Mutation update on the CHD7 gene involved in CHARGE syndrome
Janssen, Nicole, Bergman, Jorieke E. H., Swertz, Morris A., Tranebjaerg, Lisbeth, Lodahl, Marianne, Schoots, Jeroen, Hofstra, Robert M. W., van Ravenswaaij-Arts, Conny M. A., Hoefsloot, Lies H.
Published in Human mutation (01.08.2012)
Published in Human mutation (01.08.2012)
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SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
Vlaskamp, Danique R M, Shaw, Benjamin J, Burgess, Rosemary, Mei, Davide, Montomoli, Martino, Xie, Han, Myers, Candace T, Bennett, Mark F, XiangWei, Wenshu, Williams, Danielle, Maas, Saskia M, Brooks, Alice S, Mancini, Grazia M S, van de Laar, Ingrid M B H, van Hagen, Johanna M, Ware, Tyson L, Webster, Richard I, Malone, Stephen, Berkovic, Samuel F, Kalnins, Renate M, Sicca, Federico, Korenke, G Christoph, van Ravenswaaij-Arts, Conny M A, Hildebrand, Michael S, Mefford, Heather C, Jiang, Yuwu, Guerrini, Renzo, Scheffer, Ingrid E
Published in Neurology (08.01.2019)
Published in Neurology (08.01.2019)
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Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
Auer-Grumbach, Michaela, Olschewski, Andrea, Papi, Lea, Kremer, Hannie, McEntagart, Meriel E, Uhrig, Sabine, Fischer, Carina, Fröhlich, Eleonore, Bálint, Zoltán, Tang, Bi, Strohmaier, Heimo, Lochmüller, Hanns, Schlotter-Weigel, Beate, Senderek, Jan, Krebs, Angelika, Dick, Katherine J, Petty, Richard, Longman, Cheryl, Anderson, Neil E, Padberg, George W, Schelhaas, Helenius J, van Ravenswaaij-Arts, Conny M A, Pieber, Thomas R, Crosby, Andrew H, Guelly, Christian
Published in Nature genetics (01.02.2010)
Published in Nature genetics (01.02.2010)
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Journal Article
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1
Engwerda, Aafke, Kerstjens-Frederikse, Wilhelmina S, Corsten-Janssen, Nicole, Dijkhuizen, Trijnie, van Ravenswaaij-Arts, Conny M A
Published in Orphanet journal of rare diseases (19.03.2023)
Published in Orphanet journal of rare diseases (19.03.2023)
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The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review
Rraku, Eleana, Kerstjens-Frederikse, Wilhelmina S, Swertz, Morris A, Dijkhuizen, Trijnie, van Ravenswaaij-Arts, Conny M A, Engwerda, Aafke
Published in Orphanet journal of rare diseases (24.03.2023)
Published in Orphanet journal of rare diseases (24.03.2023)
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Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis
Deelen, Patrick, van Dam, Sipko, Herkert, Johanna C, Karjalainen, Juha M, Brugge, Harm, Abbott, Kristin M, van Diemen, Cleo C, van der Zwaag, Paul A, Gerkes, Erica H, Zonneveld-Huijssoon, Evelien, Boer-Bergsma, Jelkje J, Folkertsma, Pytrik, Gillett, Tessa, van der Velde, K Joeri, Kanninga, Roan, van den Akker, Peter C, Jan, Sabrina Z, Hoorntje, Edgar T, Te Rijdt, Wouter P, Vos, Yvonne J, Jongbloed, Jan D H, van Ravenswaaij-Arts, Conny M A, Sinke, Richard, Sikkema-Raddatz, Birgit, Kerstjens-Frederikse, Wilhelmina S, Swertz, Morris A, Franke, Lude
Published in Nature communications (28.06.2019)
Published in Nature communications (28.06.2019)
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Diagnostic interpretation of array data using public databases and internet sources
