World's Best Scientists 2026 revealed!
Molecular Genetics and Metabolism
H-index 30

Molecular Genetics and Metabolism

Ranking & Metrics

Discipline name Position Best Scientists Publications D-Index
Genetics 51 184 230 19
Molecular Biology 95 32 87 11
Medicine 859 265 658 25

Additional Metrics

Number of Best Scientists*: 723
Documents by Best Scientists*: 1344
Top 100 Ranked Scientists*: 22
SCIMAGO H-index: 129
SCIMAGO SJR: 0.915
Impact Factor: 3.5

Overview

Top Research Topics at Molecular Genetics and Metabolism?

The primary areas of discussion in Molecular Genetics and Metabolism are Internal medicine, Endocrinology, Genetics, Disease and Pediatrics. The journal explores issues in Internal medicine which can be linked to other research areas like Gastroenterology, Biochemistry and Oncology. Studies on Genetics discussed in Molecular Genetics and Metabolism link to the field of Molecular biology.

The field of Pathology is the anchor for the Disease studies presented in Molecular Genetics and Metabolism. It features studies on Pediatrics, including topics such as Newborn screening. The Enzyme replacement therapy study tackled is a key component of adjacent topics in the area of Surgery.

  • Internal medicine (25.77%)
  • Endocrinology (15.44%)
  • Genetics (14.58%)

What are the most cited papers published in the journal?

  • Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer (1198 citations)
  • A Second Genetic Polymorphism in Methylenetetrahydrofolate Reductase (MTHFR) Associated with Decreased Enzyme Activity (1122 citations)
  • Alu repeats and human disease. (795 citations)

Research areas of the most cited articles at Molecular Genetics and Metabolism:

The published papers generally zeroe in on subjects such as Internal medicine, Endocrinology, Genetics, Biochemistry and Molecular biology. In particular, the Internal medicine works presented in the most cited papers emphasize discussions on Enzyme replacement therapy. The journal articles explore topics in Endocrinology which can be helpful for research in disciplines like Arginine and Urea cycle.

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 and Metabolism (based on the number of publications) are:

  • Chester B. Whitley (205 papers) published 9 papers at the last edition, 4 less than at the previous edition,
  • Roberto Giugliani (196 papers) published 26 papers at the last edition, 7 more than at the previous edition,
  • Priya S. Kishnani (174 papers) published 19 papers at the last edition, 4 more than at the previous edition,
  • Derralynn Hughes (123 papers) published 8 papers at the last edition, 8 less than at the previous edition,
  • Elsa Shapiro (121 papers) published 4 papers at the last edition, 2 more than at the previous 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 and Metabolism (based on the number of publications) are:

  • Boston Children's Hospital (658 papers) published 30 papers at the last edition, 5 less than at the previous edition,
  • University of Minnesota (405 papers) published 11 papers at the last edition, 3 more than at the previous edition,
  • National Institutes of Health (321 papers) published 8 papers at the last edition, 8 less than at the previous edition,
  • Genzyme (219 papers) published 2 papers at the last edition, 7 less than at the previous edition,
  • Duke University (211 papers) published 9 papers at the last edition, 2 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, 86.77% of publications had an unrecognized affiliation. Out of the publications with recognized affiliations, 50.00% were posted by at least one author from the top 10 institutions publishing in the journal. Another 12.30% included authors affiliated with research institutions from the top 11-20 affiliations. Institutions from the 21-50 range included 13.11% of all publications and 24.59% 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

  • Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.

    Kevin A. Strauss;Kevin A. Strauss;Kevin A. Strauss;Vincent J. Carson;Kyle Soltys;Millie E. Young

    (2020)
    108 Citations
  • Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study.

    Ulla Feldt-Rasmussen;Derralynn Hughes;Gere Sunder-Plassmann;Suma Shankar

    (2020)
    58 Citations
  • The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

    (2022)
    56 Citations
  • Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial

    Christine í Dali;Caroline Sevin;Ingeborg Krägeloh-Mann;Roberto Giugliani

    (2020)
    51 Citations
  • Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders

    Susan Hiatt;James Lawlor;Lori Handley;Ryne Ramaker

    (2021)
    42 Citations
  • Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome

    Sarah Sheppard;Ian Campbell;Margaret Harr;Nina Gold

    (2021)
    42 Citations
  • Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.

    (2022)
    39 Citations
  • Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.

    Nastassja Himmelreich;Nenad Blau;Beat Thöny

    (2021)
    38 Citations

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Best Scientists Contributing to This Journal

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