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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 -
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 -
Exploring Parents' Values in Healthcare Decision‐Making for Rare Genetic Neurodevelopmental Disorders: A Qualitative Study to Inform Guideline Development2026 Journal of Intellectual Disability Research article Medicine Ethics and Legal Issues in Pediatric Healthcare Open access
Mirthe J Klein Haneveld, Louise Cox, P.J.C.M. Embregts, Alistair R. Niemeijer, Martina Cornelia Cornel, Charlotte M. W. Gaasterland, +1 more
0citations -
Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study2024 Research and Practice in Thrombosis and Haemostasis article Medicine Hemophilia Treatment and Research Open access
Sterre P E Willems, Annet Simons, Joline L. Saes, Marjan M. Weiss, Sanna R. Rijpma, Selene Schoormans, +10 more
11citations -
Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development2026 Journal of Intellectual Disability Research article Medicine Down syndrome and intellectual disability research Open access
Mirthe J Klein Haneveld, Louise Cox, P.J.C.M. Embregts, Alistair R. Niemeijer, Martina Cornelia Cornel, Charlotte M. W. Gaasterland, +1 more
2citations -
PB0203 Altered Bleeding Phenotype in Patients with Co-inheritance of Genetic Variants in Thrombosis and Hemostases Genes in Rare Bleeding Disorders2023 Research and Practice in Thrombosis and Haemostasis conference-abstract Medicine Blood properties and coagulation Open access
Sara M. Willems, A. Simons, Joline L. Saes, Marjon H. Cnossen, Ilmar C. Kruis, Karina Meijer, +6 more
0citations -
P171: Developing an approach to screening rare genetic diagnoses for amenability to bespoke genetic therapy development2024 Genetics in Medicine Open article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
David Cheerie, Marlen C. Lauffer, Danique Beijer, Matthis Synofzik, Annemieke M Aartsma-Rus, Michael J. Szego, +4 more
0citations -
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases2023 Nature article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access cited by 1 patent
Martin A. Mensah, Henri Niskanen, Alexandre Papadopoulos Magalhães, Shaon Basu, Martin Kircher, Henrike L. Sczakiel, +34 more
168citations -
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 -
Finding Suitable Clinical Endpoints for a Potential Treatment of a Rare Genetic Disease: the Case of ARID1B2020 Neurotherapeutics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Matthijs D. Kruizinga, Rob G. J. A. Zuiker, Elif Sali, Marieke L. de Kam, Robert Jan Doll, Geert Jan Groeneveld, +2 more
13citations -
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework2023 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 1 patent
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia C. M. J. Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, +27 more
82citations -
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, +93 more
56citations -
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study2025 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
David Cheerie, Marlen C. Lauffer, Logan Newton, Kimberly Amburgey, Danique Beijer, Bushra Haque, +16 more
6citations -
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development2024 EBioMedicine article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Chrysanthi Kouri, Grit Sommer, Idoia Martinez de la Piscina, Rawda Naamneh Elzenaty, Lloyd J. W. Tack, Martine Cools, +67 more
42citations -
Consensus framework to assess eligibility of genes and hereditary diseases for genetic therapy development2026 Zenodo (CERN European Organization for Nuclear Research) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Emilio Dirk Raymond Oriole Harris-Mostert, Annelot C. M. van Esbroeck, David Cheerie, Kai Lee Yap, Christiana Wang, Rosan L. Lechner, +30 more
0citations -
Consensus framework to assess eligibility of genes and hereditary diseases for genetic therapy development2026 Zenodo (CERN European Organization for Nuclear Research) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Emilio Dirk Raymond Oriole Harris-Mostert, Annelot C. M. van Esbroeck, David Cheerie, Kai Lee Yap, Christiana Wang, Rosan L. Lechner, +30 more
0citations -
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings2025 Nature Genetics erratum Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, +93 more
0citations -
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