de Leeuw, Nicole, Dijkhuizen, Trijnie, Hehir-Kwa, Jayne Y., Carter, Nigel P., Feuk, Lars, Firth, Helen V., Kuhn, Robert M., Ledbetter, David H., Martin, Christa Lese, van Ravenswaaij-Arts, Conny M. A., Scherer, Steven W., Shams, Soheil, Van Vooren, Steven, Sijmons, Rolf, Swertz, Morris, Hastings, Ros
Published in Human mutation (01.06.2012)
Published in Human mutation (01.06.2012)
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Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
Zanoni, Paolo, Steindl, Katharina, Sengupta, Deepanwita, Joset, Pascal, Bahr, Angela, Sticht, Heinrich, Lang-Muritano, Mariarosaria, van Ravenswaaij-Arts, Conny M.A., Shinawi, Marwan, Andrews, Marisa, Attie-Bitach, Tania, Maystadt, Isabelle, Belnap, Newell, Benoit, Valerie, Delplancq, Geoffroy, de Vries, Bert B.A., Grotto, Sarah, Lacombe, Didier, Larson, Austin, Mourmans, Jeroen, Õunap, Katrin, Petrilli, Giulia, Pfundt, Rolph, Ramsey, Keri, Blok, Lot Snijders, Tsatsaris, Vassilis, Vitobello, Antonio, Faivre, Laurence, Wheeler, Patricia G., Wevers, Marijke R., Wojcik, Monica, Zweier, Markus, Gozani, Or, Rauch, Anita
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
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CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance
Schulz, Yvonne, Wehner, Peter, Opitz, Lennart, Salinas-Riester, Gabriela, Bongers, Ernie M. H. F., van Ravenswaaij-Arts, Conny M. A., Wincent, Josephine, Schoumans, Jacqueline, Kohlhase, Jürgen, Borchers, Annette, Pauli, Silke
Published in Human genetics (01.08.2014)
Published in Human genetics (01.08.2014)
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The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports
Engwerda, Aafke, Frentz, Barbara, den Ouden, A Lya, Flapper, Boudien C T, Swertz, Morris A, Gerkes, Erica H, Plantinga, Mirjam, Dijkhuizen, Trijnie, van Ravenswaaij-Arts, Conny M A
Published in European journal of human genetics : EJHG (01.10.2018)
Published in European journal of human genetics : EJHG (01.10.2018)
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Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability
Engwerda, Aafke, Frentz, Barbara, Rraku, Eleana, de Souza, Nadia F Simoes, Swertz, Morris A, Plantinga, Mirjam, Kerstjens-Frederikse, Wilhelmina S, Ranchor, Adelita V, van Ravenswaaij-Arts, Conny M A
Published in Orphanet journal of rare diseases (19.03.2023)
Published in Orphanet journal of rare diseases (19.03.2023)
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Journal Article
Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer
de Voer, Richarda M, Geurts van Kessel, Ad, Weren, Robbert D.A, Ligtenberg, Marjolijn J.L, Smeets, Dominique, Fu, Lei, Vreede, Lilian, Kamping, Eveline J, Verwiel, Eugène T.P, Hahn, Marc–Manuel, Ariaans, Maayke, Spruijt, Liesbeth, van Essen, Ton, Houge, Gunnar, Schackert, Hans K, Sheng, Jian Q, Venselaar, Hanka, van Ravenswaaij–Arts, Conny M.A, van Krieken, J. Han J.M, Hoogerbrugge, Nicoline, Kuiper, Roland P
Published in Gastroenterology (New York, N.Y. 1943) (01.09.2013)
Published in Gastroenterology (New York, N.Y. 1943) (01.09.2013)
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Journal Article
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility
Engwerda, Aafke, Leenders, Erika K S M, Frentz, Barbara, Terhal, Paulien A, Löhner, Katharina, de Vries, Bert B A, Dijkhuizen, Trijnie, Vos, Yvonne J, Rinne, Tuula, van den Berg, Maarten P, Roofthooft, Marc T R, Deelen, Patrick, van Ravenswaaij-Arts, Conny M A, Kerstjens-Frederikse, Wilhelmina S
