# Topics and Trends in Most Cited Metabolism and Genetic Disorders Papers, Class of 2026

*Canonical URL: https://pri.pepkio.com/top-papers/metabolism-and-genetic-disorders/2026*

## 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.

## At a glance

| Fact | Value |
| --- | --- |
| 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

| Rank | Title | Authors | Corresponding authors | Affiliation | Journal | 18m citations | DOI |
| ---: | --- | --- | --- | --- | --- | ---: | --- |
| 1 | Cellular ATP demand creates metabolically distinct subpopulations of mitochondria | Keun Woo Ryu, Tak Shun Fung, Daphne C Baker, Michelle Saoi, Jinsung Park, Christopher A Febres-Aldana, Rania G Aly, Ruobing Cui, Anurag Sharma, Yi Fu, Olivia L Jones, Xin Cai, H Amalia Pasolli, Justin R Cross, Charles M Rudin, Craig B Thompson | Craig B. Thompson | Memorial Sloan Kettering Cancer Center, United States | Nature | 221 | 10.1038/s41586-024-08146-w |
| 2 | The underappreciated diversity of bile acid modifications | Ipsita Mohanty, Helena Mannochio-Russo, Joshua V Schweer, Yasin El Abiead, Wout Bittremieux, Shipei Xing, Robin Schmid, Simone Zuffa, Felipe Vasquez, Valentina B Muti, Jasmine Zemlin, Omar E Tovar-Herrera, Sarah Moraïs, Dhimant Desai, Shantu Amin, Imhoi Koo, Christoph W Turck, Itzhak Mizrahi, Penny M Kris-Etherton, Kristina S Petersen, Jennifer A Fleming, Tao Huan, Andrew D Patterson, Dionicio Siegel, Lee R Hagey, Mingxun Wang, Allegra T Aron, Pieter C Dorrestein | Pieter C. Dorrestein | University of California, San Diego, United States | Cell | 118 | 10.1016/j.cell.2024.02.019 |
| 3 | Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions | Alban Ziegler, Carrie Koval-Burt, Denise M Kay, Sharon F Suchy, Amber Begtrup, Katherine G Langley, Rebecca Hernan, Laura M Amendola, Brenna M Boyd, Jennifer Bradley, Tracy Brandt, Lilian L Cohen, Alison J Coffey, Joseph M Devaney, Beata Dygulska, Bethany Friedman, Ramsay L Fuleihan, Awura Gyimah, Sihoun Hahn, Sean Hofherr, Kathleen S Hruska, Zhanzhi Hu, Médéric Jeanne, Guanjun Jin, D Aaron Johnson, Haluk Kavus, Rudolph L Leibel, Steven J Lobritto, Stephen McGee, Joshua D Milner, Kirsty McWalter, Kristin G Monaghan, Jordan S Orange, Nicole Pimentel Soler, Yeyson Quevedo, Samantha Ratner, Kyle Retterer, Ankur Shah, Natasha Shapiro, Robert J Sicko, Eric S Silver, Samuel Strom, Rebecca I Torene, Olatundun Williams, Vincent D Ustach, Julia Wynn, Ryan J Taft, Paul Kruszka, Michele Caggana, Wendy K Chung | Wendy K. Chung | Columbia University Irving Medical Center, United States | JAMA | 89 | 10.1001/jama.2024.19662 |
| 4 | Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia | Dwight Koeberl, Andreas Schulze, Neal Sondheimer, Gerald S Lipshutz, Tarekegn Geberhiwot, Lerong Li, Rajnish Saini, Junxiang Luo, Vanja Sikirica, Ling Jin, Min Liang, Mary Leuchars, Stephanie Grunewald | Stephanie Grünewald | Duke University, United States | Nature | 77 | 10.1038/s41586-024-07266-7 |
| 5 | Infant microbes and metabolites point to childhood neurodevelopmental disorders | Angelica P Ahrens, Tuulia Hyötyläinen, Joseph R Petrone, Kajsa Igelström, Christian D George, Timothy J Garrett, Matej Orešič, Eric W Triplett, Johnny Ludvigsson | Eric W. Triplett | University of Florida, United States | Cell | 68 | 10.1016/j.cell.2024.02.035 |
