Distribution of Glycine/GABA Neurons in the Ventromedial Medulla with Descending Spinal Projections and Evidence for an Ascending Glycine/GABA Projection

por Hossaini, Mehdi, Goos, Jacqueline A. C., Kohli, Somesh K., Holstege, Jan C.
Publicado 2012

Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis

por Choi, Tsun M, Kramer, Gem J C, Goos, Jacqueline A C, Mathijssen, Irene M J, Wolvius, Eppo B, Ongkosuwito, Edwin M
Publicado 2021

Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis

por 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.
Publicado 2021

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis

por 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
Publicado 2019

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12‐Related Craniosynostosis

por Goos, Jacqueline A.C., Fenwick, Aimee L., Swagemakers, Sigrid M.A., McGowan, Simon J., Knight, Samantha J.L., Twigg, Stephen R.F., Hoogeboom, A. Jeannette M., van Dooren, Marieke F., Magielsen, Frank J., Wall, Steven A., Mathijssen, Irene M.J., Wilkie, Andrew O.M., van der Spek, Peter J., van den Ouweland, Ans M.W.
Publicado 2016

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

por 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.
Publicado 2015

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

por Goos, Jacqueline A C, Swagemakers, Sigrid M A, Twigg, Stephen R F, van Dooren, Marieke F, Hoogeboom, A Jeannette M, Beetz, Christian, Günther, Sven, Magielsen, Frank J, Ockeloen, Charlotte W, A Ramos-Arroyo, Maria, Pfundt, Rolph, Yntema, Helger G, van der Spek, Peter J, Stanier, Philip, Wieczorek, Dagmar, Wilkie, Andrew O M, van den Ouweland, Ans M W, Mathijssen, Irene M J, Hurst, Jane A
Publicado 2017

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency

por Suratannon, Narissara, van Wijck, Rogier T. A., Broer, Linda, Xue, Laixi, van Meurs, Joyce B. J., Barendregt, Barbara H., van der Burg, Mirjam, Dik, Willem A., Chatchatee, Pantipa, Langerak, Anton W., Swagemakers, Sigrid M. A., Goos, Jacqueline A. C., Mathijssen, Irene M. J., Dalm, Virgil A. S. H., Suphapeetiporn, Kanya, Heezen, Kim C., Drabwell, Jose, Uitterlinden, André G., van der Spek, Peter J., van Hagen, P. Martin
Publicado 2020

Diagnostic value of exome and whole genome sequencing in craniosynostosis

por Miller, Kerry A, Twigg, Stephen R F, McGowan, Simon J, Phipps, Julie M, Fenwick, Aimée L, Johnson, David, Wall, Steven A, Noons, Peter, Rees, Katie E M, Tidey, Elizabeth A, Craft, Judith, Taylor, John, Taylor, Jenny C, Goos, Jacqueline A C, Swagemakers, Sigrid M A, Mathijssen, Irene M J, van der Spek, Peter J, Lord, Helen, Lester, Tracy, Abid, Noina, Cilliers, Deirdre, Hurst, Jane A, Morton, Jenny E V, Sweeney, Elizabeth, Weber, Astrid, Wilson, Louise C, Wilkie, Andrew O M
Publicado 2017

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

por 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.
Publicado 2019

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

por Reijnders, Margot R.F., Miller, Kerry A., Alvi, Mohsan, Goos, Jacqueline A.C., Lees, Melissa M., de Burca, Anna, Henderson, Alex, Kraus, Alison, Mikat, Barbara, de Vries, Bert B.A., Isidor, Bertrand, Kerr, Bronwyn, Marcelis, Carlo, Schluth-Bolard, Caroline, Deshpande, Charu, Ruivenkamp, Claudia A.L., Wieczorek, Dagmar, Baralle, Diana, Blair, Edward M., Engels, Hartmut, Lüdecke, Hermann-Josef, Eason, Jacqueline, Santen, Gijs W.E., Clayton-Smith, Jill, Chandler, Kate, Tatton-Brown, Katrina, Payne, Katelyn, Helbig, Katherine, Radtke, Kelly, Nugent, Kimberly M., Cremer, Kirsten, Strom, Tim M., Bird, Lynne M., Sinnema, Margje, Bitner-Glindzicz, Maria, van Dooren, Marieke F., Alders, Marielle, Koopmans, Marije, Brick, Lauren, Kozenko, Mariya, Harline, Megan L., Klaassens, Merel, Steinraths, Michelle, Cooper, Nicola S., Edery, Patrick, Yap, Patrick, Terhal, Paulien A., van der Spek, Peter J., Lakeman, Phillis, Taylor, Rachel L., Littlejohn, Rebecca O., Pfundt, Rolph, Mercimek-Andrews, Saadet, Stegmann, Alexander P.A., Kant, Sarina G., McLean, Scott, Joss, Shelagh, Swagemakers, Sigrid M.A., Douzgou, Sofia, Wall, Steven A., Küry, Sébastien, Calpena, Eduardo, Koelling, Nils, McGowan, Simon J., Twigg, Stephen R.F., Mathijssen, Irene M.J., Nellaker, Christoffer, Brunner, Han G., Wilkie, Andrew O.M.
Publicado 2018