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Research Department of Genetics PhD theses and Inaugural lectures
University Medical Center Groningen

Recent PhD theses

Theses from 2014 onwards. For earlier theses see here.

Supervisors in italics belong to the Dept of Genetics, UMCG


The Chromosome 6 Project
Aafke Engwerda
Supervisors: Conny van Ravenswaaij-Arts, Adelita Ranchor
Co-supervisor: Mieke Kerstjens
24 January 2024

Early detection of celiac disease: An exploration of clinical features and molecular biomarkers
Ineke Tan
Supervisors: Sebo Withoff, Rinse Weersma, Iris Jonkers
Co-supervisor: M.C. Visschedijk
22 January 2022


Arrhythmogenic cardiomyopathy - beyond monogenetic disease
Edgar Hoorntje
Supervisors: Peter van Tintelen, Prof. M.P. van den Berg
Co-supervisor: Dr. J.D.H. Jongbloed
28 November 2023

Fine-mapping variants and genes that contribute to celiac disease
Roeland Broekema
Supervisors: Dr. Iris Jonkers, Dr. Sebo Withoff
20 November 2023

Using population biobanks to understand complex traits, rare diseases, and their shared genetic architecture
Esteban Lopera Maya
Supervisors: Prof. Sasha Zhernikova, Prof. Cisca Wijmenga
Co-supervisors: Dr. Serena Sanna, Dr. Patrick Deelen
22 May 2023

Increasing the molecular diagnostic yield in genetic diseases using spinocerebellar ataxia (SCA) as a disease model
Fatemah Ghorbani
Promotor: Prof. Dineke Verbeek
Co-promotors: Dr. Cleo van Diemen, Dr. Helga Westers
20 April 2023

Towards the genome clinic of the future - new computational methods to interpret genome variation and diseases
Shuang Li
Supervisors: Prof. Morris Swertz
Co-supervisors: Dr. Joeri van der Velde, Dr. Harm-Jan Westra
15 March 2023

Constructing medical test results: the social shaping of genetic results and their (un)certainty
Julia el Mecky
Supervisors: Prof. Irene van Langen, Prof. A.M. Lucassen
Co-supervisors: Dr. Mirjam Plantinga, Dr. K. Lyle
8 March 2023

Decision making, outcomes and result disclosure in the field surrounding genetic counselling
Jan Voorwinden
Supervisors: Prof. Adelita Ranchor, Prof. Irene van Langen
15 February 2023

Context matters: The power of single-cell analyses in identifying context-dependent effects on gene expression in blood immune cells
Dylan de Vries
Supervisors: Prof. Lude Franke, Prof. Cisca Wijmenga
Co-supervisor: Dr. Monique van der Wijst
14 December 2022

Underexposed features of CHARGE syndrome: immunological, adrenal, and scapular function
Monica Wong
Supervisor: Prof. Conny van Ravenswaaij-Arts
Co-supervisors: Dr. E.H. Scholvinck, Dr. G. Bocca
9 November 2022

A stew of mixed ingredients: observational omics in the post-GWAS era
Olivier Bakker, graduated cum laude
Supervisor: Prof. Sebo Withoff
Co-supervisors: Dr. Iris Withoff, Dr. Yang Li
28 September 2022

Diagnostic applications of Next-Generation Sequencing
Mohamed Alimohamed
Supervisor: Prof. Rolf Sijmons
Co-supervisors: Dr. Birgit Raddatz, Dr. Helga Westers
1 June 2022

Molecular genetics of monogenic movement disorders: making meaning of rare variants
Kai Yu Ma
Supervisors: Dr. Dineke Verbeek, Prof. Teus van Laar
30 May 2022

Genetic determinants of human phenotypes: understanding human infectious diseases by computational biology methods
Zhenhua Zhang
Supervisors: Prof. Morris Swertz, Prof. Yang Li
Co-supervisor: Dr. Joeri van der Velde
28 April 2022

Observational causality from -omics
Adriaan van der Graaf
Supervisors: Prof. Lude Franke, Prof. Cisca Wijmenga
Co-supervisor: Dr. Serena Sanna
19 January 2022


