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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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
Veltman, Joris A, Vissers, Lisenka E L M, van Ravenswaaij, Conny M A, Admiraal, Ronald, Hurst, Jane A, de Vries, Bert B A, Janssen, Irene M, van der Vliet, Walter A, Huys, Erik H L P G, de Jong, Pieter J, Hamel, Ben C J, Schoenmakers, Eric F P M, Brunner, Han G, van Kessel, Ad Geurts
Published in Nature genetics (01.09.2004)
Published in Nature genetics (01.09.2004)
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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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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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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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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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Journal Article
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
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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EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
Lévy, Jonathan, Schell, Bérénice, Nasser, Hala, Rachid, Myriam, Ruaud, Lyse, Couque, Nathalie, Callier, Patrick, Faivre, Laurence, Marle, Nathalie, Engwerda, Aafke, Ravenswaaij‐Arts, Conny M. A., Plutino, Morgane, Karmous‐Benailly, Houda, Benech, Caroline, Redon, Sylvia, Boute, Odile, Boudry Labis, Elise, Rama, Mélanie, Kuentz, Paul, Assoumani, Jessica, Maldergem, Lionel Van, Dupont, Céline, Verloes, Alain, Tabet, Anne‐Claude
Published in Clinical genetics (01.10.2021)
Published in Clinical genetics (01.10.2021)
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Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study
Wong, Monica T Y, Lambeck, Annechien J A, van der Burg, Mirjam, la Bastide-van Gemert, Sacha, Hogendorf, Lianne A, van Ravenswaaij-Arts, Conny M A, Schölvinck, Elisabeth H
Published in PloS one (06.11.2015)
Published in PloS one (06.11.2015)
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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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An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry
Penders, Bas, Dijk, Dieuwerke R., Bocca, Gianni, Zimmermann, Luc J. I., Ravenswaaij‐Arts, Conny M. A., Gerver, Willem‐Jan M.
Published in American journal of medical genetics. Part A (01.08.2019)
Published in American journal of medical genetics. Part A (01.08.2019)
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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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Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans
Feenstra, Ilse, Vissers, Lisenka E.L.M., Pennings, Ronald J.E., Nillessen, Willy, Pfundt, Rolph, Kunst, Henricus P., Admiraal, Ronald J., Veltman, Joris A., van Ravenswaaij-Arts, Conny M.A., Brunner, Han G., Cremers, Cor W.R.J.
Published in American journal of human genetics (09.12.2011)
Published in American journal of human genetics (09.12.2011)
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Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development
Bever, Yolande van, Brüggenwirth, Hennie T, Wolffenbuttel, Katja P, Dessens, Arianne B, Groenenberg, Irene A L, Knapen, Maarten F C M, De Baere, Elfride, Cools, Martine, van Ravenswaaij-Arts, Conny M A, Sikkema-Raddatz, Birgit, Claahsen-van der Grinten, Hedi, Kempers, Marlies, Rinne, Tuula, Hersmus, Remko, Looijenga, Leendert, Hannema, Sabine E
Published in Journal of medical genetics (01.09.2020)
Published in Journal of medical genetics (01.09.2020)
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Journal Article
MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions
Stevens, Servi J.C., van Ravenswaaij-Arts, Conny M.A., Janssen, Jannie W.H., Klein Wassink-Ruiter, Jolien S., van Essen, Anthonie J., Dijkhuizen, Trijnie, van Rheenen, Jeroen, Heuts-Vijgen, Regina, Stegmann, Alexander P.A., Smeets, Eric E.J.G.L., Engelen, John J.M.
Published in American journal of medical genetics. Part A (01.11.2011)
Published in American journal of medical genetics. Part A (01.11.2011)
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Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms
Stevens, Servi J C, van Essen, Anthonie J, van Ravenswaaij, Conny M A, Elias, Abdallah F, Haven, Jaclyn A, Lelieveld, Stefan H, Pfundt, Rolph, Nillesen, Willy M, Yntema, Helger G, van Roozendaal, Kees, Stegmann, Alexander P, Gilissen, Christian, Brunner, Han G
Published in Genome medicine (13.12.2016)
Published in Genome medicine (13.12.2016)
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Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation
van der Welle, Reini E N, Jobling, Rebekah, Burns, Christian, Sanza, Paolo, van der Beek, Jan A, Fasano, Alfonso, Chen, Lan, Zwartkruis, Fried J, Zwakenberg, Susan, Griffin, Edward F, ten Brink, Corlinda, Veenendaal, Tineke, Liv, Nalan, van Ravenswaaij‐Arts, Conny M A, Lemmink, Henny H, Pfundt, Rolph, Blaser, Susan, Sepulveda, Carolina, Lozano, Andres M, Yoon, Grace, Santiago‐Sim, Teresa, Asensio, Cedric S, Caldwell, Guy A, Caldwell, Kim A, Chitayat, David, Klumperman, Judith
Published in EMBO molecular medicine (07.05.2021)
Published in EMBO molecular medicine (07.05.2021)
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