Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant

por Linders, Cathelijne C., van Eeghen, Agnies M., Zinkstok, Janneke R., van den Boogaard, Marie-José, Boot, Erik
Publicado 2023

Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome

por Boot, Erik, Linders, Cathelijne C., Tromp, Sterre H., van den Boogaard, Marie‐José, van Eeghen, Agnies M.
Publicado 2021

Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder

por Plug, Marielle B., van Wijngaarden, Vivian, de Wilde, Hester, van Binsbergen, Ellen, Stegeman, Inge, van den Boogaard, Marie-José H., Smit, Adriana L.
Publicado 2021

Elevated Infant Mortality Rate among Dutch Oral Cleft Cases: A Retrospective Analysis from 1997 to 2011

por van Nunen, Daan P. F., van den Boogaard, Marie-José H., Don Griot, J. Peter W., Rüttermann, Mike, van der Veken, Lars T., Breugem, Corstiaan C.
Publicado 2014

Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three‐generation clinical report

por Ross, Jamila, Fennis, Willem, de Leeuw, Nicole, Cune, Marco, Willemze, Annemieke, Rosenberg, Antoine, Ploos van Amstel, Hans‐Kristian, Créton, Marijn, van den Boogaard, Marie‐José
Publicado 2019

Mortality in Robin sequence: identification of risk factors

por Logjes, Robrecht J. H., Haasnoot, Maartje, Lemmers, Petra M. A., Nicolaije, Mike F. A., van den Boogaard, Marie-José H., Mink van der Molen, Aebele B., Breugem, Corstiaan C.
Publicado 2018

Gastrointestinal symptoms in patients with isolated oligodontia and a Wnt gene mutation

por Ross, Jamila N., Ruigrok, Lisanne C., Fennis, Willem M.M., Cune, Marco S., Rosenberg, Antoine J.W.P., van Nunen, Annick B., Créton, Marijn A., Ploos van Amstel, Hans‐Kristian, van den Boogaard, Marie‐José J.H.
Publicado 2021

De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder

por Janssen, Beau D. E., van den Boogaard, Marie‐Jose H., Lichtenbelt, Klaske, Seaby, Eleanor G., Stals, Karen, Ellard, Sian, Newbury‐Ecob, Ruth, Dixit, Abhijit, Roht, Laura, Pajusalu, Sander, Õunap, Katrin, Firth, Helen V., Buckley, Michael, Wilson, Meredith, Roscioli, Tony, Tidwell, Timothy, Mao, Rong, Ennis, Sarah, Holwerda, Sjoerd J., van Gassen, Koen, van Jaarsveld, Richard H.
Publicado 2022

Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome

por Ramirez-Martinez, Andres, Zhang, Yichi, van den Boogaard, Marie-Jose, McAnally, John R., Rodriguez-Caycedo, Cristina, Chai, Andreas C., Chemello, Francesco, Massink, Maarten P.G., Cuppen, Inge, Elferink, Martin G., van Es, Robert J.J., Janssen, Nard G., Walraven-van Oijen, Linda P.A.M., Liu, Ning, Bassel-Duby, Rhonda, van Jaarsveld, Richard H., Olson, Eric N.
Publicado 2022

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

por Woldegebriel, Rosa, Kvist, Jouni, Andersson, Noora, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H, Bijlsma, Emilia K, Hoffer, Mariëtte J V, Ryan, Monique M, Stark, Zornitza, Walsh, Maie, Cuppen, Inge, van den Boogaard, Marie-Jose´ H, Bharucha-Goebel, Diana, Donkervoort, Sandra, Winchester, Sara, Zori, Roberto, Bönnemann, Carsten G, Maroofian, Reza, O’Connor, Emer, Houlden, Henry, Zhao, Fang, Carpén, Olli, White, Matthew, Sreedharan, Jemeen, Stewart, Murray, Ylikallio, Emil, Tyynismaa, Henna
Publicado 2020

Clinical Practice Guidelines on the Treatment of Patients with Cleft Lip, Alveolus, and Palate: An Executive Summary

por Mink van der Molen, Aebele B., van Breugel, Johanna M. M., Janssen, Nard G., Admiraal, Ronald J. C., van Adrichem, Leon N. A., Bierenbroodspot, Frank, Bittermann, Dirk, van den Boogaard, Marie-José H., Broos, Pieter H., Dijkstra-Putkamer, Janet J. M., van Gemert-Schriks, Martine C. M., Kortlever, Andrea L. J., Mouës-Vink, Chantal M., Swanenburg de Veye, Henriette F. N., van Tol-Verbeek, Nanouk, Vermeij-Keers, Christl, de Wilde, Hester, Kuijpers-Jagtman, Anne Marie
Publicado 2021

Macrocephaly and developmental delay caused by missense variants in RAB5C

por Koop, Klaas, Yuan, Weimin, Tessadori, Federico, Rodriguez-Polanco, Wilmer R, Grubbs, Jeremy, Zhang, Bo, Osmond, Matt, Graham, Gail, Sawyer, Sarah, Conboy, Erin, Vetrini, Francesco, Treat, Kayla, Płoski, Rafal, Pienkowski, Victor Murcia, Kłosowska, Anna, Fieg, Elizabeth, Krier, Joel, Mallebranche, Coralie, Alban, Ziegler, Aldinger, Kimberly A, Ritter, Deborah, Macnamara, Ellen, Sullivan, Bonnie, Herriges, John, Alaimo, Joseph T, Helbig, Catherine, Ellis, Colin A, van Eyk, Clare, Gecz, Jozef, Farrugia, Daniel, Osei-Owusu, Ikeoluwa, Adès, Lesley, van den Boogaard, Marie-Jose, Fuchs, Sabine, Bakker, Jeroen, Duran, Karen, Dawson, Zachary D, Lindsey, Anika, Huang, Huiyan, Baldridge, Dustin, Silverman, Gary A, Grant, Barth D, Raizen, David, van Haaften, Gijs, Pak, Stephen C, Rehmann, Holger, Schedl, Tim, van Hasselt, Peter
Publicado 2023

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

por van Jaarsveld, Richard H., Reilly, Jack, Cornips, Marie-Claire, Hadders, Michael A., Agolini, Emanuele, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Audebert Bellanger, Severine, van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Brischoux-Boucher, Elise, Caylor, Raymond C., Ciolfi, Andrea, van Essen, Ton A.J., Fontana, Paolo, Hopman, Saskia, Iascone, Maria, Javier, Margaret M., Kamsteeg, Erik-Jan, Kerkhof, Jennifer, Kido, Jun, Kim, Hyung-Goo, Kleefstra, Tjitske, Lonardo, Fortunato, Lai, Abbe, Lev, Dorit, Levy, Michael A., Lewis, M.E. Suzanne, Lichty, Angie, Mannens, Marcel M.A.M., Matsumoto, Naomichi, Maya, Idit, McConkey, Haley, Megarbane, Andre, Michaud, Vincent, Miele, Evelina, Niceta, Marcello, Novelli, Antonio, Onesimo, Roberta, Pfundt, Rolph, Popp, Bernt, Prijoles, Eloise, Relator, Raissa, Redon, Sylvia, Rots, Dmitrijs, Rouault, Karen, Saida, Ken, Schieving, Jolanda, Tartaglia, Marco, Tenconi, Romano, Uguen, Kevin, Verbeek, Nienke, Walsh, Christopher A., Yosovich, Keren, Yuskaitis, Christopher J., Zampino, Giuseppe, Sadikovic, Bekim, Alders, Mariëlle, Oegema, Renske
Publicado 2022