Author: Alexander Hoischen

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Preprints

Next generation cytogenetics: comprehensive assessment of 48 leukemia genomes by genome imaging

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  • Site-wide: 5,956
  • In genomics: 670
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  • Site-wide: 3,113
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  • Site-wide: 3,489

Next generation cytogenetics: genome-imaging enables comprehensive structural variant detection for 100 constitutional chromosomal aberrations in 85 samples

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  • Site-wide: 10,657
  • In genetics: 516
• Year to date:
  • Site-wide: 2,854
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  • Site-wide: 3,758

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

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  • Site-wide: 15,306
  • In genetics: 756
• Year to date:
  • Site-wide: 9,684
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Host genome analysis of structural variations by Optical Genome Mapping provides clinically valuable insights into genes implicated in critical immune, viral infection, and viral replication pathways in patients with severe COVID-19.

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  • Site-wide: 24,210
  • In infectious diseases: 1,847
• Year to date:
  • Site-wide: 1,317
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  • Site-wide: 11,675

Next-generation sequencing identifies novel gene variants and pathways involved in specific language impairment

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  • Site-wide: 25,085
  • In genetics: 1,207
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  • Site-wide: 54,602

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology

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  • Site-wide: 47,108
  • In cell biology: 2,011
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  • Site-wide: 33,549
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  • Site-wide: 44,519

Impact of rare and common genetic variation in the Interleukin-1 pathway for human cytokine responses

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  • Site-wide: 51,385
  • In systems biology: 1,202
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  • Site-wide: 38,350
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  • Site-wide: 56,992

Clinical validation of Whole Genome Sequencing for cancer diagnostics

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  • Site-wide: 54,505
  • In genetic and genomic medicine: 180
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  • Site-wide: 7,532
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  • Site-wide: 6,110

Whole-Exome sequencing identifies a Type 2 Diabetes candidate mutation in PTPRF

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  • Site-wide: 94,471
  • In endocrinology: 67
• Year to date:
  • Site-wide: 23,513
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  • Site-wide: 26,912

Genetic screening for TLR7 variants in young and previously healthy men with severe COVID-19: a case series

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  • Site-wide: 111,424
  • In allergy and immunology: 132
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