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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

Child Health

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 (89)

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 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.

Metabolomics in Severe Aortic Stenosis Reveals Intermediates of Nitric Oxide Synthesis as Most Distinctive Markers

van Driel Beau Olivier, Schuldt Maike, Algül Sila, Levin Evgeni, Güclü Ahmet, Germans Tjeerd, Rossum Albert C van, Pei Jiayi, Harakalova Magdalena, Baas Annette, Jans Judith J M, van der Velden Jolanda 30 Mar 2021, In: International journal of molecular sciences. 22 , p. 1-18

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

Ghosh Shereen G, Lee Sangmoon, Fabunan Rudy, Chai Guoliang, Zaki Maha S, Abdel-Salam Ghada, Sultan Tipu, Ben-Omran Tawfeg, Alvi Javeria Raza, McEvoy-Venneri Jennifer, Stanley Valentina, Patel Aakash, Ross Danica, Ding Jeffrey, Jain Mohit, Pan Daqiang, Lübbert Philipp, Kammerer Bernd, Wiedemann Nils, Verhoeven-Duif Nanda M, Jans Judith J, Murphy David, Toosi Mehran Beiraghi, Ashrafzadeh Farah, Imannezhad Shima, Karimiani Ehsan Ghayoor, Ibrahim Khalid, Waters Elizabeth R, Maroofian Reza, Gleeson Joseph G Mar 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23 , p. 524-533 10 p.

BIO FOr CARE:biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants-design and status

Jansen M, Christiaans I, van der Crabben S N, Michels M, Huurman R, Hoedemaekers Y M, Dooijes D, Jongbloed J D H, Boven L G, Lekanne Deprez R H, Wilde A A M, Jans J J M, van der Velden J, de Boer R A, van Tintelen J P, Asselbergs F W, Baas A F 2021, In: Netherlands Heart Journal. 29 , p. 318-329 12 p.

Metabolic fingerprint in hereditary spherocytosis correlates with red blood cell characteristics and clinical severity

Van Dooijeweert Birgit, Broeks Melissa H., Verhoeven-Duif Nanda M., Van Solinge Wouter W., Van Beers Eduard J., Rab Minke A.E., Nieuwenhuis Edward E.S., Jans Judith J.M., Bartels Marije, Van Wijk Richard 2021, In: HemaSphere. 5 , p. 1-4

The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism

Lehmann Vivian, Schene Imre F., Ardisasmita Arif I., Liv Nalan, Veenendaal Tineke, Klumperman Judith, van der Doef Hubert P.J., Verkade Henkjan J., Verstegen Monique M.A., van der Laan Luc J.W., Jans Judith J.M., Verhoeven-Duif Nanda M., van Hasselt Peter M., Nieuwenhuis Edward E.S., Spee Bart, Fuchs Sabine A. 2021, In: Journal of Inherited Metabolic Disease. 45 , p. 353-365 13 p.

All research output

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