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Molecular Genetics and Metabolism Reports
H-index 17

Molecular Genetics and Metabolism Reports

Ranking & Metrics

Discipline name Position Best Scientists Publications D-Index
Genetics 72 45 52 13
Molecular Biology 177 7 7 3

Additional Metrics

Number of Best Scientists*: 197
Documents by Best Scientists*: 190
Top 100 Ranked Scientists*: 3
SCIMAGO H-index: 34
SCIMAGO SJR: 0.685
Impact Factor: 1.9

Overview

Top Research Topics at Molecular genetics and metabolism reports?

Molecular genetics and metabolism reports explores disciplines such as Internal medicine, Endocrinology, Pediatrics, Genetics and Disease. The studies on Internal medicine discussed can also contribute to research in the domains of Gastroenterology and Cardiology. Newborn screening is a key component of Pediatrics research discussed in Molecular genetics and metabolism reports.

Gene, Mutation, Phenotype, Mutation (genetic algorithm) and Exome sequencing are all aspects of Genetics discussed in it. It dives deep in exploring the relationship between the study of Gene and Molecular biology. Missense mutation is a major topic of Mutation research.

It facilitates discussions on Enzyme replacement therapy that incorporate concepts from other fields like Mucopolysaccharidosis, Fabry disease and Surgery.

  • Internal medicine (34.16%)
  • Endocrinology (17.51%)
  • Pediatrics (17.26%)

What are the most cited papers published in the journal?

  • The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts. (78 citations)
  • Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis. (71 citations)
  • Phenylketonuria (PKU): A problem solved? (47 citations)

Research areas of the most cited articles at Molecular genetics and metabolism reports:

The main points discussed in the most cited articles deal with Internal medicine, Pediatrics, Endocrinology, Enzyme replacement therapy and Disease. Mutation, Gastroenterology and Genotype are some topics wherein Internal medicine research discussed in the journal papers has an impact. The journal papers with studies in Endocrinology featured incorporate elements of Cerebrospinal fluid and Enzyme.

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

  • Internal medicine
  • Gene
  • Enzyme

The previous edition focused in particular on these issues:

The aim of the journal is to expand the discussion of research in Internal medicine, Pediatrics, Disease, Endocrinology and Gastroenterology. In addition to Internal medicine research, Molecular genetics and metabolism reports aims to explore topics under Diabetes mellitus and Newborn screening. The close relationship between Exome sequencing and Glycosylation is one of the points of interest dissected in Pediatrics research.

Molecular genetics and metabolism reports focuses on Disease but the discussions also offer insight into other areas such as Early onset and Cohort. While Endocrinology is the focus of it, it also provided insights into the studies of Amino acid, Valine and Arginase. The presented Enzyme replacement therapy research focuses mostly on Fabry disease and, on occasion, topics in Renal function.

The most cited articles from the last journal are:

  • Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population. (3 citations)
  • Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database. (2 citations)
  • SLC35A2-CDG: Novel variant and review. (2 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 Molecular genetics and metabolism reports (based on the number of publications) are:

  • Josef Finsterer (48 papers) absent at the last edition,
  • Sinda Zarrouk-Mahjoub (19 papers) absent at the last edition,
  • Anita MacDonald (18 papers) published 1 paper at the last edition,
  • Roberto Giugliani (16 papers) published 4 papers at the last edition,
  • Priya S. Kishnani (15 papers) published 2 papers at the last edition, 1 less 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 reports (based on the number of publications) are:

  • Boston Children's Hospital (95 papers) published 21 papers at the last edition, 2 less than at the previous edition,
  • Universidade Federal do Rio Grande do Sul (28 papers) published 2 papers at the last edition, 2 less than at the previous edition,
  • Duke University (24 papers) published 2 papers at the last edition, 4 less than at the previous edition,
  • Baylor College of Medicine (23 papers) published 2 papers at the last edition the same number as at the previous edition,
  • University of Minnesota (22 papers) published 3 papers at the last edition, 3 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, 8.62% of publications had an unrecognized affiliation. Out of the publications with recognized affiliations, 30.19% were posted by at least one author from the top 10 institutions publishing in the journal. Another 12.26% included authors affiliated with research institutions from the top 11-20 affiliations. Institutions from the 21-50 range included 16.04% of all publications and 41.51% 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

  • Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences.

    Yin Hsiu Chien;Wen Hui Tsai;Chaw Liang Chang;Pao Chin Chiu

    (2020)
    39 Citations
  • Newborn screening for Pompe disease in Italy: Long-term results and future challenges

    (2022)
    38 Citations
  • A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options

    (2022)
    34 Citations
  • Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS

    Molly Stapleton;Molly Stapleton;Francyne Kubaski;Robert W. Mason;Robert W. Mason;Haruo Shintaku

    (2020)
    31 Citations
  • Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.

    A. Maguolo;G. Rodella;A. Dianin;R. Nurti

    (2020)
    22 Citations
  • SLC35A2-CDG: Novel variant and review.

    Dulce Quelhas;Joana Correia;Jaak Jaeken;Luísa Azevedo

    (2021)
    22 Citations
  • Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

    (2022)
    18 Citations
  • Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female.

    Maria Rosaria Barillari;Marianthi Karali;Valentina Di Iorio;Maria Contaldo

    (2020)
    16 Citations
  • Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)

    Nina Lenherr;John Christodoulou;John Duley;Doreen Dobritzsch

    (2021)
    15 Citations
  • Valine metabolites analysis in ECHS1 deficiency

    Mari Kuwajima;Karin Kojima;Hitoshi Osaka;Yusuke Hamada

    (2021)
    15 Citations

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Best Scientists Contributing to This Journal