Publications by authors named "Christa M de Geus"

3Publications

Guidelines in CHARGE syndrome and the missing link: Cranial imaging.

Authors:
Christa M de Geus Rolien H Free Berit M Verbist Deborah A Sival Kim D Blake Linda C Meiners Conny M A van Ravenswaaij-Arts

Am J Med Genet C Semin Med Genet 2017 12 23;175(4):450-464. Epub 2017 Nov 23.

University of Groningen, University Medical Center Groningen, Center of Expertise for CHARGE syndrome, Groningen, The Netherlands.

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December 2017

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Authors:
Emma M Wade Zandra A Jenkins Philip B Daniel Tim Morgan Marie C Addor Lesley C Adés Debora Bertola Axel Bohring Erin Carter Tae-Joon Cho Christa M de Geus Hans-Christoph Duba Elaine Fletcher Kinga Hadzsiev Raoul C M Hennekam Chong A Kim Deborah Krakow Eva Morava Teresa Neuhann David Sillence Andrea Superti-Furga Hermine E Veenstra-Knol Dagmar Wieczorek Louise C Wilson David M Markie Stephen P Robertson

Am J Med Genet A 2017 Jul 12;173(7):1739-1746. Epub 2017 May 12.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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July 2017

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

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

Eur J Hum Genet 2017 02 21;25(3):308-314. Epub 2016 Dec 21.

The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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February 2017