Search Results - "Ruivenkamp Claudia A L"

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome by 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

“…Gijs Santen and colleagues report mutations in the SWI/SNF subunit gene ARID1B in Coffin-Siris syndrome. We identified de novo truncating mutations in ARID1B…”
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Digital PCR validates 8q dosage as prognostic tool in uveal melanoma by Versluis, Mieke, de Lange, Mark J, van Pelt, Sake I, Ruivenkamp, Claudia A L, Kroes, Wilma G M, Cao, Jinfeng, Jager, Martine J, Luyten, Gre P M, van der Velden, Pieter A

“…Uveal melanoma (UM) development and progression is correlated with specific molecular changes. Recurrent mutations in GNAQ and GNA11 initiate UM development…”
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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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Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature by 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

“…We previously associated HIST1H1E mutations causing Rahman syndrome with a specific genome-wide methylation pattern. Methylome analysis from peripheral blood…”
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MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature by Wit, Jan M, Oostdijk, Wilma, Losekoot, Monique, van Duyvenvoorde, Hermine A, Ruivenkamp, Claudia A L, Kant, Sarina G

“…The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has…”
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Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome by Albers, Cornelis A, Paul, Dirk S, Schulze, Harald, Freson, Kathleen, Stephens, Jonathan C, Smethurst, Peter A, Jolley, Jennifer D, Cvejic, Ana, Kostadima, Myrto, Bertone, Paul, Breuning, Martijn H, Debili, Najet, Deloukas, Panos, Favier, Rémi, Fiedler, Janine, Hobbs, Catherine M, Huang, Ni, Hurles, Matthew E, Kiddle, Graham, Krapels, Ingrid, Nurden, Paquita, Ruivenkamp, Claudia A L, Sambrook, Jennifer G, Smith, Kenneth, Stemple, Derek L, Strauss, Gabriele, Thys, Chantal, van Geet, Chris, Newbury-Ecob, Ruth, Ouwehand, Willem H, Ghevaert, Cedric

“…Cornelis Albers, Cedric Ghevaert and colleagues report that a majority of thrombocytopenia with absent radii (TAR) syndrome cases are caused by compound…”
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Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization by DeScipio, Cheryl, Conlin, Laura, Rosenfeld, Jill, Tepperberg, James, Pasion, Romela, Patel, Ankita, McDonald, Marie T., Aradhya, Swaroop, Ho, Darlene, Goldstein, Jennifer, McGuire, Marianne, Mulchandani, Surabhi, Medne, Livija, Rupps, Rosemarie, Serrano, Alvaro H., Thorland, Erik C., Tsai, Anne C.-H., Hilhorst-Hofstee, Yvonne, Ruivenkamp, Claudia A.L., Van Esch, Hilde, Addor, Marie-Claude, Martinet, Danielle, Mason, Thornton B.A., Clark, Dinah, Spinner, Nancy B., Krantz, Ian D.

“…We describe 19 unrelated individuals with submicroscopic deletions involving 10p15.3 characterized by chromosomal microarray (CMA). Interestingly, to our…”
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From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care by 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.

“…Purpose Exome sequencing (ES) is an efficient tool to diagnose genetic disorders postnatally. Recent studies show that it may have a considerable diagnostic…”
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Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context by van Slobbe, Michelle, van Haeringen, Arie, Vissers, Lisenka E. L. M., Bijlsma, Emilia K., Rutten, Julie W., Suerink, Manon, Nibbeling, Esther A. R., Ruivenkamp, Claudia A. L., Koene, Saskia

“…This study aims to inform future genetic reanalysis management by evaluating the yield of whole-exome sequencing (WES) reanalysis in standard patient care in…”
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Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement by Sun, Yu, Bak, Beata, Schoenmakers, Nadia, van Trotsenburg, A S Paul, Oostdijk, Wilma, Voshol, Peter, Cambridge, Emma, White, Jacqueline K, le Tissier, Paul, Gharavy, S Neda Mousavy, Martinez-Barbera, Juan P, Stokvis-Brantsma, Wilhelmina H, Vulsma, Thomas, Kempers, Marlies J, Persani, Luca, Campi, Irene, Bonomi, Marco, Beck-Peccoz, Paolo, Zhu, Hongdong, Davis, Timothy M E, Hokken-Koelega, Anita C S, Del Blanco, Daria Gorbenko, Rangasami, Jayanti J, Ruivenkamp, Claudia A L, Laros, Jeroen F J, Kriek, Marjolein, Kant, Sarina G, Bosch, Cathy A J, Biermasz, Nienke R, Appelman-Dijkstra, Natasha M, Corssmit, Eleonora P, Hovens, Guido C J, Pereira, Alberto M, den Dunnen, Johan T, Wade, Michael G, Breuning, Martijn H, Hennekam, Raoul C, Chatterjee, Krishna, Dattani, Mehul T, Wit, Jan M, Bernard, Daniel J

