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Author: James R. Lupski

Rankings

  • All-time downloads: 7,865 (rank: 33,608 (tie) )
  • Categories:
    • genetic and genomic medicine: 1,606 (rank: 2,916 (tie) )
    • genetics: 3,815 (rank: 5,051 (tie) )
    • genomics: 418 (rank: 43,950 (tie) )
    • immunology: 2,026 (rank: 6,866 (tie) )

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Preprints

Phenotypic expansion in DDX3X — a common cause of intellectual disability in females

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    • Site-wide: 26,053
    • In genetics: 1,140
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    • Site-wide: 146,295
  • Since beginning of last month:
    • Site-wide: 151,134

Genetic immunodeficiency and autoimmune disease reveal distinct roles of Hem1 in the WAVE2 and mTORC2 complexes

immunology more details view paper
  • Downloaded 1,060 times
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    • Site-wide: 26,275
    • In immunology: 894
  • Year to date:
    • Site-wide: 47,125
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    • Site-wide: 70,582

Human NK cell deficiency as a result of biallelic mutations in MCM10

immunology more details view paper
  • Downloaded 966 times
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    • Site-wide: 30,123
    • In immunology: 1,012
  • Year to date:
    • Site-wide: 60,183
  • Since beginning of last month:
    • Site-wide: 125,425

Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism

genetics more details view paper
  • Downloaded 897 times
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    • Site-wide: 33,586
    • In genetics: 1,465
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    • Site-wide: 116,174
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    • Site-wide: 57,930

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

genetics more details view paper
  • Downloaded 482 times
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    • Site-wide: 76,373
    • In genetics: 3,245
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    • Site-wide: 17,077
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Functional modeling of NMIHBA-causing PRUNE1 variants reveals a requirement for its exopolyphosphatase activity

genetics more details view paper
  • Downloaded 475 times
  • Download rankings, all-time:
    • Site-wide: 77,623
    • In genetics: 3,285
  • Year to date:
    • Site-wide: 74,955
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    • Site-wide: 74,885

Sequencing individual genomes with recurrent deletions reveals allelic architecture and disease loci for autosomal recessive traits

genetic and genomic medicine more details view paper
  • Downloaded 458 times
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    • Site-wide: 80,669
    • In genetic and genomic medicine: 395
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Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability

genetic and genomic medicine more details view paper
  • Downloaded 419 times
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    • Site-wide: 88,445
    • In genetic and genomic medicine: 448
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    • Site-wide: 72,289

De novo mutation in ancestral generations evolves haplotypes contributing to disease

genomics more details view paper
  • Downloaded 418 times
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    • Site-wide: 88,717
    • In genomics: 5,635
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Integrated Sequencing & Array Comparative Genomic Hybridization in Familial Parkinson's Disease

genetics more details view paper
  • Downloaded 359 times
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    • Site-wide: 102,039
    • In genetics: 4,205
  • Year to date:
    • Site-wide: 118,951
  • Since beginning of last month:
    • Site-wide: 127,579

Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

genetic and genomic medicine more details view paper
  • Downloaded 319 times
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    • Site-wide: 111,932
    • In genetic and genomic medicine: 618
  • Year to date:
    • Site-wide: 31,809
  • Since beginning of last month:
    • Site-wide: 53,882

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

genetics more details view paper
  • Downloaded 310 times
  • Download rankings, all-time:
    • Site-wide: 114,306
    • In genetics: 4,656
  • Year to date:
    • Site-wide: 136,009
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    • Site-wide: 147,241

Centers for Mendelian Genomics: A decade of facilitating gene discovery

genetic and genomic medicine more details view paper
  • Downloaded 258 times
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    • Site-wide: 127,971
    • In genetic and genomic medicine: 738
  • Year to date:
    • Site-wide: 42,532
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    • Site-wide: 18,162

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

genetics more details view paper
  • Downloaded 226 times
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    • Site-wide: 136,245
    • In genetics: 5,418
  • Year to date:
    • Site-wide: 94,797
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    • Site-wide: 92,160

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

genetic and genomic medicine more details view paper
  • Downloaded 152 times
  • Download rankings, all-time:
    • Site-wide: 152,988
    • In genetic and genomic medicine: 959
  • Year to date:
    • Site-wide: 79,696
  • Since beginning of last month:
    • Site-wide: 128,836

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