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Cummings, Beryl B.
427  Ergebnisse:
Personensuche X
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1

Digenic inheritance involving a muscle-specific protein kin..:

Töpf, Ana ; Cox, Dan ; Zaharieva, Irina T....
Nature Genetics.  56 (2024)  3 - p. 395-407 , 2024
Link: https://doi.org/10.1038/..
 
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2

Transcriptome variation in human tissues revealed by long-r..:

Glinos, Dafni A. ; Garborcauskas, Garrett ; Hoffman, Paul...
Nature.  608 (2022)  7922 - p. 353-359 , 2022
Link: https://doi.org/10.1038/..
 
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3

TDP-43 represses cryptic exon inclusion in the FTD–ALS gene..:

Ma, X. Rosa ; Prudencio, Mercedes ; Koike, Yuka...
Nature.  603 (2022)  7899 - p. 124-130 , 2022
Link: https://doi.org/10.1038/..
 
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4

Author Correction: Evaluating drug targets through human lo..:

Genome Aggregation Database Production Team ; Minikel, Eric Vallabh ; Karczewski, Konrad J....
Nature.  590 (2021)  7846 - p. E56-E56 , 2021
Link: https://doi.org/10.1038/..
 
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5

Author Correction: The mutational constraint spectrum quant..:

Genome Aggregation Database Consortium ; Karczewski, Konrad J. ; Francioli, Laurent C....
Nature.  590 (2021)  7846 - p. E53-E53 , 2021
Link: https://doi.org/10.1038/..
 
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6

Author Correction: Landscape of multi-nucleotide variants i..:

Wang, Qingbo ; Pierce-Hoffman, Emma ; Cummings, Beryl B....
Nature Communications.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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7

Addendum: The mutational constraint spectrum quantified fro..:

Gudmundsson, Sanna ; Karczewski, Konrad J. ; Francioli, Laurent C....
Nature.  597 (2021)  7874 - p. E3-E4 , 2021
Link: https://doi.org/10.1038/..
 
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8

BET1variants establish impaired vesicular transport as a ca..:

Donkervoort, Sandra ; Krause, Niklas ; Dergai, Mykola...
EMBO Molecular Medicine.  13 (2021)  12 - p. , 2021
Link: https://doi.org/10.15252..
 
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9

Author Correction: The effect of LRRK2 loss-of-function var..:

Genome Aggregation Database Production Team ; Whiffin, Nicola ; Armean, Irina M....
Nature Medicine.  27 (2021)  2 - p. 355-355 , 2021
Link: https://doi.org/10.1038/..
 
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10

Author Correction: Transcript expression-aware annotation i..:

Genome Aggregation Database Production Team ; Cummings, Beryl B. ; Karczewski, Konrad J....
Nature.  590 (2021)  7846 - p. E54-E54 , 2021
Link: https://doi.org/10.1038/..
 
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11

Evaluating drug targets through human loss-of-function gene..:

Minikel, Eric Vallabh ; Karczewski, Konrad J. ; Martin, Hilary C....
Nature.  581 (2020)  7809 - p. 459-464 , 2020
Link: https://doi.org/10.1038/..
 
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12

Landscape of multi-nucleotide variants in 125,748 human exo..:

Wang, Qingbo ; Pierce-Hoffman, Emma ; Cummings, Beryl B....
Nature Communications.  11 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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13

The mutational constraint spectrum quantified from variatio..:

Karczewski, Konrad J. ; Francioli, Laurent C. ; Tiao, Grace...
Nature.  581 (2020)  7809 - p. 434-443 , 2020
Link: https://doi.org/10.1038/..
 
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14

Pathogenic deep intronic MTM1 variant activates a pseudo-ex..:

Bryen, Samantha J. ; Oates, Emily C. ; Evesson, Frances J....
European Journal of Human Genetics.  29 (2020)  1 - p. 61-66 , 2020
Link: https://doi.org/10.1038/..
 
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15

The effect of LRRK2 loss-of-function variants in humans:

Whiffin, Nicola ; Armean, Irina M. ; Kleinman, Aaron...
Nature Medicine.  26 (2020)  6 - p. 869-877 , 2020
Link: https://doi.org/10.1038/..
 
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