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Papers per year
Papers 184
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Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands2023 European Journal of Pediatrics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Richelle A. C. M. Olde Keizer, Abderrahim Marouane, Wilhelmina S. Kerstjens‐Frederikse, A. Chantal Deden, Klaske D. Lichtenbelt, Tinneke Jonckers, +54 more
31citations -
Neuromuscular disease genetics in under-represented populations: increasing data diversity2023 Brain article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Lindsay A. Wilson, William L. Macken, Luke Perry, Christopher J. Record, Katherine R. Schon, Rodrigo Siqueira Soares Frezatti, +72 more
31citations -
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context2023 European Journal of Pediatrics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Michelle van Slobbe, Arie van Haeringen, Lisenka E.L.M. Vissers, Emilia K. Bijlsma, Julie W. Rutten, Manon Suerink, +3 more
29citations -
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature2021 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Sulagna Tina Kushary, Anya Revah‐Politi, Subit Barua, Mythily Ganapathi, Andrea Accogli, Vimla S. Aggarwal, +25 more
29citations -
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)2020 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Thomas Eggermann, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, +88 more
28citations -
HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence2020 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Christian Thomas Hübner, Robert Meyer, Asmaa Kenawy, Laima Ambrozaitytė, Aušra Matulevičienė, Florian Kraft, +3 more
27citations -
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals2023 Frontiers in Cell and Developmental Biology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C. Bramswig, +31 more
24citations -
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié‐Bitach, Kelly L. Gilmore, Christèle Dubourg, +48 more
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 -
Standardizing variant naming in literature with VariantValidator to increase diagnostic rates2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
John F. Wagstaff, Ivo F.A.C. Fokkema, Garry R. Cutting, Heidi L. Rehm, Angela C. Davies, Johan T. den Dunnen, +2 more
19citations -
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence2023 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Luisa Averdunk, Maxim A. Huetzen, Daniel Moreno-Andrés, Reinhard Kalb, Shane A McKee, Tzung‐Chien Hsieh, +25 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 -
Patient with an autosomal‐recessive MBTPS1 ‐linked phenotype and clinical features of Silver–Russell syndrome2020 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Robert Meyer, Miriam Elbracht, Thomas Opladen, Thomas Eggermann
17citations -
Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata2021 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Tarik Luisman, Tara M. Smith, Shawn A. Ritchie, Karen E. Malone
16citations -
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability2021 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Natja Haag, Ene‐Choo Tan, Matthias Begemann, Lars Buschmann, Florian Kraft, Petra Holschbach, +11 more
15citations -
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, +94 more
15citations -
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease2023 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Floranne Boulogne, Laura R. Claus, Henry H. Wiersma, Roy Oelen, Floor Schukking, Niek de Klein, +15 more
15citations -
Comparison of the ABC and ACMG systems for variant classification2024 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Gunnar Houge, Eirik Bratland, Ingvild Aukrust, Kristian Tveten, Gabrielė Žukauskaitė, Ivona Sansović, +41 more
15citations
Most active Aachen authors
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Johan T. den Dunnen 36,695 citations overall19 papers
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Ingo Kurth 13,878 citations overall17 papers
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Miriam Elbracht 3,584 citations overall16 papers
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Thomas Eggermann 17,116 citations overall14 papers
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Gijs W.E. Santen 7,222 citations overall14 papers
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Matthias Begemann 4,069 citations overall13 papers
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Florian Kraft 1,331 citations overall11 papers
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Annemieke M Aartsma-Rus 20,730 citations overall10 papers
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Marlen C. Lauffer 528 citations overall10 papers
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Alberto M. Pereira 22,314 citations overall9 papers
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Emilia K. Bijlsma 5,852 citations overall8 papers
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Robert Meyer 1,775 citations overall8 papers
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Pleuntje J. van der Sluijs 694 citations overall8 papers
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Ivo F.A.C. Fokkema 3,385 citations overall7 papers
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Jeremias Krause 2,868 citations overall7 papers