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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 (88)

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.

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

Nabais Sá Maria J., El Tekle Geniver, de Brouwer Arjan P.M., Sawyer Sarah L., del Gaudio Daniela, Parker Michael J., Kanani Farah, van den Boogaard Marie José H., van Gassen Koen, Van Allen Margot I., Wierenga Klaas, Purcarin Gabriela, Elias Ellen Roy, Begtrup Amber, Keller-Ramey Jennifer, Bernasocchi Tiziano, van de Wiel Laurens, Gilissen Christian, Venselaar Hanka, Pfundt Rolph, Vissers Lisenka E.L.M., Theurillat Jean Philippe P., de Vries Bert B.A. 5 Mar 2020, In: American Journal of Human Genetics. 106 , p. 405-411 7 p.

HNRNPH1-related syndromic intellectual disability:Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome

Reichert Sara C., Li Rachel, A. Turner Scott, van Jaarsveld Richard H., Massink Maarten P.G., van den Boogaard Marie José H., del Toro Mireia, Rodríguez-Palmero Agustí, Fourcade Stéphane, Schlüter Agatha, Planas-Serra Laura, Pujol Aurora, Iascone Maria, Maitz Silvia, Loong Lucy, Stewart Helen, De Franco Elisa, Ellard Sian, Frank Julie, Lewandowski Raymond 1 Jan 2020, In: Clinical Genetics. 98 , p. 91-98 8 p.

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, 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, Wadley Alexandrea F, 2020, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23 , p. 653-660 8 p.

Deletions and loss-of-function variants in TP63 associated with orofacial clefting

Khandelwal Kriti D., van den Boogaard Marie José H., Mehrem Sarah L., Gebel Jakob, Fagerberg Christina, van Beusekom Ellen, van Binsbergen Ellen, Topaloglu Ozan, Steehouwer Marloes, Gilissen Christian, Ishorst Nina, van Rooij Iris A.L.M., Roeleveld Nel, Christensen Kaare, Schoenaers Joseph, Bergé Stefaan, Murray Jeffrey C., Hens Greet, Devriendt Koen, Ludwig Kerstin U., Mangold Elisabeth, Hoischen Alexander, Zhou Huiqing, Dötsch Volker, Carels Carine E.L., van Bokhoven Hans 1 Jul 2019, In: European Journal of Human Genetics. 27 , p. 1101-1112 12 p.

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