Aachen papers per year
Papers 20
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Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders2022 Human Mutation article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Michael A. Levy, Raissa Relator, Haley McConkey, Erinija Pranckevičienė, Jennifer Kerkhof, Mouna Barat‐Houari, +85 more
84citations -
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases2022 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvò, Carles García, Marcos Fernández-Callejo, +44 more
64citations -
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Petros Kountouris, Coralea Stephanou, Carsten Werner Lederer, Joanne Traeger‐Synodinos, Celeste Bento, Cornelis L. Harteveld, +8 more
41citations -
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Manon H. C. A Peeters, Mubeen Khan, Anoek A. M. B Rooijakkers, Timo W. F. Mulders, Lonneke Haer‐Wigman, Camiel J. F. Boon, +7 more
40citations -
Quantification of DNA methylation independent of sodium bisulfite conversion using methylation‐sensitive restriction enzymes and digital PCR2020 Human Mutation article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Rogier J. Nell, Debby van Steenderen, Nino V. Menger, Thomas J. Weitering, Mieke Versluis, Pieter A. van der Velden
22citations -
NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Benjamin Billiet, Patrizia Amati‐Bonneau, Valérie Desquiret‐Dumas, Khadidja Guehlouz, Dan Miléa, Philippe Gohier, +5 more
20citations -
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC2020 Human Mutation article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Heike Kölbel, Andreas Roos, Peter F. M. van der Ven, Teresinha Evangelista, Kay Wilhelm Nolte, Katherine Johnson, +9 more
18citations -
Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes2023 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Maria Sáez González, Kes Kloosterhuis, Laura A. van de Pol, Frank F. Baas, Harald M. M. Mikkers
18citations -
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach2022 Human Mutation article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Mads Thomassen, Romy L.S. Mesman, Thomas van Overeem Hansen, Mireia Menéndez, Maria Rossing, Ada Esteban‐Sánchez, +43 more
10citations -
Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments2024 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Bianca Zardetto, Marlen C. Lauffer, Willeke van Roon‐Mom, Annemieke M Aartsma-Rus, on behalf of the N Collaborative
8citations -
A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA22023 Human Mutation article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Maria Zanti, Denise G O'Mahony, Michael T. Parsons, Hongyan Li, Joe Dennis, Kristiina Aittomäkkiki, +93 more
8citations -
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments2024 Human Mutation article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Bianca Zardetto, Willeke van Roon‐Mom, Annemieke M Aartsma-Rus, Marlen C. Lauffer
3citations
20 results
Most active Aachen authors
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Johan T. den Dunnen 36,695 citations overall4 papers
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Frank F. Baas 36,181 citations overall2 papers
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Annemieke M Aartsma-Rus 20,730 citations overall2 papers
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Willeke van Roon‐Mom 7,335 citations overall2 papers
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Gijs W.E. Santen 7,222 citations overall2 papers
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Marlen C. Lauffer 528 citations overall2 papers
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Bianca Zardetto 43 citations overall2 papers
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Peter Devilee 60,996 citations overall1 paper
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Marjanka K. Schmidt 33,782 citations overall1 paper
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Joachim Weis 23,101 citations overall1 paper
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Camiel J. F. Boon 13,468 citations overall1 paper
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Pieter A. van der Velden 9,198 citations overall1 paper
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Maaike P.G. Vreeswijk 6,405 citations overall1 paper
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Niels de Wind 6,046 citations overall1 paper
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Cornelis L. Harteveld 4,630 citations overall1 paper