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dr. M.J.H. van den Boogaard

dr. M.J.H. van den Boogaard

Assistant Professor - medical

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Research Output (94)

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.

Delirium prediction in the intensive care unit:Comparison of two delirium prediction models

Wassenaar Annelies, Schoonhoven Lisette, Devlin John W., van Haren Frank M.P., Slooter Arjen J.C., Jorens Philippe G., van der Jagt Mathieu, Simons Koen S., Egerod Ingrid, Burry Lisa D., Beishuizen Albertus, Matos Joaquim, Donders A. Rogier T., Pickkers Peter, van den Boogaard Mark 5 May 2018, In: Critical Care. 22 , p. 114

Mortality in Robin sequence:identification of risk factors

Logjes Robrecht J H, Haasnoot Maartje, Lemmers Petra M A, Nicolaije Mike F A, van den Boogaard Marie-José H, van der Molen Aebele B Mink, Breugem Corstiaan C May 2018, In: European Journal of Pediatrics. 177 , p. 781-789 9 p.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

Tran Mau-Them F., Guibaud L., Duplomb L., Keren B., Lindstrom K., Marey I., Mochel F., van den Boogaard M. J., Oegema R., Nava C., Masurel A., Jouan T., Jansen F. E., Au M., Chen Agnes H., Cho M., Duffourd Y., Lozier E., Konovalov F., Sharkov A., Korostelev S., Urteaga B., Dickson P., Vera M., Martínez-Agosto Julián A., Begemann A., Zweier M., Schmitt-Mechelke T., Rauch A., Philippe C., van Gassen K., Nelson S., Graham J. M., Friedman J., Faivre L., Lin H. J., Thauvin-Robinet C., Vitobello A. 1 Jan 2018, In: Genetics in Medicine. 21 , p. 1008-1014 7 p.

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

de Kovel Carolien G F, Syrbe Steffen, Brilstra Eva H, Verbeek Nienke, Kerr Bronwyn, Dubbs Holly, Bayat Allan, Desai Sonal, Naidu Sakkubai, Srivastava Siddharth, Cagaylan Hande, Yis Uluc, Saunders Carol, Rook Martin, Plugge Susanna, Muhle Hiltrud, Afawi Zaid, Klein Karl-Martin, Jayaraman Vijayakumar, Rajagopalan Ramakrishnan, Goldberg Ethan, Marsh Eric, Kessler Sudha, Bergqvist Christina, Conlin Laura K, Krok Bryan L, Thiffault Isabelle, Pendziwiat Manuela, Helbig Ingo, Polster Tilman, Borggraefe Ingo, Lemke Johannes R, van den Boogaardt Marie-José, Møller Rikke S, Koeleman Bobby P C Oct 2017, In: JAMA Neurology. 74 , p. 1228-1236 9 p.

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Ylikallio Emil, Woldegebriel Rosa, Tumiati Manuela, Isohanni Pirjo, Ryan Monique M., Stark Zornitza, Walsh Maie, Sawyer Sarah L., Bell Katrina M., Oshlack Alicia, Lockhart Paul J., Shcherbii Mariia, Estrada-Cuzcano Alejandro, Atkinson Derek, Hartley Taila, Tetreault Martine, Cuppen Inge, Van Der Pol W. Ludo, Candayan Ayse, Battaloglu Esra, Parman Yesim, Van Gassen Koen L.I., Van Den Boogaard Marie José H., Boycott Kym M., Kauppi Liisa, Jordanova Albena, Lönnqvist Tuula, Tyynismaa Henna 1 Aug 2017, In: Brain. 140 , p. 2093-2103 11 p.

Factors Associated with Mortality in Low-Risk Pediatric Critical Care Patients in the Netherlands

Verlaat Carin W., Visser Idse H., Wubben Nina, Hazelzet Jan A., Lemson Joris, van Waardenburg Dick A, Van Der Heide Douwe, Van Dam Nicolette A., Jansen Nicolaas J., Van Heerde Mark, van der Starre Cynthia, Van Asperen Roelie, Kneyber Martin, van Woensel Job B M, Van Den Boogaard Mark, van der Hoeven Johannes G. 1 Apr 2017, In: Pediatric Critical Care Medicine. 18 , p. e155-e161

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Zazo Seco Celia, Wesdorp Mieke, Feenstra Ilse, Pfundt Rolph, Hehir-Kwa Jayne Y, Lelieveld Stefan H, Castelein Steven, Gilissen Christian, de Wijs Ilse J, Admiraal Ronald Jc, Pennings Ronald Je, Kunst Henricus Pm, van de Kamp Jiddeke M, Tamminga Saskia, Houweling Arjan C, Plomp Astrid S, Maas Saskia M, de Koning Gans Pia Am, Kant Sarina G, de Geus Christa M, Frints Suzanna Gm, Vanhoutte Els K, van Dooren Marieke F, van den Boogaard Marie-José H, Scheffer Hans, Nelen Marcel, Kremer Hannie, Hoefsloot Lies, Schraders Margit, Yntema Helger G Feb 2017, In: European Journal of Human Genetics. 25 , p. 308-314 7 p.

Polyhydramnios in isolated oral cleft pregnancies:incidence and outcome in a retrospective study

Depla Anne L, Breugem Corstiaan C, van der Horst Chantal M A M, de Heus Roel, van den Boogaard Marie-José H, Maas Saskia M, Pajkrt Eva, Bekker Mireille N Feb 2017, In: Prenatal Diagnosis. 37 , p. 162-167 6 p.

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