Search Results - "Santen, Gijs We"

Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment by Celen, Cemre, Chuang, Jen-Chieh, Luo, Xin, Nijem, Nadine, Walker, Angela K, Chen, Fei, Zhang, Shuyuan, Chung, Andrew S, Nguyen, Liem H, Nassour, Ibrahim, Budhipramono, Albert, Sun, Xuxu, Bok, Levinus A, McEntagart, Meriel, Gevers, Evelien F, Birnbaum, Shari G, Eisch, Amelia J, Powell, Craig M, Ge, Woo-Ping, Santen, Gijs We, Chahrour, Maria, Zhu, Hao

“…Sequencing studies have implicated haploinsufficiency of , a SWI/SNF chromatin-remodeling subunit, in short stature (Yu et al., 2015), autism spectrum disorder…”
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Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study by 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

“…variants (DNVs) are currently not routinely evaluated as part of diagnostic whole exome sequencing (WES) analysis in patients with suspected inborn errors of…”
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Two SMARCAD1 Variants Causing Basan Syndrome in a Canadian and a Dutch Family by Elhaji, Youssef, van Henten, Tessa M.A., Ruivenkamp, Claudia A.L., Nightingale, Mathew, Santen, Gijs WE, Vos, Lydia E., Hull, Peter R.

“…Basan syndrome is an autosomal dominant genodermatosis characterized by congenital adermatoglyphia, transient congenital facial milia, neonatal acral bullae,…”
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Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome? by 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.

“…ABSTRACT Although the benefits of next‐generation sequencing (NGS) for the diagnosis of heterogeneous diseases such as intellectual disability (ID) are…”
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Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis by 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.

“…DNA replication precisely duplicates the genome to ensure stable inheritance of genetic information. Impaired licensing of origins of replication during the G1…”
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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families by Fountain, Michael D., Aten, Emmelien, Cho, Megan T., Juusola, Jane, Walkiewicz, Magdalena A., Ray, Joseph W., Xia, Fan, Yang, Yaping, Graham, Brett H., Bacino, Carlos A., Potocki, Lorraine, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Mancias, Pedro, Northrup, Hope, Kukolich, Mary K., Weiss, Marjan M., van Ravenswaaij-Arts, Conny M.A., Mathijssen, Inge B., Levesque, Sebastien, Meeks, Naomi, Rosenfeld, Jill A., Lemke, Danielle, Hamosh, Ada, Lewis, Suzanne K., Race, Simone, Stewart, Laura L., Hay, Beverly, Lewis, Andrea M., Guerreiro, Rita L., Bras, Jose T., Martins, Marcia P., Derksen-Lubsen, Gerarda, Peeters, Els, Stumpel, Connie, Stegmann, Sander, Bok, Levinus A., Santen, Gijs W.E., Schaaf, Christian P.

“…Truncating mutations in the maternally imprinted, paternally expressed gene MAGEL2, which is located in the Prader-Willi critical region 15q11–13, have…”
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Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy by Lahrouchi, Najim, Postma, Alex V, Salazar, Christian M, De Laughter, Daniel M, Tjong, Fleur, Piherová, Lenka, Bowling, Forrest Z, Zimmerman, Dominic, Lodder, Elisabeth M, Ta-Shma, Asaf, Perles, Zeev, Beekman, Leander, Ilgun, Aho, Gunst, Quinn, Hababa, Mariam, Škorić-Milosavljević, Doris, Stránecký, Viktor, Tomek, Viktor, de Knijff, Peter, de Leeuw, Rick, Robinson, Jamille Y, Burn, Sabrina C, Mustafa, Hiba, Ambrose, Matthew, Moss, Timothy, Jacober, Jennifer, Niyazov, Dmitriy M, Wolf, Barry, Kim, Katherine H, Cherny, Sara, Rousounides, Andreas, Aristidou-Kallika, Aphrodite, Tanteles, George, Ange-Line, Bruel, Denommé-Pichon, Anne-Sophie, Francannet, Christine, Ortiz, Damara, Haak, Monique C, Ten Harkel, Arend D.J., Manten, Gwendolyn Tr, Dutman, Annemiek C, Bouman, Katelijne, Magliozzi, Monia, Radio, Francesca Clementina, Santen, Gijs We, Herkert, Johanna C, Brown, H Alex, Elpeleg, Orly, van den Hoff, Maurice Jb, Mulder, Barbara, Airola, Michael V, Kmoch, Stanislav, Barnett, Joey V, Clur, Sally-Ann, Frohman, Michael A, Bezzina, Connie R

“…Congenital heart disease is the most common type of birth defect, accounting for one-third of all congenital anomalies. Using whole-exome sequencing of 2718…”
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ESHG Plenary Debate 2015: Should Clinical Geneticists have their Genome Sequenced? by Santen, Gijs W.E.

