| Oculocutaneous albinism K Grønskov, J Ek, K Brondum-Nielsen Orphanet journal of rare diseases 2, 1-8, 2007 | 648 | 2007 |
| Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. F Brioude, JM Kalish, A Mussa, AC Foster, J Bliek, GB Ferrero, ... Nat Rev Endocrinol 14 (4), 229-249, 2018 | 469* | 2018 |
| Diagnosis and management of Silver–Russell syndrome: first international consensus statement EL Wakeling, F Brioude, O Lokulo-Sodipe, SM O'Connell, J Salem, J Bliek, ... Nature Reviews Endocrinology 13 (2), 105-124, 2017 | 463 | 2017 |
| The insulin-like growth factor-I receptor: structure, ligand-binding mechanism and signal transduction P De Meyts, B Wallach, CT Christoffersen, B Ursø, K Grønskov, LJ Latus, ... Hormone Research in Paediatrics 42 (4-5), 152-169, 1994 | 308 | 1994 |
| Increasing the complexity: new genes and new types of albinism L Montoliu, K Grønskov, AH Wei, M Martínez‐García, A Fernández, ... Pigment cell & melanoma research 27 (1), 11-18, 2014 | 245 | 2014 |
| Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci T Eggermann, G Perez de Nanclares, ER Maher, IK Temple, Z Tümer, ... Clinical epigenetics 7, 1-18, 2015 | 187 | 2015 |
| Population-based risk estimates of Wilms tumor in sporadic aniridia: a comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia K Grønskov, JH Olsen, A Sand, W Pedersen, N Carlsen, A Jylling, ... Human genetics 109, 11-18, 2001 | 173 | 2001 |
| 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 | 136 | 2013 |
| Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype K Grønskov, T Rosenberg, A Sand, K Brøndum-Nielsen European Journal of Human Genetics 7 (3), 274-286, 1999 | 117 | 1999 |
| Recent advances in imprinting disorders L Soellner, M Begemann, DJG Mackay, K Grønskov, Z Tümer, ER Maher, ... Clinical genetics 91 (1), 3-13, 2017 | 108 | 2017 |
| Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy C Jespersgaard, M Fang, M Bertelsen, X Dang, H Jensen, Y Chen, ... Scientific reports 9 (1), 1219, 2019 | 100 | 2019 |
| Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism K Grønskov, J Ek, A Sand, R Scheller, A Bygum, K Brixen, ... Investigative ophthalmology & visual science 50 (3), 1058-1064, 2009 | 96 | 2009 |
| Bardet‐Biedl syndrome in Denmark—report of 13 novel sequence variations in six genes TD Hjortshøj, K Grønskov, AR Philp, DY Nishimura, R Riise, VC Sheffield, ... Human mutation 31 (4), 429-436, 2010 | 92 | 2010 |
| Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up SE Boonen, DJG Mackay, JMD Hahnemann, L Docherty, K Grønskov, ... Diabetes care 36 (3), 505-512, 2013 | 91 | 2013 |
| Screening of the ARX gene in 682 retarded males K Grønskov, H Hjalgrim, IM Nielsen, K Brøndum-Nielsen European journal of human genetics 12 (9), 701-705, 2004 | 86 | 2004 |
| Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis LGB Mertz, R Christensen, I Vogel, JM Hertz, KB Nielsen, K Grønskov, ... American Journal of Medical Genetics Part A 161 (9), 2197-2203, 2013 | 85 | 2013 |
| Role of the time factor in signaling specificity: application to mitogenic and metabolic signaling by the insulin and insulin-like growth factor-I receptor tyrosine kinases P De Meyts, CT Christoffersen, B Ursø, B Wallach, K Grønskov, ... Metabolism 44, 2-11, 1995 | 83 | 1995 |
| EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome K Eggermann, J Bliek, F Brioude, E Algar, K Buiting, S Russo, Z Tümer, ... European Journal of Human Genetics 24 (10), 1377-1387, 2016 | 82 | 2016 |
| A novel founder BBS1 mutation explains a unique high prevalence of Bardet–Biedl syndrome in the Faroe Islands TD Hjortshøj, K Grønskov, K Brøndum-Nielsen, T Rosenberg British Journal of Ophthalmology 93 (3), 409-413, 2009 | 77 | 2009 |
| High-throughput analysis of Fragile X (CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis LA Larsen, K Grønskov, B Nørgaard-Pedersen, K Brøndum-Nielsen, ... Human genetics 100, 564-568, 1997 | 73 | 1997 |
