Topics and Trends in Most Cited Metabolism and Genetic Disorders Papers

Ranked by citations 18 months after publication

Class of 2026 (Papers Published in 2024)

What topics and trends defined most-cited Metabolism and Genetic Disorders research in the Class of 2026?

Metabolism and genetic disorders research in the Class of 2026 is driven by rapid expansion in genomic newborn screening and whole-genome diagnostics for inborn metabolic errors. Concurrently, β-hydroxybutyrate and ketogenic signaling saw a 5-fold surge, highlighting novel epigenetic modifications like Lysine β-hydroxybutyrylation while sub-cellular organelle interaction studies saw relative consolidation.

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Updated July 24, 2026

At a glance

Field
Metabolism and Genetic Disorders
Cohort label
Class of 2026 (2024 publications)
Papers analyzed
6,444
Papers ranked
20
Top topics in ranked papers
β-hydroxybutyrate, genomic newborn screening, ketogenic diet, Lysine β-hydroxybutyrylation, Whole genome sequencing
Publication window
Jan 1, 2024 – Dec 31, 2024
Eligibility
Research articles; reviews excluded
Citation window
18 months post-publication
18m citation range
30–221
Data source
OpenAlex · Retrieved Jul 2026
License
CC BY 4.0

Rankings

20 papers ranked by 18-month citation count

#2 of 6,444
11818m citations

The underappreciated diversity of bile acid modifications

Ipsita Mohanty et al.Cell202410.1016/j.cell.2024.02.019

Pieter C. DorresteinUniversity of California, San Diego, United States

bile acid modificationstandem mass spectrometry (MS/MS)Spectral librarybile-acid-selective ion patternspublic untargeted metabolomics data miningpolyamine bile amidatescarnivore bile acid metabolismmicrobial bile acid metabolismMediterranean dietAmerican dietdiet-induced metabolite changessteroidal lipidshost-microbiome co-metabolismmetabolite discovery from public spectral repositoriesmodification-centric metabolite annotationbile acid diversity
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#3 of 6,444
8918m citations

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

Alban Ziegler et al.JAMA202410.1001/jama.2024.19662

Wendy K. ChungColumbia University Irving Medical Center, United States

Whole genome sequencingNewborn screeningGUARDIAN studyearly-onset genetic conditionsneurodevelopmental disordersseizure-associated disordersDried blood spotscreen-positive ratetargeted gene interpretationracial and ethnic diversitygenomic newborn screeningNew York State Newborn Screening Program156 genetic conditions panel99 neurodevelopmental disorders panelbiomarker detectionprospective observational studyExpanded newborn screeningTreatable monogenic disordersmultisite enrollmentsupplemental genome screening
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#4 of 6,444
7718m citations

Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia

Dwight Koeberl et al.Nature202410.1038/s41586-024-07266-7

Stephanie GrünewaldDuke University, United States

Propionic acidemiamRNA-3927Propionyl-CoA carboxylasedual mRNA therapymetabolic decompensation eventsdose-optimization studyfirst-in-human phase 1/2 trialintravenous mRNA dosingdose escalationdose-limiting toxicitiestreatment-emergent adverse eventsextension studytoxic metabolite accumulationmRNA exposure pharmacokinetics
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#5 of 6,444
6818m citations

Infant microbes and metabolites point to childhood neurodevelopmental disorders

Angelica P Ahrens et al.Cell202410.1016/j.cell.2024.02.035

Eric W. TriplettUniversity of Florida, United States

birth cohort studyneurodevelopmental disorder diagnosiscord serum metabolomecord blood lipidomehuman leukocyte antigen (HLA) genotypeinfant gut microbiotastool metabolomeintellectual disabilityspeech disorderAttention-deficit/hyperactivity disorderautismearly-life infectionantibiotic exposurePrenatal risk factorsearly-life stressimmunodysregulationgastrointestinal problemsmood problemsSwedish population cohortearly-life prediction and intervention
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#6 of 6,444
6618m citations

MTFP1 controls mitochondrial fusion to regulate inner membrane quality control and maintain mtDNA levels

