1. A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis. Issue 3 (7th August 2020) Authors: Schiff, Elena R.; Daich Varela, Malena; Robson, Anthony G.; Pierpoint, Karen; Ba‐Abbad, Rola; Nutan, Savita; Zein, Wadih M.; Ullah, Ehsan; Huryn, Laryssa A.; Tuupanen, Sari; Mahroo, Omar A.; Michaelides, Michel; Burke, Derek; Harvey, Katie; Arno, Gavin; Hufnagel, Robert B.; Webster, Andrew R. Other Names: Hufnagel Robert guestEditor.; Walter Michael guestEditor.; Arno Gavin guestEditor. Journal: American journal of medical genetics Issue: Volume 184:Issue 3(2020) Page Start: 631 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes. (4th March 2022) Authors: Lähteenoja, Laura; Häkli, Sanna; Tuupanen, Sari; Kuismin, Outi; Palosaari, Tapani; Rahikkala, Elisa; Falck, Aura Journal: Ophthalmic genetics Issue: Volume 43:Number 2(2022) Page Start: 152 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Comprehensive evaluation of coding region point mutations in microsatellite‐unstable colorectal cancer. Issue 9 (14th August 2018) Authors: Kondelin, Johanna; Salokas, Kari; Saarinen, Lilli; Ovaska, Kristian; Rauanheimo, Heli; Plaketti, Roosa‐Maria; Hamberg, Jiri; Liu, Xiaonan; Yadav, Leena; Gylfe, Alexandra E; Cajuso, Tatiana; Hänninen, Ulrika A; Palin, Kimmo; Ristolainen, Heikki; Katainen, Riku; Kaasinen, Eevi; Tanskanen, Tomas; Aa... Journal: EMBO molecular medicine Issue: Volume 10:Issue 9(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42 103 individuals. Issue 6 (5th April 2012) Authors: Dunlop, Malcolm G; Tenesa, Albert; Farrington, Susan M; Ballereau, Stephane; Brewster, David H; Koessler, Thibaud; Pharoah, Paul; Schafmayer, Clemens; Hampe, Jochen; Völzke, Henry; Chang-Claude, Jenny; Hoffmeister, Michael; Brenner, Hermann; von Holst, Susanna; Picelli, Simone; Lindblom, Annika; ... Journal: Gut Issue: Volume 62:Issue 6(2013) Page Start: 871 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients. (June 2013) Authors: Tanskanen, Tomas; Gylfe, Alexandra E.; Katainen, Riku; Taipale, Minna; Renkonen-Sinisalo, Laura; Mecklin, Jukka-Pekka; Järvinen, Heikki; Tuupanen, Sari; Kilpivaara, Outi; Vahteristo, Pia; Aaltonen, Lauri A. Journal: Scandinavian journal of gastroenterology Issue: Volume 48:Number 6(2013) Page Start: 672 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer. Issue 3 (13th January 2014) Authors: Cajuso, Tatiana; Hänninen, Ulrika A.; Kondelin, Johanna; Gylfe, Alexandra E.; Tanskanen, Tomas; Katainen, Riku; Pitkänen, Esa; Ristolainen, Heikki; Kaasinen, Eevi; Taipale, Minna; Taipale, Jussi; Böhm, Jan; Renkonen‐Sinisalo, Laura; Mecklin, Jukka‐Pekka; Järvinen, Heikki; Tuupanen, Sari; Kilpivaa... Journal: International journal of cancer Issue: Volume 135:Issue 3(2014:Aug. 01) Page Start: 611 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genome‐wide association study and meta‐analysis in Northern European populations replicate multiple colorectal cancer risk loci. Issue 3 (12th October 2017) Authors: Tanskanen, Tomas; van den Berg, Linda; Välimäki, Niko; Aavikko, Mervi; Ness‐Jensen, Eivind; Hveem, Kristian; Wettergren, Yvonne; Bexe Lindskog, Elinor; Tõnisson, Neeme; Metspalu, Andres; Silander, Kaisa; Orlando, Giulia; Law, Philip J.; Tuupanen, Sari; Gylfe, Alexandra E.; Hänninen, Ulrika A.; Ca... Journal: International journal of cancer Issue: Volume 142:Issue 3(2018) Page Start: 540 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer. Issue 12 (6th April 2017) Authors: Rodriguez‐Broadbent, Henry; Law, Philip J.; Sud, Amit; Palin, Kimmo; Tuupanen, Sari; Gylfe, Alexandra; Hänninen, Ulrika A.; Cajuso, Tatiana; Tanskanen, Tomas; Kondelin, Johanna; Kaasinen, Eevi; Sarin, Antti‐Pekka; Ripatti, Samuli; Eriksson, Johan G.; Rissanen, Harri; Knekt, Paul; Pukkala, Eero; J... Journal: International journal of cancer Issue: Volume 140:Issue 12(2017:Jun. 15) Page Start: 2701 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis. (October 2017) Authors: May-Wilson, Sebastian; Sud, Amit; Law, Philip J.; Palin, Kimmo; Tuupanen, Sari; Gylfe, Alexandra; Hänninen, Ulrika A.; Cajuso, Tatiana; Tanskanen, Tomas; Kondelin, Johanna; Kaasinen, Eevi; Sarin, Antti-Pekka; Eriksson, Johan G.; Rissanen, Harri; Knekt, Paul; Pukkala, Eero; Jousilahti, Pekka; Salo... Journal: European journal of cancer Issue: Volume 84(2017) Page Start: 228 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