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Yépez, Vicente A.
127  Ergebnisse:
Personensuche X
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1

Analysis of 3760 hematologic malignancies reveals rare tran..:

Cao, Xueqi ; Huber, Sandra ; Ahari, Ata Jadid...
Genome Medicine.  16 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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Cellular energy regulates mRNA degradation in a codon-speci..:

Tomaz da Silva, Pedro ; Zhang, Yujie ; Theodorakis, Evangelos...
Molecular Systems Biology.  20 (2024)  5 - p. 506-520 , 2024
Link: https://doi.org/10.1038/..
 
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3

O25: Bridging the neurodevelopmental diagnostic gap: A comp..:

Hon-Yin Chung, Brian ; Yee Kwong, Anna Ka ; Chun Chui, Martin Man...
Genetics in Medicine Open.  2 (2024)  - p. 101019 , 2024
Link: https://doi.org/10.1016/..
 
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4

W81. GENETICS MEETS TRANSCRIPTOMICS: EXPRESSION AND SPLICIN..:

Schulte, Eva ; Yepez, Vicente A. ; Degenhardt, Franziska...
European Neuropsychopharmacology.  75 (2023)  - p. S147 , 2023
Link: https://doi.org/10.1016/..
 
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5

Modeling fragment counts improves single-cell ATAC-seq anal..:

Martens, Laura D. ; Fischer, David S. ; Yépez, Vicente A...
Nature Methods.  21 (2023)  1 - p. 28-31 , 2023
Link: https://doi.org/10.1038/..
 
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6

Aberrant splicing prediction across human tissues:

Wagner, Nils ; Çelik, Muhammed H. ; Hölzlwimmer, Florian R....
Nature Genetics.  55 (2023)  5 - p. 861-870 , 2023
Link: https://doi.org/10.1038/..
 
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7

Improved detection of aberrant splicing with FRASER 2.0 and..:

Scheller, Ines F. ; Lutz, Karoline ; Mertes, Christian..
The American Journal of Human Genetics.  110 (2023)  12 - p. 2056-2067 , 2023
Link: https://doi.org/10.1016/..
 
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8

Clinical implementation of RNA sequencing for Mendelian dis..:

Yépez, Vicente A. ; Gusic, Mirjana ; Kopajtich, Robert...
Genome Medicine.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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9

Diagnostic potential of the amniotic fluid cells transcript..:

Lee, Mianne ; Kwong, Anna K. Y. ; Chui, Martin M. C....
npj Genomic Medicine.  7 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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10

Diagnostic Odyssey in an Adult Patient with Ophthalmologic ..:

Muñoz-Pujol, Gerard ; Alforja-Castiella, Socorro ; Casaroli-Marano, Ricardo...
International Journal of Molecular Sciences.  23 (2022)  20 - p. 12367 , 2022
Link: https://doi.org/10.3390/..
 
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11

Leigh syndrome is the main clinical characteristic of PTCD3..:

Muñoz‐Pujol, Gerard ; Ortigoza‐Escobar, Juan D. ; Paredes‐Fuentes, Abraham J....
Brain Pathology.  33 (2022)  3 - p. , 2022
Link: https://doi.org/10.1111/..
 
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12

Author Correction: Detection of aberrant splicing events in..:

Mertes, Christian ; Scheller, Ines F. ; Yépez, Vicente A....
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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13

How Machine Learning and Statistical Models Advance Molecul..:

Schlieben, Lea D. ; Prokisch, Holger ; Yépez, Vicente A.
Frontiers in Molecular Biosciences.  8 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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14

Detection of aberrant splicing events in RNA-seq data using..:

Mertes, Christian ; Scheller, Ines F. ; Yépez, Vicente A....
Nature Communications.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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15

Detection of aberrant gene expression events in RNA sequenc..:

Yépez, Vicente A. ; Mertes, Christian ; Müller, Michaela F....
Nature Protocols.  16 (2021)  2 - p. 1276-1296 , 2021
Link: https://doi.org/10.1038/..
 
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