Luis Carlos Tábara et al.Cell202410.1016/j.cell.2024.05.017

Luis Carlos Tábara, Julien PrudentUniversity of Cambridge, United Kingdom

MTFP1mitochondrial fusioninner mitochondrial membraneMitochondrial DNA copy numberIMM quality controlmitochondrial dynamicsdamaged IMM subdomainsperipheral fissionSMEMautophagy-dependent degradationnucleoid recyclingmitochondrial membrane remodelingmtDNA distributionfusion inhibitionmitochondrial segregation
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#7 of 6,444
6418m citations

Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy

Florian Eichler et al.New England Journal of Medicine202410.1056/nejmoa2400442

Florian EichlerMassachusetts General Hospital, United States

cerebral adrenoleukodystrophylentiviral gene therapyeli-celABCD1 genehematopoietic stem cellsmajor functional disabilitiesneurologic function scoremagnetic resonance imagingactive inflammationinsertional oncogenesismyelodysplastic syndromeallogeneic hematopoietic stem-cell transplantationviral vector integrationlong-term follow-upPhase 2-3 trial
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#8 of 6,444
5418m citations

Motion of VAPB molecules reveals ER–mitochondria contact site subdomains

Christopher J Obara, Jonathon Nixon-Abell et al.Nature202410.1038/s41586-023-06956-y

Christopher J. Obara, Jennifer Lippincott‐SchwartzJanelia Research Campus, United States

VAPBER-mitochondria contact sitesOrganelle tetheringsingle-molecule trackingthree-dimensional electron microscopyER membrane curvatureContact site remodellingprotein diffusion landscapeVAPB P56S mutationinterorganelle communicationhigh-speed molecular imagingmembrane interface nanoscale organizationlipid and metabolite exchangeorganelle contact site homeostasismolecular tether dynamicsER morphologyMitochondria-associated membranes
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#9 of 6,444
4918m citations

Exploring the vitamin biosynthesis landscape of the human gut microbiota

Marco Ventura, Christian Milani et al.mSystems202410.1128/msystems.00929-24

Marco Ventura, Christian MilaniUniversity of Parma, Italy

B group vitaminsvitamin K biosynthesisGut microbiotaVitamin biosynthetic pathwaysfolatecobalamingut microbiome metagenomicsmicrobial co-association networksinfant gut microbial communityadult gut microbial communitygeographical origin influence on microbiotaage-associated microbiota variationintestinal commensalsbiosynthetic potential assessment~8000 human gut microbiomesmicrobial community equilibriummicronutrient availability
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#10 of 6,444
4518m citations

Pyrimidines maintain mitochondrial pyruvate oxidation to support de novo lipogenesis

Umakant Sahu, Elodie Villa et al.Science202410.1126/science.adh2771

Umakant Sahu, Elodie Villa, Issam Ben‐SahraNorthwestern University, United States

pyrimidinesmitochondrial pyruvate oxidationde novo lipogenesisPyruvate dehydrogenasePDH activitythiamine pyrophosphateTPP synthesisTPK1Uridine triphosphate (UTP)Tricarboxylic acid cycleThiamineadipocyte differentiationpurine-pyrimidine metabolismmetabolic cofactor regulation
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#13 of 6,444
3718m citations

The hidden impact of in-source fragmentation in metabolic and chemical mass spectrometry data interpretation

Martin Giera et al.Nature Metabolism202410.1038/s42255-024-01076-x

Martin Giera, Gary SiuzdakLeiden University Medical Center, Netherlands

in-source fragmentationmass spectrometry data interpretationmetabolomicsCompound identificationspectral annotation false positivesadduct formationfragment ion misassignmentLiquid chromatography-mass spectrometryuntargeted metabolomics workflowsmolecular network analysisSpectral librarydata quality control in MSisomer differentiationannotation confidence
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#14 of 6,444
3618m citations

Carnitine palmitoyltransferase 1 facilitates fatty acid oxidation in a non-cell-autonomous manner

Joseph Choi et al.Cell Reports202410.1016/j.celrep.2024.115006

Joseph ChoiThe Johns Hopkins University, United States

Carnitine palmitoyltransferase 1carnitine palmitoyltransferase 2 (Cpt2)Cpt1aCpt1bMitochondrial fatty acid oxidationAcylcarnitineslong-chain acylcarnitinesliver-specific knockoutnon-cell-autonomous metabolismPparα-dependent inductionhepatocytesextracellular acylcarnitine utilizationCpt1a/Cpt1b double knockoutnon-esterified fatty acidsisoenzyme compensationintercellular fatty acid metabolism
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#15 of 6,444
3518m citations

