1. A 3-way hybrid approach to generate a new high-quality chimpanzee reference genome (Pan_tro_3.0). Issue 11 (30th October 2017) Authors: Kuderna, Lukas F K; Tomlinson, Chad; Hillier, LaDeana W; Tran, Annabel; Fiddes, Ian T; Armstrong, Joel; Laayouni, Hafid; Gordon, David; Huddleston, John; Garcia Perez, Raquel; Povolotskaya, Inna; Serres Armero, Aitor; Gómez Garrido, Jèssica; Ho, Daniel; Ribeca, Paolo; Alioto, Tyler; Green, Richar... Journal: GigaScience Issue: Volume 6:Issue 11(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Role for the Chromatin‐Remodeling Factor BAZ1A in Neurodevelopment. Issue 9 (8th July 2016) Authors: Zaghlool, Ammar; Halvardson, Jonatan; Zhao, Jin J.; Etemadikhah, Mitra; Kalushkova, Antonia; Konska, Katarzyna; Jernberg‐Wiklund, Helena; Thuresson, Ann‐Charlotte; Feuk, Lars Journal: Human mutation Issue: Volume 37:Issue 9(2016) Page Start: 964 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Analyzing DNA methylation patterns in subjects diagnosed with schizophrenia using machine learning methods. (July 2019) Authors: Torabi Moghadam, Behrooz; Etemadikhah, Mitra; Rajkowska, Grazyna; Stockmeier, Craig; Grabherr, Manfred; Komorowski, Jan; Feuk, Lars; Carlström, Eva Lindholm Journal: Journal of psychiatric research Issue: Volume 114(2019) Page Start: 41 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Detailed analysis of HTT repeat elements in human blood using targeted amplification‐free long‐read sequencing. Issue 9 (12th July 2018) Authors: Höijer, Ida; Tsai, Yu‐Chih; Clark, Tyson A.; Kotturi, Paul; Dahl, Niklas; Stattin, Eva‐Lena; Bondeson, Marie‐Louise; Feuk, Lars; Gyllensten, Ulf; Ameur, Adam Journal: Human mutation Issue: Volume 39:Issue 9(2018) Page Start: 1262 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. Issue 1 (9th October 2017) Authors: Zhao, Jin J.; Halvardson, Jonatan; Zander, Cecilia S.; Zaghlool, Ammar; Georgii‐Hemming, Patrik; Månsson, Else; Brandberg, Göran; Sävmarker, Helena E.; Frykholm, Carina; Kuchinskaya, Ekaterina; Thuresson, Ann‐Charlotte; Feuk, Lars Journal: American journal of medical genetics Issue: Volume 177:Issue 1(2018) Page Start: 10 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expression profiling and in situ screening of circular RNAs in human tissues. Issue 1 (December 2018) Authors: Zaghlool, Ammar; Ameur, Adam; Wu, Chenglin; Westholm, Jakub; Niazi, Adnan; Manivannan, Manimozhi; Bramlett, Kelli; Nilsson, Mats; Feuk, Lars Journal: Scientific reports Issue: Volume 8:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mechanisms of Formation of Structural Variation in a Fully Sequenced Human Genome. Issue 2 (19th November 2012) Authors: Pang, Andy Wing Chun; Migita, Ohsuke; MacDonald, Jeffrey R.; Feuk, Lars; Scherer, Stephen W. Journal: Human mutation Issue: Volume 34:Issue 2(2013:Feb.) Page Start: 345 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mutations in HECW2 are associated with intellectual disability and epilepsy. Issue 10 (22nd June 2016) Authors: Halvardson, Jonatan; Zhao, Jin J; Zaghlool, Ammar; Wentzel, Christian; Georgii-Hemming, Patrik; Månsson, Else; Ederth Sävmarker, Helena; Brandberg, Göran; Soussi Zander, Cecilia; Thuresson, Ann-Charlotte; Feuk, Lars Journal: Journal of medical genetics Issue: Volume 53:Issue 10(2016) Page Start: 697 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. One CNV Discordance in NRXN1 Observed Upon Genome-wide Screening in 38 Pairs of Adult Healthy Monozygotic Twins. (22nd February 2016) Authors: Magnusson, Patrik K. E.; Lee, Donghwan; Chen, Xu; Szatkiewicz, Jin; Pramana, Setia; Teo, Shumei; Sullivan, Patrick F.; Feuk, Lars; Pawitan, Yudi Journal: Twin research and human genetics Issue: Volume 19:Number 2(2016) Page Start: 97 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Reduced cell surface levels of GPI‐linked markers in a new case with PIGG loss of function. Issue 10 (12th June 2017) Authors: Zhao, Jin James; Halvardson, Jonatan; Knaus, Alexej; Georgii‐Hemming, Patrik; Baeck, Peter; Krawitz, Peter M.; Thuresson, Ann‐Charlotte; Feuk, Lars Journal: Human mutation Issue: Volume 38:Issue 10(2017) Page Start: 1394 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