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Genetically isolated populations
Implications for genetic care
Mathijssen, I.B.
Publication date
2018
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Citation for published version (APA):
Mathijssen, I. B. (2018). Genetically isolated populations: Implications for genetic care.
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Inge B. Mathijssen
GENETICALL
Y ISOLA
TED POPULA
TIONS
implications for genetic care
Inge B. Mathijssen
GENETICALLY ISOLATED POPULATIONS
implications for genetic care
GENETICALLY ISOLATED POPULATIONS
implications for genetic care
Academic thesis, University of Amsterdam, Amsterdam, The Netherlands ISBN 978-94-6299-892-6
Author I.B. Mathijssen
Cover design I.B. Mathijssen / W. van Est Layout W. van Est / E. Roos Print Ridderprint BV
Part of the research described in this thesis was financially supported by the the Netherlands Organization for Health Research and Development (ZonMw grant no. 209040001 and no. 91113022), the Netherlands Genomics Initiative at the Centre for Medical Systems Biology (CMSB2), the MD Fonds Nederland, Rotterdamse Vereniging Blindenbelangen, Stichting Oogfonds Nederland, Landelijke Stichting voor Blinden en Slechtzienden, Retina Nederland, Gelderse Blinden Stichting, through the UitZicht Foundation (grant no. 2009-4).
Copyright © 2018, I.B. Mathijssen, Amsterdam, The Netherlands. All rights reserved. No part of this thesis may be reproduced or transmitted in any form or by any means, without prior written permission of the author or, when appropriate, of the publishers of the publications.
GENETICALLY ISOLATED POPULATIONS
implications for genetic care
ACADEMISCH PROEFSCHRIFT
ter verkrijging van de graad van doctor
aan de Universiteit van Amsterdam
op gezag van de Rector Magnificus
prof. dr. ir. K.I.J. Maex
ten overstaan van een door het College voor Promoties ingestelde commissie,
in het openbaar te verdedigen in de Aula der Universiteit
op woensdag 4 april 2018, te 13.00 uur
door
Inge Babette Mathijssen
geboren te Haarlem
Promotor:
Prof. dr. E.J. Meijers-Heijboer AMC-UvA
Copromotores:
Dr. L. Henneman
Vrije Universiteit Amsterdam
Dr. M.C. van Maarle
AMC-UvA
Overige leden:
Prof. dr. M.H. Breuning
Universiteit Leiden
Dr. W.J. Dondorp
Universiteit Maastricht
Prof. dr. E. Pajkrt
AMC-UvA
Prof. dr. D. Posthuma
Vrije Universiteit Amsterdam
Prof. dr. S. Repping
AMC-UvA
Prof. dr. E.M.A. Smets
AMC-UvA
Faculteit der Geneeskunde
TABLE OF CONTENTS
Chapter 1 General introduction and outline of the thesis
PART I Identified genes and phenotypic variation in a specific genetically isolated
population
Chapter 2 Further delineation of the phenotype caused by mutations in the PSMC3IP gene
Submitted
Chapter 3 Identification of a Dutch founder mutation in MUSK causing fetal akinesia
deformation sequence
Eur J Hum Genet 2015;23:1151-1157
Chapter 4 Long-term follow-up of patients with Retinitis Pigmentosa type 12 caused by CRB1
mutations; a severe phenotype with considerable interindividual variability
Retina 2017;37:161-172
PART II Implementation of preconception carrier screening in a specific genetically
isolated population
Chapter 5 Targeted carrier testing for four recessive disorders: High detection rate within a
founder population
Eur J Med Genet 2015;58:123-128
Chapter 6 Preconception carrier screening for multiple disorders: evaluation of a screening
offer in a Dutch founder population
Eur J Hum Genet 2018;doi: 10.1038/s41431-017-0056-4
Chapter 7 Factors for successful implementation of population-based expanded carrier
screening: Learning from existing initiatives
Eur J Public Health 2017;27:372-377
Chapter 8 With expanded carrier screening, founder populations run the risk of being
overlooked
J Community Genet 2017;8:327-333
PART III General discussion and summary
Chapter 9 General discussion and future perspectives
Chapter 10 Summary / Samenvatting
& Contributing authors
About the author List of publications Dankwoord
Appendices: Media Attention
9 27 45 61 87 105 133 153 169 193 209 215 217 223 227