Published in European journal of human genetics : EJHG (01.11.2021)
Published in European journal of human genetics : EJHG (01.11.2021)
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Journal Article
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity
Witteveen, Josefine S, Willemsen, Marjolein H, Dombroski, Thaís C D, van Bakel, Nick H M, Nillesen, Willy M, van Hulten, Josephus A, Jansen, Eric J R, Verkaik, Dave, Veenstra-Knol, Hermine E, van Ravenswaaij-Arts, Conny M A, Wassink-Ruiter, Jolien S Klein, Vincent, Marie, David, Albert, Le Caignec, Cedric, Schieving, Jolanda, Gilissen, Christian, Foulds, Nicola, Rump, Patrick, Strom, Tim, Cremer, Kirsten, Zink, Alexander M, Engels, Hartmut, de Munnik, Sonja A, Visser, Jasper E, Brunner, Han G, Martens, Gerard J M, Pfundt, Rolph, Kleefstra, Tjitske, Kolk, Sharon M
Published in Nature genetics (01.08.2016)
Published in Nature genetics (01.08.2016)
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Journal Article
Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements
Froyen, Guy, Belet, Stefanie, Martinez, Francisco, Santos-Rebouças, Cíntia Barros, Declercq, Matthias, Verbeeck, Jelle, Donckers, Lene, Berland, Siren, Mayo, Sonia, Rosello, Monica, Pimentel, Márcia Mattos Gonçalves, Fintelman-Rodrigues, Natalia, Hovland, Randi, Rodrigues dos Santos, Suely, Raymond, F. Lucy, Bose, Tulika, Corbett, Mark A., Sheffield, Leslie, van Ravenswaaij-Arts, Conny M.A., Dijkhuizen, Trijnie, Coutton, Charles, Satre, Veronique, Siu, Victoria, Marynen, Peter
Published in American journal of human genetics (10.08.2012)
Published in American journal of human genetics (10.08.2012)
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Journal Article
The introduction of arrays in prenatal diagnosis: A special challenge
Vetro, Annalisa, Bouman, Katelijne, Hastings, Ros, McMullan, Dominic J., Vermeesch, Joris R., Miller, Konstantin, Sikkema-Raddatz, Birgit, Ledbetter, David H., Zuffardi, Orsetta, van Ravenswaaij-Arts, Conny M.A.
Published in Human mutation (01.06.2012)
Published in Human mutation (01.06.2012)
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Journal Article
Clinical utility gene card for: CHARGE syndrome - update 2015
van Ravenswaaij-Arts, Conny M A, Blake, Kim, Hoefsloot, Lies, Verloes, Alain
Published in European journal of human genetics : EJHG (01.11.2015)
Published in European journal of human genetics : EJHG (01.11.2015)
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Journal Article
Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries
van Heerwaarde, Alise A, Klomberg, Renz C W, van Ravenswaaij-Arts, Conny M A, Ploos van Amstel, Hans Kristian, Toekoen, Aartie, Jessurun, Fariza, Garg, Abhimanyu, van der Kaay, Daniëlle C M
Published in The journal of clinical endocrinology and metabolism (01.12.2021)
Published in The journal of clinical endocrinology and metabolism (01.12.2021)
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Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly
Rump, Patrick, Jazayeri, Omid, van Dijk-Bos, Krista K, Johansson, Lennart F, van Essen, Anthonie J, Verheij, Johanna B G M, Veenstra-Knol, Hermine E, Redeker, Egbert J W, Mannens, Marcel M A M, Swertz, Morris A, Alizadeh, Behrooz Z, van Ravenswaaij-Arts, Conny M A, Sinke, Richard J, Sikkema-Raddatz, Birgit
Published in BMC medical genomics (04.02.2016)
Published in BMC medical genomics (04.02.2016)
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