Lars Hansen
Lars Hansen
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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth
L Hansen, S Kreiborg, H Jarlov, E Niebuhr, H Eiberg
European Journal of Oral Sciences 115 (4), 330-333, 2007
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