Works by Wortmann, Saskia B

Results: 63
    1

    Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

    Published in:
    Human Mutation, 2022, v. 43, n. 3, p. 403, doi. 10.1002/humu.24326
    By:
    • Scala, Marcello;
    • Wortmann, Saskia B.;
    • Kaya, Namik;
    • Stellingwerff, Menno D.;
    • Pistorio, Angela;
    • Glamuzina, Emma;
    • van Karnebeek, Clara D.;
    • Skrypnyk, Cristina;
    • Iwanicka‐Pronicka, Katarzyna;
    • Piekutowska‐Abramczuk, Dorota;
    • Ciara, Elżbieta;
    • Tort, Frederic;
    • Sheidley, Beth;
    • Poduri, Annapurna;
    • Jayakar, Parul;
    • Jayakar, Anuj;
    • Upadia, Jariya;
    • Walano, Nicolette;
    • Haack, Tobias B.;
    • Prokisch, Holger
    Publication type:
    Article
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    Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

    Published in:
    Human Mutation, 2017, v. 38, n. 12, p. 1786, doi. 10.1002/humu.23340
    By:
    • Wortmann, Saskia B.;
    • Timal, Sharita;
    • Venselaar, Hanka;
    • Wintjes, Liesbeth T.;
    • Kopajtich, Robert;
    • Feichtinger, René G.;
    • Onnekink, Carla;
    • Mühlmeister, Mareike;
    • Brandt, Ulrich;
    • Smeitink, Jan A.;
    • Veltman, Joris A.;
    • Sperl, Wolfgang;
    • Lefeber, Dirk;
    • Pruijn, Ger;
    • Stojanovic, Vesna;
    • Freisinger, Peter;
    • v Spronsen, Francjan;
    • Derks, Terry GJ;
    • Veenstra-Knol, Hermine E.;
    • Mayr, Johannes A
    Publication type:
    Article
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    Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020032
    By:
    • Spenger, Johannes;
    • Maier, Esther M.;
    • Wechselberger, Katharina;
    • Bauder, Florian;
    • Kocher, Melanie;
    • Sperl, Wolfgang;
    • Preisel, Martin;
    • Schiergens, Katharina A.;
    • Konstantopoulou, Vassiliki;
    • Röschinger, Wulf;
    • Häberle, Johannes;
    • Schmitt-Mechelke, Thomas;
    • Wortmann, Saskia B.;
    • Fingerhut, Ralph
    Publication type:
    Article
    8

    Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 5, p. 968, doi. 10.1002/acn3.768
    By:
    • Krenn, Martin;
    • Knaus, Alexej;
    • Westphal, Dominik S.;
    • Wortmann, Saskia B.;
    • Polster, Tilman;
    • Woermann, Friedrich G.;
    • Karenfort, Michael;
    • Mayatepek, Ertan;
    • Meitinger, Thomas;
    • Wagner, Matias;
    • Distelmaier, Felix
    Publication type:
    Article
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    Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

    Published in:
    Nature Genetics, 2012, v. 44, n. 7, p. 797, doi. 10.1038/ng.2325
    By:
    • Wortmann, Saskia B;
    • Vaz, Frédéric M;
    • Gardeitchik, Thatjana;
    • Vissers, Lisenka E L M;
    • Renkema, G Herma;
    • Schuurs-Hoeijmakers, Janneke H M;
    • Kulik, Wim;
    • Lammens, Martin;
    • Christin, Christin;
    • Kluijtmans, Leo A J;
    • Rodenburg, Richard J;
    • Nijtmans, Leo G J;
    • Grünewald, Anne;
    • Klein, Christine;
    • Gerhold, Joachim M;
    • Kozicz, Tamas;
    • van Hasselt, Peter M;
    • Harakalova, Magdalena;
    • Kloosterman, Wigard;
    • Bari?, Ivo
    Publication type:
    Article
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    Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.

    Published in:
    Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00873-3
    By:
    • Yap, Zheng Yie;
    • Park, Yo Han;
    • Wortmann, Saskia B.;
    • Gunning, Adam C.;
    • Ezer, Shlomit;
    • Lee, Sukyeong;
    • Duraine, Lita;
    • Wilichowski, Ekkehard;
    • Wilson, Kate;
    • Mayr, Johannes A.;
    • Wagner, Matias;
    • Li, Hong;
    • Kini, Usha;
    • Black, Emily Davis;
    • Monaghan, Kristin G.;
    • Lupski, James R.;
    • Ellard, Sian;
    • Westphal, Dominik S.;
    • Harel, Tamar;
    • Yoon, Wan Hee
    Publication type:
    Article
    18

    Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 4, p. 556, doi. 10.1111/cge.13706
    By:
    • Panneman, Daan M.;
    • Wortmann, Saskia B.;
    • Haaxma, Charlotte A.;
    • Hasselt, Peter M.;
    • Wolf, Nicole I.;
    • Hendriks, Yvonne;
    • Küsters, Benno;
    • Emst‐de Vries, Sjenet;
    • Westerlo, Els;
    • Koopman, Werner J.H.;
    • Wintjes, Liesbeth;
    • Brandt, Frans;
    • Vries, Maaike;
    • Lefeber, Dirk J.;
    • Smeitink, Jan A.M.;
    • Rodenburg, Richard J.
    Publication type:
    Article
    19

    Perinatal and early infantile symptoms in congenital disorders of glycosylation.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 578, doi. 10.1002/ajmg.a.35702
    By:
    • Funke, Simone;
    • Gardeitchik, Thatjana;
    • Kouwenberg, Dorus;
    • Mohamed, Miski;
    • Wortmann, Saskia B.;
    • Korsch, Eckhard;
    • Adamowicz, Maciej;
    • Al‐Gazali, Lihadh;
    • Wevers, Ron A.;
    • Horvath, Adrienne;
    • Lefeber, Dirk J.;
    • Morava, Éva
    Publication type:
    Article
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    SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 11, p. 4547, doi. 10.1093/brain/awad235
    By:
    • Fasham, James;
    • Huebner, Antje K;
    • Liebmann, Lutz;
    • Khalaf-Nazzal, Reham;
    • Maroofian, Reza;
    • Kryeziu, Nderim;
    • Wortmann, Saskia B;
    • Leslie, Joseph S;
    • Ubeyratna, Nishanka;
    • Mancini, Grazia M S;
    • Slegtenhorst, Marjon van;
    • Wilke, Martina;
    • Haack, Tobias B;
    • Shamseldin, Hanan E;
    • Gleeson, Joseph G;
    • Almuhaizea, Mohamed;
    • Dweikat, Imad;
    • Abu-Libdeh, Bassam;
    • Daana, Muhannad;
    • Zaki, Maha S
    Publication type:
    Article
    25

    Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

    Published in:
    2019
    By:
    • Vaz, Frédéric M;
    • McDermott, John H;
    • Alders, Mariëlle;
    • Wortmann, Saskia B;
    • Kölker, Stefan;
    • Pras-Raves, Mia L;
    • Vervaart, Martin A T;
    • Lenthe, Henk van;
    • Luyf, Angela C M;
    • Elfrink, Hyung L;
    • Metcalfe, Kay;
    • Cuvertino, Sara;
    • Clayton, Peter E;
    • Yarwood, Rebecca;
    • Lowe, Martin P;
    • Lovell, Simon;
    • Rogers, Richard C;
    • Study, Deciphering Developmental Disorders;
    • Kampen, Antoine H C van;
    • Ruiter, Jos P N
    Publication type:
    journal article
    26

    CAD mutations and uridine-responsive epileptic encephalopathy.

    Published in:
    2017
    By:
    • Koch, Johannes;
    • Mayr, Johannes A.;
    • Alhaddad, Bader;
    • Rauscher, Christian;
    • Bierau, Jörgen;
    • Kovacs-Nagy, Reka;
    • Coene, Karlien L. M.;
    • Bader, Ingrid;
    • Holzhacker, Monika;
    • Prokisch, Holger;
    • Venselaar, Hanka;
    • Wevers, Ron A.;
    • Distelmaier, Felix;
    • Polster, Tilman;
    • Leiz, Steffen;
    • Betzler, Cornelia;
    • Strom, Tim M.;
    • Sperl, Wolfgang;
    • Meitinger, Thomas;
    • Wortmann, Saskia B.
    Publication type:
    journal article
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    KCNT2‐Related Disorders: Phenotypes, Functional, and Pharmacological Properties.

    Published in:
    Annals of Neurology, 2023, v. 94, n. 2, p. 332, doi. 10.1002/ana.26662
    By:
    • Cioclu, Maria Cristina;
    • Mosca, Ilaria;
    • Ambrosino, Paolo;
    • Puzo, Deborah;
    • Bayat, Allan;
    • Wortmann, Saskia B.;
    • Koch, Johannes;
    • Strehlow, Vincent;
    • Shirai, Kentaro;
    • Matsumoto, Naomichi;
    • Sanders, Stephan J.;
    • Michaud, Vincent;
    • Legendre, Marine;
    • Riva, Antonella;
    • Striano, Pasquale;
    • Muhle, Hiltrud;
    • Pendziwiat, Manuela;
    • Lesca, Gaetan;
    • Mangano, Giuseppe Donato;
    • Nardello, Rosaria
    Publication type:
    Article
    30

    Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.

