Topics › Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics
Genomics and Rare Diseases Sign in to save
Papers per year
Papers 184
Open in paper search →-
Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps2022 European Journal of Endocrinology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Verónica Mericq G, Isabel Huang‐Doran, Dhekra Alnaqeb, Javiera Basaure, Claudia Castiglioni T, Christiaan de Bruin, +7 more
8citations -
ACO2 clinicobiological dataset with extensive phenotype ontology annotation2021 Scientific Data data-paper Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Khadidja Guehlouz, Thomas Foulonneau, Patrizia Amati‐Bonneau, Majida Charif, Estelle Colin, Céline Bris, +9 more
8citations -
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
7citations -
Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes2021 Frontiers in Endocrinology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Birgit Weiß, Birgit Eberle, Ralph Roeth, Christiaan de Bruin, Julian C. K. Lui, Nagarajan Paramasivam, +5 more
7citations -
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools2025 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Mark Drost, Jordy Dekker, Federico Ferraro, Esmee Kasteleijn, Hannie Douben, Leontine van Unen, +42 more
7citations -
Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design2023 EClinicalMedicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Helge U. Hebestreit, Anne-Marie Lapstich, Lilly Brandstetter, Christian Krauth, Jürgen Deckert, Kirsten Haas, +83 more
6citations -
Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort study2022 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Helge U. Hebestreit, Cornelia Zeidler, Christopher Schippers, Martina de Zwaan, Jürgen Deckert, Peter Ulrich Heuschmann, +86 more
6citations -
The GENESIS database and tools: A decade of discovery in Mendelian genomics2024 Experimental Neurology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Matt Christopher Danzi, Eric H. Powell, Adriana P. Rebelo, Maike Franziska Dohrn, Danique Beijer, Sarah Fazal, +29 more
6citations -
False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance2021 Scientific Reports article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Jonas M. den Heijer, Arnoud Schmitz, Peter T. Lansbury, Valerie Cullen, Dana C. Hilt, Vincenzo Bonifati, +1 more
6citations -
Prenatal Variants of Uncertain Significance (VUS): to report or not to report?2025 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Maayke A. de Koning, Malgorzata Ilona Srebniak, Esther J. Oldekamp, Karin E. M. Diderich, Hennie T. Brüggenwirth, Gijs W.E. Santen, +2 more
6citations -
Scoping review of genetic databases for rare dermatologic diseases: Opportunity for artificial intelligence and machine learning2023 JAAD International article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Celine M. Schreidah, George Bingham Reynolds, Lauren M. Fahmy, Richard D. Carvajal, Maarten H. Vermeer, Sean J Whittaker, +2 more
6citations -
PhenoScore: AI-based phenomics to quantify rare disease and genetic variation2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia C. M. J. Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, +25 more
6citations -
Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives2022 Endocrine Connections article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Daniëlle C M van der Kaay, Anne Maria Rochtus, Gerhard Binder, Ingo Kurth, Dirk Prawitt, Irène Netchine, +4 more
5citations -
Germline landscape of RPA1, RPA2 and RPA3 variants in pediatric malignancies: identification of RPA1 as a novel cancer predisposition candidate gene2023 Frontiers in Oncology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Richa Sharma, Ninad Oak, Wenan Chen, Rose A. Gogal, Martin Kirschner, Fabian Beier, +4 more
5citations -
Complex structural variation and nonsense variant in trans cause VPS50-related disorder2024 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, J. Herwig, Eva Lausberg, Georg Hillebrand, +4 more
5citations -
Alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and overgrowth – Association with a homozygous 2bp-insertion in LTBP2?2021 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Kristina Vollbach, Sonja Trepels‐Kottek, Miriam Elbracht, Ingo Kurth, Norbert Wagner, Thorsten W Orlikowsky, +2 more
5citations -
Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
David Cheerie, Margaret M. Meserve, Danique Beijer, Charu Kaiwar, Logan Newton, Ana Lisa Taylor Tavares, +31 more
5citations -
HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders2026 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Carolina Jaramillo Oquendo, Federico Ferraro, Htoo A. Wai, Heather Ferrao, Herma van der Linde, Evita Karelioti, +11 more
5citations -
Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy2022 Genes article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Katja Eggermann, Robert Meyer, Matthias Begemann, Daniela Dey, E. Bültmann, Ingo Kurth, +2 more
4citations
Most active Aachen authors
-
Johan T. den Dunnen 36,695 citations overall19 papers
-
Ingo Kurth 13,878 citations overall17 papers
-
Miriam Elbracht 3,584 citations overall16 papers
-
Thomas Eggermann 17,116 citations overall14 papers
-
Gijs W.E. Santen 7,222 citations overall14 papers
-
Matthias Begemann 4,069 citations overall13 papers
-
Florian Kraft 1,331 citations overall11 papers
-
Annemieke M Aartsma-Rus 20,730 citations overall10 papers
-
Marlen C. Lauffer 528 citations overall10 papers
-
Alberto M. Pereira 22,314 citations overall9 papers
-
Emilia K. Bijlsma 5,852 citations overall8 papers
-
Robert Meyer 1,775 citations overall8 papers
-
Pleuntje J. van der Sluijs 694 citations overall8 papers
-
Ivo F.A.C. Fokkema 3,385 citations overall7 papers
-
Jeremias Krause 2,868 citations overall7 papers