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ir. O.P.P. van den Briels

ir. O.P.P. van den Briels

Assistant Professor - medical

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Research Output (86)

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.

The association between WNT10A variants and dental development in patients with isolated oligodontia

Dhamo Brunilda, Fennis Willem, Creton MA, Vucic Strahinja, Cune Marco, Ploos van Amstel Hans Kristian, Wolvius Eppo B, van den Boogaard MJH, Ongkosuwito Edwin M Jan 2017, In: European Journal of Human Genetics. 25 , p. 59–65

Postoperatief delirium herkennen bij ouderen

Numan Tianne, Van Den Boogaard Mark, Kamper Adriaan M., Rood Paul J T, Peelen Linda M., Slooter Arjen J.C. 2017, In: Nederlands Tijdschrift voor Geneeskunde. 161

Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence:A Clinical Consensus Report

Breugem Corstiaan C, Evans Kelly N, Poets Christian F, Suri Sunjay, Picard Arnaud, Filip Charles, Paes Emma C, Mehendale Felicity V, Saal Howard M, Basart Hanneke, Murthy Jyotsna, Joosten Koen F M, Speleman Lucienne, Collares Marcus V M, van den Boogaard Marie-José H, Muradin Marvick, Andersson Maud Els-Marie, Kogo Mikihiko, Farlie Peter G, Don Griot Peter, Mossey Peter A, Slator Rona, Abadie Veronique, Hong Paul 1 Sep 2016, In: JAMA Pediatrics. 170 , p. 894-902

Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)

Monroe Glen R, Kappen Isabelle Fpm, Stokman Marijn F, Terhal Paulien A, van den Boogaard Marie-José H, Savelberg Sanne Mc, van der Veken Lars T, van Es Robert J J, Lens Susanne M, Hengeveld Rutger C, Creton Marijn A, Janssen Nard G, Mink van der Molen Aebele B, Ebbeling Michelle B, Giles Rachel H, Knoers Nine V, van Haaften Gijs 17 Aug 2016, In: European Journal of Human Genetics. 24 , p. 1752–1760

MSX1 and hypodontia, orofacial clefting and the Witkop syndrome

van den Boogaard MJH, Ploos van Amstel JK 2016, p. 703-706

Shift in DNA diagnostics; Shift in Clinical Practise

van den Boogaard MJH 2016,

genetica in de tandheelkunde, presentatie nascholingsavond tandartsen

van den Boogaard MJH 27 Oct 2015,

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Massink Maarten P G, Creton Marijn A. , Spanevello Francesca, Fennis Willem M M, Cune Marco S., Savelberg Sanne M C, Nijman Isaäc J., Maurice Madelon M., vandenBoogaard Marie José H, van Haaften Gijs 1 Oct 2015, In: American Journal of Human Genetics. 97 , p. 621–626

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