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dr. M.J.H. van den Boogaard

dr. M.J.H. van den Boogaard

Assistant Professor - medical
  • Section Clinical Genetics

Research Programs

Child Health

Research Output (92)

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Ebstein Frédéric et al. 31 May 2023, In: Science translational medicine. 15

Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10

Créton Marijn, Wagener Frank, Massink Maarten, Fennis Willem, Bloemen Marjon, Schols Jan, Aarts Miranda, van der Molen Aebele Mink, van Haaften Gijs, van den Boogaard Marie José 2023, In: American Journal of Medical Genetics, Part A. 191 , p. 1083-1088 6 p.

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

van Jaarsveld Richard H, Reilly Jack, Cornips Marie-Claire, Hadders Michael A, Agolini Emanuele, Ahimaz Priyanka, Anyane-Yeboa Kwame, Bellanger Severine Audebert, 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 1 Nov 2022, In: Genetics in medicine : official journal of the American College of Medical Genetics. 25 , p. 49-62 14 p.

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

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 29 Jul 2022, In: Human mutation. 43 , p. 1844-1851 8 p.

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

Ramirez-Martinez Andres, Zhang Yichi, van den Boogaard Marie-Jose, McAnally John R, Rodriguez-Caycedo Cristina, Chai Andreas C, Chemello Francesco, Massink Maarten Pg, Cuppen Inge, Elferink Martin G, van Es Robert Jj, Janssen Nard G, Walraven-van Oijen Linda Pam, Liu Ning, Bassel-Duby Rhonda, van Jaarsveld Richard H, Olson Eric N 1 Jun 2022, In: Journal of Clinical Investigation. 132 , p. 1-11

Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder

Plug Marielle B., van Wijngaarden Vivian, de Wilde Hester, van Binsbergen Ellen, Stegeman Inge, van den Boogaard Marie José H., Smit Adriana L. 1 Jul 2021, In: Frontiers in Pediatrics. 9 , p. 1-10

Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Klöckner Chiara, Sticht Heinrich, Zacher Pia, Popp Bernt, Babcock Holly E, Bakker Dewi P, Barwick Katy, Bonfert Michaela V, Bönnemann Carsten G, Brilstra Eva H, Chung Wendy K, Clarke Angus J, Devine Patrick, Donkervoort Sandra, Fraser Jamie L, Friedman Jennifer, Gates Alyssa, Ghoumid Jamal, Hobson Emma, Horvath Gabriella, Keller-Ramey Jennifer, Keren Boris, Kurian Manju A, Lee Virgina, Leppig Kathleen A, Lundgren Johan, McDonald Marie T, McLaughlin Heather M, McTague Amy, Mefford Heather C, Mignot Cyril, Mikati Mohamad A, Nava Caroline, Raymond F Lucy, Sampson Julian R, Sanchis-Juan Alba, Shashi Vandana, Shieh Joseph T C, Shinawi Marwan, Slavotinek Anne, Stödberg Tommy, Stong Nicholas, Sullivan Jennifer A, Taylor Ashley C, Toler Tomi L, van den Boogaard Marie-José, van der Crabben Saskia N, van Gassen Koen L I, van Jaarsveld Richard H, Van Ziffle Jessica, Apr 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23 , p. 796 1 p.

Correction to:Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

Smits Jeroen J., de Bruijn Suzanne E., Lanting C. P., Oostrik Jaap, O’Gorman Luke, Mantere Tuomo, van Dooren M. F., Kant S. G., de Gier H. H.W., Hoefsloot E. H., van der Schroeff M. P., Rotteveel L. J.C., Ropers F. G., Widdershoven J. C.C., Hof J. R., Vanhoutte E. K., Feenstra I., Kremer H., Lanting C. P., Pennings Ronald J.E., Yntema Helger G., Free R. H., Klein Wassink-Ruiter J. S., Stokroos R. J., Smit A. L., van den Boogaard M. J., Ebbens F. A., Maas S. M., Plomp A., Goderie T. P.M., Merkus P., van de Kamp J., Cremers Frans P.M., Roosing Susanne, Yntema Helger G., de Vrieze Erik, Derks Ronny, Hoischen Alexander, Pegge Sjoert A.H., Neveling Kornelia, Pennings Ronald J.E., Kremer Hannie, 2021, In: Human Genetics. 141 , p. 991-991 1 p.

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

Boot Erik, Linders Cathelijne C, Tromp Sterre H, van den Boogaard Marie-José, van Eeghen Agnies M 2021, In: American Journal of Medical Genetics. Part A. 185 , p. 3167-3169 3 p.

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

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 3 Jun 2020, In: Human molecular genetics. 29 , p. 1426-1439 14 p.

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