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Author: Michael E. Talkowski

Rankings

  • All-time downloads: 57,678 (rank: 677 out of 404,161)
  • Categories:
    • bioengineering: 140 (rank: 10,502 (tie) out of 12,052)
    • bioinformatics: 2,979 (rank: 3,595 out of 34,272)
    • genetics: 9,937 (rank: 1,379 out of 36,792)
    • genomics: 43,213 (rank: 150 out of 42,763)
    • neuroscience: 1,409 (rank: 11,928 (tie) out of 67,824)

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Preprints

The mutational constraint spectrum quantified from variation in 141,456 humans

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An open resource of structural variation for medical and population genetics

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Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

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Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families

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Mapping And Phasing Of Structural Variation In Patient Genomes Using Nanopore Sequencing

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CNView: a visualization and annotation tool for copy number variation from whole-genome sequencing

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Indexcov: fast coverage quality control for whole-genome sequencing

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Whole-genome and RNA sequencing reveal variation and transcriptomic coordination in the developing human prefrontal cortex

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Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

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Functional annotation of rare structural variation in the human brain

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Structural disruption of genomic regions containing ultraconserved elements is associated with neurodevelopmental phenotypes

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A deep learning approach to identify new gene targets of a novel therapeutic for human splicing disorders

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SYCP2 translocation-mediated dysregulation and frameshift variants cause human male infertility

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Expectations and blind spots for structural variation detection from short-read alignment and long-read assembly

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Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

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Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders

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CHD8 Suppression Impacts on Histone H3 Lysine 36 Trimethylation and Alters RNA Alternative Splicing.

genetics more details view paper
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Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries

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