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 →-
Functional characterization of two DYRK1B variants causative of AOMS32024 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Silvia Detro‐Dassen, Anna R. Sternberg, Katharina Schwandt, Stefan Düsterhöft, Walter B. Becker
2citations -
Quality assurance within the context of genome diagnostics (a german perspective)2023 Medizinische Genetik article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Florian Kraft, Anna Benet‐Pagès, Sebastian H. Eck, Norbert Arnold, Peter Bauer, Matthias Begemann, +4 more
2citations -
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Shiva Ganesan, Sarah McKeown Ruggiero, Shridhar Parthasarathy, Peter D. Galer, David J. Lewis-Smith, Ian McSalley, +10 more
2citations -
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies2025 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Emily E. Lubin, Elizabeth M. Gonzalez, Annabel K. Sangree, Emily L. Durham, Hannah Klinkhammer, Jingmei Li, +22 more
2citations -
Hope, but never expect? Comparing parents' pre‐ and post‐disclosure attitudes toward return of results from diagnostic exome sequencing for their child2024 Molecular Genetics & Genomic Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Candice Cornelis, Aad Tibben, Eva H. Brilstra, Ineke L L E Bolt, Marieke van Summeren, Nine Knoers, +1 more
2citations -
Biallelic CRELD1 variants cause severe muscle weakness and infantile epilepsy2025 Brain Communications article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Manuela D’Alessandro, Daniel Bamborschke, Margret Helene Bülow, Özkan Özdemir, Hülya‐Sevcan Daimagüler, Verena Brümmer, +8 more
1citations -
Genetische Diagnostik bei Kindern und Jugendlichen mit psychischen Störungen2025 Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Franziska Degenhardt, Eva Wohlleber, Ingo Spitczok von Brisinski, Benedikt Godo, Franziska Radtke, Christine Margarete Freitag, +6 more
1citations -
Targeted VNTR long read sequencing resolves a diagnostic bottleneck in ADTKD and detects de novo ADTKD-MUC12026 Kidney International article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Andrea Wenzel, Björn Reusch, Karl Xaver Knaup, Nikola Zagorec, Margareta Fištrek Prlić, Kerstin Becker, +8 more
1citations -
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon2022 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Helle Høyer, Hilde Tveitan Hilmarsen, Raute Sunder‐Plaßmann, Geir J. Braathen, Peter Munch Andersen, Christian Beetz, +10 more
1citations -
Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants2024 Neurogenetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Lena Sagi‐Dain, Annemieke M Aartsma-Rus, Moran Echar, Julia Grinshpun‐Cohen, Amihood Singer
1citations -
Significance of incidental copy number variants in the Duchenne muscular dystrophy gene2025 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Ieke B. Ginjaar, Marjolein Kriek, Mariette J. V. Hoffer, Renske Oegema, Ellen van Binsbergen, Karin E. M. Diderich, +7 more
1citations -
Key Outcomes from a Stakeholder Workshop on Genomic Newborn Screening: Recommended Next Steps for the Integration of Genomics into Public Health Programs2026 Public Health Genomics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Saskia G. Smits, Annelotte J. Duintjer, Hermine A. van Duyvenvoorde, Wendy Rodenburg, Mirjam van der Burg, Lidewij Henneman, +1 more
1citations -
Functional evidence (II) protein and enzyme function2021 Elsevier eBooks book-chapter Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Álvaro N.A. Monteiro, Thales C. Nepomuceno, Niels de Wind, Vanessa Camara Fernandes, Anna Beatriz Ribeiro Elias, Marcelo Alex Carvalho
1citations -
SUN-070 European Registries for Rare Endocrine Conditions (EuRRECa): Results from the Platform for E-reporting of Rare Endocrine Conditions (e-REC)2020 Journal of the Endocrine Society article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Salma Ali, Jillian Bryce, Martine Cools, Thomas Danne, Mehul Dattani, Olaf M. Dekkers, +13 more
1citations
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