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ACKNOWLEDGEMENTS

My mentor, Theo Bodin. When I asked you and you said yes, I didn't know what to expect.

We barely knew each other back then, still, I had a feeling you would fit great for the role.

And that became true. Thank you for your never-fading friendly and scientific support.

There are a two additional people that have had notable impact on this research and I would like to take the opportunity to thank them: Magnus Nordenskjöld, thank you for

introducing me to the field of clinical genetics, which lead to this opportunity. My

impression is that you provide the tools to bring out the best of people - I really admire you for that. Matthew Warman, who introduced me to the ddPCR technology in his laboratory in 2014 where I learned skills that I continued to use throughout all my studies. Thank you for taking so good care of me and including me in your group. I would probably not have done exactly these studies without that experience.

Thank you, all co-authors for our collaborations. A special thanks to Vasilios Zachariadis and Inger Nennesmo for involving me in their areas of expertise and teaching me new things.

Thanks to all researchers in the Rare Diseases group and on the entire floor 10 at BioClinicum! I am so privileged to be surrounded by so many talented people. Many thanks to Raquel, Dominyka, Angélica, Marlene, Carolina, Mastoureh, Kristine, Sailan, Isabel, Charlotte, Emili, Benedicte, Maria, Jessica, Catharina, Clara, Blaz, Daniel, Zahra, Hassan, Larry, Samina, Karin, and August for making the work environment to such a friendly and cheerful place! Thanks to Cecilia and Fatemah for sharing experiences on lab work, to José for forcing me to remember the French language, Jesper - I think I have never met such a sunny person as you, thank you for your

contagious joy! Thank you, Nina, for all the support during these years. Anders Kämpe, thank you for always taking the time for a chat by the coffee machine, scientific or not, Alice, for being so kind and helpful, Anna Hammarsjö for being the most awesome desk neighbor at CMM, Jakob Schuy, for being the most awesome desk neighbor at

BioClinicum, Linn Ö and Karin W - thank you for good and up-to-date advice regarding the dissertation process. Katja E, you always have faith in me. Thank you for constantly being so supportive.

To all my colleagues at Clinical Genetics, Karolinska University Hospital; thank you for being encouraging and sharing your knowledge in genetics. You all inspire me to learn more! A special thanks to Erik Iwarsson, my clinical supervisor. I really admire your knowledge and attitude to patients, co-workers and colleagues. I certainly aim to develop

the same aura as you have - You are such a great clinical role model. Thank you, Mia Soller, for facilitating my years as a combined Ph D student and a resident doctor. You understand the challenges with a work environment like that. Thank you for your positive energy - it motivates me to continue developing.

I also want to acknowledge my former colleagues The-Hung Bui, Britt-Marie Anderlid, Elisabeth Syk Lundberg, Eva Rudd and Patrik Georgii-Hemming for sharing

experiences and fascination for genetics during my first year at the clinic. You were also there and inspired me to start this journey.

To my resident colleagues Anders, Bianca, Cecilia, Christoforos, Eini, Emma, Hillevi, Ingegerd, Johanna, Jonas, Josephine, Karin, Max, Nadja: It sometimes hits me how grateful I am to have the best ST-colleagues I could ever imagine. You are hardworking, empathetic, friendly, and funny. Thank you for being so supportive. I also want to thank our French resident colleague Anna G for your cheerful and friendly attitude - à bientôt!

I would like to extend my thanks to all staff at Clinical Genetics for doing such a great job! A special thanks to Karin Kindberg - you are a rock, Helena and Kicki for always sharing your great knowledge in genetics and your assistance in some of my studies. A reach out also to Isabel, Paula, Riffat and Magdalena - thank you for your efforts to get me samples and cells.

Thank you, all staff at CMMS, in particular Martin, Karin, Micke, Rolf, Sofia, Anna, Nicole and Ingela for taking the time and effort to help me progress.

Thank you, Region Stockholm, for funding combined residency and Ph D training (Forskar-ST). Thank you Sällsyntafonden for Sällsyntastipendiet.

The MMK administration and especially Ann-Britt Wikström - thank you for your impeccable help when needed.

Nader, thank you for welcoming me to the Vascular Anomalies team at Karolinska. I learn a lot from our meetings - thank you for this opportunity.

Thank you, Aleksander Marlevi, for giving me guidance in the short term and hopefully in the long run as well - time will find out.

The basis for me to complete this journey was formed during many years and I am

extremely grateful to all my previous teachers and supervisors during the years. I would especially like to acknowledge Ulf Ryding, Katarzyna Inglot, Lars Magnusson, Mattias

Ljung and Annika Solberg: Thank you for believing in me and your kind guidance to help me improve myself.

To my friends,

Amanda, Ella, Elina, Charlotte, Frida, Johanna, Sanna and Sara - Besides my family, you know me the best and I am tremendously grateful for our long friendship. Thank you, my wonderful friends from medical school for always supporting me and inspiring me to do my best: Erika, Josephine, Malena, Sara A, Martin, Maria H, Ingrid, Mathilda, Pelle, Viktor, Sofia W, Zacarias, Kalle J, Emelie, Jonas, Per and Anna. Without you, the university years would have been harder to endure. Thank you, Camilla Rahm, Sofia Hällsten, Lisa, Dessi, Jonatan, Anne, Jakob, Petra, Alexander, Emelie, Fredrik and Andreas, for your inspirational personalities, friendship, and support. Thank you, Sara Hjelm, for +30 years of friendship and more to come. Lastly, Kristoffer Sahlholm, I have learned a lot from you regarding research - thank you.

To my family,

My parents, Lars and Kerstin. Thank you for all your love and support. You have always been there for me. Kerstin, seeing you work late hours by the kitchen table, making sure your teaching lessons always were up-to-date and of best possible quality and you, Lars, always taking your different missions very serious, no matter if it was supervising the armistice agreement on the Korean peninsula or being the “gay general” at

Almedalsveckan, probably did something to me. I guess you two exemplified a standard to me and my brothers to be disciplined with work and not take things for granted. Thank you for raising us with that kind of spirit.

To my brothers Johan and Martin and their wives Helena and Emilia, thank you for all your support and generosity. My brothers have always been a great inspiration to me - I am so grateful to have you in my life. To Elsa, Astrid, Liam and Livia - thank you for being such great role models for my children! To my children Felix and Stella - words are not enough. You are amazing and I love you.

Thank you, Marek and Urszula, for your non-judgmentful and warm approach, embracing me to your family. Thank you, Ewa, Sarah and Andreas, for your cheerful support and kindness. Thank you, Klara, for your inspiring inner power. Marta, without you, this thesis would have taken a lot longer to finalyze - thank you for your help with VAB and more.

And lastly Jonatan, thank you for all your amazing support and inspiration. You are very dedicated to whatever you set your mind to. Your character really inspires me to always do my best. You are such a devoted person and I love you.

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