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

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

Associate Professor
dr. J.J.M. (Judith) Jans
  • Section Metabolic Diagnostics

Research Programs

Biography

Biography

Judith Jans is a laboratory specialist in Clinical Genetics, specializing in diagnostics of inborn errors of metabolism. She is associate professor 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 (103)

Multi-country metabolic signature discovery for chicken health classification

Wolthuis Joanna C., Magnúsdóttir Stefanía, Stigter Edwin, Tang Yuen Fung, Jans Judith, Gilbert Myrthe, van der Hee Bart, Langhout Pim, Gerrits Walter, Kies Arie, de Ridder Jeroen, van Mil Saskia 2 Feb 2023, In: Metabolomics. 19

Parasitic, bacterial, viral, immune-mediated, metabolic and nutritional factors associated with nodding syndrome

Edridge Arthur W D, Abd-Elfarag Gasim, Deijs Martin, Broeks Melissa H, Cristella Cosimo, Sie Brandon, Vaz Frédéric M, Jans Judith J M, Calis Job, Verhoef Hans, Demir Ayse, Poppert Sven, Nickel Beatrice, van Dam Alje, Sebit Boy, Titulaer Maarten J, Verweij Jaco J, de Jong Menno D, van Gool Tom, Faragher Brian, Verhoeven-Duif Nanda M, Elledge Stephen J, van der Hoek Lia, Boele van Hensbroek Michael 2023, In: Brain communications. 5 , p. 1-12

Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis:A case series and literature review

van Dijk Myrthe J, van Oirschot Brigitte A, Stam-Slob Manon C, Waanders Esmé, van der Zwaag Bert, van Beers Eduard J, Jans Judith J M, van der Linden Peter Willem, Torregrosa Diaz Jose M, Gardie Betty, Girodon François, Schots Rik, Thielen Noortje, van Wijk Richard 30 Sep 2022, In: British Journal of Haematology. 200 , p. 249-255 7 p.

Safety and efficacy of mitapivat, an oral pyruvate kinase activator, in sickle cell disease:a phase 2, open-label study

van Dijk Myrthe J, Rab Minke A E, van Oirschot Brigitte A, Bos Jennifer, Derichs Cleo, Rijneveld Anita W, Cnossen Marjon H, Nur Erfan, Biemond Bart J, Bartels Marije, Jans Judith J M, van Solinge Wouter W, Schutgens Roger E G, van Wijk Richard, van Beers Eduard J 5 Apr 2022, In: American Journal of Hematology. 97 , p. E226-E229

Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome

Korteling Dorinde, Boks Marco P, Fiksinski Ania M, van Hoek Ilja N, Vorstman Jacob A S, Verhoeven-Duif Nanda M, Jans Judith J M, Zinkstok Janneke R 9 Mar 2022, In: Translational Psychiatry. 12 , p. 1-7

Distinct Metabolomic Signatures in Preclinical and Obstructive Hypertrophic Cardiomyopathy

Schuldt Maike, van Driel Beau, Algül Sila, Parbhudayal Rahana Y, Barge-Schaapveld Daniela Q C M, Güçlü Ahmet, Jansen Mark, Michels Michelle, Baas Annette F, van de Wiel Mark A, Nieuwdorp Max, Levin Evgeni, Germans Tjeerd, Jans Judith J M, van der Velden Jolanda 29 Oct 2021, In: Cells. 10 , p. 1-16

Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency

Van Dooijeweert Birgit, Broeks Melissa H, Verhoeven-Duif Nanda M, Van Beers Eduard J, Nieuwenhuis Edward E S, Van Solinge Wouter W, Bartels Marije, Jans Judith J, Van Wijk Richard Oct 2021, In: Haematologica. 106 , p. 2720-2725 6 p.

UNTARGETED METABOLIC PROFILING IN DRIED BLOOD SPOTS REVEALS METABOLIC FINGERPRINT FOR 22Q11.2 DELETION SYNDROME

Zinkstok Janneke, Korteling Dorinde, Fiksinski Ania, Jans Judith, Verhoeven Nanda, Boks Marco Oct 2021, In: European Neuropsychopharmacology. 51 , p. E130-E130

Inborn disorders of the malate aspartate shuttle

Broeks Melissa H, van Karnebeek Clara D M, Wanders Ronald J A, Jans Judith J M, Verhoeven-Duif Nanda M Jul 2021, In: Journal of Inherited Metabolic Disease. 44 , p. 792-808 17 p.

Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia

van Dooijeweert Birgit, Broeks Melissa H, van Beers Eduard J, Verhoeven-Duif Nanda M, van Solinge Wouter W, Nieuwenhuis Edward E S, Jans Judith J, van Wijk Richard, Bartels Marije 17 May 2021, In: British Journal of Haematology. 193 , p. 1185-1193 9 p.

All research output

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