Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report
Remmelzwaal, P. Christian, Verhagen, Martijn V., Jongbloed, Jan D. H., Akker, Peter C., Veenstra‐Knol, Hermine E., Hitzert, Marrit M.
Published in American journal of medical genetics. Part A (01.09.2023)
Published in American journal of medical genetics. Part A (01.09.2023)
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Genotype–phenotype correlation at codon 1740 of SETD2
Rabin, Rachel, Radmanesh, Alireza, Glass, Ian A., Dobyns, William B., Aldinger, Kimberly A., Shieh, Joseph T., Romoser, Shelby, Bombei, Hannah, Dowsett, Leah, Trapane, Pamela, Bernat, John A., Baker, Janice, Mendelsohn, Nancy J., Popp, Bernt, Siekmeyer, Manuela, Sorge, Ina, Sansbury, Francis Hugh, Watts, Patrick, Foulds, Nicola C., Burton, Jennifer, Hoganson, George, Hurst, Jane A., Menzies, Lara, Osio, Deborah, Kerecuk, Larissa, Cobben, Jan M., Jizi, Khadijé, Jacquemont, Sebastien, Bélanger, Stacey A., Löhner, Katharina, Veenstra‐Knol, Hermine E., Lemmink, Henny H., Keller‐Ramey, Jennifer, Wentzensen, Ingrid M., Punj, Sumit, McWalter, Kirsty, Lenberg, Jerica, Ellsworth, Katarzyna A., Radtke, Kelly, Akbarian, Schahram, Pappas, John
Published in American journal of medical genetics. Part A (01.09.2020)
Published in American journal of medical genetics. Part A (01.09.2020)
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Central 22q11.2 deletions
Rump, Patrick, de Leeuw, Nicole, van Essen, Anthonie J., Verschuuren-Bemelmans, Corien C., Veenstra-Knol, Hermine E., Swinkels, Mariëlle E.M., Oostdijk, Wilma, Ruivenkamp, Claudia, Reardon, Willie, de Munnik, Sonja, Ruiter, Mariken, Frumkin, Ayala, Lev, Dorit, Evers, Christina, Sikkema-Raddatz, Birgit, Dijkhuizen, Trijnie, van Ravenswaaij-Arts, Conny M.
Published in American journal of medical genetics. Part A (01.11.2014)
Published in American journal of medical genetics. Part A (01.11.2014)
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Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype
Wade, Emma M., Jenkins, Zandra A., Daniel, Philip B., Morgan, Tim, Addor, Marie C., Adés, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae‐Joon, de Geus, Christa M., Duba, Hans‐Christoph, Fletcher, Elaine, Hadzsiev, Kinga, Hennekam, Raoul C. M., Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Sillence, David, Superti‐Furga, Andrea, Veenstra‐Knol, Hermine E., Wieczorek, Dagmar, Wilson, Louise C., Markie, David M., Robertson, Stephen P.
Published in American journal of medical genetics. Part A (01.07.2017)
Published in American journal of medical genetics. Part A (01.07.2017)
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Biallelic variants in WARS2 encoding mitochondrial tryptophanyl‐tRNA synthase in six individuals with mitochondrial encephalopathy
Wortmann, Saskia B., Timal, Sharita, Venselaar, Hanka, Wintjes, Liesbeth T., Kopajtich, Robert, Feichtinger, René G., Onnekink, Carla, Mühlmeister, Mareike, Brandt, Ulrich, Smeitink, Jan A., Veltman, Joris A., Sperl, Wolfgang, Lefeber, Dirk, Pruijn, Ger, Stojanovic, Vesna, Freisinger, Peter, v Spronsen, Francjan, Derks, Terry GJ, Veenstra‐Knol, Hermine E., Mayr, Johannes A, Rötig, Agnes, Tarnopolsky, Mark, Prokisch, Holger, Rodenburg, Richard J.
