Helene Hjellnes

Overingeniør

E-post: Helene.Hjellnes@hi.no

Telefon: 55238500

Avdeling: Populasjonsgenetikk

Publikasjoner

Vitenskapelige artikler (NVI)

2019

ABCC9-related intellectual disability myopathy syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9

Marie Falkenberg Smeland, Conor McClenaghan, Helen I. Roessler, Sanne Savelberg, Geir Åsmund Myge Hansen, Helene Hjellnes, Kjell Arne Arntzen, Kai Ivar Müller, Andreas R. Dybesland, Theresa Harter, Monica Sala-Rabanal, Chris H. Emfinger, Yan Huang, Soma S. Singareddy, Jamie Gunn, David F. Wozniak, Attila Kovacs, Maarten Massink, Federico Tessadori, Sarah M. Kamel, Jeroen Bakkers, Maria S. Remedi, Marijke Van Ghelue, Colin G. Nichols, Gijs van Haaften

Nature Communications 10:4457 p. 1-19

2014

Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations

Rune André Helland Østern, Toril Fagerheim, Helene Hjellnes, Bjørn Nygård, Svein Ivar Mellgren, Øivind Nilssen

BMC Medical Genetics 15:12

2013

Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies