Rare disease specialists and clinical pharmacologists unite: Increase collection of longitudinal data!

od Santen, Gijs W.E., Cohen, Adam F.
Wydane w Br J Clin Pharmacol (2019)

SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability

od Santen, Gijs W.E., Kriek, Marjolein, van Attikum, Haico
Wydane 2012

A functional assay to classify ZBTB24 missense variants of unknown significance

od Wu, Haoyu, Vonk, Kelly K. D., van der Maarel, Silvère M., Santen, Gijs W.E., Daxinger, Lucia
Wydane w Hum Mutat (2019)

The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behavior

od Moffat, Jeffrey J., Jung, Eui-Man, Ka, Minhan, Smith, Amanda L., Jeon, Byeong Tak, Santen, Gijs W. E., Kim, Woo-Yang
Wydane w Prog Neuropsychopharmacol Biol Psychiatry (2018)

Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects

od Filatova, Alina, Rey, Linda K., Lechler, Marion B., Schaper, Jörg, Hempel, Maja, Posmyk, Renata, Szczaluba, Krzysztof, Santen, Gijs W. E., Wieczorek, Dagmar, Nuber, Ulrike A.
Wydane w Nat Commun (2019)

Finding Suitable Clinical Endpoints for a Potential Treatment of a Rare Genetic Disease: the Case of ARID1B

od Kruizinga, Matthijs D., Zuiker, Rob G.J.A., Sali, Elif, de Kam, Marieke L., Doll, Robert J., Groeneveld, Geert Jan, Santen, Gijs W.E., Cohen, Adam F.
Wydane w Neurotherapeutics (2020)

Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication

od Koene, Saskia, Peeters‐Scholte, Cacha M. P. C. D., Knijnenburg, Jeroen, de Vries, Linda S., van Scheltema, Phebe N. Adama, Meuwissen, Marije E., Steggerda, Sylke J., Santen, Gijs W. E.
Wydane w Am J Med Genet A (2020)

Repurposing of Diagnostic Whole Exome Sequencing Data of 1,583 Individuals for Clinical Pharmacogenetics

od van der Lee, Maaike, Allard, William G., Bollen, Sander, Santen, Gijs W. E., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J. V., Kriek, Marjolein, Guchelaar, Henk‐Jan, Anvar, Seyed Y., Swen, Jesse J.
Wydane w Clin Pharmacol Ther (2019)

Exome sequencing in families with chronic central serous chorioretinopathy

od Schellevis, Rosa L., van Dijk, Elon H. C., Breukink, Myrte B., Keunen, Jan E. E., Santen, Gijs W. E., Hoyng, Carel B., de Jong, Eiko K., Boon, Camiel J. F., den Hollander, Anneke I.
Wydane w Mol Genet Genomic Med (2019)

Skewed X-inactivation is common in the general female population

od Shvetsova, Ekaterina, Sofronova, Alina, Monajemi, Ramin, Gagalova, Kristina, Draisma, Harmen H. M., White, Stefan J., Santen, Gijs W. E., Chuva de Sousa Lopes, Susana M., Heijmans, Bastiaan T., van Meurs, Joyce, Jansen, Rick, Franke, Lude, Kiełbasa, Szymon M., den Dunnen, Johan T., ‘t Hoen, Peter A. C.
Wydane w Eur J Hum Genet (2018)

The prevalence of genetic diagnoses in fetuses with severe congenital heart defects

od van Nisselrooij, Amber E. L., Lugthart, Malou A., Clur, Sally-Ann, Linskens, Ingeborg H., Pajkrt, Eva, Rammeloo, Lukas A., Rozendaal, Lieke, Blom, Nico A., van Lith, Jan M. M., Knegt, Alida C., Hoffer, Mariëtte J. V., Aten, Emmelien, Santen, Gijs W. E., Haak, Monique C.
Wydane w Genet Med (2020)

PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations

od Oostdijk, Wilma, Idkowiak, Jan, Mueller, Jonathan W., House, Philip J., Taylor, Angela E., O'Reilly, Michael W., Hughes, Beverly A., de Vries, Martine C., Kant, Sarina G., Santen, Gijs W. E., Verkerk, Annemieke J. M. H., Uitterlinden, André G., Wit, Jan M., Losekoot, Monique, Arlt, Wiebke
Wydane w J Clin Endocrinol Metab (2015)

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

od Ciolfi, Andrea, Aref-Eshghi, Erfan, Pizzi, Simone, Pedace, Lucia, Miele, Evelina, Kerkhof, Jennifer, Flex, Elisabetta, Martinelli, Simone, Radio, Francesca Clementina, Ruivenkamp, Claudia A. L., Santen, Gijs W. E., Bijlsma, Emilia, Barge-Schaapveld, Daniela, Ounap, Katrin, Siu, Victoria Mok, Kooy, R. Frank, Dallapiccola, Bruno, Sadikovic, Bekim, Tartaglia, Marco
Wydane w Clin Epigenetics (2020)

Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases

od Rizzuto, Valeria, Koopmann, Tamara T., Blanco-Álvarez, Adoración, Tazón-Vega, Barbara, Idrizovic, Amira, Díaz de Heredia, Cristina, Del Orbe, Rafael, Pampliega, Miriam Vara, Velasco, Pablo, Beneitez, David, Santen, Gijs W. E., Waisfisz, Quinten, Elting, Mariet, Smiers, Frans J. W., de Pagter, Anne J., Kerkhoffs, Jean-Louis H., Harteveld, Cornelis L., Mañú-Pereira, Maria del Mar
Wydane w Front Physiol (2021)

