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Pagliaroli, Luca, Porazzi, Patrizia, Curtis, Alyxandra T., Scopa, Chiara, Mikkers, Harald M. M., Freund, Christian, Daxinger, Lucia, Deliard, Sandra, Welsh, Sarah A., Offley, Sarah, Ott, Connor A., Calabretta, Bruno, Brugmann, Samantha A., Santen, Gijs W. E., Trizzino, Marco
Published in Nature communications (09.11.2021)
Published in Nature communications (09.11.2021)
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An Activating Mutation in the Kinase Homology Domain of the Natriuretic Peptide Receptor-2 Causes Extremely Tall Stature Without Skeletal Deformities
Hannema, Sabine E, van Duyvenvoorde, Hermine A, Premsler, Thomas, Yang, Ruey-Bing, Mueller, Thomas D, Gassner, Birgit, Oberwinkler, Heike, Roelfsema, Ferdinand, Santen, Gijs W. E, Prickett, Timothy, Kant, Sarina G, Verkerk, Annemieke J. M. H, Uitterlinden, André G, Espiner, Eric, Ruivenkamp, Claudia A. L, Oostdijk, Wilma, Pereira, Alberto M, Losekoot, Monique, Kuhn, Michaela, Wit, Jan M
Published in The journal of clinical endocrinology and metabolism (01.12.2013)
Published in The journal of clinical endocrinology and metabolism (01.12.2013)
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Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature
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
Published in Clinical epigenetics (07.01.2020)
Published in Clinical epigenetics (07.01.2020)
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Morphine Glucuronidation in Preterm Neonates, Infants and Children Younger than 3 Years
Knibbe, Catherijne A. J., Krekels, Elke H. J., van den Anker, Johannes N., DeJongh, Joost, Santen, Gijs W. E., van Dijk, Monique, Simons, Sinno H. P., van Lingen, Richard A., Jacqz-Aigrain, Evelyne M., Danhof, Meindert, Tibboel, Dick
Published in Clinical pharmacokinetics (01.01.2009)
Published in Clinical pharmacokinetics (01.01.2009)
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A novel variant of FGFR3 causes proportionate short stature
Kant, Sarina G, Cervenkova, Iveta, Balek, Lukas, Trantirek, Lukas, Santen, Gijs W E, de Vries, Martine C, van Duyvenvoorde, Hermine A, van der Wielen, Michiel J R, Verkerk, Annemieke J M H, Uitterlinden, André G, Hannema, Sabine E, Wit, Jan M, Oostdijk, Wilma, Krejci, Pavel, Losekoot, Monique
Published in European journal of endocrinology (01.06.2015)
Published in European journal of endocrinology (01.06.2015)
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Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study
Hebert, Anne, Simons, Annet, Schuurs-Hoeijmakers, Janneke H M, Koenen, Hans J P M, Zonneveld-Huijssoon, Evelien, Henriet, Stefanie S V, Schatorjé, Ellen J H, Hoppenreijs, Esther P A H, Leenders, Erika K S M, Janssen, Etienne J M, Santen, Gijs W E, de Munnik, Sonja A, van Reijmersdal, Simon V, van Rijssen, Esther, Kersten, Simone, Netea, Mihai G, Smeets, Ruben L, van de Veerdonk, Frank L, Hoischen, Alexander, van der Made, Caspar I
Published in eLife (17.10.2022)
Published in eLife (17.10.2022)
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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
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
Published in Nature genetics (01.12.2012)
Published in Nature genetics (01.12.2012)
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Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
Logan, Clare V, Szabadkai, György, Sharpe, Jenny A, Parry, David A, Torelli, Silvia, Childs, Anne-Marie, Kriek, Marjolein, Phadke, Rahul, Johnson, Colin A, Roberts, Nicola Y, Bonthron, David T, Pysden, Karen A, Whyte, Tamieka, Munteanu, Iulia, Foley, A Reghan, Wheway, Gabrielle, Szymanska, Katarzyna, Natarajan, Subaashini, Abdelhamed, Zakia A, Morgan, Joanne E, Roper, Helen, Santen, Gijs W E, Niks, Erik H, van der Pol, W Ludo, Lindhout, Dick, Raffaello, Anna, De Stefani, Diego, den Dunnen, Johan T, Sun, Yu, Ginjaar, Ieke, Sewry, Caroline A, Hurles, Matthew, Rizzuto, Rosario, Duchen, Michael R, Muntoni, Francesco, Sheridan, Eamonn
Published in Nature genetics (01.02.2014)
Published in Nature genetics (01.02.2014)
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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
Santen, Gijs W E, Aten, Emmelien, Sun, Yu, Almomani, Rowida, Gilissen, Christian, Nielsen, Maartje, Kant, Sarina G, Snoeck, Irina N, Peeters, Els A J, Hilhorst-Hofstee, Yvonne, Wessels, Marja W, den Hollander, Nicolette S, Ruivenkamp, Claudia A L, van Ommen, Gert-Jan B, Breuning, Martijn H, den Dunnen, Johan T, van Haeringen, Arie, Kriek, Marjolein
Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
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Mutations in TBL1X Are Associated With Central Hypothyroidism
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
Published in The journal of clinical endocrinology and metabolism (01.12.2016)
Published in The journal of clinical endocrinology and metabolism (01.12.2016)
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From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care
de Koning, Maayke A., Haak, Monique C., Adama van Scheltema, Phebe N., Peeters-Scholte, Cacha M. P. C. D., Koopmann, Tamara T., Nibbeling, Esther A. R., Aten, Emmelien, den Hollander, Nicolette S., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J. V., Santen, Gijs W. E.
