Aachen papers per year
20
21
22
23
24
25
Papers 27
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Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing2023 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Melita Kaltak, Zelia Corradi, Rob W.J. Collin, Jim Swildens, Frans P.M. Cremers
10citations -
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content2020 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Rosa Woldegebriel, Jouni Kvist, Noora Andersson, Katrin Õunap, Karit Reinson, Monica Hsiung Wojcik, +22 more
9citations -
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance2022 Human Molecular Genetics article Medicine Cardiac electrophysiology and arrhythmias Open access
Jaël S. Copier, Marianne Bootsma, Chai‐Ann Ng, Arthur A.M. Wilde, Robin A. Bertels, Hennie Bikker, +12 more
5citations -
Determining off-target effects of splice-switching antisense oligonucleotides using short read RNAseq in neuronally differentiated human induced pluripotent stem cells2025 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Elsa C. Kuijper, Linda van der Graaf, Barry A. Pepers, Mariana Guimarães Ramos, Sylvia Korhorn, Lodewijk J.A. Toonen, +5 more
4citations -
A discrete region of the D4Z4 is sufficient to initiate epigenetic silencing2025 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Ellen M. Paatela, Danielle C. Hamm, Sean R. Bennett, Taranjit S. Gujral, Silvère M. van der Maarel, Stephen J. Tapscott
1citations
Most active Aachen authors
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Silvère M. van der Maarel 21,665 citations overall6 papers
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Arie van Haeringen 9,038 citations overall3 papers
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Richard J.L.F. Lemmers 8,875 citations overall3 papers
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J. Wouter Jukema 132,974 citations overall2 papers
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Stella Trompet 55,463 citations overall2 papers
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Marian Beekman 34,063 citations overall2 papers
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Hailiang Mei 10,927 citations overall2 papers
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Claudia A. L. Ruivenkamp 10,749 citations overall2 papers
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Emilia K. Bijlsma 5,852 citations overall2 papers
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Andreas Schuppert 3,628 citations overall2 papers
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Ronald A.M. Buijsen 1,955 citations overall2 papers
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Patrick S. Stumpf 1,466 citations overall2 papers
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Steve Eric Humphries 109,114 citations overall1 paper
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P. Eline Slagboom 86,233 citations overall1 paper
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Frits Richard Rosendaal 76,667 citations overall1 paper