Anna-Elina Lehesjoki

Research.com Recognitions

• 2026 - Research.com Genetics in Finland Leader Award
• 2025 - Research.com Genetics in Finland Leader Award
• 2024 - Research.com Genetics in Finland Leader Award

Overview

Best Publications

• Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)

  Len A. Pennacchio;Anna-Elina Lehesjoki;Nancy E. Stone;Virginia L. Willour

  667
  Citations

• Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

  Johannes R Lemke;Dennis Lal;Eva M Reinthaler;Isabelle Steiner

  501
  Citations

• Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.

  Eija Siintola;Sanna Partanen;Petter Strömme;Aleksi Haapanen

  499
  Citations

• Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

  Bassel Abou-Khalil;Pauls Auce;Andreja Avbersek;Melanie Bahlo

  470
  Citations

• Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

  Juha Kolehmainen;Graeme C.M. Black;Graeme C.M. Black;Anne Saarinen;Kate Chandler

  422
  Citations

• WNT1 Mutations in Early-onset Osteoporosis and Osteogenesis Imperfecta

  Christine M. Laine;Kyu Sang Joeng;Philippe M. Campeau;Riku Kiviranta

  367
  Citations

• Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

  Maria Kousi;Anna-Elina Lehesjoki;Sara E. Mole

  356
  Citations

• The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.

  Susanna Ranta;Yonghui Zhang;Barbara Ross;Liina Lonka

  355
  Citations

• A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

  Mikko Muona;Samuel F. Berkovic;Leanne M. Dibbens;Karen L. Oliver

  341
  Citations

• De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

  Steffen Syrbe;Ulrike B.S. Hedrich;Erik Riesch;Tania Djémié

  337
  Citations

• GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects

  Konrad Platzer;Hongjie Yuan;Hannah Schütz;Alexander Winschel

  272
  Citations

• 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;Angela Kecskés;Yvonne Weber

  263
  Citations

• The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

  Anna-Kaisa Anttonen;Ibrahim Mahjneh;Riikka H Hämäläinen;Clotilde Lagier-Tourenne

  262
  Citations

• De novo mutations in HCN1 cause early infantile epileptic encephalopathy

  Caroline Nava;Carine Dalle;Agnès Rastetter;Pasquale Striano

  262
  Citations

• Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

  Tarja Joensuu;Riikka Hämäläinen;Bo Yuan;Cheryl Johnson

  259
  Citations

• The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter

  Eija Siintola;Meral Topcu;Nina Aula;Hannes Lohi

  245
  Citations

• Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

  Kimmo Virtaneva;Elena D'Amato;Jinmin Miao;Marjaleena Koskiniemi

  231
  Citations

• Clinical and genetic distinction between Walker–Warburg syndrome and muscle–eye–brain disease

  B. Cormand;H. Pihko;M. Bayes;M. Bayes;L. Valanne

  201
  Citations

• Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22.

  A E Lehesjoki;M Koskiniemi;P Sistonen;J Miao

  201
  Citations

• Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

  Silke Appenzeller;Rudi Balling;Nina Barisic;Stéphanie Baulac

  33
  Citations