Published in Genetics in medicine (01.10.2019)
Published in Genetics in medicine (01.10.2019)
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Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals
Dingemans, Alexander J. M., Jansen, Sandra, van Reeuwijk, Jeroen, de Leeuw, Nicole, Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke, van Bon, Bregje W., Marcelis, Carlo, Ockeloen, Charlotte W., Willemsen, Marjolein, van der Sluijs, Pleuntje J., Santen, Gijs W. E., Kooy, R. Frank, Vulto-van Silfhout, Anneke T., Kleefstra, Tjitske, Koolen, David A., Vissers, Lisenka E. L. M., de Vries, Bert B. A.
Published in Nature medicine (01.07.2024)
Published in Nature medicine (01.07.2024)
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Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects
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.
Published in Nature communications (04.07.2019)
Published in Nature communications (04.07.2019)
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Repurposing of Diagnostic Whole Exome Sequencing Data of 1,583 Individuals for Clinical Pharmacogenetics
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.
Published in Clinical pharmacology and therapeutics (01.03.2020)
Published in Clinical pharmacology and therapeutics (01.03.2020)
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PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations
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
Published in The journal of clinical endocrinology and metabolism (01.04.2015)
Published in The journal of clinical endocrinology and metabolism (01.04.2015)
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Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?
Sun, Yu, Ruivenkamp, Claudia A.L., Hoffer, Mariëtte J.V., Vrijenhoek, Terry, Kriek, Marjolein, van Asperen, Christi J., den Dunnen, Johan T., Santen, Gijs W.E.
Published in Human mutation (01.06.2015)
Published in Human mutation (01.06.2015)
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Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy
Koopmann, Tamara T, Jamshidi, Yalda, Naghibi-Sistani, Mohammad, van der Klift, Heleen M, Birjandi, Hassan, Al-Hassnan, Zuhair, Alwadai, Abdullah, Zifarelli, Giovanni, Karimiani, Ehsan G, Sedighzadeh, Sahar, Bahreini, Amir, Nouri, Nayereh, Peter, Merlene, Watanabe, Kyoko, van Duyvenvoorde, Hermine A, Ruivenkamp, Claudia A L, Teunissen, Aalbertine K K, Ten Harkel, Arend D J, van Duinen, Sjoerd G, Haak, Monique C, Prada, Carlos E, Santen, Gijs W E, Maroofian, Reza
Published in European journal of human genetics : EJHG (01.01.2023)
Published in European journal of human genetics : EJHG (01.01.2023)
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ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature
Kushary, Sulagna Tina, Revah‐Politi, Anya, Barua, Subit, Ganapathi, Mythily, Accogli, Andrea, Aggarwal, Vimla, Brunetti‐Pierri, Nicola, Cappuccio, Gerarda, Capra, Valeria, Fagerberg, Christina R., Gazdagh, Gabriella, Guzman, Edwin, Hadonou, Medard, Harrison, Victoria, Havelund, Kathrine, Iancu, Daniela, Kraus, Alison, Lippa, Natalie C., Mansukhani, Mahesh, McBrian, Danielle, McEntagart, Meriel, Pacio‐Míguez, Marta, Palomares‐Bralo, María, Pottinger, Carrie, Ruivenkamp, Claudia A. L., Sacco, Oliviero, Santen, Gijs W. E., Santos‐Simarro, Fernando, Scala, Marcello, Short, John, Sørensen, Kristina P., Woods, Christopher G., Anyane Yeboa, Kwame
Published in American journal of medical genetics. Part A (01.12.2021)
Published in American journal of medical genetics. Part A (01.12.2021)
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Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis
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.
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
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Response to Thibodeau and Langlois
van Nisselrooij, Amber E. L., Aten, Emmelien, Santen, Gijs W. E., Haak, Monique C.
Published in Genetics in medicine (2021)
Published in Genetics in medicine (2021)
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