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Neurogenetics
H-index 13

Neurogenetics

1364-6745

Published by: Springer

https://www.springer.com/journal/10048

Ranking & Metrics

Discipline name Position Best Scientists Publications D-Index
Genetics 82 48 50 11
Neuroscience 340 22 23 7

Additional Metrics

Number of Best Scientists*: 120
Documents by Best Scientists*: 81
Top 100 Ranked Scientists*: 3
SCIMAGO H-index: 70
SCIMAGO SJR: 0.676
Impact Factor: 1.2

Overview

Top Research Topics at Neurogenetics?

Neurogenetics mainly deals with areas of study such as Genetics, Human genetics, Gene, Mutation and Missense mutation. Locus (genetics), Phenotype, Exon, Allele and Haplotype are all aspects of Genetics research featured in it. The Locus (genetics) works featured in the journal incorporate elements from Hereditary spastic paraplegia, Genetic heterogeneity, Genetic linkage and Candidate gene.

Neurogenetics explores research in Exon and the adjacent study of Molecular biology. Allele research featured in it incorporates concerns from various other topics such as Genetic association and Genotype. In addition to Human genetics research, it aims to explore topics under Exome sequencing, Bioinformatics, Molecular medicine, Mutation (genetic algorithm) and Disease.

The works on Gene deal in particular with Gene expression. It features studies on Mutation, including topics such as Point mutation. The study on Missense mutation presented is investigated in conjunction with research in Ataxia.

  • Genetics (68.99%)
  • Human genetics (36.57%)
  • Gene (23.79%)

What are the most cited papers published in the journal?

  • Gene expression analyses reveal molecular relationships among 20 regions of the human CNS (276 citations)
  • Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. (232 citations)
  • PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. (224 citations)

Research areas of the most cited articles at Neurogenetics:

The journal papers primarily focus on research topics in Genetics, Human genetics, Mutation, Gene and Missense mutation. The most cited articles link adjacent topics like Genetics with Age of onset. While work presented in the published papers provide substantial information on Human genetics, it also covers topics in Genetic marker, Disease, Neuroscience and Bioinformatics.

What topics the last edition of the journal is best known for?

  • Gene
  • Mutation
  • Internal medicine

The previous edition focused in particular on these issues:

Neurogenetics mostly deals with topics like Genetics, Human genetics, Neurology, Phenotype and Missense mutation. Gene, Mutation, Sanger sequencing, Microcephaly and Genetic heterogeneity are among the concentrations of Genetics that garnered much attention in it. The journal deals with Gene in conjunction with Ataxia and similar fields in Genetic association and Genome-wide association study.

The journal explores topics in Human genetics which can be helpful for research in disciplines like Molecular medicine, Intellectual disability, Frameshift mutation, Autism spectrum disorder and Genotype. The studies on Phenotype discussed can also contribute to research in the domains of Dravet syndrome, Epilepsy, Amyotrophic lateral sclerosis and Myoclonus. In the journal, Loss function, Neurodevelopmental disorder, Leukodystrophy, Age of onset and Cerebellar ataxia are investigated in conjunction with one another to address concerns in Missense mutation research.

The most cited articles from the last journal are:

  • A novel pathogenic variant in the 3' end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype? (2 citations)
  • Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR (2 citations)
  • X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant. (1 citations)

Papers citation over time

A key indicator for each journal is its effectiveness in reaching other researchers with the papers published at that venue.

The chart below presents the interquartile range (first quartile 25%, median 50% and third quartile 75%) of the number of citations of articles over time.

The top authors publishing in Neurogenetics (based on the number of publications) are:

  • Margaret A. Pericak-Vance (28 papers) absent at the last edition,
  • Manuel B. Graeber (18 papers) published 1 paper at the last edition,
  • Ulrich Müller (18 papers) published 1 paper at the last edition,
  • Alexis Brice (18 papers) published 2 papers at the last edition,
  • Jonathan L. Haines (16 papers) absent at the last edition.

The overall trend for top authors publishing in this journal is outlined below. The chart shows the number of publications at each edition of the journal for top authors.

