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

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

Associate Professor

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Research Output (103)

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.

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

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.

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.

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 Oct 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

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 May 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 Mar 2020, In: Orphanet Journal of Rare Diseases. 15 , p. 1-13

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