Elisa Rahikkala - Concepedia

Author

Elisa Rahikkala

Also Known As

Anne Remes, Antti Aarnisalo, E. Rahikkala, E., Rahikkala, Elisa J Rahikkala, Elisa J. Rahikkala, Elisa Johanna Rahikkala, Elisa Rahikkala, Eveliina Salminen, Heiko Runz

Publications

2.1K

Citations

H-Index

Concepts

All Affiliations

University of Oulu Oulu University Hospital University of Helsinki Massachusetts General Hospital Institute for Molecular Medicine Finland

About

Elisa Rahikkala is an author at University of Oulu specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	526
2	Social Sciences	2	2	197
3	Health Sciences	1	1	32
4	Natural Sciences	1	1	17
5	Biochemistry	1	1	43

Elisa Rahikkala

Publications

1.7K

Citations

H-Index

Page 1

	Year	Citations
Association of <i>MTOR</i> Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism Ghayda Mirzaa, Catarina D. Campbell, Nadia Solovieff, JAMA Neurology	2016	272
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms Bianca Tesi, Josef Davidsson, Elisa Rahikkala, Blood	2017	197
A mutation update on the LDS-associated genes<i>TGFB2/3</i>and<i>SMAD2/3</i> Dorien Schepers, Giada Tortora, Hiroko Morisaki, Human Mutation	2018	160
De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy Jae-Ran Lee, Myriam Srour, Doyoun Kim, Human Mutation Neurological DisorderGeneticsSpastic ParaparesisDisease Gene IdentificationDe Novo Mutations	2014	151
Genetic Risk Factors Associated With Preeclampsia and Hypertensive Disorders of Pregnancy Jaakko Tyrmi, Tea Kaartokallio, A. Inkeri Lokki, JAMA Cardiology	2023	114
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT Curtis R. Coughlin, Michael A. Swanson, Kathryn E. Kronquist, Genetics in Medicine Metabolic SyndromeMetabolic DisorderGenetic DisorderGeneticsDiabetes	2016	97
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa Björn Fischer‐Zirnsak, Nathalie Escande‐Beillard, Jaya Ganesh, The American Journal of Human Genetics BiologyPyrroline-5-carboxylate Synthase CauseGeneticsMolecular GeneticsProgeroid Form	2015	86
Transcription factor 7-like 1 is involved in hypothalamo–pituitary axis development in mice and humans Carles Gaston‐Massuet, Mark J. McCabe, Valeria Scagliotti, Proceedings of the National Academy of Sciences	2016	77
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland Mitja Kurki, Elmo Saarentaus, Olli Pietiläinen, Nature Communications	2019	55
The <i>CHD8</i> overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients Philip J. Ostrowski, Anna Zachariou, Chey Loveday, American Journal of Medical Genetics Part C Seminars in Medical Genetics	2019	49

Page 1