| Gaia data release 2-summary of the contents and survey properties AGA Brown, A Vallenari, T Prusti, JHJ De Bruijne, C Babusiaux, ... Astronomy & astrophysics 616, A1, 2018 | 8571* | 2018 |
| The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia N Draptchinskaia, P Gustavsson, B Andersson, M Pettersson, TN Willig, ... Nature genetics 21 (2), 169-175, 1999 | 977 | 1999 |
| Vascular endothelial growth factor B controls endothelial fatty acid uptake CE Hagberg, A Falkevall, X Wang, E Larsson, J Huusko, I Nilsson, ... Nature 464 (7290), 917-921, 2010 | 560 | 2010 |
| CALIFA, the Calar Alto Legacy Integral Field Area survey-II. First public data release B Husemann, K Jahnke, SF Sánchez, D Barrado, S Bekerait, DJ Bomans, ... Astronomy & Astrophysics 549, A87, 2013 | 269 | 2013 |
| Vascular endothelial growth factor-B induces myocardium-specific angiogenesis and arteriogenesis via vascular endothelial growth factor receptor-1–and neuropilin receptor-1 … JE Lähteenvuo, MT Lähteenvuo, A Kivelä, C Rosenlew, A Falkevall, ... Circulation 119 (6), 845-856, 2009 | 240 | 2009 |
| Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes B Bergendal, J Klar, C Stecksén‐Blicks, J Norderyd, N Dahl American Journal of Medical Genetics Part A 155 (7), 1616-1622, 2011 | 199 | 2011 |
| Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome J Klar, M Schweiger, R Zimmerman, R Zechner, H Li, H Törmä, ... The American Journal of Human Genetics 85 (2), 248-253, 2009 | 178 | 2009 |
| Alpha-cardiac actin mutations produce atrial septal defects H Matsson, J Eason, CS Bookwalter, J Klar, P Gustavsson, J Sunnegårdh, ... Human molecular genetics 17 (2), 256-265, 2008 | 177 | 2008 |
| Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands M Entesarian, H Matsson, J Klar, B Bergendal, L Olson, R Arakaki, ... Nature genetics 37 (2), 125-128, 2005 | 173 | 2005 |
| Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing J Klar, M Sobol, A Melberg, K Mäbert, A Ameur, ACV Johansson, L Feuk, ... Human mutation 34 (4), 572-577, 2013 | 109 | 2013 |
| The MUSE-Wide Survey: survey description and first data release T Urrutia, L Wisotzki, J Kerutt, KB Schmidt, EC Herenz, J Klar, R Saust, ... Astronomy & Astrophysics 624, A141, 2019 | 105 | 2019 |
| WNT10A mutations account for ¼ of population‐based isolated oligodontia and show phenotypic correlations PS Arzoo, J Klar, B Bergendal, J Norderyd, N Dahl American Journal of Medical Genetics Part A 164 (2), 353-359, 2014 | 104 | 2014 |
| A single-nucleotide deletion in the POMP 5′ UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis J Dahlqvist, J Klar, N Tiwari, J Schuster, H Törmä, J Badhai, R Pujol, ... The American Journal of Human Genetics 86 (4), 596-603, 2010 | 96 | 2010 |
| Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2 P Schatz, J Klar, S Andréasson, V Ponjavic, N Dahl Ophthalmic genetics 27 (2), 51-56, 2006 | 91 | 2006 |
| Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease J Klar, P Blomstrand, C Brunmark, J Badhai, HF Håkansson, CS Brange, ... Journal of medical genetics 48 (10), 705-709, 2011 | 84 | 2011 |
| WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome S Nawaz, J Klar, M Wajid, M Aslam, M Tariq, J Schuster, SM Baig, N Dahl European journal of human genetics 17 (12), 1600-1605, 2009 | 80 | 2009 |
| Abolished InsP3R2 function inhibits sweat secretion in both humans and mice J Klar, C Hisatsune, SM Baig, M Tariq, ACV Johansson, M Rasool, ... The Journal of clinical investigation 124 (11), 4773-4780, 2014 | 78 | 2014 |
| Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis J Dahlqvist, J Klar, I Hausser, I Anton-Lamprecht, MH Pigg, T Gedde-Dahl, ... Journal of medical genetics 44 (10), 615-620, 2007 | 78 | 2007 |
| Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia AS Fröjmark, J Schuster, M Sobol, M Entesarian, MBC Kilander, ... The American Journal of Human Genetics 88 (6), 852-860, 2011 | 77 | 2011 |
| A Meniere's disease gene linked to chromosome 12p12. 3 J Klar, C Frykholm, U Friberg, N Dahl American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 141 …, 2006 | 73 | 2006 |
