Concepedia
Statistics
Publications
22
Citations
1.1K
H-Index
15
Active since
2005
Affiliations
University of Helsinki(Current)
Helsinki University Hospital
Folkhälsans Forskningscentrum
Institute for Molecular Medicine Finland
Harvard University
Anna‐Kaisa Anttonen is an author at University of Helsinki specializing in human genetics, life sciences, and genetics.
Publications per year
2005–2023
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
Anna‐Kaisa Anttonen, I. Mahjneh, Riikka H. Hämäläinen et al. · Nature Genetics · 2005 · 241 citations
Life Sciences, Genetics, Molecular Genetics +9
Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development
Richard S. Smith, Connor Kenny, Vijay Ganesh et al. · Neuron · 2018 · 167 citations · Full text
Life Sciences, Neurobiology, Neuroscience +16
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy
Mikko Muona, Ryosuke Ishimura, Anni Laari et al. · The American Journal of Human Genetics · 2016 · 117 citations · Full text
Life Sciences, Genetics, Molecular Genetics +12
Detection of KRAS mutations in liquid biopsies from metastatic colorectal cancer patients using droplet digital PCR, Idylla, and next generation sequencing
Matilda Holm, Emma Andersson, Emerik Österlund et al. · PLoS ONE · 2020 · 79 citations · Full text
Medicine, Molecular Genetics, Oncology +17
Pitfalls in genetic testing: the story of missed <i>SCN1A</i> mutations
Tania Djémié, Sarah Weckhuysen, Sarah von Spiczak et al. · Molecular Genetics & Genomic Medicine · 2016 · 77 citations · Full text
Life Sciences, Genetics, Molecular Genetics +13
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