Only papers with recognized affiliations are considered

The top affiliations publishing in Neurogenetics (based on the number of publications) are:

  • Boston Children's Hospital (53 papers) published 3 papers at the last edition, 1 more than at the previous edition,
  • French Institute of Health and Medical Research (40 papers) published 3 papers at the last edition,
  • Harvard University (38 papers) published 1 paper at the last edition,
  • Duke University (36 papers) absent at the last edition,
  • National Institutes of Health (26 papers) published 1 paper at the last edition.

The overall trend for top affiliations publishing in this journal is outlined below. The chart shows the number of publications at each edition of the journal for top affiliations.

Publication chance based on affiliation

The publication chance index shows the ratio of articles published by the best research institutions in the journal edition to all articles published within that journal. The best research institutions were selected based on the largest number of articles published during all editions of the journal.

The chart below presents the percentage ratio of articles from top institutions (based on their ranking of total papers).Top affiliations were grouped by their rank into the following tiers: top 1-10, top 11-20, top 21-50, and top 51+. Only articles with a recognized affiliation are considered.

During the most recent 2021 edition, 8.70% of publications had an unrecognized affiliation. Out of the publications with recognized affiliations, 16.67% were posted by at least one author from the top 10 institutions publishing in the journal. Another 11.90% included authors affiliated with research institutions from the top 11-20 affiliations. Institutions from the 21-50 range included 21.43% of all publications and 50.00% were from other institutions.

Returning Authors Index

A very common phenomenon observed among researchers publishing scientific articles is the intentional selection of journals they have already attended in the past. In particular, it is worth analyzing the case when the authors participate in the same journal from year to year.

The Returning Authors Index presented below illustrates the ratio of authors who participated in both a given as well as the previous edition of the journal in relation to all participants in a given year.

Returning Institution Index

The graph below shows the Returning Institution Index, illustrating the ratio of institutions that participated in both a given and the previous edition of the conference in relation to all affiliations present in a given year.

The experience to innovation index

Our experience to innovation index was created to show a cross-section of the experience level of authors publishing in a journal. The index includes the authors publishing at the last edition of a journal, grouped by total number of publications throughout their academic career (P) and the total number of citations of these publications ever received (C).

The group intervals were selected empirically to best show the diversity of the authors' experiences, their labels were selected as a convenience, not as judgment. The authors were divided into the following groups:

  • Novice - P < 5 or C < 25 (the number of publications less than 5 or the number of citations less than 25),
  • Competent - P < 10 or C < 100 (the number of publications less than 10 or the number of citations less than 100),
  • Experienced - P < 25 or C < 625 (the number of publications less than 25 or the number of citations less than 625),
  • Master - P < 50 or C < 2500 (the number of publications less than 50 or the number of citations less than 2500),
  • Star - P ≥ 50 and C ≥ 2500 (both the number of publications greater than 50 and the number of citations greater than 2500).

The chart below illustrates experience levels of first authors in cases of publications with multiple authors.

Top Publications

  • Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease.

    Jana Key;Antonia Maletzko;Aneesha Kohli;Suzana Gispert

    (2020)
    21 Citations
  • Spinocerebellar ataxias (SCAs) caused by common mutations

    Ulrich Müller

    (2021)
    21 Citations
  • Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.

    Chiara Ticci;Federico Sicca;Anna Ardissone;Enrico Bertini

    (2020)
    20 Citations
  • Oligogenicity, C9orf72 expansion, and variant severity in ALS.

    Jay P. Ross;Jay P. Ross;Claire S. Leblond;Sandra B. Laurent;Sandra B. Laurent;Dan Spiegelman;Dan Spiegelman

    (2020)
    17 Citations
  • ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

    Katja Kloth;Bernarda Lozic;Julia Tagoe;Mariëtte J V Hoffer

    (2021)
    17 Citations
  • An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation

    (2022)
    17 Citations
  • Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.

    Raffaella Brugnoni;Eleonora Canioni;Massimiliano Filosto;Antonella Pini

    (2021)
    15 Citations
  • Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse.

    Antonia Maletzko;Jana Key;Ilka Wittig;Suzana Gispert

    (2021)
    14 Citations
  • NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study

    (2021)
    14 Citations
  • Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.

    Jean-Loup Méreaux;Jean-Loup Méreaux;Cristina Firanescu;Giulia Coarelli;Malin Kvarnung;Malin Kvarnung

    (2021)
    13 Citations

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Best Scientists Contributing to This Journal