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D-Index
63
Citations
11954
World Ranking
2914
National Ranking
21

Overview

Irma Järvelä is affiliated with the University of Helsinki in Finland and conducts research primarily in the fields of biochemistry, genetics, and molecular biology. Their scholarly work encompasses a range of topics related to genetics, neurodevelopmental disorders, and genomic variations.

The scientist's research portfolio consists of 38 publications in biochemistry, genetics, and molecular biology, with a substantial focus on genetics through 27 publications. Other subfields addressed include molecular biology, cognitive neuroscience, social psychology, and speech and hearing.

Key topics of research include:

  • Genetics and neurodevelopmental disorders
  • Genomics and rare diseases
  • Genomic variations and chromosomal abnormalities
  • Congenital heart defects research
  • Chromatin remodeling and cancer
  • RNA and protein synthesis mechanisms
  • Music therapy and health

Their frequent collaborators include Isabelle Schrauwen, Suzanne M. Leal, Anushree Acharya, James R. Lupski, and Tuomo Määttä.

Irma Järvelä has contributed to numerous scientific journals, with multiple publications appearing in The American Journal of Human Genetics and Molecular Genetics & Genomic Medicine. Other venues include UNC Libraries, Human Genetics, and Epigenetics.

Selected recent papers authored or coauthored by Irma Järvelä comprise:

  • Music-listening regulates human microRNA expression, 2020, Epigenetics
  • Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland, 2021, Human Genetics
  • Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome, 2021, Genetics in Medicine
  • The Finnish genetic heritage in 2022 - from diagnosis to translational research, 2022, Disease Models & Mechanisms
  • Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders, 2021, Journal of Medical Genetics

Best Publications

  • Identification of a DNA variant associated with adult type hypolactasia

    Leena Peltonen;Nabil Enattah;Irma Jarvela;Timo Sahi

  • Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

    Claire S. Leblond;Jutta Heinrich;Richard Delorme;Christian Proepper

  • A Genomewide Screen for Autism-Spectrum Disorders: Evidence for a Major Susceptibility Locus on Chromosome 3q25-27

    Mari Auranen;Raija Vanhala;Teppo Varilo;Kristin Ayers

  • Y402H polymorphism of complement factor H affects binding affinity to C-reactive protein

    Matti Laine;Hanna Jarva;Hanna Jarva;Sanna Seitsonen;Karita Haapasalo

  • A genetic test which can be used to diagnose adult-type hypolactasia in children

    Rasinperä H;Savilahti E;Enattah Ns;Kuokkanen M

  • Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia

    M Kuokkanen;N S Enattah;A Oksanen;E Savilahti

  • Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

    Guido Froyen;Mark Corbett;Joke Vandewalle;Irma Jarvela;Irma Jarvela

  • Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)

    Juha M. Holopainen;Juhani Saarikoski;Paavo K. J. Kinnunen;Irma Järvelä

  • Biosynthesis and Intracellular Targeting of the CLN3 Protein Defective in Batten Disease

    Irma Järvelä;Markku Sainio;Terhi Rantamäki;Vesa M. Olkkonen

  • Loci for Classical and a Variant Late Infantile Neuronal Ceroid Lipofuscinosis Map to Chromosomes 11p15 and 15q21–23

    J. D. Sharp;R. B. Wheeler;B. D. Lake;M. Savukoski

  • Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans.

    Nabil Sabri Enattah;Aimee Trudeau;Ville Pimenoff;Luigi Maiuri

  • Musical aptitude is associated with AVPR1A-Haplotypes

    Liisa T. Ukkola;Päivi Onkamo;Pirre Raijas;Kai Karma

  • Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families.

    Tero Ylisaukko-oja;Maricela Alarcón;Rita M. Cantor;Mari Auranen

  • Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway

    Kaisu Luiro;Kristiina Yliannala;Laura Ahtiainen;Heidi Maunu

  • Analysis of four neuroligin genes as candidates for autism

    Tero Ylisaukko-oja;Karola Rehnström;Mari Auranen;Raija Vanhala

  • A heterogeneity-based genome search meta-analysis for autism-spectrum disorders.

    T A Trikalinos;T A Trikalinos;A Karvouni;E Zintzaras;T Ylisaukko-oja

  • Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome?

    Miina Ollikainen;Wael M. Abdel-Rahman;Anu-Liisa Moisio;Annette Lindroos

  • Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1.

    Irma Järvelä;Johanna Schleutker;Leena Haataja;Pirkko Santavuori

  • Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.

    Mikko Kuokkanen;Jorma Kokkonen;Nabil Sabri Enattah;Tero Ylisaukko-oja

  • Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation | NOVA. The University of Newcastle's Digital Repository

    Guy Froyen;Mark Corbett;Jamel Chelly;Damien Sanlaville

Frequent Co-Authors

Seppo Meri
Seppo Meri University of Helsinki
Leena Peltonen
Leena Peltonen University of Helsinki
Erkki Savilahti
Erkki Savilahti University of Helsinki
Sara E. Mole
Sara E. Mole University College London
Jozef Gecz
Jozef Gecz University of Adelaide
Juha Kere
Juha Kere Karolinska Institute
Harri Lähdesmäki
Harri Lähdesmäki Aalto University
Jamel Chelly
Jamel Chelly Institute of Genetics and Molecular and Cellular Biology
Patricia B. Munroe
Patricia B. Munroe Queen Mary University of London
Aarno Palotie
Aarno Palotie University of Helsinki

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