Mutations in TBL1X Are Associated With Central Hypothyroidism

od Heinen, Charlotte A., Losekoot, Monique, Sun, Yu, Watson, Peter J., Fairall, Louise, Joustra, Sjoerd D., Zwaveling-Soonawala, Nitash, Oostdijk, Wilma, van den Akker, Erica L. T., Alders, Mariëlle, Santen, Gijs W. E., van Rijn, Rick R., Dreschler, Wouter A., Surovtseva, Olga V., Biermasz, Nienke R., Hennekam, Raoul C., Wit, Jan M., Schwabe, John W. R., Boelen, Anita, Fliers, Eric, van Trotsenburg, A. S. Paul
Wydane w J Clin Endocrinol Metab (2016)

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

od Lemmers, Richard J.L.F., Tawil, Rabi, Petek, Lisa M., Balog, Judit, Block, Gregory J., Santen, Gijs W.E., Amell, Amanda M., van der Vliet, Patrick J., Almomani, Rowida, Straasheijm, Kirsten R., Krom, Yvonne D., Klooster, Rinse, Sun, Yu, den Dunnen, Johan T., Helmer, Quinta, Donlin-Smith, Colleen M., Padberg, George W., van Engelen, Baziel G.M., de Greef, Jessica C., Aartsma-Rus, Annemieke M., Frants, Rune R., de Visser, Marianne, Desnuelle, Claude, Sacconi, Sabrina, Filippova, Galina N., Bakker, Bert, Bamshad, Michael J., Tapscott, Stephen J., Miller, Daniel G., van der Maarel, Silvère M.
Wydane 2012

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

od Fenwick, Aimee L., Kliszczak, Maciej, Cooper, Fay, Murray, Jennie, Sanchez-Pulido, Luis, Twigg, Stephen R.F., Goriely, Anne, McGowan, Simon J., Miller, Kerry A., Taylor, Indira B., Logan, Clare, Bozdogan, Sevcan, Danda, Sumita, Dixon, Joanne, Elsayed, Solaf M., Elsobky, Ezzat, Gardham, Alice, Hoffer, Mariette J.V., Koopmans, Marije, McDonald-McGinn, Donna M., Santen, Gijs W.E., Savarirayan, Ravi, de Silva, Deepthi, Vanakker, Olivier, Wall, Steven A., Wilson, Louise C., Yuregir, Ozge Ozalp, Zackai, Elaine H., Ponting, Chris P., Jackson, Andrew P., Wilkie, Andrew O.M., Niedzwiedz, Wojciech, Bicknell, Louise S.
Wydane w Am J Hum Genet (2016)

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

od Yan, Kezhi, Rousseau, Justine, Littlejohn, Rebecca Okashah, Kiss, Courtney, Lehman, Anna, Rosenfeld, Jill A., Stumpel, Constance T.R., Stegmann, Alexander P.A., Robak, Laurie, Scaglia, Fernando, Nguyen, Thi Tuyet Mai, Fu, He, Ajeawung, Norbert F., Camurri, Maria Vittoria, Li, Lin, Gardham, Alice, Panis, Bianca, Almannai, Mohammed, Sacoto, Maria J. Guillen, Baskin, Berivan, Ruivenkamp, Claudia, Xia, Fan, Bi, Weimin, Cho, Megan T., Potjer, Thomas P., Santen, Gijs W.E., Parker, Michael J., Canham, Natalie, McKinnon, Margaret, Potocki, Lorraine, MacKenzie, Jennifer J., Roeder, Elizabeth R., Campeau, Philippe M., Yang, Xiang-Jiao
Wydane w Am J Hum Genet (2017)

Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains

od Geisheker, Madeleine R., Heymann, Gabriel, Wang, Tianyun, Coe, Bradley P., Turner, Tychele N., Stessman, Holly A.F., Hoekzema, Kendra, Kvarnung, Malin, Shaw, Marie, Friend, Kathryn, Liebelt, Jan, Barnett, Christopher, Thompson, Elizabeth M., Haan, Eric, Guo, Hui, Anderlid, Britt-Marie, Nordgren, Ann, Lindstrand, Anna, Vandeweyer, Geert, Alberti, Antonino, Avola, Emanuela, Vinci, Mirella, Giusto, Stefania, Pramparo, Tiziano, Pierce, Karen, Nalabolu, Srinivasa, Michaelson, Jacob J., Sedlacek, Zdenek, Santen, Gijs W.E., Peeters, Hilde, Hakonarson, Hakon, Courchesne, Eric, Romano, Corrado, Kooy, R. Frank, Bernier, Raphael A., Nordenskjöld, Magnus, Gecz, Jozef, Xia, Kun, Zweifel, Larry S., Eichler, Evan E.
Wydane w Nat Neurosci (2017)

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

od Lugtenberg, Dorien, Reijnders, Margot R F, Fenckova, Michaela, Bijlsma, Emilia K, Bernier, Raphael, van Bon, Bregje W M, Smeets, Eric, Vulto-van Silfhout, Anneke T, Bosch, Danielle, Eichler, Evan E, Mefford, Heather C, Carvill, Gemma L, Bongers, Ernie M H F, Schuurs-Hoeijmakers, Janneke HM, Ruivenkamp, Claudia A, Santen, Gijs W E, van den Maagdenberg, Arn M J M, Peeters-Scholte, Cacha M P C D, Kuenen, Sabine, Verstreken, Patrik, Pfundt, Rolph, Yntema, Helger G, de Vries, Petra F, Veltman, Joris A, Hoischen, Alexander, Gilissen, Christian, de Vries, Bert B A, Schenck, Annette, Kleefstra, Tjitske, Vissers, Lisenka E L M
Wydane w Eur J Hum Genet (2016)