Multi-omics integration to understand immune system
Xiaojing Chu
Supervisors: Dr. Sebo Withoff, Dr. Yang Li
3 November 2021

Understanding the complexity of inflammatory bowel disease from a multi-omics perspective
Shixian Hu
Supervisors: Prof. Rinse Weersma, Prof. Jingyuan Yang-Fu
Co-supervisor: Dr. Arnau Vich Vila
1 November 2021

Ataxia and dystonia: from individual genes to networks and disease mechanisms
Miaozhen Huang
Supervisors: Dr. Dineke Verbeek, Prof. M.A.J. de Koning-Tijssen
25 October 2021

Genetic regulation of gene expression in brain and blood
Niek de Klein
Supervisors: Prof. Lude Franke, Prof. Cisca Wijmenga
13 September 2021

Implementing Population-based Expanded Carrier Screening Reporting Couple Results Only: A Mixed Methods Approach
Juliëtte Schuurmans
Supervisors: Prof. Irene van Langen, Prof. Anneke Lucassen, Prof. Adelita Ranchor
Co-supervisor: Dr. Mirjam Plantinga
28 June 2021

Environment-host-microbe interactions shape human metabolism
Lianmin Chen, graduated cum laude
Supevisors: Prof. Jingyuan Yang-Fu, Prof. Folkert Kuipers, Prof. Alexandra Zhernakova
22 June 2021


Core gene identification using gene expression
Annique Claringbould
Supervisors: Prof Lude Franke, Prof Cisca Wijmenga
2 December 2020

Celiac disease: from genetic variation to molecular culprits
Maria Zorro
Supervisors: Prof Cisca Wijmenga, Dr Sebo Withoff, Dr Iris Jonkers
22 April 2020


Understanding the gut ecosystem: bugs, drugs & diseases
Arnau Vich Vila, graduated cum laude
Supervisors: Rinse Weersma, Sasha Zhernakova
2 December 2019

Genomic heterogeneity of clear cell renal cell carcinoma
Paranita Ferronika
Supervisor: Rolf Sijmons. Co-supervisors: Klaas Kok, Helga Westers.
26 November 2019

Genetic susceptibility for inflammatory bowel disease across ethnicities and diseases
Suzanne van Sommeren
Supervisors: Rinse Weersma and Cisca Wijmenga
25 November 2019

Next Generation Sequencing Guided Molecular Diagnostic Tests in Non-small-cell Lung Cancer
Jiacong Wei
Supervisors: Anke van den Berg and Harry Groen. Co-supervisor: Klaas Kok
19 November 2019

Functional genomics approach to understanding sepsis heterogeneity
Kieu Le
Supervisors: Cisca Wijmenga. Co-supervisors: Jill Moser andVinod Magadi Gopalaiah
16 October 2019

Paediatric cardiomyopathies – An evolving landscape of genetic etiology and diagnostic applications
Anne Herkert
Supervisors: Irene van Langen, M.P. van den Berg. Co-supervisor: J.D.H. Jongbloed
16 October 2019

Integrative omics to understand human immune variation
Raúl Aguirre-Gamboa
Supervisors: Cisca Wijmenga. Co-supervisor: Yang Li
14 October 2019

Looking through the noise – Novel algorithms for genetic variant detection
Lennart Johansson
Supervisors: Rolf Sijmons, Morris Swertz. Co-supervisor: Birgit Sikkema-Raddatz
25 September 2019

Young-onset movement disorders – g enetic advances require a new clinical approach
Maartje van Egmond
Supervisor: Marina de Koning-Tijssen. Co-supervisor: Tom de Koning
3 July 2019

Towards finding and understanding the missing heritability of immune-mediated diseases
Isis Ricaño Ponce
Supervisor: Cisca Wijmenga. Co-supervisor: Vinod Magadi Gopalaiah
3 June 2019

Decoding non-coding RNAs in fatty liver disease
Biljana Atanasovska
Supervisors: Jingyuan Yang-Fu and Cisca Wijmenga
20 May 2019

The gut microbiome in intestinal diseases
Floris Imhann , graduated cum laude
Supervisors: Rinse Weersma and Cisca Wijmenga
15 May 2019

