Author: Anne Boland

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Preprints

New insights on the genetic etiology of Alzheimer and related dementia

• Downloaded 1,897 times
• Download rankings, all-time:
  • Site-wide: 7,080
  • In neurology: 12
• Year to date:
  • Site-wide: 1,304
• Since beginning of last month:
  • Site-wide: 412

Exome sequencing identifies novel AD-associated genes.

• Downloaded 902 times
• Download rankings, all-time:
  • Site-wide: 21,493
  • In genetic and genomic medicine: 57
• Year to date:
  • Site-wide: 16,292
• Since beginning of last month:
  • Site-wide: 5,317

Clonal assessment of functional mutations in cancer based on a genotype-aware method for clonal reconstruction

• Downloaded 796 times
• Download rankings, all-time:
  • Site-wide: 25,703
  • In cancer biology: 663
• Year to date:
  • Site-wide: 85,988
• Since beginning of last month:
  • Site-wide: 96,090

Both rare and common genetic variants contribute to autism in the Faroe Islands

• Downloaded 727 times
• Download rankings, all-time:
  • Site-wide: 29,171
  • In genetics: 1,469
• Year to date:
  • Site-wide: 114,973
• Since beginning of last month:
  • Site-wide: 64,713

First genome-wide association study of non-severe malaria in two birth cohorts in Benin

• Downloaded 427 times
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  • Site-wide: 56,019
  • In genetics: 2,693
• Year to date:
  • Site-wide: 75,849
• Since beginning of last month:
  • Site-wide: 78,714

Genome wide association analysis in dilated cardiomyopathy reveals two new key players in systolic heart failure on chromosome 3p25.1 and 22q11.23

• Downloaded 425 times
• Download rankings, all-time:
  • Site-wide: 56,244
  • In genomics: 4,264
• Year to date:
  • Site-wide: 20,743
• Since beginning of last month:
  • Site-wide: 28,013

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

• Downloaded 350 times
• Download rankings, all-time:
  • Site-wide: 67,812
  • In genetics: 3,216
• Year to date:
  • Site-wide: 48,226
• Since beginning of last month:
  • Site-wide: 73,112

A novel nonsense variant in SUPT20H gene associated with Rheumatoid Arthritis identified by Whole Exome Sequencing of multiplex families

• Downloaded 285 times
• Download rankings, all-time:
  • Site-wide: 79,619
  • In genomics: 5,246
• Year to date:
  • Site-wide: 65,722
• Since beginning of last month:
  • Site-wide: 117,709

Family-based genome-wide association study of leprosy in Vietnam

• Downloaded 265 times
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  • Site-wide: 83,703
  • In infectious diseases: 3,008
• Year to date:
  • Site-wide: 20,572
• Since beginning of last month:
  • Site-wide: 105,972

Chr21 protein-protein interactions: enrichment in products involved in intellectual disabilities, autism and Late Onset Alzheimer Disease

• Downloaded 233 times
• Download rankings, all-time:
  • Site-wide: 90,403
  • In neuroscience: 14,296
• Year to date:
  • Site-wide: 17,550
• Since beginning of last month:
  • Site-wide: 70,089

A novel rare c. -39C>T mutation in the PROS1 5′UTR causing PS deficiency by creating a new upstream translation initiation codon and inhibiting the production of the natural protein.

• Downloaded 127 times
• Download rankings, all-time:
  • Site-wide: 111,352
  • In genetics: 4,931
• Year to date:
  • Site-wide: 98,758
• Since beginning of last month:
  • Site-wide: 72,241

An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism.

• Downloaded 116 times
• Download rankings, all-time:
  • Site-wide: 113,464
  • In genetic and genomic medicine: 458
• Year to date:
  • Site-wide: 45,282
• Since beginning of last month:
  • Site-wide: 48,120

Evaluation of saliva as a source of accurate whole-genome and microbiome sequencing data

• Downloaded 91 times
• Download rankings, all-time:
  • Site-wide: 117,649
  • In genetics: 5,116
• Year to date:
  • Site-wide: 40,203
• Since beginning of last month:
  • Site-wide: 41,836