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medizinische genetik, ISSN 0936-5931, 06/2019, Volume 31, Issue 2, p. 191
The diagnostic yield in rare disorders is currently less than 50% although sequencing technologies in use are able to detect the majority of possible variants... 
RNA sequencing | Messenger RNA | Genes | Genomics | DNA | Genomes | Nucleotide sequencing | DNA sequencing
Journal Article
medizinische genetik, ISSN 0936-5931, 6/2019, Volume 31, Issue 2, pp. 191 - 197
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 5/2018, Volume 41, Issue 3, pp. 525 - 532
Exome wide sequencing techniques have revolutionized molecular diagnostics in patients with suspected inborn errors of metabolism or neuromuscular disorders.... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Inborn errors of metabolism | Splicing | Antisense oligonucleotides | Diagnosis | Metabolism | Ribonucleic acid--RNA | Neuromuscular system | Spinal muscular atrophy | Transcriptomics
Journal Article
by Porcu, E and Rueger, S and Lepik, K and Agbessi, M and Ahsan, H and Alves, I and Andiappan, A and Arindrarto, W and Awadalla, P and Battle, A and Beutner, F and Bonder, MJ and Boomsma, D and Christiansen, M and Claringbould, A and Deelen, P and Esko, T and Fave, MJ and Franke, L and Frayling, T and Gharib, SA and Gibson, G and Heijmans, BT and Hemani, G and Jansen, R and Kahonen, M and Kalnapenkis, A and Kasela, S and Kettunen, J and Kim, Y and Kirsten, H and Kovacs, P and Krohn, K and Kronberg-Guzman, J and Kukushkina, V and Lee, B and Lehtimaki, T and Loeffler, M and Marigorta, UM and Mei, HL and Milani, L and Montgomery, GW and Muller-Nurasyid, M and Nauck, M and Nivard, M and Penninx, B and Perola, M and Pervjakova, N and Pierce, BL and Powell, J and Prokisch, H and Psaty, BM and Raitakari, OT and Ripatti, S and Rotzschke, O and Saha, A and Scholz, M and Schramm, K and Seppala, I and Slagboom, EP and Stehouwer, CDA and Stumvoll, M and Sullivan, P and t Hoen, PAC and Teumer, A and Thiery, J and Tong, L and Tonjes, A and van Dongen, J and van Iterson, M and van Meurs, J and Veldink, JH and Verlouw, J and Visscher, PM and Volker, U and Vosa, U and Westra, HJ and Wijmenga, C and Yaghootkar, H and Yang, J and Zeng, B and Zhang, FT and Beekman, M and Boomsma, DI and Bot, J and Deelen, J and Hofman, BA and Hottenga, JJ and Isaacs, A and Jhamai, PM and Kielbasa, SM and Lakenberg, N and Luijk, R and Mei, H and Moed, M and Nooren, I and Pool, R and Schalkwijk, CG and Slagboom, PE and Suchiman, HED and ... and eQTLGen Consortium and BIOS Consortium
NATURE COMMUNICATIONS, ISSN 2041-1723, 07/2019, Volume 10, Issue 1, pp. 3300 - 12
Genome-wide association studies (GWAS) have identified thousands of variants associated with complex traits, but their biological interpretation often remains... 
OBESITY | VARIANTS | STATISTICS | INSTRUMENTAL VARIABLES | MULTIDISCIPLINARY SCIENCES | DISEASE | MUTATION | PLEIOTROPY | ASSOCIATION | EXPRESSION | FAMILY | Quantitative trait loci | Pleiotropy | Randomization | Phenotypes | Encephalopathy | Genomes | Single-nucleotide polymorphism | Mutation | Gene expression | Statistics | Index Medicus
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 10/2013, Volume 45, Issue 10, pp. 1238 - 1243
Journal Article
by Wahl, Simone and Drong, Alexander and Lehne, Benjamin and Loh, Marie and Scott, William R and Kunze, Sonja and Tsai, Pei-Chien and Ried, Janina S and Zhang, Weihua and Yang, Youwen and Tan, Sili and Fiorito, Giovanni and Franke, Lude and Guarrera, Simonetta and Kasela, Silva and Kriebel, Jennifer and Richmond, Rebecca C and Adamo, Marco and Afzal, Uzma and Ala-Korpela, Mika and Albetti, Benedetta and Ammerpohl, Ole and Apperley, Jane F and Beekman, Marian and Bertazzi, Pier Alberto and Black, S. Lucas and Blancher, Christine and Bonder, Marc-Jan and Brosch, Mario and Carstensen-Kirberg, Maren and De Craen, Anton J.M and De Lusignan, Simon and Dehghan, Abbas and Elkalaawy, Mohamed and Fischer, Krista and Franco, Oscar H and Gaunt, Tom R and Hampe, Jochen and Hashemi, Majid and Isaacs, Aaron and Jenkinson, Andrew and Jha, Sujeet and Kato, Norihiro and Krogh, Vittorio and Laffan, Michael and Meisinger, Christa and Meitinger, Thomas and Mok, Zuan Yu and Motta, Valeria and Ng, Hong Kiat and Nikolakopoulou, Zacharoula and Nteliopoulos, Georgios and Panico, Salvatore and Pervjakova, Natalia and Prokisch, Holger and Rathmann, Wolfgang and Roden, Michael and Rota, Federica and Rozario, Michelle Ann and Sandling, Johanna K and Schafmayer, Clemens and Schramm, Katharina and Siebert, Reiner and Slagboom, P. Eline and Soininen, Pasi and Stolk, Lisette and Strauch, Konstantin and Tai, E-Shyong and Tarantini, Letizia and Thorand, Barbara and Tigchelaar, Ettje F and Tumino, Rosario and Uitterlinden, Andre G and Van Duijn, Cornelia and Van Meurs, Joyce B.J and Vineis, Paolo and Wickremasinghe, Ananda Rajitha and Wijmenga, Cisca and Yang, Tsun-Po and Yuan, Wei and Zhernakova, Alexandra and Batterham, Rachel L and Smith, George Davey and Deloukas, Panos and Heijmans, Bastiaan T and Herder, Christian and Hofman, Albert and Lindgren, Cecilia M and Milani, Lili and Van Der Harst, Pim and Peters, Annette and Illig, Thomas and Relton, Caroline L and Waldenberger, Melanie and Järvelin, Marjo-Riitta and Bollati, Valentina and Soong, Richie and Spector, Tim D and Scott, James and McCarthy, Mark I and ... and Medicinska fakulteten and Science for Life Laboratory, SciLifeLab and Medicinska och farmaceutiska vetenskapsområdet and Molekylär medicin and Uppsala universitet and Institutionen för medicinska vetenskaper
Nature, ISSN 0028-0836, 01/2017, Volume 541, Issue 7635, pp. 81 - 86
Journal Article
Molecular Systems Biology, ISSN 1744-4292, 2012, Volume 8, Issue 1, pp. 615 - n/a
Journal Article