World's Best Scientists 2026 revealed!
Molecular genetics & genomic medicine
H-index 21

Molecular genetics & genomic medicine

Ranking & Metrics

Discipline name Position Best Scientists Publications D-Index
Genetics 50 192 176 19
Molecular Biology 107 30 37 9

Additional Metrics

Number of Best Scientists*: 509
Documents by Best Scientists*: 396
Top 100 Ranked Scientists*: 16
SCIMAGO H-index: 46
SCIMAGO SJR: 0.611
Impact Factor: 1.6

Overview

Top Research Topics at Molecular Genetics & Genomic Medicine?

The journal focuses on Genetics, Gene, Internal medicine, Exome sequencing and Sanger sequencing. Missense mutation, Mutation, Proband, Exon and Allele are some of the facets of Genetics tackled in it. Research on Mutation addressed in the journal frequently intersections with the field of Molecular biology.

Haplotype is a major topic of Allele research presented in Molecular Genetics & Genomic Medicine. Molecular Genetics & Genomic Medicine explores research in Gene and the adjacent study of Disease. While it focused on Internal medicine, it was also able to explore topics like Endocrinology, Oncology, Gastroenterology and Single-nucleotide polymorphism, Genotype.

Single-nucleotide polymorphism research is concerned with SNP in particular. Molecular Genetics & Genomic Medicine facilitates discussions on Exome sequencing that incorporate concepts from other fields like Compound heterozygosity and Bioinformatics. Topics in Sanger sequencing explored in it were investigated in conjunction with research in Genetic heterogeneity and Frameshift mutation.

  • Genetics (39.34%)
  • Gene (21.26%)
  • Internal medicine (16.30%)

What are the most cited papers published in the journal?

  • The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy (101 citations)
  • Living with a rare disorder: a systematic review of the qualitative literature (73 citations)
  • Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. (71 citations)

Research areas of the most cited articles at Molecular Genetics & Genomic Medicine:

The journal publications facilitate discussions on Genetics, Gene, Missense mutation, Mutation and Exome sequencing. The published papers investigate Genetics research which frequently intersects with Bioinformatics. The journal articles explore research in Gene alongside concepts in Disease and other areas of study in Genome, Genetic counseling and Intellectual disability.

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 Molecular Genetics & Genomic Medicine (based on the number of publications) are:

  • Jan C.-C. Hu (11 papers) absent at the last edition,
  • James P. Simmer (11 papers) absent at the last edition,
  • Yuanyuan Hu (10 papers) absent at the last edition,
  • Tianbo Jin (9 papers) absent at the last edition,
  • Fanglin Niu (9 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 Molecular Genetics & Genomic Medicine (based on the number of publications) are:

  • Boston Children's Hospital (125 papers) published 19 papers at the last edition, 15 less than at the previous edition,
  • National Institutes of Health (46 papers) published 6 papers at the last edition, 2 more than at the previous edition,
  • Shanghai Jiao Tong University (44 papers) published 12 papers at the last edition, 7 less than at the previous edition,
  • Central South University (43 papers) published 12 papers at the last edition, 2 less than at the previous edition,
  • Mayo Clinic (33 papers) published 4 papers at the last edition, 1 less than at the previous 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, 6.37% of publications had an unrecognized affiliation. Out of the publications with recognized affiliations, 25.20% were posted by at least one author from the top 10 institutions publishing in the journal. Another 7.60% included authors affiliated with research institutions from the top 11-20 affiliations. Institutions from the 21-50 range included 12.00% of all publications and 55.20% 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

  • Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.

    Natalie B Tan;Rachel Stapleton;Zornitza Stark;Martin B Delatycki

    (2020)
    72 Citations
  • Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.

    Lauren Cascio;Chin‐Fu Chen;Rini Pauly;Sujata Srikanth

    (2020)
    52 Citations
  • A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome

    (2022)
    50 Citations
  • VPS13D‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia

    Kishin Koh;Hiroyuki Ishiura;Haruo Shimazaki;Michiko Tsutsumiuchi

    (2020)
    37 Citations
  • Genetic counseling during COVID-19 pandemic: Tuscany experience.

    Angelica Pagliazzi;Giorgia Mancano;Giulia Forzano;Fabiana di Giovanni

    (2020)
    36 Citations
  • Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment

    Stefano Paolacci;Aysha Karim Kiani;Elena Manara;Tommaso Beccari

    (2020)
    34 Citations
  • Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus.

    Adam J Shapiro;Kimberley Kaspy;M Leigh Ann Daniels;Jaclyn R Stonebraker

    (2021)
    28 Citations
  • Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

    Angèle Tingaud-Sequeira;Aurélien Trimouille;Sandrine Marlin;Estelle Lopez

    (2020)
    27 Citations
  • Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations

    Inna Slynko;Stephanie Nguyen;Eline M.C. Hamilton;Lisanne E. Wisse

    (2021)
    25 Citations

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Best Scientists Contributing to This Journal