Ketogenic diet-produced β-hydroxybutyric acid accumulates brain GABA and increases GABA/glutamate ratio to inhibit epilepsy

Ya-Nan Qiao et al.Cell Discovery202410.1038/s41421-023-00636-x

Shimin ZhaoThe Obstetrics & Gynaecology Hospital of Fudan University, China

ketogenic dietβ-hydroxybutyrateGABA/glutamate ratioHDAC inhibitionH3K27 acetylationSIRT4 upregulationGlutamate decarboxylase 1 (GAD1)Glutamate dehydrogenase de-carbamylationGlutamate dehydrogenase inactivationPentetrazol-induced epilepsy modelRefractory epilepsyNeuron excitation inhibitionketone bodiesAntiepileptic metaboliteBrain GABA accumulationTranscriptional upregulation via histone acetylationGABA synthesis pathwayBHB administrationAnticonvulsant mechanismEpilepsy in mice
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#17 of 6,444
3218m citations

Hierarchical tricarboxylic acid cycle regulation by hepatocyte arginase 2 links the urea cycle to oxidative metabolism

Yiming Zhang et al.Cell Metabolism202410.1016/j.cmet.2024.07.007

Brian J. DeBoschWashington University School of Medicine, United States

Hepatocyte-specific arginase 2 knockoutUrea cycle disorderTCA cycle fluxMetabolic tracingrespirometryOxidative metabolismglutamine anaplerosisdiet-induced obesitynicotinamide adenine dinucleotide (NAD) repletionhepatic lipid derangementglucose homeostasisfibroinflammatory liver diseasebiomarker-based disease predictionurea-TCA cycle crosstalkhierarchical metabolic regulationhepatocyte metabolismmiddle adulthood metabolic declineserum metabolite biomarkerscompensated urea cycle defect
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#18 of 6,444
3118m citations

Hexokinase 1 forms rings that regulate mitochondrial fission during energy stress

Johannes Pilic et al.Molecular Cell202410.1016/j.molcel.2024.06.009

Roland MalliMedical University of Graz, Austria

Hexokinase 1 (HK1)HK1-ringsMitochondrial fissionenergy stress sensingER-mitochondria contact sitesmitochondrial dynamics protein (MiD51)dynamin-related protein 1 (DRP1)mitochondrial fission factor (Mff)mitochondrial fission 1 protein (Fis1)ATP depletionglucose-6-phosphate (G6P)glycolytic enzyme regulationTCA cycle activitymitochondrial constrictionmitochondrial shape regulationmitochondrial connectivityMetabolic reprogrammingring-forming mutations
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#19 of 6,444
3118m citations

Ketogenic β‐hydroxybutyrate regulates β‐hydroxybutyrylation of <scp>TCA</scp> cycle‐associated enzymes and attenuates disease‐associated pathologies in Alzheimer's mice

Wanhong Han et al.Aging Cell202410.1111/acel.14368

Yaya Zhang, Yun‐wu Zhang, Zhanxiang WangXiamen University, China

Lysine β-hydroxybutyrylationβ-hydroxybutyrylation quantitative proteomics4D label-free proteomicsAPP/PS1 miceTCA cycle-associated enzymescitrate synthase (CS)succinate-CoA ligase subunit alpha (SUCLG1)β-hydroxybutyrateketogenic dietATP productionlysine 393 site in CSlysine 81 site in SUCLG1Amyloid pathologyMicroglial activationPost-translational modificationenzymatic activity regulationenergy metabolism in Alzheimer's diseaseβ-hydroxybutyrate brain levelsAlzheimer's disease intervention
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#20 of 6,444
3018m citations

A spatial map of hepatic mitochondria uncovers functional heterogeneity shaped by nutrient-sensing signaling

Sun Woo Sophie Kang et al.Nature Communications202410.1038/s41467-024-45751-9

Natalie Porat‐ShliomNational Cancer Institute, United States

Mitochondrial heterogeneityLiver metabolic zonationintravital microscopyspatial proteomicscomparative phosphoproteomicsmitochondrial morphologybeta-oxidationlipid synthesisnutrient-sensing signalingAMPK signalingmTOR signalingmitochondrial phosphorylationmitochondrial homeostasismitochondrial functional assessmentmitochondrial composition mappingpharmacological modulation of nutrient sensingmitochondrial structure-function regulation
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Dominant research themes and year-over-year shifts in Metabolism and Genetic Disorders

What Topics Define the Class of 2026?

