Helena Gásdal Karstensen

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Andreea Manole, Stéphanie Efthymiou, Emer O’Connor et al. · The American Journal of Human Genetics · 2020 · 64 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Successful treatment with dupilumab of an adult with Netherton syndrome

Thomas Holger Andreasen, Helena Gásdal Karstensen, Ulrikke Lei et al. · Clinical and Experimental Dermatology · 2020 · 41 citations

Medicine, Neurology, Pharmacotherapy +2

Congenital olfactory impairment is linked to cortical changes in prefrontal and limbic brain regions

Helena Gásdal Karstensen, Martin D. Vestergaard, William F.C. Baaré et al. · Brain Imaging and Behavior · 2018 · 39 citations

Life Sciences, Neurobiology, Neuroscience +16

The first mutation in <i><scp>CNGA2</scp></i> in two brothers with anosmia

Helena Gásdal Karstensen, Yuan Mang, Therese Fark et al. · Clinical Genetics · 2014 · 31 citations

Life Sciences, Genetics, Molecular Genetics +17

Usher syndrome in Denmark: mutation spectrum and some clinical observations

Shzeena Dad, Nanna Dahl Rendtorff, Lisbeth Tranebjærg et al. · Molecular Genetics & Genomic Medicine · 2016 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16