Author: Henry Houlden

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Preprints

G2P: Using machine learning to understand and predict genes causing rare neurological disorders

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A genome-wide genetic pleiotropy approach identified shared loci between multiple system atrophy and inflammatory bowel disease

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Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at Chr16q11.2 and on the MAPT H1 allele.

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  • Site-wide: 23,877
  • In neuroscience: 3,167
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Mitochondrial impairment and rescue in riboflavin responsive neuropathy

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  • In neuroscience: 3,892
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Whole genome sequencing for diagnosis of neurological repeat expansion disorders

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  • In genomics: 2,946
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DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation

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  • In genomics: 3,724
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Mutations In Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands Of Dendritic Growth And Synaptic Integrity

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  • In neuroscience: 7,066
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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases

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Human-lineage-specific genomic elements: relevance to neurodegenerative disease and APOE transcript usage

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  • Site-wide: 68,663
  • In neuroscience: 10,525
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Genetic variants for head size share genes and pathways with cancer

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Human patient SFPQ homozygous mutation is found deleterious for brain and motor development in a zebrafish model

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  • In neuroscience: 14,592
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Integrating protein networks and machine learning for disease stratification in the Hereditary Spastic Paraplegias

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  • Site-wide: 98,688
  • In systems biology: 2,323
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Biallelic mutation of CLRN2 causes non-syndromic hearing loss in humans

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  • In genetics: 4,517
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Leucine Rich Repeat Kinase 2 (LRRK2) Gly2019Ser Mutation Is Absent In A Second Cohort Of Nigerian Africans With Parkinson Disease.

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  • In genetics: 4,570
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Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability

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  • Site-wide: 103,324
  • In genetic and genomic medicine: 409
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Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

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  • Site-wide: 111,000
  • In genetics: 4,885
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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

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  • In genetics: 5,163
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