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dr. M.J.H. van den Boogaard

Assistant Professor - medical
  1. Contact
  2. Research Programs
  3. Research Output
E. mboogaa2@umcutrecht.nl
  • Section Clinical Genetics

Research Programs

Child Health

Research Output (82)

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 mrt 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.

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.

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

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 1 jun 2019, In: Molecular Genetics and Genomic Medicine. 7 6 p.

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Jansen Sandra, van der Werf Ilse M., Innes A. Micheil, Afenjar Alexandra, Agrawal Pankaj B., Anderson Ilse J., Atwal Paldeep S., van Binsbergen Ellen, van den Boogaard Marie José, Castiglia Lucia, Coban-Akdemir Zeynep H., van Dijck Anke, Doummar Diane, van Eerde Albertien M., van Essen Anthonie J., van Gassen Koen L., Guillen Sacoto Maria J., van Haelst Mieke M., Iossifov Ivan, Jackson Jessica L., Judd Elizabeth, Kaiwar Charu, Keren Boris, Klee Eric W., Klein Wassink-Ruiter Jolien S., Meuwissen Marije E., Monaghan Kristin G., de Munnik Sonja A., Nava Caroline, Ockeloen Charlotte W., Pettinato Rosa, Racher Hilary, Rinne Tuula, Romano Corrado, Sanders Victoria R., Schnur Rhonda E., Smeets Eric J., Stegmann Alexander P.A., Stray-Pedersen Asbjørg, Sweetser David A., Terhal Paulien A., Tveten Kristian, VanNoy Grace E., de Vries Petra F., Waxler Jessica L., Willing Marcia, Pfundt Rolph, Veltman Joris A., Kooy R. Frank, Vissers Lisenka E.L.M., de Vries Bert B.A. 1 jan 2019, In: European Journal of Human Genetics. 27 , p. 738-746 9 p.

Development of an ICU discharge instrument predicting psychological morbidity:a multinational study

Milton A, Schandl A, Soliman I W, Meijers K, van den Boogaard M, Larsson I M, Brorsson C, Östberg U, Oxenbøll-Collet M, Savilampi J, Paskins S, Bottai M, Sackey P V dec 2018, In: Intensive Care Medicine. 44 , p. 2038-2047 10 p.

Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy

Wesdorp M., Schreur V., Beynon A. J., Oostrik J., van de Kamp J. M., Elting M. W., van den Boogaard M. J.H., Feenstra I., Admiraal R. J.C., Kunst H. P.M., Hoyng C. B., Kremer H., Yntema H. G., Pennings R. J.E., Schraders M. 1 aug 2018, In: Clinical Genetics. 94 , p. 221-231 11 p.

Robin sequence:Continuing heterogeneity in nomenclature and diagnosis

Van Nunen Daan P.F., Van Den Boogaard Marie José H., Breugem Corstiaan C. 1 jun 2018, In: The journal of craniofacial surgery. 29 , p. 985-987 3 p.

The ontogeny of Robin sequence

Logjes Robrecht J H, Breugem Corstiaan C, Van Haaften Gijs, Paes Emma C, Sperber Geoffrey H, van den Boogaard Marie-José H, Farlie Peter G jun 2018, In: American Journal of Medical Genetics. Part A. 176 , p. 1349-1368 20 p.

All research output