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2023
Mark Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy
Nordenskjöld, Agneta ; Arkani, Samara ; Pettersson, Maria ; Winberg, Johanna ; Cao, Jia ; Fossum, Magdalena ; Anderberg, Magnus ^LU ; Barker, Gillian ; Holmdahl, Gundela and Lundin, Johanna (2023) In American Journal of Medical Genetics, Part A 191(2). p.378-390
- Contribution to journal › Article
2022
Mark First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B
Gehlen, Jan ; Giel, Ann-Sophie ; Köllges, Ricarda ; Haas, Stephan L ; Zhang, Rong ; Trcka, Jiri ; Sungur, Ayse Ö ; Renziehausen, Florian ; Bornholdt, Dorothea and Jung, Daphne , et al. (2022) In Human Genetics and Genomics Advances 3(2). p.1-8
- Contribution to journal › Article
2020
Mark SLC20A1 Is Involved in Urinary Tract and Urorectal Development
Rieke, Johanna Magdalena ; Zhang, Rong ; Braun, Doreen ; Yilmaz, Öznur ; Japp, Anna S. ; Lopes, Filipa M. ; Pleschka, Michael ; Hilger, Alina C. ; Schneider, Sophia and Newman, William G. , et al. (2020) In Frontiers in Cell and Developmental Biology 8.
- Contribution to journal › Article
2019
Mark Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene
Lundin, Johanna ; Markljung, Ellen ; Baranowska Körberg, Izabella ; Hofmeister, Wolfgang ; Cao, Jia ; Nilsson, Daniel ; Holmdahl, Gundela ; Barker, Gillian ; Anderberg, Magnus ^LU and Vukojević, Vladana , et al. (2019) In Molecular Genetics and Genomic Medicine 7(6).
- Contribution to journal › Article
Mark Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis
Fadista, João ^LU ; Skotte, Line ; Geller, Frank ; Bybjerg-Grauholm, Jonas ; Gørtz, Sanne ; Romitti, Paul A. ; Caggana, Michele ; Kay, Denise M. ; Matsson, Hans and Boyd, Heather A. , et al. (2019) In Human Molecular Genetics 28(2). p.332-340
- Contribution to journal › Article
2017
Mark Self-assessed remission rates after electroconvulsive therapy of depressive disorders
Brus, O. ; Cao, Y. ; Gustafsson, E. ; Hultén, Magnus ; Landen, M. ; Lundberg, J. ; Nordanskog, P. ^LU and Nordenskjöld, Agneta (2017) In European Psychiatry 45. p.154-160
- Contribution to journal › Article
Mark ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development
Zhang, Rong ; Knapp, Michael ; Suzuki, Kentaro ; Kajioka, Daiki ; Schmidt, Johanna M. ; Winkler, Jonas ; Yilmaz, Öznur ; Pleschka, Michael ; Cao, Jia and Kockum, Christina Clementson ^LU , et al. (2017) In Scientific Reports 7.
- Contribution to journal › Article
2015
Mark No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations.
Winberg, Johanna ; Berggren, Håkan ; Malm, Torsten ^LU ; Johansson, Sune ^LU ; Johansson, Jens ^LU ; Nilsson, Boris ; Liedén, Agne ; Nordenskjöld, Agneta ; Gustavsson, Peter and Nordgren, Ann (2015) In European Journal of Medical Genetics 58(3). p.129-133
- Contribution to journal › Article
Mark WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.
Baranowska Körberg, Izabella ; Hofmeister, Wolfgang ; Markljung, Ellen ; Cao, Jia ; Nilsson, Daniel ; Ludwig, Michael ; Draaken, Markus ; Holmdahl, Gundela ; Barker, Gillian and Reutter, Heiko , et al. (2015) In Human Molecular Genetics 24(18). p.5069-5078
- Contribution to journal › Article
2014
Mark A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement
Soderhall, Cilla ; Lundin, Johanna ; Lagerstedt-Robinson, Kristina ; Grigelioniene, Giedre ; Lackgren, Goran ; Clementson Kockum, Christina ^LU and Nordenskjold, Agneta (2014) In European Journal of Pediatric Surgery 24(4). p.353-359
- Contribution to journal › Article

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