Sex difference in the mouse BAT transcriptome reveals a role of progesterone von Kaikaew, Kasiphak, Grefhorst, Aldo, Steenbergen, Jacobie, Swagemakers, Sigrid M A, McLuskey, Anke, Visser, Jenny A

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Plasticity mechanisms of genetically distinct Purkinje cells von Voerman, Stijn, Broersen, Robin, Swagemakers, Sigrid M. A., De Zeeuw, Chris I., Spek, Peter J.

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A germline STAT6 gain-of-function variant is associated with early-onset allergies von Suratannon, Narissara, Ittiwut, Chupong, Dik, Willem A., Ittiwut, Rungnapa, Meesilpavikkai, Kornvalee, Israsena, Nipan, Ingrungruanglert, Praewphan, Dalm, Virgil A.S. H., van Daele, Paul L.A., Sanpavat, Anapat, Chaijitraruch, Nataruks, Schrijver, Benjamin, Buranapraditkun, Supranee, Porntaveetus, Thantrira, Swagemakers, Sigrid M.A., IJspeert, Hanna, Palaga, Tanapat, Suphapeetiporn, Kanya, van der Spek, Peter J., Hirankarn, Nattiya, Chatchatee, Pantipa, Martin van Hagen, P., Shotelersuk, Vorasuk

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Type 1 interferon-inducible gene expression in QuantiFERON Gold TB-positive uveitis: A tool to stratify a high versus low risk of active tuberculosis? von La Distia Nora, Rina, Sitompul, Ratna, Bakker, Marleen, Versnel, Marjan A, Swagemakers, Sigrid M A, van der Spek, Peter J, Susiyanti, Made, Edwar, Lukman, Sjamsoe, Soedarman, Singh, Gurmeet, Handayani, Rr Diah, Rothova, Aniki, van Hagen, P Martin, Dik, Willem A

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A new strategy to identify and annotate human RPE-specific gene expression von Booij, Judith C, ten Brink, Jacoline B, Swagemakers, Sigrid M A, Verkerk, Annemieke J M H, Essing, Anke H W, van der Spek, Peter J, Bergen, Arthur A B

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Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis von Barrell, William B, Adel Al-Lami, Hadeel, Goos, Jacqueline A C, Swagemakers, Sigrid M A, van Dooren, Marieke, Torban, Elena, van der Spek, Peter J, Mathijssen, Irene M J, Liu, Karen J

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An Autoimmune Phenotype in Vulvar Lichen Sclerosus and Lichen Planus: A Th1 Response and High Levels of MicroRNA-155 von Terlou, Annelinde, Santegoets, Lindy A.M., van der Meijden, Willem I., Heijmans-Antonissen, Claudia, Swagemakers, Sigrid M.A., van der Spek, Peter J., Ewing, Patricia C., van Beurden, Marc, Helmerhorst, Theo J.M., Blok, Leen J.

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Precursor lesions of vulvar squamous cell carcinoma – histology and biomarkers: A systematic review von Dasgupta, Shatavisha, Ewing-Graham, Patricia C., Swagemakers, Sigrid M.A., van der Spek, Peter J., van Doorn, Helena C., Noordhoek Hegt, Vincent, Koljenović, Senada, van Kemenade, Folkert J.

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Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy von Botta, Elena, Theil, Arjan F, Raams, Anja, Caligiuri, Giuseppina, Giachetti, Sarah, Bione, Silvia, Accadia, Maria, Lombardi, Anita, Smith, Desiree E C, Mendes, Marisa I, Swagemakers, Sigrid M A, van der Spek, Peter J, Salomons, Gajja S, Hoeijmakers, Jan H J, Yesodharan, Dhanya, Nampoothiri, Sheela, Ogi, Tomoo, Lehmann, Alan R, Orioli, Donata, Vermeulen, Wim

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Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype von Theil, Arjan F., Botta, Elena, Raams, Anja, Smith, Desiree E.C., Mendes, Marisa I., Caligiuri, Giuseppina, Giachetti, Sarah, Bione, Silvia, Carriero, Roberta, Liberi, Giordano, Zardoni, Luca, Swagemakers, Sigrid M.A., Salomons, Gajja S., Sarasin, Alain, Lehmann, Alan, van der Spek, Peter J., Ogi, Tomoo, Hoeijmakers, Jan H.J., Vermeulen, Wim, Orioli, Donata

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New cellular markers at diagnosis are associated with isolated central nervous system relapse in paediatric B‐cell precursor acute lymphoblastic leukaemia von Velden, Vincent H. J., Launaij, Daphne, Vries, Jeltje F., Haas, Valerie, Sonneveld, Edwin, Voerman, Jane S. A., Bie, Maaike, Revesz, Tamas, Avigad, Smadar, Yeoh, Allen E. J., Swagemakers, Sigrid M. A., Eckert, Cornelia, Pieters, Rob, Dongen, Jacques J. M.