Published in Human mutation (01.12.2017)
Published in Human mutation (01.12.2017)
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Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene
van Tintelen, J Peter, Van Gelder, Isabelle C, Asimaki, Angeliki, Suurmeijer, Albert J H, Wiesfeld, Ans C P, Jongbloed, Jan D H, van den Wijngaard, Arthur, Kuks, Jan B M, van Spaendonck-Zwarts, Karin Y, Notermans, Nicolette, Boven, Ludolf, van den Heuvel, Freek, Veenstra-Knol, Hermine E, Saffitz, Jeffrey E, Hofstra, Robert M W, van den Berg, Maarten P
Published in Heart rhythm (01.11.2009)
Published in Heart rhythm (01.11.2009)
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EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction
de Boer, Anneke, Vermeulen, Karlijn, Egger, Jos I M, Janzing, Joost G E, de Leeuw, Nicole, Veenstra-Knol, Hermine E, den Hollander, Nicolette S, van Bokhoven, Hans, Staal, Wouter, Kleefstra, Tjitske
Published in Molecular autism (25.01.2018)
Published in Molecular autism (25.01.2018)
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Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
Bramswig, Nuria C., Lüdecke, Hermann-Josef, Hamdan, Fadi F., Altmüller, Janine, Beleggia, Filippo, Elcioglu, Nursel H., Freyer, Catharine, Gerkes, Erica H., Demirkol, Yasemin Kendir, Knupp, Kelly G., Kuechler, Alma, Li, Yun, Lowenstein, Daniel H., Michaud, Jacques L., Park, Kristen, Stegmann, Alexander P.A., Veenstra-Knol, Hermine E., Wieland, Thomas, Wollnik, Bernd, Engels, Hartmut, Strom, Tim M., Kleefstra, Tjitske, Wieczorek, Dagmar
Published in Human genetics (01.07.2017)
Published in Human genetics (01.07.2017)
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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
Goodman, Lindsey D., Cope, Heidi, Nil, Zelha, Ravenscroft, Thomas A., Charng, Wu-Lin, Lu, Shenzhao, Tien, An-Chi, Pfundt, Rolph, Koolen, David A., Haaxma, Charlotte A., Veenstra-Knol, Hermine E., Wassink-Ruiter, Jolien S. Klein, Wevers, Marijke R., Jones, Melissa, Walsh, Laurence E., Klee, Victoria H., Theunis, Miel, Legius, Eric, Steel, Dora, Barwick, Katy E.S., Kurian, Manju A., Mohammad, Shekeeb S., Dale, Russell C., Terhal, Paulien A., van Binsbergen, Ellen, Kirmse, Brian, Robinette, Bethany, Cogné, Benjamin, Isidor, Bertrand, Grebe, Theresa A., Kulch, Peggy, Hainline, Bryan E., Sapp, Katherine, Morava, Eva, Klee, Eric W., Macke, Erica L., Trapane, Pamela, Spencer, Christopher, Si, Yue, Begtrup, Amber, Moulton, Matthew J., Dutta, Debdeep, Kanca, Oguz, Wangler, Michael F., Yamamoto, Shinya, Bellen, Hugo J., Tan, Queenie K.-G.
Published in American journal of human genetics (02.09.2021)
Published in American journal of human genetics (02.09.2021)
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The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
Koolen, David A, Pfundt, Rolph, Linda, Katrin, Beunders, Gea, Veenstra-Knol, Hermine E, Conta, Jessie H, Fortuna, Ana Maria, Gillessen-Kaesbach, Gabriele, Dugan, Sarah, Halbach, Sara, Abdul-Rahman, Omar A, Winesett, Heather M, Chung, Wendy K, Dalton, Marguerite, Dimova, Petia S, Mattina, Teresa, Prescott, Katrina, Zhang, Hui Z, Saal, Howard M, Hehir-Kwa, Jayne Y, Willemsen, Marjolein H, Ockeloen, Charlotte W, Jongmans, Marjolijn C, Van der Aa, Nathalie, Failla, Pinella, Barone, Concetta, Avola, Emanuela, Brooks, Alice S, Kant, Sarina G, Gerkes, Erica H, Firth, Helen V, Õunap, Katrin, Bird, Lynne M, Masser-Frye, Diane, Friedman, Jennifer R, Sokunbi, Modupe A, Dixit, Abhijit, Splitt, Miranda, Kukolich, Mary K, McGaughran, Julie, Coe, Bradley P, Flórez, Jesús, Nadif Kasri, Nael, Brunner, Han G, Thompson, Elizabeth M, Gecz, Jozef, Romano, Corrado, Eichler, Evan E, de Vries, Bert B A
Published in European journal of human genetics : EJHG (01.05.2016)
Published in European journal of human genetics : EJHG (01.05.2016)
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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
Reijnders, Margot R.F., Zachariadis, Vasilios, Latour, Brooke, Jolly, Lachlan, Mancini, Grazia M., Pfundt, Rolph, Wu, Ka Man, van Ravenswaaij-Arts, Conny M.A., Veenstra-Knol, Hermine E., Anderlid, Britt-Marie M., Wood, Stephen A., Cheung, Sau Wai, Barnicoat, Angela, Probst, Frank, Magoulas, Pilar, Brooks, Alice S., Malmgren, Helena, Harila-Saari, Arja, Marcelis, Carlo M., Vreeburg, Maaike, Hobson, Emma, Sutton, V. Reid, Stark, Zornitza, Vogt, Julie, Cooper, Nicola, Lim, Jiin Ying, Price, Sue, Lai, Angeline Hwei Meeng, Domingo, Deepti, Reversade, Bruno, Gecz, Jozef, Gilissen, Christian, Brunner, Han G., Kini, Usha, Roepman, Ronald, Nordgren, Ann, Kleefstra, Tjitske
Published in American journal of human genetics (04.02.2016)
Published in American journal of human genetics (04.02.2016)
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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
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders
Stolz, Jacob R., Foote, Kendall M., Veenstra-Knol, Hermine E., Pfundt, Rolph, ten Broeke, Sanne W., de Leeuw, Nicole, Roht, Laura, Pajusalu, Sander, Part, Reelika, Rebane, Ionella, Õunap, Katrin, Stark, Zornitza, Kirk, Edwin P., Lawson, John A., Lunke, Sebastian, Christodoulou, John, Louie, Raymond J., Rogers, R. Curtis, Davis, Jessica M., Innes, A. Micheil, Wei, Xing-Chang, Keren, Boris, Mignot, Cyril, Lebel, Robert Roger, Sperber, Steven M., Sakonju, Ai, Dosa, Nienke, Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M.P.C.D., Ruivenkamp, Claudia A.L., van Bon, Bregje W., Kennedy, Joanna, Low, Karen J., Ellard, Sian, Pang, Lewis, Junewick, Joseph J., Mark, Paul R., Carvill, Gemma L., Swanson, Geoffrey T.
