Back

dr. J.J.M. (Judith) Jans

Associate Professor

  • Section Metabolic Diagnostics

dr. J.J.M. (Judith) Jans

Research Programs

Biography

Judith Jans is a laboratory specialist in Clinical Genetics, specializing in diagnostics of inborn errors of metabolism. She is a staff member at the section Metabolic Diagnostics at the Department of Genetics at the Wilhelmina Children’s Hospital. Her research interests include the elucidation of novel genetic metabolic diseases, with a specific interest in developing untargeted metabolomics to aid in this process. Recent work has focused on the introduction of untargeted metabolomics in diagnostics and fully integrating genomics and metabolomics data to improve patient care.

Research Output (68)

Cross-omics:Integrating genomics with metabolomics in clinical diagnostics

Kerkhofs Marten H.P.M., Haijes Hanneke A., Marcel Willemsen A., 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. 18 mei 2020, In: Metabolites. 10

Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations

Ciapaite Jolita, Albersen Monique, Savelberg Sanne M C, Bosma Marjolein, Tessadori Federico, Gerrits Johan, Lansu Nico, Zwakenberg Susan, Bakkers Jeroen P W, Zwartkruis Fried J T, van Haaften Gijs, Jans Judith J, Verhoeven-Duif Nanda M 1 mrt 2020, In: Biochimica et Biophysica Acta. Molecular Basis of Disease. 1866 11 p.

Untargeted metabolomics for metabolic diagnostic screening with automated data interpretation using a knowledge-based algorithm

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. 1 feb 2020, In: International journal of molecular sciences. 21 12 p.

Glutaminase deficiency caused by short tandem repeat expansion in GLS

Rumping Lynne, Jans Judith J., Van Hasselt Peter M. 19 sep 2019, In: New England Journal of Medicine. 381 , p. 1185-1185 1 p.

MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy

Broeks Melissa H., Shamseldin Hanan E., Alhashem Amal, Hashem Mais, Abdulwahab Firdous, Alshedi Tarfa, Alobaid Iman, Zwartkruis Fried, Westland Denise, Fuchs Sabine, Verhoeven-Duif Nanda M., Jans Judith J.M., Alkuraya Fowzan S. 19 sep 2019, In: Human Genetics. 138 , p. 1247-1257 11 p.

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

van Karnebeek Clara D M, Ramos Rúben J, Wen Xiao-Yan, Tarailo-Graovac Maja, Gleeson Joseph G, Skrypnyk Cristina, Brand-Arzamendi Koroboshka, Karbassi Farhad, Issa Mahmoud Y, van der Lee Robin, Drögemöller Britt I, Koster Janet, Rousseau Justine, Campeau Philippe M, Wang Youdong, Cao Feng, Li Meng, Ruiter Jos, Ciapaite Jolita, Kluijtmans Leo A J, Willemsen Michel A A P, Jans Judith J, Ross Colin J, Wintjes Liesbeth T, Rodenburg Richard J, Huigen Marleen C D G, Jia Zhengping, Waterham Hans R, Wasserman Wyeth W, Wanders Ronald J A, Verhoeven-Duif Nanda M, Zaki Maha S, Wevers Ron A 5 sep 2019, In: American Journal of Human Genetics. 105 , p. 534-548 15 p.

Pathophysiology of propionic and methylmalonic acidemias. Part 1:Complications

Haijes Hanneke A., Jans Judith J.M., Tas Simone Y., Verhoeven-Duif Nanda M., van Hasselt Peter M. sep 2019, In: Journal of Inherited Metabolic Disease. 42 , p. 730-744 15 p.

Pathophysiology of propionic and methylmalonic acidemias. Part 2:Treatment strategies

Haijes Hanneke A., van Hasselt Peter M., Jans Judith J.M., Verhoeven-Duif Nanda M. sep 2019, In: Journal of Inherited Metabolic Disease. 42 , p. 745-761 17 p.

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation

Haijes Hanneke A., de Sain-van der Velden Monique G.M., Prinsen Hubertus C.M.T., Willems Anke P., van der Ham Maria, Gerrits Johan, Couse Madeline H., Friedman Jan M., van Karnebeek Clara D.M., Selby Kathryn A., van Hasselt Peter M., Verhoeven-Duif Nanda M., Jans Judith J.M. 1 aug 2019, In: Molecular Genetics and Metabolism. 127 , p. 368-372 5 p.

Genetic defect of the sodium-dependent multivitamin transporter:A treatable disease, mimicking biotinidase deficiency

Schwantje Marit, de Sain-van der Velden Monique, Jans Judith, van Gassen Koen, Dorrepaal Charlotte, Koop Klaas, Visser Gepke jul 2019, In: JIMD Reports. 48 , p. 11-14 4 p.

All Research Output (68)