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PubPharm (77)
1
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
enthalten in:
bioRxiv.org
| 2024
von
Lenassi, E.
|
Carvalho, A.
|
Thormann, A.
| +11
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2
Systematic reanalysis of copy number losses of uncertain clinical significance
enthalten in:
Journal of medical genetics
| 2024
von
Burghel, G.
|
Ellingford, J.
|
Wright, R.
| +6
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3
De novo
variants in the non-coding spliceosomal snRNA gene
RNU4-2
are a frequent cause of syndromic neurodevelopmental disorders
enthalten in:
bioRxiv.org
| 2024
von
Chen, Y.
|
Dawes, R.
|
Kim, H.
| +94
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4
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Chen, Y.
|
Dawes, R.
|
Kim, H.
| +94
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5
North Carolina macular dystrophy: phenotypic variability and computational analysis of disease-implicated non-coding variants
enthalten in:
bioRxiv.org
| 2023
von
Green, D.
|
Lenassi, E.
|
Manning, C.
| +5
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6
Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers
enthalten in:
Journal of medical genetics
| 2023
von
Evans, D.
|
Sithambaram, S.
|
van Veen, E.
| +13
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7
EyeG2P : an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
enthalten in:
Journal of medical genetics
| 2023
von
Lenassi, E.
|
Carvalho, A.
|
Thormann, A.
| +77
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8
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
enthalten in:
American journal of human genetics
| 2023
von
Niggl, E.
|
Bouman, A.
|
Briere, L.
| +137
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9
A SYSTEMATIC RE-ANALYSIS OF COPY NUMBER LOSSES OF UNCERTAIN CLINICAL SIGNIFICANCE
enthalten in:
bioRxiv.org
| 2023
von
Burghel, G.
|
Ellingford, J.
|
Wright, R.
| +6
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10
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies
enthalten in:
Human molecular genetics
| 2023
von
Daich Varela, M.
|
Bellingham, J.
|
Motta, F.
| +20
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Thema
43
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Research Support, Non-U.S. Gov't
6
Eye Proteins
6
genetics
5
570
5
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3
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3
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3
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3
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3
Membrane Proteins
3
Non-coding variation
3
Panel testing
3
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3
Variant interpretation
3
genomics
3
inherited retinal disease
3
inherited retinal dystrophy
2
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Erscheinungszeitraum
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2020-
26
2010-2019
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