1. Discovery of mitochondrial DNA variants associated with genome-wide blood cell gene expression: a population-based mtDNA sequencing study. (9th January 2019) Authors: Laaksonen, Jaakko; Seppälä, Ilkka; Raitoharju, Emma; Mononen, Nina; Lyytikäinen, Leo-Pekka; Waldenberger, Melanie; Illig, Thomas; Lepistö, Maija; Almusa, Henrikki; Ellonen, Pekka; Hutri-Kähönen, Nina; Juonala, Markus; Kähönen, Mika; Raitakari, Olli; Salonen, Jukka T; Lehtimäki, Terho Journal: Human molecular genetics Issue: Volume 28:Number 8(2019) Page Start: 1381 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Kallmann syndrome in a patient with Weiss–Kruszka syndrome and a de novo deletion in 9q31.2. Issue 1 (21st May 2021) Authors: Iivonen, Anna-Pauliina; Kärkinen, Juho; Yellapragada, Venkatram; Sidoroff, Virpi; Almusa, Henrikki; Vaaralahti, Kirsi; Raivio, Taneli Journal: European journal of endocrinology Issue: Volume 185:Issue 1(2021) Page Start: 57 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mitochondrial genome-wide analysis of nuclear DNA methylation quantitative trait loci. Issue 10 (19th November 2021) Authors: Laaksonen, Jaakko; Mishra, Pashupati P; Seppälä, Ilkka; Raitoharju, Emma; Marttila, Saara; Mononen, Nina; Lyytikäinen, Leo-Pekka; Kleber, Marcus E; Delgado, Graciela E; Lepistö, Maija; Almusa, Henrikki; Ellonen, Pekka; Lorkowski, Stefan; März, Winfried; Hutri-Kähönen, Nina; Raitakari, Olli; Kähön... Journal: Human molecular genetics Issue: Volume 31:Issue 10(2022) Page Start: 1720 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years. (September 2022) Authors: Hietamäki, Johanna; Kärkinen, Juho; Iivonen, Anna-Pauliina; Vaaralahti, Kirsi; Tarkkanen, Annika; Almusa, Henrikki; Huopio, Hanna; Hero, Matti; Miettinen, Päivi J.; Raivio, Taneli Journal: EClinicalMedicine Issue: Volume 51(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome. Issue 11 (9th September 2020) Authors: Hakonen, Anna H.; Lehtonen, Johanna; Kivirikko, Sirpa; Keski‐Filppula, Riikka; Moilanen, Jukka; Kivisaari, Reetta; Almusa, Henrikki; Jakkula, Eveliina; Saarela, Janna; Avela, Kristiina; Aittomäki, Kristiina Journal: American journal of medical genetics Issue: Volume 182:Issue 11(2020) Page Start: 2605 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy. Issue 7 (6th May 2019) Authors: Hakonen, Anna H.; Polvi, Anne; Saloranta, Carola; Paetau, Anders; Heikkilä, Päivi; Almusa, Henrikki; Ellonen, Pekka; Jakkula, Eveliina; Saarela, Janna; Aittomäki, Kristiina Journal: American journal of medical genetics Issue: Volume 179:Issue 7(2019) Page Start: 1362 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Somatic mutation profiles as molecular classifiers of ulcerative colitis‐associated colorectal cancer. Issue 12 (13th February 2021) Authors: Mäki‐Nevala, Satu; Ukwattage, Sanjeevi; Olkinuora, Alisa; Almusa, Henrikki; Ahtiainen, Maarit; Ristimäki, Ari; Seppälä, Toni; Lepistö, Anna; Mecklin, Jukka‐Pekka; Peltomäki, Päivi Journal: International journal of cancer Issue: Volume 148:Issue 12(2021) Page Start: 2997 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The Finnish Disease Heritage Database (FinDis) Update—A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next‐Generation Sequencing Era. Issue 11 (13th September 2013) Authors: Polvi, Anne; Linturi, Henna; Varilo, Teppo; Anttonen, Anna‐Kaisa; Byrne, Myles; Fokkema, Ivo F.A.C.; Almusa, Henrikki; Metzidis, Anthony; Avela, Kristiina; Aula, Pertti; Kestilä, Marjo; Muilu, Juha Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1458 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The Finnish Disease Heritage Database (FinDis) Update—A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next‐Generation Sequencing Era. Issue 11 (13th September 2013) Authors: Polvi, Anne; Linturi, Henna; Varilo, Teppo; Anttonen, Anna‐Kaisa; Byrne, Myles; Fokkema, Ivo F.A.C.; Almusa, Henrikki; Metzidis, Anthony; Avela, Kristiina; Aula, Pertti; Kestilä, Marjo; Muilu, Juha Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1458 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