T
Taneli Raivio
Researcher at University of Helsinki
Publications - 144
Citations - 6079
Taneli Raivio is an academic researcher from University of Helsinki. The author has contributed to research in topics: Kallmann syndrome & Hypogonadotropic hypogonadism. The author has an hindex of 38, co-authored 129 publications receiving 5187 citations. Previous affiliations of Taneli Raivio include University Hospital of Lausanne & Boston Children's Hospital.
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Journal ArticleDOI
Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment
Ulrich Boehm,Pierre Bouloux,Mehul T. Dattani,Nicolas de Roux,Catherine Dodé,Leo Dunkel,Andrew A. Dwyer,Paolo Giacobini,J.-P. Hardelin,Anders Juul,Mohamad Maghnie,Nelly Pitteloud,Vincent Prevot,Taneli Raivio,Manuel Tena-Sempere,Richard Quinton,Jacques Young +16 more
TL;DR: A timely diagnosis and treatment to induce puberty can be beneficial for sexual, bone and metabolic health, and might help minimize some the psychological effects of CHH.
Journal ArticleDOI
Comparison of solution-based exome capture methods for next generation sequencing.
Anna-Maija Kristiina Sulonen,Pekka Ellonen,Henrikki Almusa,Maija Lepistö,Samuli Eldfors,Sari Hannula,Timo Miettinen,Henna Tyynismaa,Perttu Salo,Perttu Salo,Caroline A. Heckman,Heikki Joensuu,Taneli Raivio,Taneli Raivio,Anu Suomalainen,Janna Saarela +15 more
TL;DR: A systematic comparison of the solution-based exome capture kits provided by Agilent and Roche NimbleGen and a bioinformatics pipeline for quality control, short read alignment, variant identification and annotation of the sequence data are developed.
Journal ArticleDOI
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
Nelly Pitteloud,Chengkang Zhang,Duarte Pignatelli,Jia-Da Li,Taneli Raivio,Lindsay W. Cole,Lacey Plummer,Elka Jacobson-Dickman,Pamela L. Mellon,Qun-Yong Zhou,William F. Crowley +10 more
TL;DR: It is hypothesize that mutations in prokineticin 2 (PROK2) underlie some cases of KS in humans and that animals deficient in Prok2 would be hypogonadotropic.
Comparison of solution-based exome capture methods for next generation sequencing
Anna-Maija Kristiina Sulonen,Pekka Ellonen,Henrikki Almusa,Maija Lepistö,Samuli Eldfors,Sari Hannula,Timo Miettinen,Henna Tyynismaa,Perttu Salo,Perttu Salo,Caroline A. Heckman,Heikki Joensuu,Taneli Raivio,Taneli Raivio,Anu Suomalainen,Janna Saarela +15 more
TL;DR: In this paper, a comparison of the solution-based exome capture kits provided by Agilent and Roche NimbleGen is conducted, and the results show that the Nimblegen exome captures are more accurate at aligning the exome libraries aligned to the target regions.
Journal ArticleDOI
Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy
Alexandra Götz,Henna Tyynismaa,Liliya Euro,Pekka Ellonen,Tuulia Hyötyläinen,Tiina Ojala,Riikka H. Hämäläinen,Johanna Tommiska,Johanna Tommiska,Taneli Raivio,Taneli Raivio,Matej Orešič,Riitta Karikoski,Riitta Karikoski,Outi Tammela,Kalle O. J. Simola,Anders Paetau,Anders Paetau,Tiina Tyni,Tiina Tyni,Anu Suomalainen,Anu Suomalainen +21 more
TL;DR: It is shown that mutations in AARS2 cause perinatal or infantile cardiomyopathy with near-total combined mitochondrial respiratory chain deficiency in the heart and that mitochondrial disorders extend to prenatal life and are an important cause of early infantile cardiac failure.