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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 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 (82)

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 mei 2021, In: British Journal of Haematology. 193 , p. 1185-1193 9 p.

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 mrt 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.

High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome

Molema F, Haijes H A, Janssen M C, Bosch A M, van Spronsen F J, Mulder M F, Verhoeven-Duif N M, Jans J J M, van der Ploeg A T, Wagenmakers M A, Rubio-Gozalbo M E, Brouwers M C G J, de Vries M C, Fuchs S, Langendonk J G, Rizopoulos D, van Hasselt P M, Williams M 25 dec 2020, In: Clinical Nutrition. 40 , p. 3622-3630 9 p.

Dissemination and analysis of the quality assurance (QA) and quality control (QC) practices of LC-MS based untargeted metabolomics practitioners

Evans Anne M, O'Donovan Claire, Playdon Mary, Beecher Chris, Beger Richard D, Bowden John A, Broadhurst David, Clish Clary B, Dasari Surendra, Dunn Warwick B, Griffin Julian L, Hartung Thomas, Hsu Ping- Ching, Huan Tao, Jans Judith, Jones Christina M, Kachman Maureen, Kleensang Andre, Lewis Matthew R, Monge María Eugenia, Mosley Jonathan D, Taylor Eric, Tayyari Fariba, Theodoridis Georgios, Torta Federico, Ubhi Baljit K, Vuckovic Dajana, 12 okt 2020, In: Metabolomics. 16 , p. 1-16

MetaboShiny:interactive analysis and metabolite annotation of mass spectrometry-based metabolomics data

Wolthuis Joanna C, Magnusdottir Stefania, Pras-Raves Mia, Moshiri Maryam, Jans Judith J M, Burgering Boudewijn, van Mil Saskia, de Ridder Jeroen 11 sep 2020, In: Metabolomics. 16 , p. 99

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 10 sep 2020, In: Haematologica. Online ahead of print , p. 1-20

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 15 p.

Understanding acute metabolic decompensation in propionic and methylmalonic acidemias:a deep metabolic phenotyping approach

Haijes H A, Jans J J M, van der Ham M, van Hasselt P M, Verhoeven-Duif N M 6 mrt 2020, In: Orphanet Journal of Rare Diseases. 15 , p. 1-13

Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity

Rumping Lynne, Pras-Raves Mia L, Gerrits Johan, Tang Yuen Fung, Willemsen Marcel A, Houwen Roderick H J, van Haaften Gijs, van Hasselt Peter M, Verhoeven-Duif Nanda M, Jans Judith J M 1 mrt 2020, In: Biochimica et biophysica acta-General subjects. 1864 , p. 1-7

All research output

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