| Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression H Eiberg, J Troelsen, M Nielsen, A Mikkelsen, J Mengel-From, KW Kjaer, ... Human genetics 123 (2), 177-187, 2008 | 476 | 2008 |
| Immature truncated O-glycophenotype of cancer directly induces oncogenic features P Radhakrishnan, S Dabelsteen, FB Madsen, C Francavilla, KL Kopp, ... Proceedings of the National Academy of Sciences 111 (39), E4066-E4075, 2014 | 324 | 2014 |
| An Atlas of Human Glycosylation Pathways Enables Display of the Human Glycome by Gene Engineered Cells CH 3. Narimatsu Y, Joshi H, Nason R, Van Coillie J, Karlsson R, Sun L, Ye Z ... Mol Cell 75, 1-14, 2019 | 229* | 2019 |
| Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8 L Hansen, W Yao, H Eiberg, KW Kjaer, K Baggesen, JF Hejtmancik, ... Investigative ophthalmology & visual science 48 (9), 3937-3944, 2007 | 165 | 2007 |
| Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism K Grønskov, CM Dooley, E Østergaard, RN Kelsh, L Hansen, ... The American Journal of Human Genetics 92 (3), 415-421, 2013 | 143 | 2013 |
| Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene H Eiberg, L Hansen, B Kjer, T Hansen, O Pedersen, M Bille, T Rosenberg, ... Journal of medical genetics 43 (5), 435-440, 2006 | 142 | 2006 |
| Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome) KW Kjaer, L Hansen, GC Schwabe, AP Marques-de-Faria, H Eiberg, ... Journal of medical genetics 42 (4), 292-298, 2005 | 130 | 2005 |
| Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment ND Rendtorff, M Lodahl, H Boulahbel, IR Johansen, A Pandya, KO Welch, ... American journal of medical genetics Part A 155 (6), 1298-1313, 2011 | 125 | 2011 |
| Loss of function of GALNT2 lowers high-density lipoproteins in humans, nonhuman primates, and rodents SA Khetarpal, KT Schjoldager, C Christoffersen, A Raghavan, ... Cell metabolism 24 (2), 234-245, 2016 | 124 | 2016 |
| Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract L Hansen, A Mikkelsen, P Nürnberg, G Nürnberg, I Anjum, H Eiberg, ... Investigative ophthalmology & visual science 50 (7), 3291-3303, 2009 | 120 | 2009 |
| Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability L Hansen, H Tawamie, Y Murakami, Y Mang, S ur Rehman, R Buchert, ... The American Journal of Human Genetics 92 (4), 575-583, 2013 | 115 | 2013 |
| Novel Connexin 43 (GJA1) mutation causes oculo–dento–digital dysplasia with curly hair KW Kjaer, L Hansen, H Eiberg, P Leicht, JM Opitz, N Tommerup American Journal of Medical Genetics Part A 127 (2), 152-157, 2004 | 105 | 2004 |
| Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2 B Wissinger, S Dangel, H Jagle, L Hansen, B Baumann, G Rudolph, ... Investigative Ophthalmology & Visual Science 49 (2), 751-757, 2008 | 98 | 2008 |
| Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified L Hansen, H Eiberg, T Barrett, T Bek, P Kjærsgaard, L Tranebjærg, ... European Journal of Human Genetics 13 (12), 1275-1284, 2005 | 94 | 2005 |
| A validated gRNA library for CRISPR/Cas9 targeting of the human glycosyltransferase genome Y Narimatsu, HJ Joshi, Z Yang, C Gomes, YH Chen, FC Lorenzetti, ... Glycobiology 28 (5), 295-305, 2018 | 85 | 2018 |
| De novo expression of human polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) in colon adenocarcinoma inhibits the differentiation of colonic epithelium K Lavrsen, S Dabelsteen, SY Vakhrushev, AMR Levann, AD Haue, ... Journal of Biological Chemistry 293 (4), 1298-1314, 2018 | 75 | 2018 |
| Site-specific O-glycosylation of members of the low-density lipoprotein receptor superfamily enhances ligand interactions S Wang, Y Mao, Y Narimatsu, Z Ye, W Tian, CK Goth, E Lira-Navarrete, ... Journal of Biological Chemistry 293 (19), 7408-7422, 2018 | 74 | 2018 |
| Molecular basis for fibroblast growth factor 23 O-glycosylation by GalNAc-T3. HGR 1. de las Rivas M, Daniel EJP, Narimatsu Y, Compañón I, Kato K ... Nat Chem Biol, 2020 | 71 | 2020 |
| A glycogene mutation map for discovery of diseases of glycosylation L Hansen, A Lind-Thomsen, HJ Joshi, NB Pedersen, CT Have, Y Kong, ... Glycobiology 25 (2), 211-224, 2015 | 70 | 2015 |
| The glycosylation design space for recombinant lysosomal replacement enzymes produced in CHO cells W Tian, Z Ye, S Wang, MA Schulz, J Van Coillie, L Sun, YH Chen, ... Nature communications 10 (1), 1785, 2019 | 65 | 2019 |
Hans EibergKøbenhavns universitetVerified email at sund.ku.dk
