
Recent PhD theses
Theses from 2014 onwards. For earlier theses see here.
Supervisors in italics belong to the Dept of Genetics, UMCG
2025
Gut microbial dynamics in ageing and immune deficiency: from general population to people living with HIV
Yue Zhang
Supervisors: Prof. Jingyuan Fu, Prof. A. van der Ven, Prof. Sasha Zhernakova
30 April 2025
Mom matters: maternal influences on infant gut microbiome and health
Trishla Sinha, graduated cum laude
Supervisors: Prof. Sasha Zhernakova, Prof. S.A. Scherjon
Co-supervisor: Arnau Vich-Vila
2 April 2025
The human gut virome: dark matter of the human gut universe
Sana Garmaeva, graduated cum laude
Supervisors: Prof. Sasha Zhernakova, Prof. Jingyuan Fu
12 February 2025
Re-creating the human intestine at microscale: using induced pluripotent stem cells and organ-on-chip systems
Renée Moerkens, graduated cum laude
Supervisors: Prof. Sebo Withoff, Prof. Iris Jonkers, Prof. Cisca Wijmenga
22 January 2025
2024
The relations of the gut microbiome, diet and health outcomes at different stages of human life
Siobhan Brushett
Supervisors: Prof. Sasha Zhernakova, Prof. Menno Rijneveld, Prof. Marlou de Kroon
11 December 2024
Accelerating health research using linked data and virtual reality
Alexander Kellmann
Supervisor: Prof. Morris Swertz
Co-supervisors: Dr. Esther Enckevort, Dr. Joeri van der Velde
9 December 2024
Feeding the infant gut microbes
Johanne Spreckels
Supervisors: Prof. Sasha Zhernakova, Prof. Jingyuan Fu
Co-supervisor: Dr. Ranko Gacesa
29 November 2024
Exploring the overlapping genetic and molecular hippocampal mechanisms between Alzheimer’s disease and depression
Bente Hofstra
Supervisors: Prof. Dineke Verbeek, Prof. Martien Kas
27 November 2024
Variations in gut bacterial metabolism associate with host health
Lei Liu
Supervisors: Prof. Hermie Harmsen, Prof. Jingyuan Fu, Prof. John Rossen
13 November 2024
Molecular Mapping of Celiac Disease: A Journey from Biomarkers to Tissues
Aarón Ramirez Sanchez
Supervisors: Prof. Iris Jonkers, Prof. Sebo Withoff
17 July 2024
Immune, metabolic, and microbial aspects of human health and aging
Sergio Andreu Sánchez, graduated cum laude
Supervisors: Prof. Jingyuan Fu, Prof. Sasha Zhernakova
28 June 2024
Zooming in on the role of individual inflammatory cells in ischemic heart disease 
Irene van Blokland
Supervisors: Prof. Lude Franke, Prof. Pim van der Harst
Co-supervisors: Dr. Monique van der Wijst, Dr. H.E. Groot-Nauta
27 June 2024
The Chromosome 6 Project 
Aafke Engwerda
Supervisors: Prof. Conny van Ravenswaaij-Arts, Prof. Adelita Ranchor
Co-supervisor: Dr. Mieke Kerstjens
24 January 2024
Early detection of celiac disease: An exploration of clinical features and molecular biomarkers 
Ineke Tan
Supervisors: Prof. Sebo Withoff, Prof. Rinse Weersma, Prof. Iris Jonkers
Co-supervisor: Dr. M.C. Visschedijk
22 January 2022
2023
Arrhythmogenic cardiomyopathy - beyond monogenetic disease 
Edgar Hoorntje
Supervisors: Prof. 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
2022 
 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
2021
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
2020
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
2019
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
2018
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 
TBA
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
2017
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
2016
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
2015
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

2014
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
               

                  
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