In the Class of 2026, research in metabolism and genetic disorders is defined by a strong convergence between metabolic ketone signaling and precision genomic diagnostics. The most prominent theme centers on β-hydroxybutyrate (10% normalized frequency) and ketone body dynamics, alongside broader investigations into ketogenic diets (8%) and novel post-translational modifications such as Lysine β-hydroxybutyrylation (6%). These findings highlight how ketone metabolites function not merely as energy substrates, but as pivotal epigenetic and signaling regulators in cellular homeostasis and metabolic dysfunction. Concurrently, genomic newborn screening (8%), whole genome sequencing (6%), and traditional newborn screening (6%) form a dominant diagnostic pillar. High-impact literature increasingly focuses on first-tier genomic sequencing for early detection of inborn errors of metabolism, including rare pediatric conditions such as propionic acidemia, phenylketonuria, and urea cycle disorders. Complementing these genomic diagnostic frameworks are analytical tools assessing acylcarnitines and oxidative phosphorylation defects, alongside lipid nanoparticle vectors for targeted metabolic gene therapies. Together, these top themes demonstrate a clinical shift toward early, population-scale genomic screening coupled with mechanistic insights into metabolite-driven epigenetic regulation.

Leading research themes
Leading research themes

How Did Topics Shift from the Class of 2025 to the Class of 2026?

Comparing the Class of 2025 to the Class of 2026 reveals a pronounced paradigm shift toward early-life genomic screening and specialized metabolite-driven epigenetics. The most dramatic rise occurred in genomic newborn screening, which expanded from zero mentions in the 2025 cohort to an 8% normalized frequency in 2026, alongside a 3-fold increase in whole genome sequencing applications (2% to 6%). This shift reflects rapid clinical translation of comprehensive sequencing panels for diagnosing rare inborn errors of metabolism, such as propionic acidemia, early in life. Simultaneously, metabolic signaling research experienced substantial growth. Mentions of β-hydroxybutyrate increased 5-fold (2% to 10%), while ketogenic diet investigations quadrupled (2% to 8%). This surge was accompanied by the emergence of Lysine β-hydroxybutyrylation (6%) and related organelle dynamics like mitochondrial heterogeneity and TCA cycle activity. Conversely, structural sub-cellular topics such as ER-mitochondria contact sites experienced a slight relative decline (6% to 4%), as attention pivoted toward dynamic functional metabolomics, ferroptosis, and lipid nanoparticle-mediated therapeutic delivery. Overall, the trajectory underscores a rapid evolution from broad cellular ultrastructure toward high-resolution genomic screening and metabolite-directed therapeutic targets.

How topics shifted year over year
How topics shifted year over year
Methodology

PRI identifies high-impact research using a transparent, topic-agnostic framework applied consistently across scientific domains. Bibliographic records are drawn from OpenAlex, including publication dates, citation relationships, and document types.

This ranking covers the Class of 2026 cohort: journal articles published in 2024. Reviews and other non-article document types are excluded to ensure comparability.

Research impact is quantified with an 18-month post-publication citation window—the number of citing works published within 18 months of each paper's publication date. This metric captures early impact while controlling for publication age.

An LLM-based relevance classifier then reviews each candidate's title and abstract to confirm substantive alignment with the target domain. Only papers classified as relevant appear in the final ranking.

Zheng Su, Tinsley Li, Thematic Shifts in Early-High-Impact Cancer Genomics and Diagnostics Research: A Bibliometric and Semantic Analysis. bioRxiv 2026.07.04.736459; doi: https://doi.org/10.64898/2026.07.04.736459

Full methodologyGitHubbioRxiv preprint

Cite this ranking

Pepkio Research Index (PRI). Topics and Trends in Most Cited Metabolism and Genetic Disorders Papers, Class of 2026. https://pri.pepkio.com/top-papers/metabolism-and-genetic-disorders/2026. Accessed 2026-07-24.

Methodology
Zheng Su, Tinsley Li, Thematic Shifts in Early-High-Impact Cancer Genomics and Diagnostics Research: A Bibliometric and Semantic Analysis. bioRxiv 2026.07.04.736459; doi: https://doi.org/10.64898/2026.07.04.736459