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PubPharm (198)
1
Genetic modifiers of rare variants in monogenic developmental disorder loci
enthalten in:
Nature genetics
| 2024
von
Kingdom, R.
|
Beaumont, R.
|
Wood, A.
| +2
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2
Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders
enthalten in:
Scientific reports
| 2024
von
Wigdor, E.
|
Samocha, K.
|
Eberhardt, R.
| +5
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3
Dissecting the contribution of common variants to risk of rare neurodevelopmental conditions
enthalten in:
bioRxiv.org
| 2024
von
Huang, Q.
|
Wigdor, E.
|
Campbell, P.
| +18
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4
Challenges of using whole genome sequencing in population newborn screening
enthalten in:
BMJ (Clinical research ed.)
| 2024
von
Horton, R.
|
Wright, C.
|
Firth, H.
| +4
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5
Curating genomic disease-gene relationships with Gene2Phenotype
enthalten in:
bioRxiv.org
| 2024
von
Yates, T.
|
Ansari, M.
|
Thompson, L.
| +6
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6
Penetrance and expressivity of mitochondrial variants in a large clinically unselected population
enthalten in:
Human molecular genetics
| 2024
von
Cannon, S.
|
Hall, T.
|
Hawkes, G.
| +7
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7
Population screening requires robust evidence-genomics is no exception
enthalten in:
Lancet (London, England)
| 2024
von
Turnbull, C.
|
Firth, H.
|
Wilkie, A.
| +9
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8
Primate-specific ZNF808 is essential for pancreatic development in humans
enthalten in:
Nature genetics
| 2023
von
De Franco, E.
|
Owens, N.
|
Montaser, H.
| +37
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9
Whole genome association testing in 333,100 individuals across three biobanks identifies rare non-coding single variant and genomic aggregate associations with height
enthalten in:
bioRxiv.org
| 2023
von
Hawkes, G.
|
Beaumont, R.
|
Li, Z.
| +52
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10
Whole genome sequencing analysis identifies rare, large-effect non-coding variants and regions associated with circulating protein levels
enthalten in:
bioRxiv.org
| 2023
von
Hawkes, G.
|
Chundru, K.
|
Jackson, L.
| +7
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