Multi-omics strategies for detecting gene-environment interactions
Patrick Deelen
Supervisors: Morris Swertz, Lude Franke and Cisca Wijmenga
6 May 2019

A systems genomics approach to identify risk loci and pathways to Candida infection
Vicky Matzaraki
Supervisor: Cisca Wijmenga. Co-supervisor: Vinod Magadi Gopalaiah
6 March 2019

Towards personalised treatment of patients with colorectal liver metastases
Joost Hof
Supervisors: Rolf Sijmons, K.P. de Jong. Co-supervisor: Klaas Kok
27 Febrary 2019


Genotyping and phenotyping epilepsies of childhood
Danique Vlaskamp
Supervisors: Conny van Ravenswaaij-Aarts, Oebo Brower
5 December 2018

Inflammatory Bowel Disease: 'New genes, rare variants & moving towards clinical practice'
Marijn Visschedijk
Supervisors: Rinse Weersma, Cisca Wijmenga
5 September 2018

Integration techniques for modern bioinformatics workflows
Alex Kanterakis
Supervisors: Morris Swertz, Cisca Wijmenga
11 July 2018

Young-onset movement disorders. Genetic advances require a new clinical approach
Martje E. van Egmond
Supervisors: MAJ de Koning-Tijssen, Tom J de Koning

Computational methods for data discovery, harmonization and integration
Chao Pang
Supervisors: Morris Swertz, JL Hillege
3 July 2018

Exon skipping therapy for dystrophic epidermolysis bullosa
Jeroen Bremer
Supervisor: MF Jonkman, Co-supervisors: AMG Pasmooij, Peter van den Akker
25 April 2018

Gene expression studies. From basic research to the clinic
Juha M. Karjalainen
Supervisors: Cisca Wijmenga, Lude Franke
15 January 2018

Translational software infrastructure for medical genetics
K. Joeri van der Velde
Supervisors: Morris Swertz, Richard Sinke, Co-supervisor: Yang Li
8 January 2018


CHARGE syndrome: CHD7 mutations, heart defects and overlapping syndromes
Nicole Corsten-Janssen
Supervisors: Conny van Ravenswaaij
11 October 2017

The genetics of spinocerebellar ataxia and dystonia
Esther AR Nibbeling
Supervisors: Dineke Verbeek, Richard Sinke, M.A. de Koning-Tijssen; Co-supervisors: Conny van Ravenswaaij, F Baas, HPH Kremer
29 March 2017

The interplay between genetics, the microbiome, DNA-methylation & gene‐expression
Marc Jan Bonder, graduated cum laude
Supervisors: Cisca Wijmenga, Lude Franke; Co-supervisor: Alexandra Zhernakova
22 March 2017


supervisors in italics belong to the Dept of Genetics, UMCG

From bugs to buttermilk: epidemiological and molecular aspects of gut health
Ettje F. Tigchelaar-Feenstra
Supervisors: Cisca Wijmenga, EJM Feskens
14 December 2016

SETD2 and PBRM1 inactivation in the development of clear cell renal cell carcinoma
Jun Li
Supervisors: Rolf Sijmons, JHM van den Berg, Co-supervisors: Klaas Kok, Helga Westers, JL Kluiver
28 September 2016

Multi-omics approaches for better understanding of the downstream effects of genetic risk factors
Daria Zhernakova
Supervisors: Lude Franke, Cisca Wijmenga
12 September 2016

Genetics of Hirschsprung disease. Rare variants, in vivo analysis and expression profiling
Duco Schriemer, Departments of Genetics and of Neuroscience, UMCG
Supervisor: Robert Hofstra (now at Erasmus MC); Co-supervisor: BJL Eggen
20 June 2016

Unravelling the genetic basis of hereditary disorders by high-throughput exome sequencing strategies
Omid Jazayeri
Supervisor: Richard Sinke, Co-supervisor: Behrooz Alizadeh
20 June 2016

Enhancing genetic discoveries with population-specific reference panels
Serena Sanna (external PhD candidate from Institute of Biomedical and Genetic Research, Cagliari, Italy)
Supervisors: Cisca Wijmenga, Lude Franke
9 May 2016