“…Daniel Bernard, Jan Wit, Mehul Dattani, Krishna Chatterjee and colleagues show that mutations in IGSF1 cause a new X-linked syndrome characterized by central…”
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome by Dauwerse, Johannes G, Dixon, Jill, Seland, Saskia, Ruivenkamp, Claudia A L, van Haeringen, Arie, Hoefsloot, Lies H, Peters, Dorien J M, Boers, Agnes Clement-de, Daumer-Haas, Cornelia, Maiwald, Robert, Zweier, Christiane, Kerr, Bronwyn, Cobo, Ana M, Toral, Joaquín F, Hoogeboom, A Jeannette M, Lohmann, Dietmar R, Hehr, Ute, Dixon, Michael J, Breuning, Martijn H, Wieczorek, Dagmar

“…We identified a deletion of a gene encoding a subunit of RNA polymerases I and III, POLR1D, in an individual with Treacher Collins syndrome (TCS)…”
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Repurposing of Diagnostic Whole Exome Sequencing Data of 1,583 Individuals for Clinical Pharmacogenetics by 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.

“…For ~ 80 drugs, widely recognized pharmacogenetics dosing guidelines are available. However, the use of these guidelines in clinical practice remains limited…”
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Most lung and colon cancer susceptibility genes are pair-wise linked in mice, humans and rats by Quan, Lei, Stassen, Alphons P M, Ruivenkamp, Claudia A L, van Wezel, Tom, Fijneman, Remond J A, Hutson, Alan, Kakarlapudi, Neelima, Hart, Augustinus A M, Demant, Peter

“…Genetic predisposition controlled by susceptibility quantitative trait loci (QTLs) contributes to a large proportion of common cancers. Studies of genetics of…”
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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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Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy by 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

“…Autosomal dominant variants in LDB3 (also known as ZASP), encoding the PDZ-LIM domain-binding factor, have been linked to a late onset phenotype of…”
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ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature by 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

“…Zhu‐Tokita‐Takenouchi‐Kim (ZTTK) syndrome is caused by de novo loss‐of‐function variants in the SON gene (MIM #617140). This multisystemic disorder is…”
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Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study by Atmar, Khaled, Ruivenkamp, Claudia A L, Hooimeijer, Louise, Nibbeling, Esther A R, Eckhardt, Corien L, Huisman, Elise J, Lankester, Arjan C, Bartels, Marije, Santen, Gijs W E, Smiers, Frans J, van der Burg, Mirjam, Mohseny, Alexander B

“…Severe multilineage cytopenia in childhood caused by bone marrow failure (BMF) often represents a serious condition requiring specific management. Patients are…”
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Prognostic parameters in uveal melanoma and their association with BAP1 expression by van Essen, T Huibertus, van Pelt, Sake I, Versluis, Mieke, Bronkhorst, Inge H G, van Duinen, Sjoerd G, Marinkovic, Marina, Kroes, Wilma G M, Ruivenkamp, Claudia A L, Shukla, Shruti, de Klein, Annelies, Kiliç, Emine, Harbour, J William, Luyten, Gregorius P M, van der Velden, Pieter A, Verdijk, Rob M, Jager, Martine J

“…To determine whether BAP1 gene and protein expression associates with different prognostic parameters in uveal melanoma and whether BAP1 expression correctly…”
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Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders by Sollis, Elliot, Deriziotis, Pelagia, Saitsu, Hirotomo, Miyake, Noriko, Matsumoto, Naomichi, Hoffer, Mariëtte J.V., Ruivenkamp, Claudia A.L., Alders, Mariëlle, Okamoto, Nobuhiko, Bijlsma, Emilia K., Plomp, Astrid S., Fisher, Simon E.

“…The closely related paralogues FOXP2 and FOXP1 encode transcription factors with shared functions in the development of many tissues, including the brain…”
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Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories by Weiss, Marjan M., Van der Zwaag, Bert, Jongbloed, Jan D. H., Vogel, Maartje J., Brüggenwirth, Hennie T., Lekanne Deprez, Ronald H., Mook, Olaf, Ruivenkamp, Claudia A. L., van Slegtenhorst, Marjon A., van den Wijngaard, Arthur, Waisfisz, Quinten, Nelen, Marcel R., van der Stoep, Nienke

“…ABSTRACT Next‐generation sequencing (NGS) methods are being adopted by genome diagnostics laboratories worldwide. However, implementing NGS‐based tests…”
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