Published in American journal of human genetics (02.09.2021)
Published in American journal of human genetics (02.09.2021)
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Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON
Dingemans, Alexander J M, Truijen, Kim M G, Kim, Jung-Hyun, Alaçam, Zahide, Faivre, Laurence, Collins, Kathleen M, Gerkes, Erica H, van Haelst, Mieke, van de Laar, Ingrid M B H, Lindstrom, Kristin, Nizon, Mathilde, Pauling, James, Heropolitańska-Pliszka, Edyta, Plomp, Astrid S, Racine, Caroline, Sachdev, Rani, Sinnema, Margje, Skranes, Jon, Veenstra-Knol, Hermine E, Verberne, Eline A, Vulto-van Silfhout, Anneke T, Wilsterman, Marlon E F, Ahn, Eun-Young Erin, de Vries, Bert B A, Vissers, Lisenka E L M
Published in European journal of human genetics : EJHG (01.03.2022)
Published in European journal of human genetics : EJHG (01.03.2022)
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Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression
Frank, Valeska, Habbig, Sandra, Bartram, Malte P, Eisenberger, Tobias, Veenstra-Knol, Hermine E, Decker, Christian, Boorsma, Reinder A C, Göbel, Heike, Nürnberg, Gudrun, Griessmann, Anabel, Franke, Mareike, Borgal, Lori, Kohli, Priyanka, Völker, Linus A, Dötsch, Jörg, Nürnberg, Peter, Benzing, Thomas, Bolz, Hanno J, Johnson, Colin, Gerkes, Erica H, Schermer, Bernhard, Bergmann, Carsten
Published in Human molecular genetics (01.06.2013)
Published in Human molecular genetics (01.06.2013)
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Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3
Cameron-Christie, Sophia R., Wells, Constance F., Simon, Marleen, Wessels, Marja, Tang, Candy Z.N., Wei, Wenhua, Takei, Riku, Aarts-Tesselaar, Coranne, Sandaradura, Sarah, Sillence, David O., Cordier, Marie-Pierre, Veenstra-Knol, Hermine E., Cassina, Matteo, Ludwig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M., Jenkins, Zandra A., Robertson, Stephen P.
Published in American journal of human genetics (07.06.2018)
Published in American journal of human genetics (07.06.2018)
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Journal Article
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3
Cameron-Christie, Sophia R., Wells, Constance F., Simon, Marleen, Wessels, Marja, Tang, Candy Z.N., Wei, Wenhua, Takei, Riku, Aarts-Tesselaar, Coranne, Sandaradura, Sarah, Sillence, David O., Cordier, Marie-Pierre, Veenstra-Knol, Hermine E., Cassina, Matteo, Ludwig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M., Jenkins, Zandra A., Robertson, Stephen P.
Published in American journal of human genetics (05.09.2019)
Published in American journal of human genetics (05.09.2019)
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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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Journal Article
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders
Stolz, Jacob R., Foote, Kendall M., Veenstra-Knol, Hermine E., Pfundt, Rolph, ten Broeke, Sanne W., de Leeuw, Nicole, Roht, Laura, Pajusalu, Sander, Part, Reelika, Rebane, Ionella, Õunap, Katrin, Stark, Zornitza, Kirk, Edwin P., Lawson, John A., Lunke, Sebastian, Christodoulou, John, Louie, Raymond J., Rogers, R. Curtis, Davis, Jessica M., Innes, A. Micheil, Wei, Xing-Chang, Keren, Boris, Mignot, Cyril, Lebel, Robert Roger, Sperber, Steven M., Sakonju, Ai, Dosa, Nienke, Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M.P.C.D., Ruivenkamp, Claudia A.L., van Bon, Bregje W., Kennedy, Joanna, Low, Karen J., Ellard, Sian, Pang, Lewis, Junewick, Joseph J., Mark, Paul R., Carvill, Gemma L., Swanson, Geoffrey T.
Published in American journal of human genetics (04.11.2021)
Published in American journal of human genetics (04.11.2021)
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