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PubPharm (38)
1
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
enthalten in:
Human genomics
| 2024
von
Stenton, S.
|
O’Leary, M.
|
Lemire, G.
| +71
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2
Advancing Understanding of Inequities in Rare Disease Genomics
enthalten in:
bioRxiv.org
| 2024
von
Serrano, J.
|
O’Leary, M.
|
VanNoy, G.
| +5
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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
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
enthalten in:
Human genetics
| 2024
von
Brooks, D.
|
Burke, E.
|
Lee, S.
| +20
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6
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
enthalten in:
Annals of clinical and translational neurology
| 2024
von
Donkervoort, S.
|
Mohassel, P.
|
O'Leary, M.
| +121
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7
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
enthalten in:
American journal of human genetics
| 2024
von
Pérez Baca, M.
|
Jacobs, E.
|
Vantomme, L.
| +109
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8
Neurodevelopmental disorders associated variants in
ADAT3
disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration
enthalten in:
bioRxiv.org
| 2024
von
Del-Pozo-Rodriguez, J.
|
Tilly, P.
|
Lecat, R.
| +28
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9
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Del-Pozo-Rodriguez, J.
|
Tilly, P.
|
Lecat, R.
| +28
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10
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
enthalten in:
Human genetics
| 2024
von
Brooks, D.
|
Burke, E.
|
Lee, S.
| +19
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11
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11
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8
570
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8
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3
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Variant prioritization
1
11003-00-2
1
143258-00-8
1
9068-80-8
1
ACTN2 protein, human
1
ARID1A
1
ARID1B BAFopathy
1
ATP5F1A protein, human
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Erscheinungszeitraum
36
2020-
2
2010-2019
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Sprache
35
Englisch
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