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Altered leukocyte subsets and immune proteome indicate proinflammatory mechanisms in mastocytosis von Hermans, Maud A.W., Heeringa, Jorn J., Swagemakers, Sigrid G.A., Schrijver, Benjamin, van Daele, Paul L.A., van der Spek, Peter J., van Hagen, P. Martin, van Zelm, Menno C., Dik, Wim A.

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Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability von Twigg, Stephen R.F., Forecki, Jennifer, Goos, Jacqueline A.C., Richardson, Ivy C.A., Hoogeboom, A. Jeannette M., van den Ouweland, Ans M.W., Swagemakers, Sigrid M.A., Lequin, Maarten H., Van Antwerp, Daniel, McGowan, Simon J., Westbury, Isabelle, Miller, Kerry A., Wall, Steven A., van der Spek, Peter J., Mathijssen, Irene M.J., Pauws, Erwin, Merzdorf, Christa S., Wilkie, Andrew O.M.

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A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation von van Wijck, Rogier T. A., Swagemakers, Sigrid M. A., van der Spek, Peter J., van Hagen, P. Martin, van Daele, Paul L. A.

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SMAD6 variants in craniosynostosis: genotype and phenotype evaluation von Calpena, Eduardo, Cuellar, Araceli, Bala, Krithi, Swagemakers, Sigrid M. A., Koelling, Nils, McGowan, Simon J., Phipps, Julie M., Balasubramanian, Meena, Cunningham, Michael L., Douzgou, Sofia, Lattanzi, Wanda, Morton, Jenny E. V., Shears, Deborah, Weber, Astrid, Wilson, Louise C., Lord, Helen, Lester, Tracy, Johnson, David, Wall, Steven A., Twigg, Stephen R. F., Mathijssen, Irene M. J., Boardman-Pretty, Freya, Boyadjiev, Simeon A., Wilkie, Andrew O. M.

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Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders von Cunningham, Janet L, Frankovich, Jennifer, Dubin, Robert A, Pedrosa, Erika, Baykara, Refia Nur, Schlenk, Noelle Cathleen, Maqbool, Shahina B, Dolstra, Hedwig, Marino, Jacqueline, Edinger, Jacob, Shea, Julia M, Laje, Gonzalo, Swagemakers, Sigrid M A, Sinnadurai, Siamala, Zhang, Zhengdong D, Lin, Jhih-Rong, van der Spek, Peter J, Lachman, Herbert M

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Evaluation of Immunohistochemical Markers, CK17 and SOX2, as Adjuncts to p53 for the Diagnosis of Differentiated Vulvar Intraepithelial Neoplasia (dVIN) von Dasgupta, Shatavisha, Koljenović, Senada, van den Bosch, Thierry P P, Swagemakers, Sigrid M A, van der Hoeven, Nick M A, van Marion, Ronald, van der Spek, Peter J, van Doorn, Helena C, van Kemenade, Folkert J, Ewing-Graham, Patricia C

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A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis von Goos, Jacqueline A C, Vogel, Walter K, Mlcochova, Hana, Millard, Christopher J, Esfandiari, Elahe, Selman, Wisam H, Calpena, Eduardo, Koelling, Nils, Carpenter, Evan L, Swagemakers, Sigrid M A, van der Spek, Peter J, Filtz, Theresa M, Schwabe, John W R, Iwaniec, Urszula T, Mathijssen, Irene M J, Leid, Mark, Twigg, Stephen R F

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De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder von Calpena, Eduardo, Hervieu, Alexia, Kaserer, Teresa, Swagemakers, Sigrid M.A., Goos, Jacqueline A.C., Popoola, Olajumoke, Ortiz-Ruiz, Maria Jesus, Barbaro-Dieber, Tina, Bownass, Lucy, Brilstra, Eva H., Brimble, Elise, Foulds, Nicola, Grebe, Theresa A., Harder, Aster V.E., Lees, Melissa M., Monaghan, Kristin G., Newbury-Ecob, Ruth A., Ong, Kai-Ren, Osio, Deborah, Reynoso Santos, Francis Jeshira, Ruzhnikov, Maura R.Z., Telegrafi, Aida, van Binsbergen, Ellen, van Dooren, Marieke F., van der Spek, Peter J., Blagg, Julian, Twigg, Stephen R.F., Mathijssen, Irene M.J., Clarke, Paul A., Wilkie, Andrew O.M.

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Functional Analysis of Genetic Variation in the SECIS Element of Thyroid Hormone Activating Type 2 Deiodinase von Zevenbergen, Chantal, Groeneweg, Stefan, Swagemakers, Sigrid M A, de Jong, Arthur, Medici-Van den Herik, Evita, Rispens, Madzy, Klootwijk, Wim, Medici, Marco, de Rijke, Yolanda B, Meima, Marcel E, Larsen, P Reed, Chavatte, Laurent, Venter, Deon, Peeters, Robin P, Van der Spek, Peter J, Visser, W Edward

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