    Published in:
    2021
    By:
    • Schänzer, Anne;
    • Achleitner, Melanie T.;
    • Trümbach, Dietrich;
    • Hubert, Laurence;
    • Munnich, Arnold;
    • Ahlemeyer, Barbara;
    • AlAbdulrahim, Maha M.;
    • Greif, Philipp A.;
    • Vosberg, Sebastian;
    • Hummer, Blake;
    • Feichtinger, René G.;
    • Mayr, Johannes A.;
    • Wortmann, Saskia B.;
    • Aichner, Heidi;
    • Rudnik‐Schöneborn, Sabine;
    • Ruiz, Anna;
    • Gabau, Elisabeth;
    • Sánchez, Jacobo Pérez;
    • Ellard, Sian;
    • Homfray, Tessa
    Publication type:
    journal article
    31

    Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.

    Published in:
    Oxidative Medicine & Cellular Longevity, 2017, p. 1, doi. 10.1155/2017/7202589
    By:
    • Feichtinger, René G.;
    • Brunner-Krainz, Michaela;
    • Alhaddad, Bader;
    • Wortmann, Saskia B.;
    • Kovacs-Nagy, Reka;
    • Stojakovic, Tatjana;
    • Erwa, Wolfgang;
    • Resch, Bernhard;
    • Windischhofer, Werner;
    • Verheyen, Sarah;
    • Uhrig, Sabine;
    • Windpassinger, Christian;
    • Locker, Felix;
    • Makowski, Christine;
    • Strom, Tim M.;
    • Meitinger, Thomas;
    • Prokisch, Holger;
    • Sperl, Wolfgang;
    • Haack, Tobias B.;
    • Mayr, Johannes A.
    Publication type:
    Article
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    Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1170, doi. 10.1002/jimd.12667
    By:
    • del Caño‐Ochoa, Francisco;
    • Ng, Bobby G.;
    • Rubio‐del‐Campo, Antonio;
    • Mahajan, Sonal;
    • Wilson, Matthew P.;
    • Vilar, Marçal;
    • Rymen, Daisy;
    • Sánchez‐Pintos, Paula;
    • Kenny, Joanna;
    • Ley Martos, Myriam;
    • Campos, Teresa;
    • Wortmann, Saskia B.;
    • Freeze, Hudson H.;
    • Ramón‐Maiques, Santiago
    Publication type:
    Article
    34

    MOGS‐CDG: Quantitative analysis of the diagnostic Glc<sub>3</sub>Man tetrasaccharide and clinical spectrum of six new cases.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 313, doi. 10.1002/jimd.12588
    By:
    • Post, Merel A.;
    • de Wit, Isis;
    • Zijlstra, Fokje S. M.;
    • Engelke, Udo F. H.;
    • van Rooij, Arno;
    • Christodoulou, John;
    • Tan, Tiong Yang;
    • Le Fevre, Anna;
    • Jin, Danqun;
    • Yaplito‐Lee, Joy;
    • Lee, Beom Hee;
    • Low, Karen J.;
    • Mallick, Andrew A.;
    • Õunap, Katrin;
    • Pitt, James;
    • Reardon, William;
    • Vals, Mari‐Anne;
    • Wortmann, Saskia B.;
    • Wessels, Hans J. C. T.;
    • Bärenfänger, Melissa
    Publication type:
    Article
    35

    How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 663, doi. 10.1002/jimd.12507
    By:
    • Wortmann, Saskia B.;
    • Oud, Machteld M.;
    • Alders, Mariëlle;
    • Coene, Karlien L. M.;
    • van der Crabben, Saskia N.;
    • Feichtinger, René G.;
    • Garanto, Alejandro;
    • Hoischen, Alex;
    • Langeveld, Mirjam;
    • Lefeber, Dirk;
    • Mayr, Johannes A.;
    • Ockeloen, Charlotte W.;
    • Prokisch, Holger;
    • Rodenburg, Richard;
    • Waterham, Hans R.;
    • Wevers, Ron A.;
    • van de Warrenburg, Bart P. C.;
    • Willemsen, Michel A. A. P.;
    • Wolf, Nicole I.;
    • Vissers, Lisenka E. L. M.
    Publication type:
    Article
    36

