble classifier for the gene expression diagnosis of ASD at ages 1 to 4 years in MOLECULAR PSYCHIATRY
  • 2022-10-19 Semi-automated assembly of high-quality diploid human reference genomes in NATURE
  • 2022-10-01 The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8 in TRANSLATIONAL PSYCHIATRY
  • 2022-08-18 Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes in NATURE GENETICS
  • 2022-08-12 Author Correction: Comparative and demographic analysis of orang-utan genomes in NATURE
  • 2022-06-17 Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts in NPJ GENOMIC MEDICINE
  • 2022-04-20 The Human Pangenome Project: a global resource to map genomic diversity in NATURE
  • 2022-04-11 Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes in NATURE GENETICS
  • 2021-10-06 Single-cell epigenomics reveals mechanisms of human cortical development in NATURE
  • 2021-08-25 Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans in NATURE COMMUNICATIONS
  • 2021-07-26 Recent ultra-rare inherited variants implicate new autism candidate risk genes in NATURE GENETICS
  • 2021-07-01 Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome in NATURE GENETICS
  • 2021-06-21 Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders in JOURNAL OF NEURODEVELOPMENTAL DISORDERS
  • 2021-05-14 Mining the gaps of chromosome 8 in NATURE
  • 2021-05-05 A high-quality bonobo genome refines the analysis of hominid evolution in NATURE
  • 2021-04-28 Extended haplotype-phasing of long-read de novo genome assemblies using Hi-C in NATURE COMMUNICATIONS
  • 2021-04-19 Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders in GENOME MEDICINE
  • 2021-04-07 The structure, function and evolution of a complete human chromosome 8 in NATURE
  • 2020-12-07 Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads in NATURE BIOTECHNOLOGY
  • 2020-11-11 Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
  • 2020-10-21 Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders in NATURE COMMUNICATIONS
  • 2020-10-01 Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders in NATURE COMMUNICATIONS
  • 2020-08-10 An evolutionary driver of interspersed segmental duplications in primates in GENOME BIOLOGY
  • 2020-07-14 Telomere-to-telomere assembly of a complete human X chromosome in NATURE
  • 2020-06-15 Recurrent inversion toggling and great ape genome evolution in NATURE GENETICS
  • 2020-06-05 Long-read human genome sequencing and its applications in NATURE REVIEWS GENETICS
  • 2020-05-04 Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes in NATURE BIOTECHNOLOGY
  • 2020-02-14 A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo in NATURE GENETICS
  • 2020-01-14 Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations in NATURE COMMUNICATIONS
  • 2019-10-15 Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders in NATURE COMMUNICATIONS
  • 2019-09-17 Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants in NATURE COMMUNICATIONS
  • 2019-08-23 Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes in NPJ GENOMIC MEDICINE
  • 2019-07-26 Evolution of Oryza chloroplast genomes promoted adaptation to diverse ecological habitats in COMMUNICATIONS BIOLOGY
  • 2019-07-12 AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders in NATURE COMMUNICATIONS
  • 2019-04-16 Multi-platform discovery of haplotype-resolved structural variation in human genomes in NATURE COMMUNICATIONS
  • 2018-12-17 Long-read sequence and assembly of segmental duplications in NATURE METHODS
  • 2018-12-17 Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity in NATURE GENETICS
  • 2018-12-13 Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model in MOLECULAR AUTISM
  • 2018-09-17 Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution in NATURE GENETICS
  • 2018-04-19 Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution in NATURE GENETICS
  • 2018-01-22 The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution in NATURE GENETICS
  • 2017-12-05 A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-11-27 Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications in GENOME MEDICINE
  • 2017-10-24 Prospective investigation of FOXP1 syndrome in MOLECULAR AUTISM
  • 2017-10-05 Clinical phenotype of ASD-associated DYRK1A haploinsufficiency in MOLECULAR AUTISM
  • 2017-06-19 Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains in NATURE NEUROSCIENCE
  • 2017-05-26 Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism in JOURNAL OF NEURODEVELOPMENTAL DISORDERS
  • 2017-05-11 The caterpillar fungus, Ophiocordyceps sinensis, genome provides insights into highland adaptation of fungal pathogenicity in SCIENTIFIC REPORTS
  • 2017-04-12 Resolving Multicopy Duplications de novo Using Polyploid Phasing in RESEARCH IN COMPUTATIONAL MOLECULAR BIOLOGY
  • 2017-03-09 The birth of a human-specific neural gene by incomplete duplication and gene fusion in GENOME BIOLOGY
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