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1

Future of Dutch NGS-Based Newborn Screening: Exploring the ..:

Kiewiet, Gea ; Westra, Dineke ; de Boer, Eddy N....
International Journal of Neonatal Screening. 10 (2024) 1 - p. 20 , 2024

Link: https://doi.org/10.3390/..

2

Cas9-directed long-read sequencing to resolve optical genom..:

de Boer, Eddy N. ; Vroom, Vincent ; Scheper, Arjen J....
Scientific Reports. 14 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

3

Prevalence of intronic repeat expansions in RFC1 in Dutch p..:

Ghorbani, Fatemeh ; de Boer-Bergsma, Jelkje ; Verschuuren-Bemelmans, Corien C....
Journal of Neurology. 269 (2022) 11 - p. 6086-6093 , 2022

Link: https://doi.org/10.1007/..

4

Detection of Fusion Genes to Determine Minimal Residual Dis..:

de Boer, Eddy N ; Johansson, Lennart F ; de Lange, Kim...
Clinical Chemistry. 66 (2020) 8 - p. 1084-1092 , 2020

Link: https://doi.org/10.1093/..

5

Targeted RNA-Sequencing Enables Detection of Relevant Trans..:

de Lange, Kim ; de Boer, Eddy N ; Bosga, Anneke...
Clinical Chemistry. 66 (2020) 12 - p. 1521-1530 , 2020

Link: https://doi.org/10.1093/..

6

A next-generation sequencing method for gene doping detecti..:

de Boer, Eddy N. ; van der Wouden, Petra E. ; Johansson, Lennart F...
Gene Therapy. 26 (2019) 7-8 - p. 338-346 , 2019

Link: https://doi.org/10.1038/..

7

Genetic Screening Test to Detect Translocations in Acute Le..:

Sikkema-Raddatz, Birgit ; van den Berg, Eva ; Sijmons, Rolf H...
Clinical Chemistry. 64 (2018) 7 - p. 1096-1103 , 2018

Link: https://doi.org/10.1373/..

8

NIPTeR: an R package for fast and accurate trisomy predicti..:

Johansson, Lennart F. ; de Weerd, Hendrik A. ; de Boer, Eddy N....
BMC Bioinformatics. 19 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

9

GAVIN: Gene-Aware Variant INterpretation for medical sequen..:

van der Velde, K. Joeri ; de Boer, Eddy N. ; van Diemen, Cleo C....
Genome Biology. 18 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..

10

NIPTRIC: an online tool for clinical interpretation of non-..:

Sikkema-Raddatz, Birgit ; Johansson, Lennart F. ; de Boer, Eddy N....
Scientific Reports. 6 (2016) 1 - p. , 2016

Link: https://doi.org/10.1038/..

11

Copy Number Variant Analysis of Spinocerebellar Ataxia Gene..:

Ghorbani, Fatemeh ; de Boer, Eddy N ; Benjamins-Stok, Marloes...
https://research.rug.nl/en/publications/4458fc71-af99-43b6-8d73-a46444d14de3. , 2023

Link: https://hdl.handle.net/1..

12

Copy Number Variant Analysis of Spinocerebellar Ataxia Gene..:

Ghorbani, Fatemeh ; de Boer, Eddy N ; Benjamins-Stok, Marloes...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696507/. , 2023

Link: http://www.ncbi.nlm.nih...

13

Prevalence of intronic repeat expansions in RFC1 in Dutch p..:

Ghorbani, Fatemeh ; de Boer-Bergsma, Jelkje ; Verschuuren-Bemelmans, Corien C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9553829/. , 2022

Link: http://www.ncbi.nlm.nih...

14

Prevalence of intronic repeat expansions in RFC1 in Dutch p..:

Ghorbani, Fatemeh ; de Boer-Bergsma, Jelkje ; Verschuuren-Bemelmans, Corien C...
https://research.rug.nl/en/publications/f344a88f-9835-4ca8-900f-6be558741579. , 2022

Link: https://hdl.handle.net/1..

15

Detection of Fusion Genes to Determine Minimal Residual Dis..:

de Boer, Eddy N ; Johansson, Lennart F ; de Lange, Kim...
https://research.rug.nl/en/publications/414c75a9-0003-4492-965e-470b197cc4bc. , 2020

Link: https://hdl.handle.net/1..

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