Data quality and methodology in studies on maternal medication use in relation to congenital anomalies
Linda de Jonge
Supervisors: Irene van Langen, Lolkje de Jong-van den Berg, Marian Bakker
2 March 2016

The molecular neuropathology of spinocerebellar ataxia type 23
Cleo Smeets
Supervisor: Richard Sinke, Co-supervisor: Dineke Verbeek
2 March 2016


Introducing eHealth and other innovative options into clinical genetic patient care in view of increased efficiency and maintenance of quality of care: patients' and providers' perspectives
Ellen Otten
Supervisors: Irene van Langen, AV Ranchor, E Birnie
7 December 2015

HLA and other tales: The different perspectives of Celiac Disease
Javier Gutierrez Achury
Supervisors: Cisca Wijmenga, Alexandra (Sasha) Zhernakova
Now a postdoc with Carl Andersen, at Sanger Centre, Cambridge, UK (more about Javier Gutierrez Achury)
2 December 2015

Finding the missing 'LiNCs' in celiac disease
Barbara Hrdličková
Supervisor: C Wijmenga, Co-supervisors: S Withoff, V Kumar
11 May 2015, full text of thesis

Matters of the heart: genetic and molecular characterisation of cardiomyopathies
Anna Pósafalvi, PharmD
Supervisor: RJ Sinke, Co-supervisor: JDH Jongbloed
20 April 2015, full text of thesis

Beyond genome wide association studies in celiac disease by exploring the non-coding genome
Rodrigo Coutinho de Almeida
Supervisor: C Wijmenga, Co-supervisor: S Withoff
25 March 2015, full text

Genetic etiology of type 2 diabetes. From gene identification to functional genomics
MR (Mike) Erdos, Senior Staff Scientist in the Collins laboratory at the National Center for Human Genome Research, NIH (Bethesda, USA) in cooperation with Dept of Genetics, UMCG
Supervisors: C Wijmenga, MH Hofker, FS Collins
18 March 2015, full text

Health of children born to subfertile couples : aetiological pathways and neurodevelopmental correlates
Jorien Seggers
Supervisors: M Hadders-Algra, MJ Heineman Co-supervisor: ML Haadsma
16 February 2015, full text

Medullary Thyroid Carcinoma. From diagnosis to treatment
HHG (Hans) Verbeek, MD
Supervisors: TP Links, JTM Plukker, RMW Hofstra
7 January 2015, full text

Mieke Kerstjens-Frederikse thesis
Mieke Kerstjens-Frederikse thesis


supervisors in italics belong to the Dept of Genetics, UMCG

Genetic origin of Dupuytren’s disease and associated fibromatosis
GHCG (Guido) Dolmans MD
Supervisors: PMN Werker, C Wijmenga
24 November 2014, full text of thesis

Interpreting disease genetics using functional genomics
Harm-Jan Westra, graduated cum laude
Supervisors: L Franke, C Wijmenga
17 September 2014, full text

Congenital heart defects and pulmonary arterial hypertension. Genes, environment and heredity
WS (Mieke) Kerstjens-Frederikse
Supervisors: RMW Hofstra, RMF Berger
2 July 2014, full text

Inflammatory bowel disease: the genetic background and beyond
Karin Fransen
Supervisors: C Wijmenga, RK Weersma, Co-supervisor: CC van Diemen
16 June 2014, full text

Marfan syndrome and related connective tissue disorders: cardiologic and genetic aspects
Jan JJ Aalberts
Supervisors: IM van Langen, MP van den Berg, Co-supervisor: JP van Tintelen
23 April 2014, full text

Karin v Spaendonck thesis
Karin v Spaendonck thesis

Inherited cardiomyopathies. Genetics and gene-environment interactions
Karin van Spaendonck
Supervisors: IM van Langen, MP van den Berg, Co-supervisor: JP van Tintelen
5 March 2014, full text of thesis

Understanding the origin of congenital heart disease
Maria Eline (Marlies) Smilde-Baardman
Supervisors: RMW Hofstra, RMF Berger, Co-supervisors: MK Bakker, T. Plosch
5 February 2014, full text

Laatst gewijzigd:07 mei 2024 11:19