D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics D-index 60 Citations 10,493 181 World Ranking 2378 National Ranking 16

Overview

What is she best known for?

The fields of study she is best known for:

  • Gene
  • Mutation
  • Genetics

Irma Järvelä mainly focuses on Genetics, Autism, Gene, Locus and Developmental disorder. Haplotype, Linkage disequilibrium, Allele, Phenotype and Genotype are the core of her Genetics study. Her Autism study combines topics in areas such as Genome, Copy-number variation, Chromosomal region and Genome Scan.

Irma Järvelä interconnects Molecular biology and Autism spectrum disorder in the investigation of issues within Gene. Her study explores the link between Locus and topics such as Gene mapping that cross with problems in Genetic marker, Genetic linkage, SNP, Gene mutation and Allele frequency. Her research in Developmental disorder tackles topics such as Candidate gene which are related to areas like Causes of autism.

Her most cited work include:

  • Identification of a DNA variant associated with adult type hypolactasia (829 citations)
  • Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders (297 citations)
  • A Genomewide Screen for Autism-Spectrum Disorders: Evidence for a Major Susceptibility Locus on Chromosome 3q25-27 (208 citations)

What are the main themes of her work throughout her whole career to date?

Her primary areas of investigation include Genetics, Gene, Genotype, Internal medicine and Lactase. Her work is dedicated to discovering how Genetics, Autism are connected with Candidate gene and Chromosomal region and other disciplines. Her Gene research is multidisciplinary, incorporating perspectives in Disease and Bioinformatics.

The concepts of her Genotype study are interwoven with issues in Physiology and Macular degeneration. The various areas that Irma Järvelä examines in her Internal medicine study include Gastroenterology and Endocrinology. Her study in Lactase is interdisciplinary in nature, drawing from both Lactase persistence, Single-nucleotide polymorphism and Lactose intolerance.

She most often published in these fields:

  • Genetics (70.51%)
  • Gene (24.88%)
  • Genotype (18.43%)

What were the highlights of her more recent work (between 2012-2021)?

  • Genetics (70.51%)
  • Candidate gene (17.51%)
  • Gene (24.88%)

In recent papers she was focusing on the following fields of study:

Genetics, Candidate gene, Gene, Aptitude and Exome sequencing are her primary areas of study. Her work is connected to Founder effect, Copy-number variation, Allele, Missense mutation and Genetic heterogeneity, as a part of Genetics. In her research on the topic of Allele, Autism, Microsatellite, Transcription factor, Haplotype and Odds ratio is strongly related with Genetic association.

Irma Järvelä interconnects Computational biology, Peripheral blood and Pathology in the investigation of issues within Gene. Her study on Aptitude also encompasses disciplines like

  • Genomics together with Genome wide analysis,
  • Neuroscience and related Regulation of gene expression,
  • Auditory perception that intertwine with fields like GATA2 and Genetic linkage. Irma Järvelä works mostly in the field of Phenotype, limiting it down to concerns involving Endocrinology and, occasionally, Internal medicine.

Between 2012 and 2021, her most popular works were:

  • Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music (64 citations)
  • Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci (55 citations)
  • A genome-wide linkage and association study of musical aptitude identifies loci containing genes related to inner ear development and neurocognitive functions. (47 citations)

In her most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • Genetics

The scientist’s investigation covers issues in Genetics, Candidate gene, Cognition, Aptitude and Sound perception. Irma Järvelä conducted interdisciplinary study in her works that combined Genetics and Music psychology. Her research in Candidate gene focuses on subjects like Copy-number variation, which are connected to Structural variation, DISC1 and Genetic architecture.

Her work carried out in the field of Cognition brings together such families of science as Quantitative trait locus, Computational biology and Sensory system. Her research in Sound perception intersects with topics in Neurocognitive and Zebra finch. Her Genetic linkage study deals with Phenotype intersecting with Single-nucleotide polymorphism.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

Identification of a DNA variant associated with adult type hypolactasia

Leena Peltonen;Nabil Enattah;Irma Jarvela;Timo Sahi.
Nature Genetics (2004)

1288 Citations

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.
PLOS Genetics (2012)

426 Citations

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.
American Journal of Human Genetics (2002)

293 Citations

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

Matti Laine;Hanna Jarva;Hanna Jarva;Sanna Seitsonen;Karita Haapasalo.
Journal of Immunology (2007)

271 Citations

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

Rasinperä H;Savilahti E;Enattah Ns;Kuokkanen M.
Gut (2004)

259 Citations

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

M Kuokkanen;N S Enattah;A Oksanen;E Savilahti.
Gut (2003)

250 Citations

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.
American Journal of Human Genetics (2008)

228 Citations

Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)

Juha M. Holopainen;Juhani Saarikoski;Paavo K. J. Kinnunen;Irma Järvelä.
FEBS Journal (2001)

226 Citations

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

Irma Järvelä;Markku Sainio;Terhi Rantamäki;Vesa M. Olkkonen.
Human Molecular Genetics (1998)

220 Citations

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.
Human Molecular Genetics (1997)

209 Citations

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