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2024
Mark A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
Eisfeldt, Jesper ; Ameur, Adam ; Lenner, Felix ; Berk de Boer, Esmee Ten ; Ek, Marlene ; Wincent, Josephine ; Vaz, Raquel ; Ottosson, Jesper ; Jonson, Tord ^LU and Ivarsson, Sofie , et al. (2024) In Genome Research 34(11). p.1774-1784
- Contribution to journal › Article
2022
Mark Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis
Eisfeldt, Jesper ; Schuy, Jakob ; Stattin, Eva-Lena ; Kvarnung, Malin ; Falk, Anna ^LU ; Feuk, Lars and Lindstrand, Anna (2022) In International Journal of Molecular Sciences 23(16).
- Contribution to journal › Article
Mark Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan
Stattin, Eva-Lena ; Lindblom, Karin ^LU ; Struglics, André ^LU ; Önnerfjord, Patrik ^LU ; Goldblatt, Jack ; Dixit, Abhijit ; Sarkar, Ajoy ; Randell, Tabitha ; Suri, Mohnish and Raggio, Cathleen , et al. (2022) In Scientific Reports 12. p.1-13
- Contribution to journal › Article
2019
Mark Exercise related sudden cardiac death (SCD) in the young — Pre-mortal characterization of a Swedish nationwide cohort, showing a decline in SCD among athletes
Wisten, Aase ; Börjesson, Mats ; Krantz, Peter ^LU and Stattin, Eva Lena (2019) In Resuscitation 144. p.99-105
- Contribution to journal › Article
2018
Mark Unravelling the mystery behind sudden death in the young : a wake-up call for nationwide autopsy-based approach-Authors' reply
Wisten, Aase ; Krantz, Peter ^LU and Stattin, Eva Lena (2018) In Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 20(FI2). p.273-274
- Contribution to journal › Letter
2017
Mark Sudden cardiac death among the young in Sweden from 2000 to 2010 : An autopsy-based study
Wisten, Aase ; Krantz, Peter ^LU and Stattin, Eva Lena (2017) In Europace 19(8). p.1327-1334
- Contribution to journal › Article
2016
Mark Genetic screening in sudden cardiac death in the young can save future lives
Stattin, Eva-Lena ; Westin, Ida Maria ; Cederquist, Kristina ; Jonasson, Jenni ; Jonsson, Bjoern-Anders ; Moerner, Stellan ; Norberg, Anna ; Krantz, Peter ^LU and Wisten, Aase (2016) In International Journal of Legal Medicine 130(1). p.59-66
- Contribution to journal › Article
Mark Chondrocytes derived from mesenchymal stromal cells and induced pluripotent cells of patients with familial osteochondritis dissecans exhibit an endoplasmic reticulum stress response and defective matrix assembly
Xu, Maojia ; Stattin, Eva Lena ; Shaw, Georgina ; Heinegård, Dick ^LU ; Sullivan, Gareth ; Wilmut, Ian ; Colman, Alan ; Önnerfjord, Patrik ^LU ; Khabut, Areej ^LU and Aspberg, Anders ^LU , et al. (2016) In Stem cells translational medicine 5(9). p.1171-1181
- Contribution to journal › Article
2011
Mark Mutation Update for the PORCN Gene
Lombardi, Maria Paola ; Bulk, Saskia ; Celli, Jacopo ; Lampe, Anne ; Gabbett, Michael T. ; Ousager, Lillian Bomme ; van der Smagt, Jasper J. ; Soller, Maria ^LU ; Stattin, Eva-Lena and Mannens, Marcel A. M. M. , et al. (2011) In Human Mutation 32(7). p.723-728
- Contribution to journal › Article
2010
Mark A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans
Stattin, Eva-Lena ; Wiklund, Fredrik ; Lindblom, Karin ^LU ; Önnerfjord, Patrik ^LU ; Jonsson, Bjorn-Anders ; Tegner, Yelverton ; Sasaki, Takako ; Struglics, André ^LU ; Lohmander, Stefan ^LU and Dahl, Niklas , et al. (2010) In American Journal of Human Genetics 86(2). p.126-137
- Contribution to journal › Article

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