1. Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. Issue 10 (22nd August 2018) Authors: Pettersson, Maria; Vaz, Raquel; Hammarsjö, Anna; Eisfeldt, Jesper; Carvalho, Claudia M.B.; Hofmeister, Wolfgang; Tham, Emma; Horemuzova, Eva; Voss, Ulrika; Nishimura, Gen; Klintberg, Bo; Nordgren, Ann; Nilsson, Daniel; Grigelioniene, Giedre; Lindstrand, Anna Journal: Human mutation Issue: Volume 39:Issue 10(2018) Page Start: 1456 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Circulating biomarkers for early detection and clinical management of colorectal cancer. (October 2019) Authors: Marcuello, María; Vymetalkova, Veronika; Neves, Rui P.L.; Duran-Sanchon, Saray; Vedeld, Hege Marie; Tham, Emma; van Dalum, Guus; Flügen, Georg; Garcia-Barberan, Vanesa; Fijneman, Remond JA.; Castells, Antoni; Vodicka, Pavel; Lind, Guro E.; Stoecklein, Nikolas H.; Heitzer, Ellen; Gironella, Meritxell Journal: Molecular aspects of medicine Issue: Volume 69(2019) Page Start: 107 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer. Issue 2 (16th November 2015) Authors: Thompson, Deborah J; O'Mara, Tracy A; Glubb, Dylan M; Painter, Jodie N; Cheng, Timothy; Folkerd, Elizabeth; Doody, Deborah; Dennis, Joe; Webb, Penelope M; Gorman, Maggie; Martin, Lynn; Hodgson, Shirley; Michailidou, Kyriaki; Tyrer, Jonathan P; Maranian, Mel J; Hall, Per; Czene, Kamila; Darabi, Ha... Journal: Endocrine-related cancer Issue: Volume 23:Issue 2(2016) Page Start: 77 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Exome sequencing in 51 early onset non‐familial CRC cases. Issue 5 (27th February 2019) Authors: Thutkawkorapin, Jessada; Lindblom, Annika; Tham, Emma Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 5(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2. (4th January 2018) Authors: Leal, Gabriela Ferraz; Nishimura, Gen; Voss, Ulrika; Bertola, Débora Romeo; Åström, Eva; Svensson, Johan; Yamamoto, Guilherme Lopes; Hammarsjö, Anna; Horemuzova, Eva; Papadogiannakis, Nikos; Iwarsson, Erik; Grigelioniene, Giedre; Tham, Emma Journal: Journal of bone and mineral research Issue: Volume 33:Number 4(2018) Page Start: 753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2. (4th January 2018) Authors: Leal, Gabriela Ferraz; Nishimura, Gen; Voss, Ulrika; Bertola, Débora Romeo; Åström, Eva; Svensson, Johan; Yamamoto, Guilherme Lopes; Hammarsjö, Anna; Horemuzova, Eva; Papadiogannakis, Nikos; Iwarsson, Erik; Grigelioniene, Giedre; Tham, Emma Journal: Journal of bone and mineral research Issue: Volume 33:Number 4(2018) Page Start: 753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Functional characterization of novel germline TP53 variants in Swedish families. Issue 3 (2nd July 2019) Authors: Kharaziha, Pedram; Ceder, Sophia; Axell, Olga; Krall, Moritz; Fotouhi, Omid; Böhm, Stefanie; Lain, Sonia; Borg, Åke; Larsson, Catharina; Wiman, Klas G.; Tham, Emma; Bajalica‐Lagercrantz, Svetlana Journal: Clinical genetics Issue: Volume 96:Issue 3(2019) Page Start: 216 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genetic overlap between endometriosis and endometrial cancer: evidence from cross‐disease genetic correlation and GWAS meta‐analyses. (2nd April 2018) Authors: Painter, Jodie N.; O'Mara, Tracy A.; Morris, Andrew P.; Cheng, Timothy H. T.; Gorman, Maggie; Martin, Lynn; Hodson, Shirley; Jones, Angela; Martin, Nicholas G.; Gordon, Scott; Henders, Anjali K.; Attia, John; McEvoy, Mark; Holliday, Elizabeth G.; Scott, Rodney J.; Webb, Penelope M.; Fasching, Pet... Journal: Cancer medicine Issue: Volume 7:Number 5(2018:May) Page Start: 1978 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Genomic profile – a possible diagnostic and prognostic marker in upper tract urothelial carcinoma. (29th August 2021) Authors: Grahn, Alexandra; Eisfeldt, Jesper; Malm, Camilla; Foroughi Asl, Hassan; Jaremko, Georg; Tham, Emma; Brehmer, Marianne Journal: BJU international Issue: Volume 130:Number 1(2022) Page Start: 92 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Genotype‐Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information. (7th June 2018) Authors: Tham, Emma; Grigelionis, Gintautas; Hammarsjö, Anna; Grigelioniene, Giedre Journal: Journal of bone and mineral research Issue: Volume 33:Number 7(2018) Page Start: 1377 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