    Congenital disorders of glycosylation with defective fucosylation.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1441, doi. 10.1002/jimd.12426
    By:
    • Hüllen, Andreas;
    • Falkenstein, Kristina;
    • Weigel, Corina;
    • Huidekoper, Hidde;
    • Naumann‐Bartsch, Nora;
    • Spenger, Johannes;
    • Feichtinger, René G.;
    • Schaefers, Jacqueline;
    • Frenz, Stephanie;
    • Kotlarz, Daniel;
    • Momen, Tooba;
    • Khoshnevisan, Razieh;
    • Riedhammer, Korbinian M.;
    • Santer, René;
    • Herget, Theresia;
    • Rennings, Alexander;
    • Lefeber, Dirk J.;
    • Mayr, Johannes A.;
    • Thiel, Christian;
    • Wortmann, Saskia B.
    Publication type:
    Article
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    Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 337, doi. 10.1007/s10545-017-0131-6
    By:
    • Coene, Karlien L. M.;
    • Kluijtmans, Leo A. J.;
    • van der Heeft, Ed;
    • Engelke, Udo F. H.;
    • de Boer, Siebolt;
    • Hoegen, Brechtje;
    • Kwast, Hanneke J. T.;
    • van de Vorst, Maartje;
    • Huigen, Marleen C. D. G.;
    • Keularts, Irene M. L. W.;
    • Schreuder, Michiel F.;
    • van Karnebeek, Clara D. M.;
    • Wortmann, Saskia B.;
    • de Vries, Maaike C.;
    • Janssen, Mirian C. H.;
    • Gilissen, Christian;
    • Engel, Jasper;
    • Wevers, Ron A.
    Publication type:
    Article
    42

    The role of the clinician in the multi-omics era: are you ready?

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 571, doi. 10.1007/s10545-017-0128-1
    By:
    • van Karnebeek, Clara D. M.;
    • Wortmann, Saskia B.;
    • Tarailo-Graovac, Maja;
    • Langeveld, Mirjam;
    • Ferreira, Carlos R.;
    • van de Kamp, Jiddeke M.;
    • Hollak, Carla E.;
    • Wasserman, Wyeth W.;
    • Waterham, Hans R.;
    • Wevers, Ron A.;
    • Haack, Tobias B.;
    • Wanders, Ronald J.A.;
    • Boycott, Kym M.
    Publication type:
    Article
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    Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 2, p. 138, doi. 10.1038/ejhg.2010.171
    By:
    • Kleefstra, Tjitske;
    • Wortmann, Saskia B;
    • Rodenburg, Richard J. T.;
    • Bongers, Ernie M. H. F.;
    • Hadzsiev, Kinga;
    • Noordam, Cees;
    • Van den Heuvel, Lambert P.;
    • Nillesen, Willy M.;
    • Hollody, Katalin;
    • Gillessen-Kaesbach, Gabrielle;
    • Lammens, Martin;
    • Smeitink, Jan A. M.;
    • Van der Burgt, Ineke;
    • Morava, Eva
    Publication type:
    Article
    48

    Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 12, p. 3328, doi. 10.1210/clinem/dgac528
    By:
    • Tucker, Elena J.;
    • Baker, Megan J.;
    • Hock, Daniella H.;
    • Warren, Julia T.;
    • Jaillard, Sylvie;
    • Bell, Katrina M.;
    • Sreenivasan, Rajini;
    • Bakhshalizadeh, Shabnam;
    • Hanna, Chloe A.;
    • Caruana, Nikeisha J.;
    • Wortmann, Saskia B.;
    • Rahman, Shamima;
    • Pitceathly, Robert D. S.;
    • Donadieu, Jean;
    • Alimi, Aurelia;
    • Launay, Vincent;
    • Coppo, Paul;
    • Christin-Maitre, Sophie;
    • Robevska, Gorjana;
    • van den Bergen, Jocelyn
    Publication type:
    Article
    49

    Dependence of mitochondrial calcium signalling and dynamics on the disaggregase, CLPB.

    Published in:
    Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-57641-9
    By:
    • D'Angelo, Donato;
    • Sánchez-Vázquez, Víctor H.;
    • Cartes-Saavedra, Benjamín;
    • Vecellio Reane, Denis;
    • Cupo, Ryan R.;
    • Delgado de la Herran, Hilda;
    • Ghirardo, Giorgia;
    • Shorter, James;
    • Wevers, Ron A.;
    • Wortmann, Saskia B.;
    • Perocchi, Fabiana;
    • Rizzuto, Rosario;
    • Raffaello, Anna;
    • Hajnóczky, György
    Publication type:
    Article
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