Hypothesis: determining phenotypic specificity facilitates understanding of pathophysiology in rare genetic disorders

von Haijes, Hanneke A., Jaeken, Jaak, van Hasselt, Peter M.
Veröffentlicht in J Inherit Metab Dis (2020)

Assessing the Pre-Analytical Stability of Small-Molecule Metabolites in Cerebrospinal Fluid Using Direct-Infusion Metabolomics

von Haijes, Hanneke A., Willemse, Eline A.J., Gerrits, Johan, van der Flier, Wiesje M., Teunissen, Charlotte E., Verhoeven-Duif, Nanda M., Jans, Judith J.M.
Veröffentlicht in Metabolites (2019)

Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

von Veldman, Bram C. F., Kuper, Willemijn F. E., Lilien, Marc, Schuurs‐Hoeijmakers, Janneke H. M., Marcelis, Carlo, Phan, Milan, Hettinga, Ymkje, Talsma, Herman E., van Hasselt, Peter M., Haijes, Hanneke A.
Veröffentlicht in Am J Med Genet A (2021)

Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm

von Haijes, Hanneke A., van der Ham, Maria, Prinsen, Hubertus C.M.T., Broeks, Melissa H., van Hasselt, Peter M., de Sain-van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., Jans, Judith J.M.
Veröffentlicht in Int J Mol Sci (2020)

Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients’ Dried Blood Spots and Plasma

von Haijes, Hanneke A., Willemsen, Marcel, van der Ham, Maria, Gerrits, Johan, Pras-Raves, Mia L., Prinsen, Hubertus C. M. T., van Hasselt, Peter M., de Sain-van der Velden, Monique G. M., Verhoeven-Duif, Nanda M., Jans, Judith J. M.
Veröffentlicht in Metabolites (2019)

Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics

von Kerkhofs, Marten H. P. M., Haijes, Hanneke A., Willemsen, A. Marcel, van Gassen, Koen L. I., van der Ham, Maria, Gerrits, Johan, de Sain-van der Velden, Monique G. M., Prinsen, Hubertus C. M. T., van Deutekom, Hanneke W. M., van Hasselt, Peter M., Verhoeven-Duif, Nanda M., Jans, Judith J. M.
Veröffentlicht in Metabolites (2020)

Retrospective evaluation of the Dutch pre‐newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screen...

von Haijes, Hanneke A., Molema, Femke, Langeveld, Mirjam, Janssen, Mirian C., Bosch, Annet M., van Spronsen, Francjan, Mulder, Margot F., Verhoeven‐Duif, Nanda M., Jans, Judith J.M., van der Ploeg, Ans T., Wagenmakers, Margreet A., Rubio‐Gozalbo, M. Estela, Brouwers, Martijn C. G. J., de Vries, Maaike C., Langendonk, Janneke G., Williams, Monique, van Hasselt, Peter M.
Veröffentlicht in J Inherit Metab Dis (2019)

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

von Haijes, Hanneke A., Koster, Maria J.E., Rehmann, Holger, Li, Dong, Hakonarson, Hakon, Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G. Bradley, Lehman, Anna, van de Laar, Ingrid M.B.H., Tesselaar, Coranne D., Turner, Clesson, Goldenberg, Alice, Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, Elena, Ragoussis, Vassilis, Pagnamenta, Alistair T., Kini, Usha, Vos, Harmjan R., van Es, Robert M., van Schaik, Richard F.M.A., van Essen, Ton A.J., Kibaek, Maria, Taylor, Jenny C., Sullivan, Jennifer, Shashi, Vandana, Petrovski, Slave, Fagerberg, Christina, Martin, Donna M., van Gassen, Koen L.I., Pfundt, Rolph, Falk, Marni J., McCormick, Elizabeth M., Timmers, H.T. Marc, van Hasselt, Peter M.
Veröffentlicht in Am J Hum Genet (2019)