| Isolated and syndromic forms of congenital anosmia HG Karstensen, N Tommerup Clinical genetics 81 (3), 210-215, 2012 | 86 | 2012 |
| Identification and consequences of polymorphisms in the thyroid hormone receptor alpha and beta genes HG Sørensen, WM van der Deure, PS Hansen, RP Peeters, MMB Breteler, ... Thyroid 18 (10), 1087-1094, 2008 | 46 | 2008 |
| De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects A Manole, S Efthymiou, E O’Connor, MI Mendes, M Jennings, ... The American Journal of Human Genetics 107 (2), 311-324, 2020 | 45 | 2020 |
| Successful treatment with dupilumab of an adult with Netherton syndrome TH Andreasen, HG Karstensen, M Duno, U Lei, C Zachariae, JP Thyssen Clinical and experimental dermatology 45 (7), 915-917, 2020 | 41 | 2020 |
| Usher syndrome in Denmark: mutation spectrum and some clinical observations S Dad, ND Rendtorff, L Tranebjærg, K Grønskov, HG Karstensen, V Brox, ... Molecular genetics & genomic medicine 4 (5), 527-539, 2016 | 36 | 2016 |
| Congenital olfactory impairment is linked to cortical changes in prefrontal and limbic brain regions HG Karstensen, M Vestergaard, WFC Baaré, A Skimminge, B Djurhuus, ... Brain imaging and behavior 12, 1569-1582, 2018 | 34 | 2018 |
| The first mutation in CNGA2 in two brothers with anosmia HG Karstensen, Y Mang, T Fark, T Hummel, N Tommerup Clinical genetics 88 (3), 293-296, 2015 | 33 | 2015 |
| Neural correlates of taste perception in congenital olfactory impairment L Gagnon, M Vestergaard, K Madsen, HG Karstensen, H Siebner, ... Neuropsychologia 62, 297-305, 2014 | 26 | 2014 |
| Rib and vertebral deformities in rainbow trout (Oncorhynchus mykiss) explained by a dominant-mutation mechanism H Gislason, H Karstensen, D Christiansen, K Hjelde, S Helland, ... Aquaculture 309 (1-4), 86-95, 2010 | 18 | 2010 |
| Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome HG Karstensen, ND Rendtorff, LS Hindbæk, R Colombo, A Stein, ... European journal of medical genetics 63 (3), 103733, 2020 | 13 | 2020 |
| Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia MA Lines, P Goldenberg, A Wong, S Srivastava, A Bayat, H Hove, ... American Journal of Medical Genetics Part A 188 (6), 1667-1675, 2022 | 11 | 2022 |
| Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency L Arribas-Carreira, C Dallabona, MA Swanson, J Farris, E Østergaard, ... Human Molecular Genetics 32 (6), 917-933, 2023 | 7 | 2023 |
| Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy LS Kodal, S Hammer-Hansen, S Holm-Yildiz, K Grønskov, HG Karstensen, ... Frontiers in Neurology 13, 1066040, 2022 | 6 | 2022 |
| Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth B Schönewolf-Greulich, HG Karstensen, TD Hjortshøj, FS Jørgensen, ... European journal of medical genetics 65 (10), 104590, 2022 | 6 | 2022 |
| Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients ND Rendtorff, HG Karstensen, M Lodahl, J Tolmie, C McWilliam, M Bak, ... Scientific Reports 12 (1), 14959, 2022 | 2 | 2022 |
| Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45, X/46, X, psu dic (Y) karyotype, thyroid hormone receptor beta (THRB) mutation and … FJ Hes, K Madan, IS Rombout‐Liem, K Szuhai, H Sørensen, ... American Journal of Medical Genetics Part A 149 (10), 2231-2235, 2009 | 2 | 2009 |
| National clinical Genetic Networks-GENets-Establishment of expert collaborations in Denmark DL Lildballe, AL Frederiksen, B Schönewolf-Greulich, C Brasch-Andersen, ... European Journal of Medical Genetics 66 (12), 104872, 2023 | 1 | 2023 |
| Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA N Revencu, A Eijkelenboom, C Bracquemart, P Alhopuro, J Armstrong, ... Orphanet journal of rare diseases 19 (1), 213, 2024 | | 2024 |
| Impact of GCSH-deficiency: a protein at the crossroad of one-carbon metabolism and cellular respiration L Arribas, M Swanson, E Ostergaard, C Dallabona, K Tsiakas, M Hempel, ... EUROPEAN JOURNAL OF HUMAN GENETICS 31 (55th European-Society-of-Human …, 2023 | | 2023 |
| Targeted Next-Generation Sequencing (NGS) gene panel testing in 200 Danish individuals with primary non-syndromic hearing impairment ND Rendtorff, HG Karstensen, LS Hindbaek, L Tranebjaerg EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1224-1225, 2019 | | 2019 |
