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J. Känsäkoski · SciRah

Researcher profile · Semantic Scholar

J. Känsäkoski

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J. Känsäkoski — researcher profile on SciRah

h-index: 15
Works: 30
Citations: 608

Most-cited papers

Congenital hypogonadotropic hypogonadism, functional hypogonadotropism or constitutional delay of growth and puberty? An analysis of a large patient series from a single tertiary center
T. Varimo, P. Miettinen, J. Känsäkoski, T. Raivio +1 more
2016Human Reproduction83 citations
Semantic Scholar
Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism
J. Känsäkoski, R. Fagerholm, E. Laitinen, K. Vaaralahti +4 more
2014Pediatric Research71 citations
Semantic Scholar
WDR11‐mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome
Yeon-Joo Kim, D. Osborn, Ji-Young Lee, M. Araki +14 more
2017bioRxiv52 citations Open access
Semantic Scholar
Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene
J. Känsäkoski, J. Jääskeläinen, T. Jääskeläinen, J. Tommiska +7 more
2016Scientific Reports51 citations Open access
Semantic Scholar
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
A. Messina, K. Pulli, S. Santini, J. Acierno +18 more
2019American Journal of Human Genetics46 citations Open access
Semantic Scholar
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis
J. Tommiska, J. Känsäkoski, Lasse Skibsbye, K. Vaaralahti +31 more
2017Nature Communications40 citations Open access
Semantic Scholar
A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty
J. Känsäkoski, T. Raivio, A. Juul, J. Tommiska
2015Pediatric Research36 citations
Semantic Scholar
MKRN3 Interacts With Several Proteins Implicated in Puberty Timing but Does Not Influence GNRH1 Expression
Venkatram Yellapragada, Xiao-Nan Liu, Carina Lund, J. Känsäkoski +6 more
2019Frontiers in Endocrinology32 citations Open access
Semantic Scholar
De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss
K. Vaaralahti, J. Tommiska, V. Tillmann, Natalja Liivak +3 more
2014Pediatric Research32 citations
Semantic Scholar
PROKR2 mutations in autosomal recessive Kallmann syndrome.
J. Tommiska, J. Toppari, K. Vaaralahti, J. Känsäkoski +5 more
2013Fertility and Sterility26 citations Open access
Semantic Scholar
Genetics of congenital hypogonadotropic hypogonadism in Denmark.
J. Tommiska, J. Känsäkoski, P. Christiansen, N. Jørgensen +3 more
2014European Journal of Medical Genetics24 citations
Semantic Scholar
Childhood growth in boys with congenital hypogonadotropic hypogonadism
T. Varimo, M. Hero, E. Laitinen, P. Miettinen +4 more
2015Pediatric Research22 citations Open access
Semantic Scholar
Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism
J. Hietamäki, L. Gregory, Sandy Ayoub, Anna-Pauliina Iivonen +12 more
2020Journal of Clinical Endocrinology and Metabolism21 citations Open access
Semantic Scholar
Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients
S. Tuupanen, K. Gall, J. Sistonen, I. Saarinen +20 more
2022Translational Vision Science & Technology19 citations Open access
Semantic Scholar
GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency
J. Hietamäki, M. Hero, E. Holopainen, J. Känsäkoski +4 more
2017PLoS ONE15 citations Open access
Semantic Scholar
Familial central precocious puberty: two novel MKRN3 mutations
T. Varimo, Anna-Pauliina Iivonen, J. Känsäkoski, Karoliina Wehkalampi +5 more
2020Pediatric Research9 citations Open access
Semantic Scholar
Circulating makorin ring‐finger protein‐3 (MKRN3) levels in healthy men and in men with hypogonadotropic hypogonadism
T. Varimo, M. Hero, J. Känsäkoski, K. Vaaralahti +2 more
2016Clinical Endocrinology7 citations
Semantic Scholar
Prevalence and genetic characteristics of RPE65-associated retinal disease
T. Alastalo, K. Kämpjärvi, L. Guidugli, J. Känsäkoski +8 more
20194 citations
Semantic Scholar
