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van der Velde, K. Joeri
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1

Ten quick tips for building FAIR workflows:

de Visser, Casper ; Johansson, Lennart F. ; Kulkarni, Purva...
PLOS Computational Biology.  19 (2023)  9 - p. e1011369 , 2023
Link: https://doi.org/10.1371/..
 
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2

A Resource for Guiding Data Stewards to Make European Rare ..:

van Damme, Philip ; Moreno, Pablo Alarcón ; Bernabé, César H....
Data Science Journal.  22 (2023)  - p. , 2023
Link: https://doi.org/10.5334/..
 
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3

FAIR Genomes metadata schema promoting Next Generation Sequ..:

van der Velde, K. Joeri ; Singh, Gurnoor ; Kaliyaperumal, Rajaram...
Scientific Data.  9 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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4

Validation of New Gene Variant Classification Methods: a Fi..:

Alimohamed, Mohamed Z. ; Westers, Helga ; Vos, Yvonne J....
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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5

Towards FAIRification of sensitive and fragmented rare dise..:

dos Santos Vieira, Bruna ; Bernabé, César H. ; Zhang, Shuxin...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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6

Semantic modelling of common data elements for rare disease..:

Kaliyaperumal, Rajaram ; Wilkinson, Mark D. ; Moreno, Pablo Alarcón...
Journal of Biomedical Semantics.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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7

Strategies in Rapid Genetic Diagnostics of Critically Ill C..:

Imafidon, Miriam E. ; Sikkema-Raddatz, Birgit ; Abbott, Kristin M....
Frontiers in Pediatrics.  9 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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8

Correction to: Solving patients with rare diseases through ..:

Matalonga, Leslie ; Hernández-Ferrer, Carles ; Piscia, Davide...
European Journal of Human Genetics.  29 (2021)  9 - p. 1466-1469 , 2021
Link: https://doi.org/10.1038/..
 
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9

Exome reanalysis and proteomic profiling identified TRIP4 a..:

Töpf, Ana ; Pyle, Angela ; Griffin, Helen...
European Journal of Human Genetics.  29 (2021)  9 - p. 1348-1353 , 2021
Link: https://doi.org/10.1038/..
 
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10

Feasibility of predicting allele specific expression from D..:

Zhang, Zhenhua ; van Dijk, Freerk ; de Klein, Niek...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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11

People's information Universe:

, In: Powers of Two,
Valentijn, Edwin A. ; Lineweaver, Charles H. ; van der Velde, K. Joeri... - p. 23-106 , 2021
Link: https://doi.org/10.1007/..
 
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12

A MT-TL1 variant identified by whole exome sequencing in an..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Matalonga, Leslie...
European Journal of Human Genetics.  29 (2021)  9 - p. 1359-1368 , 2021
Link: https://doi.org/10.1038/..
 
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13

Correction: A MT-TL1 variant identified by whole exome sequ..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Matalonga, Leslie...
European Journal of Human Genetics.  29 (2021)  9 - p. 1470-1471 , 2021
Link: https://doi.org/10.1038/..
 
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14

Solving patients with rare diseases through programmatic re..:

Matalonga, Leslie ; Hernández-Ferrer, Carles ; Piscia, Davide...
European Journal of Human Genetics.  29 (2021)  9 - p. 1337-1347 , 2021
Link: https://doi.org/10.1038/..
 
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15

A pipeline‐friendly software tool for genome diagnostics to..:

van der Velde, K. Joeri ; van den Hoek, Sander ; van Dijk, Freerk...
Advanced Genetics.  1 (2020)  1 - p. , 2020
Link: https://doi.org/10.1002/..
 
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