Tarja Linnankivi - Concepedia

Author

Tarja Linnankivi

Also Known As

Anni Saarela, Bernhard J. Steinhoff, Kuang-Lin Lin, Linnankivi Tarja, Primus E Mullis, T LINNANKIVI, T Linnankivi, T. Linnankivi, Tarja Linnankivi, Tarja T. Linnankivi

Publications

4.5K

Citations

H-Index

Concepts

All Affiliations

Helsinki University Hospital University of Helsinki Folkhälsans Forskningscentrum University of Southern Denmark Hertie Institute for Clinical Brain Research

About

Tarja Linnankivi is an author at Helsinki University Hospital specializing in medicine, neurogenetics, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	12	12	2K
2	Social Sciences	4	4	1.1K
3	Health Sciences	1	1	54
4	Natural Sciences	1	1	25
5	Public Health	1	1	58

Tarja Linnankivi

Publications

3.8K

Citations

H-Index

Page 1

	Year	Citations
Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i> Yanick J. Crow, Diana Chase, Johanna L. Schmidt, American Journal of Medical Genetics Part A	2015	589
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes Johannes R. Lemke, Dennis Lal, Eva M. Reinthaler, Nature Genetics Neurobiology Of DiseaseNeurophysiologyGeneticsRolandic SpikesClinical Neuroscience	2013	436
De novo variants in neurodevelopmental disorders with epilepsy Henrike Heyne, Tarjinder Singh, Hannah Stamberger, Nature Genetics Neurodevelopmental DisordersGenetic DisorderNeurologyNeuroscienceAbnormal Development	2018	306
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, The American Journal of Human Genetics Allelic VariantUltra-rare Genetic VariationWhole-exome Sequencing StudyGeneticsGenetic Disorder	2019	298
<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Konrad Platzer, Hongjie Yuan, Hannah M. Schutz, Journal of Medical Genetics	2017	249
De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome Arvid Suls, Johanna A. Jaehn, Angéla Kecskés, The American Journal of Human Genetics Chd2 CauseDravet SyndromeMolecular NeuroscienceNeurobiology Of DiseaseGenetic Disorder	2013	219
Mutations in CTC1 , Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts Anne Polvi, Tarja Linnankivi, Tero Kivelä, The American Journal of Human Genetics Cause Cerebroretinal MicroangiopathyOphthalmologyPathologyMolecular MedicineNeuropathology	2012	168
Defining the phenotypic spectrum of <i>SLC6A1</i> mutations Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi, Epilepsia	2018	146
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy Ingo Helbig, Tania López-Hernández, Oded Shor, The American Journal of Human Genetics Epileptic EncephalopathySignal TransductionDevelopmental BiologyMolecular NeuroscienceMedicine	2019	129
Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency Marcel Grapp, Isabell Anna Just, Tarja Linnankivi, Brain Brain DevelopmentGeneticsDisease Gene IdentificationSocial SciencesClinical Genetics	2012	126

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