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Journal of Medical Genetics
H-index 38

Journal of Medical Genetics

0022-2593

Published by: BMJ Publishing Group

https://jmg.bmj.com/

Ranking & Metrics

Discipline name Position Best Scientists Publications D-Index
Genetics 23 321 323 34

Additional Metrics

Number of Best Scientists*: 803
Documents by Best Scientists*: 488
Top 100 Ranked Scientists*: 23
SCIMAGO H-index: 194
SCIMAGO SJR: 1.62
Impact Factor: 3.7

Overview

Top Research Topics at Journal of Medical Genetics?

Genetics, Internal medicine, Endocrinology, Gene and Karyotype are the subjects of interest in the journal. The studies tackled, which mainly focus on Genetics, apply to Molecular biology as well. Internal medicine research presented in the journal encompasses a variety of subjects, including Gastroenterology and Oncology.

The work tackled in the journal goes beyond the discipline of Endocrinology as it also encompasses Pediatrics. Phenotype and Exon are some of the facets of Gene tackled in Journal of Medical Genetics. The journal holds forums on Karyotype that merges themes from other disciplines such as Trisomy and Chromosomal translocation.

It focused on Mutation research but expanded to cover Molecular genetics.

  • Genetics (52.52%)
  • Internal medicine (14.95%)
  • Endocrinology (10.47%)

What are the most cited papers published in the journal?

  • Genetic heterogeneity in osteogenesis imperfecta. (1613 citations)
  • The revised Ghent nosology for the Marfan syndrome (1243 citations)
  • Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. (967 citations)

Research areas of the most cited articles at Journal of Medical Genetics:

The main points discussed in the journal publications deal with Genetics, Internal medicine, Mutation, Endocrinology and Gene. The published papers primarily discuss Genetics topics, particularly Molecular genetics, Locus (genetics), Missense mutation, Allele and Phenotype. Gastroenterology and Oncology are some topics wherein Internal medicine research discussed in the most cited articles has an impact.

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

  • Internal medicine
  • Gene
  • Mutation

The previous edition focused in particular on these issues:

Journal of Medical Genetics mainly deals with areas of study such as Genetics, Exome sequencing, Gene, Missense mutation and Medical genetics. The journal focuses on different Genetics studies like Phenotype, Allele, Molecular genetics, Proband and Sanger sequencing. Some problems in Exome sequencing that were presented in Journal of Medical Genetics overlapped with concepts under Pediatrics and Candidate gene.

In addition to Medical genetics research, Journal of Medical Genetics aims to explore topics under Genetic testing, Cancer and Germline. Molecular biology and Mutant are some topics wherein Mutation research discussed in Journal of Medical Genetics have an impact. The studies in Germline mutation featured incorporate elements of Internal medicine and Oncology.

The most cited articles from the last journal are:

  • Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait (15 citations)
  • Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis (13 citations)
  • Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics (11 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 Journal of Medical Genetics (based on the number of publications) are:

  • Peter S. Harper (97 papers) absent at the last edition,
  • Arnold Munnich (97 papers) published 1 paper at the last edition, 1 less than at the previous edition,
  • Dian Donnai (71 papers) absent at the last edition,
  • Eamonn R. Maher (71 papers) published 2 papers at the last edition,
  • Frances Flinter (57 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 Journal of Medical Genetics (based on the number of publications) are:

  • Boston Children's Hospital (275 papers) published 29 papers at the last edition, 12 more than at the previous edition,
  • University of Cambridge (162 papers) published 10 papers at the last edition, 4 more than at the previous edition,
  • French Institute of Health and Medical Research (154 papers) published 11 papers at the last edition, 2 more than at the previous edition,
  • National Institutes of Health (113 papers) published 2 papers at the last edition, 5 less than at the previous edition,
  • University College London (99 papers) published 6 papers at the last edition, 4 more 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, 6.78% of publications had an unrecognized affiliation. Out of the publications with recognized affiliations, 35.15% were posted by at least one author from the top 10 institutions publishing in the journal. Another 15.15% included authors affiliated with research institutions from the top 11-20 affiliations. Institutions from the 21-50 range included 9.09% of all publications and 40.61% 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

  • Assessing performance of pathogenicity predictors using clinically relevant variant datasets

    Adam C Gunning;Verity Fryer;James Fasham;Andrew H Crosby

    (2021)
    94 Citations
  • Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility.

    Chunyu Liu;Mingrong Lv;Xiaojin He;Yong Zhu

    (2020)
    87 Citations
  • Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study

    (2022)
    78 Citations
  • Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

    (2021)
    77 Citations
  • Update and audit of the St George's classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis

    Kristiana Gordon;Ruth Varney;Vaughan Keeley;Katie Riches

    (2020)
    72 Citations
  • Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility.

    Guillaume Martinez;Julie Beurois;Denis Dacheux;Denis Dacheux;Caroline Cazin

    (2020)
    68 Citations
  • Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice

    Weiyu Li;Huan Wu;Huan Wu;Fuping Li;Shixiong Tian

    (2020)
    68 Citations
  • Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence

    (2022)
    67 Citations
  • Axenfeld-Rieger syndrome: more than meets the eye

    (2022)
    67 Citations
  • Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

    Gina Ravenscroft;Gina Ravenscroft;Joshua S Clayton;Joshua S Clayton;Fathimath Faiz;Padma Sivadorai

    (2021)
    60 Citations

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Best Scientists Contributing to This Journal