New intronic Fibroblast Growth Factor Receptor 1 (FGFR1) mutation leading to disrupted splicing and Kallmann syndrome
J. Känsäkoski, K. Vaaralahti, T. Raivio
2018Human Reproduction4 citations Open access
Semantic Scholar
A splice site variant in MADD affects hormone expression in pancreatic β cells and pituitary gonadotropes
K. Pulli, J. Saarimäki-Vire, P. Ahonen, Xiao-Nan Liu +14 more
2024JCI Insight3 citations Open access
Semantic Scholar
Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients
Anna-Pauliina Iivonen, J. Känsäkoski, K. Vaaralahti, T. Raivio
2019Endocrine Connections3 citations Open access
Semantic Scholar
The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome
Heta Huttunen, M. Hero, Mitja Lääperi, J. Känsäkoski +4 more
2018Frontiers in Endocrinology3 citations Open access
Semantic Scholar
Circulating makorin ring‐finger protein‐3 (MKRN3) levels in healthy men and in men with hypogonadotropic hypogonadism
T. Varimo, M. Hero, J. Känsäkoski, K. Vaaralahti +2 more
2016Clinical Endocrinology3 citations Open access
Semantic Scholar
Human pluripotent stem cell-derived cells endogenously expressing follicle-stimulating hormone receptors: modeling the function of an inactivating receptor mutation
K. Lundin, K. Sepponen, P. Väyrynen, X. Liu +15 more
2022Molecular human reproduction2 citations Open access
Semantic Scholar
Gonadotropin‐releasing hormone receptor mutations in ageing men
J. Tommiska, J. Känsäkoski, N. Pitteloud, Frederick C. W. Wu +1 more
2016Clinical Endocrinology2 citations
Semantic Scholar
eP398: Searching beyond the exons in nuclear genes: Diagnostic deep intronic and mitochondrial variants in patients with monogenic diabetes
A. Scocchia, K. Gall, J. Hathaway, A. Taylor +13 more
2022Genetics in Medicine0 citations Open access
Semantic Scholar
Next generation sequencing-based genetic testing reveals key diagnostic contribution by copy number variants in inherited retinal diseases
K. Wells, K. Kämpjärvi, L. Guidugli, J. Känsäkoski +12 more
20200 citations
Semantic Scholar
Two missense mutations in KCNQ 1 cause pituitary hormone de fi ciency and maternally inherited gingival
J. Tommiska, J. Känsäkoski, Lasse Skibsbye, K. Vaaralahti +21 more
20180 citations
Semantic Scholar
Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients
Anna-Pauliina Iivonen, J. Känsäkoski, A. Karppinen, L. Kivipelto +3 more
2018Endocrine Connections0 citations Open access
Semantic Scholar
Molecular genetics of rare puberty disorders in Finland and Denmark
J. Känsäkoski
20170 citations
Semantic Scholar

Frequent co-authors

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T. Raivio×25
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T. Raivio — researcher profile on SciRah
K. Vaaralahti×14
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K. Vaaralahti — researcher profile on SciRah
J. Tommiska×13
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J. Tommiska — researcher profile on SciRah
M. Hero×8
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M. Hero — researcher profile on SciRah

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P. Miettinen — researcher profile on SciRah

M. Varjosalo×6

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M. Varjosalo — researcher profile on SciRah

Anna-Pauliina Iivonen×6

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Anna-Pauliina Iivonen — researcher profile on SciRah

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T. Varimo — researcher profile on SciRah

Xiao-Nan Liu×5

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Xiao-Nan Liu — researcher profile on SciRah

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S. Vuoristo — researcher profile on SciRah

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E. Laitinen — researcher profile on SciRah

N. Pitteloud×4

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N. Pitteloud — researcher profile on SciRah