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Papers per year
Papers 184
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Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies2022 eLife article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Stella Tamana, Maria Xenophontos, Anna Minaidou, Coralea Stephanou, Cornelis L. Harteveld, Celeste Bento, +10 more
15citations -
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies2022 American Journal of Medical Genetics Part C Seminars in Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Jerry E. Vockley, Annemieke M Aartsma-Rus, Jennifer L. Cohen, Lex M. Cowsert, R. Rodney Howell, Timothy W. Yu, +2 more
14citations -
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals2024 Nature Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Alexander J.M. Dingemans, Sandra Jansen, Jeroen van Reeuwijk, Nicole de Leeuw, Rolph Pfundt, Janneke H. M. Schuurs-Hoeijmakers, +12 more
14citations -
Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin2024 Nephrology Dialysis Transplantation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Amber de Haan, Mark Eijgelsheim, Liffert Vogt, Ewout Jasper Hoorn, Joris I. Rotmans, Gijs Fortrie, +13 more
13citations -
ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions2024 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Lorena Casareto, Natasha M. Appelman‐Dijkstra, Maria Luisa Brandi, Roland D Chapurlat, Valérie Cormier‐Daire, Neveen A. T. Hamdy, +8 more
13citations -
Similar burden of pathogenic coding variants in exceptionally long‐lived individuals and individuals without exceptional longevity2020 Aging Cell article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 1 patent
Danielle Gutman, Gabriel Arie Lidzbarsky, Sofiya Milman, Tina Gao, Patrick Sin‐Chan, Claudia G. Gonzaga-Jauregui, +4 more
13citations -
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria2021 Genes article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Pleuntje J. van der Sluijs, Marielle M. Alders, Alexander J.M. Dingemans, Kareesma Parbhoo, Bregje W.M. van Bon, Jennifer C. Dempsey, +17 more
12citations -
Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD)2021 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Ana Gonçalves, Ana María Fortuna, Yavuz Ariyürek, Márcia E. Oliveira, Goreti Nadais, Jorge Pinheiro, +4 more
12citations -
International guideline on genetic testing of children with short stature2026 European Journal of Endocrinology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Andrew Dauber, Alexander A.L. Jorge, Ola Nilsson, Olaf M. Dekkers, Jesús Argente, Irène Netchine, +28 more
11citations -
Educational and knowledge gaps within the European reference network on rare endocrine conditions2020 Endocrine Connections article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Violeta Iotova, Camilla Schalin‐Jäntti, Petra Bruegmann, Manuela Broesamle, Nataša Bratina, Vallo Tillmann, +2 more
11citations -
Lessons learned from the first national population-based genetic carrier-screening program for Duchenne muscular dystrophy2023 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Amihood Singer, Annemieke M Aartsma-Rus, Julia Grinshpun‐Cohen, Lena Sagi‐Dain
11citations -
Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study2020 PLoS ONE article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Borut Peterlin, Francesca Gualandi, Aleš Maver, Serenella Servidei, Silvère M. van der Maarel, Alexandre Méjat, +2 more
11citations -
Analysis of laboratory reporting practices using a quality assessment of a virtual patient2020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Danya F. Vears, Martin Elferink, Marjolein Kriek, Pascal Borry, Koen L.I. van Gassen
10citations -
Diagnostic yield of genetic testing in children with short stature: a systematic review2026 European Journal of Endocrinology review Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Renata C. Scalco, Jan W. Schoones, Despoina M. Galetaki, Ana Maria Santillan‐Vasconez, Gabriela J. Kim, Laurana de Polli Cellin, +8 more
9citations -
European Reference Networks – a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 20252026 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Holm Graeßner, Sophie Ripp, Alberto M. Pereira, Franz S. Schaefer, Irene M.J. Mathijssen, Jean‐Yves Blay, +21 more
9citations -
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making2025 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Daphne J. Smits, Federico Ferraro, Mark Drost, Herma C. van der Linde, Bianca M. de Graaf, Yolande van Bever, +37 more
9citations -
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia2023 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Nadra Nasser Samra, Nicolette S. Jansen, Ilham Morani, Reli Rachel Kakun, Rinat Zaid, Tamar Paperna, +14 more
8citations
Most active Aachen authors
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Johan T. den Dunnen 36,695 citations overall19 papers
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