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The ARID1B phenotype: What we have learned so far by Santen, Gijs W.E., Clayton-Smith, Jill

“…Evidence is now accumulating from a number of sequencing studies that ARID1B not only appears to be one of the most frequently mutated intellectual disability…”
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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 by 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

“…Background: C-type natriuretic peptide (CNP)/natriuretic peptide receptor 2 (NPR2) signaling is essential for long bone growth. Enhanced CNP production caused…”
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Finding Suitable Clinical Endpoints for a Potential Treatment of a Rare Genetic Disease: the Case of ARID1B by 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.

“…There is a lack of reliable, repeatable, and non-invasive clinical endpoints when investigating treatments for intellectual disability (ID). The aim of this…”
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A functional assay to classify ZBTB24 missense variants of unknown significance by Wu, Haoyu, Vonk, Kelly K. D., Maarel, Silvère M., Santen, Gijs W.E., Daxinger, Lucia

“…Increasing use of next‐generation sequencing technologies in clinical diagnostics allows large‐scale discovery of genetic variants, but also results in…”
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Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease) by Sun, Yu, Almomani, Rowida, Breedveld, Guido J., Santen, Gijs W.E., Aten, Emmelien, Lefeber, Dirk J., Hoff, Jorrit I., Brusse, Esther, Verheijen, Frans W., Verdijk, Rob M., Kriek, Marjolein, Oostra, Ben, Breuning, Martijn H., Losekoot, Monique, den Dunnen, Johan T., van de Warrenburg, Bart P., Maat-Kievit, Anneke J.A.

“…ABSTRACT Spinocerebellar ataxias are phenotypically, neuropathologically, and genetically heterogeneous. The locus of autosomal recessive spinocerebellar…”
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Imprinting: the Achilles heel of trio-based exome sequencing by Aten, Emmelien, Fountain, Michael D., van Haeringen, Arie, Schaaf, Christian P., Santen, Gijs W.E.

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Morphine Glucuronidation in Preterm Neonates, Infants and Children Younger than 3 Years by 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

“…Background and objective A considerable amount of drug use in children is still unlicensed or off-label. In order to derive rational dosing schemes, the…”
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A novel variant of FGFR3 causes proportionate short stature by 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

“…ObjectiveMutations of the fibroblast growth factor receptor 3 (FGFR3) cause various forms of short stature, of which the least severe phenotype is…”
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Exome Sequencing Identifies A Branch Point Variant in Aarskog-Scott Syndrome by Aten, Emmelien, Sun, Yu, Almomani, Rowida, Santen, Gijs W.E., Messemaker, Tobias, Maas, Saskia M., Breuning, Martijn H., den Dunnen, Johan T.

“…ABSTRACT Aarskog–Scott syndrome (ASS) is a rare disorder with characteristic facial, skeletal, and genital abnormalities. Mutations in the FGD1 gene (Xp11.21)…”
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Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies by Khan, Saadullah, Ullah, Imran, Nasir, Abdul, Meijer, C. Arnoud, Laurense-Bik, Marlies, den Dunnen, Johan T., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J. V., Santen, Gijs W. E., Ahmad, Wasim

“…Postaxial polydactyly (PAP) is one of the most common congenital malformations observed in the general population. However, it can also occur as part of a…”
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Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13 by Tan, Ratna N. G. B., Witlox, Ruben S. G. M., Hilhorst-Hofstee, Yvonne, Peeters-Scholte, Cacha M. P. C. D., den Hollander, Nicolette S., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J.V., Hansson, Kerstin B., van Roosmalen, Mark J., Kloosterman, Wigard P., Santen, Gijs W. E.

“…Copy number variations (CNVs) on the short arm of chromosome 19 are relatively rare. We present a patient with a tandem de novo 3.9 Mb duplication of…”
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GPSM2 and Chudley-McCullough Syndrome: A Dutch Founder Variant Brought to North America by Almomani, Rowida, Sun, Yu, Aten, Emmelien, Hilhorst-Hofstee, Yvonne, Peeters-Scholte, Cacha M.P.C.D., van Haeringen, Arie, Hendriks, Yvonne M.C., den Dunnen, Johan T., Breuning, Martijn H., Kriek, Marjolein, Santen, Gijs W.E.

“…Chudley–McCullough syndrome (CMS) is characterized by profound sensorineural hearing loss and brain anomalies. Variants in GPSM2 have recently been reported as…”
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