Not finding it? Sign in to also search OpenAlex live.
-
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 -
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders2022 Human Mutation article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Michael A. Levy, Raissa Relator, Haley McConkey, Erinija Pranckevičienė, Jennifer Kerkhof, Mouna Barat‐Houari, +85 more
77citations -
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 -
Editorial: Treatment of psychopathological and neurocognitive disorders in genetic syndromes: In need of multidisciplinary phenotyping and treatment design2022 Frontiers in Psychiatry editorial Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
J.I.M. Egger, Kate Anne Woodcock, Lot D. de Witte, Marianne B. M. van den Bree, Linde C. M. van Dongen, Ellen Wingbermühle, +1 more
2citations -
Familial risk for depressive and anxiety disorders: associations with genetic, clinical, and psychosocial vulnerabilities2020 Psychological Medicine article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Eleonore D. van Sprang, Dominique F. Maciejewski, Yuri Milaneschi, Bernet M. Elzinga, Aartjan T.F. Beekman, Catharina Annette Hartman, +2 more
44citations -
Impact of Genetic Variants Associated with Neurodevelopmental Disorders on the WAVE Regulatory Complex2025 Journal of Chemical Information and Modeling article Biochemistry, Genetics and Molecular Biology Protein Structure and Dynamics Open access
Song Xie, Ke Zuo, Silvia De Rubeis, Giorgio Bonollo, Giorgio Colombo, Paolo Ruggerone, +1 more
3citations -
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 -
Genetic variant in the BRAF gene compatible with Noonan spectrum disorders in an adult Fontan patient with refractory protein losing enteropathy: a follow-up report2023 European Heart Journal - Case Reports article Medicine Congenital Heart Disease Studies Open access
Marieke Nederend, J. Lauran Stöger, Anastasia D. Egorova, Daniela Q.C.M. Barge‐Schaapveld, Monique R.M. Jongbloed
1citations -
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 -
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 review 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 -
Desmopressin Response in Children With Platelet Disorders May Depend on the Presence of a Genetic Cause When Response Is Measured With Von Willebrand Activity and Platelet Function Analyser
Elise J. Huisman, Alexander Janßen, Leo M. van de Watering, Marieke J. H. A. Kruip, Masja de Haas, Marjon H. Cnossen
0citations -
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway2022 Journal of Inherited Metabolic Disease article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Saikat Santra, +29 more
13citations -
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 -
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 -
Genetic architecture of externalizing and internalizing traits in the general population and its link to psychiatric conditions and well-being: a multivariate approach2026 European Neuropsychopharmacology article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Barbara Šakić, Marieke Klein, Nina Roth Mota, Vera Goossens, Hilleke E. Hulshoff Pol, Mark de Rooij, +2 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 -
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 -
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