Evan E Eichler

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Evan E



Publications in SciGraph latest 50 shown

  • 2019-01 Long-read sequence and assembly of segmental duplications in NATURE METHODS
  • 2019-01 Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity in NATURE GENETICS
  • 2018-12-03 Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes in GENETICS IN MEDICINE
  • 2018-12 Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model in MOLECULAR AUTISM
  • 2018-11-08 The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome in GENETICS IN MEDICINE
  • 2018-11 Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution in NATURE GENETICS
  • 2018-05 Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution in NATURE GENETICS
  • 2018-02 The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution in NATURE GENETICS
  • 2018-01 A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-12 Prospective investigation of FOXP1 syndrome in MOLECULAR AUTISM
  • 2017-12 The caterpillar fungus, Ophiocordyceps sinensis, genome provides insights into highland adaptation of fungal pathogenicity in SCIENTIFIC REPORTS
  • 2017-12 Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications in GENOME MEDICINE
  • 2017-12 Epigenetic origin of evolutionary novel centromeres in SCIENTIFIC REPORTS
  • 2017-12 Discovery of large genomic inversions using long range information in BMC GENOMICS
  • 2017-12 The birth of a human-specific neural gene by incomplete duplication and gene fusion in GENOME BIOLOGY
  • 2017-12 Clinical phenotype of ASD-associated DYRK1A haploinsufficiency in MOLECULAR AUTISM
  • 2017-12 Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism in JOURNAL OF NEURODEVELOPMENTAL DISORDERS
  • 2017-08 Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains in NATURE NEUROSCIENCE
  • 2017-04 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases in NATURE GENETICS
  • 2017-02-17 The evolution and population diversity of human-specific segmental duplications in NATURE ECOLOGY & EVOLUTION
  • 2017-02 Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism in HUMAN GENETICS
  • 2017 Targeted Capture and High-Throughput Sequencing Using Molecular Inversion Probes (MIPs) in GENOTYPING
  • 2017 Resolving Multicopy Duplications de novo Using Polyploid Phasing in RESEARCH IN COMPUTATIONAL MOLECULAR BIOLOGY
  • 2016-12 Molecular subtyping and improved treatment of neurodevelopmental disease in GENOME MEDICINE
  • 2016-11-08 De novo genic mutations among a Chinese autism spectrum disorder cohort in NATURE COMMUNICATIONS
  • 2016-10-06 A high-quality human reference panel reveals the complexity and distribution of genomic structural variants in NATURE COMMUNICATIONS
  • 2016-08 De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-08 Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility in NATURE
  • 2016-06-30 Long-read sequencing and de novo assembly of a Chinese genome in NATURE COMMUNICATIONS
  • 2016-05 The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-01 Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID in MOLECULAR PSYCHIATRY
  • 2015-11 Genetic variation and the de novo assembly of human genomes in NATURE REVIEWS GENETICS
  • 2015-10 An integrated map of structural variation in 2,504 human genomes in NATURE
  • 2015-10 A global reference for human genetic variation in NATURE
  • 2015-06 Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity in GENETICS IN MEDICINE
  • 2015-06 Excess of rare, inherited truncating mutations in autism in NATURE GENETICS
  • 2015-01 Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity in GENES & IMMUNITY
  • 2015-01 Resolving the complexity of the human genome using single-molecule sequencing in NATURE
  • 2014-12 Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability in NATURE GENETICS
  • 2014-12 Genomic studies in fragile X premutation carriers in JOURNAL OF NEURODEVELOPMENTAL DISORDERS
  • 2014-12 Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel in NATURE COMMUNICATIONS
  • 2014-12 De novo TBR1 mutations in sporadic autism disrupt protein functions in NATURE COMMUNICATIONS
  • 2014-12 Recurrent de novo mutations implicate novel genes underlying simplex autism risk in NATURE COMMUNICATIONS
  • 2014-11 The contribution of de novo coding mutations to autism spectrum disorder in NATURE
  • 2014-11 A comparative encyclopedia of DNA elements in the mouse genome in NATURE
  • 2014-10 Refining analyses of copy number variation identifies specific genes associated with developmental delay in NATURE GENETICS
  • 2014-09-10 Gibbon genome and the fast karyotype evolution of small apes in NATURE
  • 2014-09 Ancient human genomes suggest three ancestral populations for present-day Europeans in NATURE
  • 2014-08 The common marmoset genome provides insight into primate biology and evolution in NATURE GENETICS
  • 2014-06 Resolving genomic disorder–associated breakpoints within segmental DNA duplications using massively parallel sequencing in NATURE PROTOCOLS
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