| 6 | MTFP1 controls mitochondrial fusion to regulate inner membrane quality control and maintain mtDNA levels | Luis Carlos Tábara, Stephen P Burr, Michele Frison, Suvagata R Chowdhury, Vincent Paupe, Yu Nie, Mark Johnson, Jara Villar-Azpillaga, Filipa Viegas, Mayuko Segawa, Hanish Anand, Kasparas Petkevicius, Patrick F Chinnery, Julien Prudent | Luis Carlos Tábara, Julien Prudent | University of Cambridge, United Kingdom | Cell | 66 | 10.1016/j.cell.2024.05.017 |
| 7 | Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy | Florian Eichler, Christine N Duncan, Patricia L Musolino, Troy C Lund, Ashish O Gupta, Satiro De Oliveira, Adrian J Thrasher, Patrick Aubourg, Jörn-Sven Kühl, Daniel J Loes, Hernan Amartino, Nicholas Smith, Juliana Folloni Fernandes, Caroline Sevin, Raman Sankar, Shaun A Hussain, Paul Gissen, Jean-Hugues Dalle, Uwe Platzbecker, Gerald F Downey, Elizabeth McNeil, Laura Demopoulos, Andrew C Dietz, Himal L Thakar, Paul J Orchard, David A Williams | Florian Eichler | Massachusetts General Hospital, United States | New England Journal of Medicine | 64 | 10.1056/nejmoa2400442 |
| 8 | Motion of VAPB molecules reveals ER–mitochondria contact site subdomains | Christopher J Obara, Jonathon Nixon-Abell, Andrew S Moore, Federica Riccio, David P Hoffman, Gleb Shtengel, C Shan Xu, Kathy Schaefer, H Amalia Pasolli, Jean-Baptiste Masson, Harald F Hess, Christopher P Calderon, Craig Blackstone, Jennifer Lippincott-Schwartz | Christopher J. Obara, Jennifer Lippincott‐Schwartz | Janelia Research Campus, United States | Nature | 54 | 10.1038/s41586-023-06956-y |
| 9 | Exploring the vitamin biosynthesis landscape of the human gut microbiota | Chiara Tarracchini, Gabriele Andrea Lugli, Leonardo Mancabelli, Douwe van Sinderen, Francesca Turroni, Marco Ventura, Christian Milani | Marco Ventura, Christian Milani | University of Parma, Italy | mSystems | 49 | 10.1128/msystems.00929-24 |
| 10 | Pyrimidines maintain mitochondrial pyruvate oxidation to support de novo lipogenesis | Umakant Sahu, Elodie Villa, Colleen R Reczek, Zibo Zhao, Brendan P O'Hara, Michael D Torno, Rohan Mishra, William D Shannon, John M Asara, Peng Gao, Ali Shilatifard, Navdeep S Chandel, Issam Ben-Sahra | Umakant Sahu, Elodie Villa, Issam Ben‐Sahra | Northwestern University, United States | Science | 45 | 10.1126/science.adh2771 |
| 11 | Mitochondria transfer-based therapies reduce the morbidity and mortality of Leigh syndrome | Ritsuko Nakai, Stella Varnum, Rachael L Field, Henyun Shi, Rocky Giwa, Wentong Jia, Samantha J Krysa, Eva F Cohen, Nicholas Borcherding, Russell P Saneto, Rick C Tsai, Masashi Suganuma, Hisashi Ohta, Takafumi Yokota, Jonathan R Brestoff | Takafumi Yokota | Osaka University, Japan | Nature Metabolism | 42 | 10.1038/s42255-024-01125-5 |
| 12 | <i>APOE3</i> Christchurch Heterozygosity and Autosomal Dominant Alzheimer’s Disease | Yakeel T Quiroz, David Aguillon, Daniel C Aguirre-Acevedo, Daniel Vasquez, Yesica Zuluaga, Ana Y Baena, Lucia Madrigal, Liliana Hincapié, Justin S Sanchez, Stephanie Langella, Rafael Posada-Duque, Jessica L Littau, Nelson D Villalba-Moreno, Clara Vila-Castelar, Liliana Ramirez Gomez, Gloria Garcia, Elizabeth Kaplan, Sofia Rassi Vargas, J Alejandro Ossa, Pablo Valderrama-Carmona, Paula Perez-Corredor, Susanne Krasemann, Markus Glatzel, Kenneth S Kosik, Keith Johnson, Reisa A Sperling, Eric M Reiman, Diego Sepulveda-Falla, Francisco Lopera, Joseph F Arboleda-Velasquez | Yakeel T Quiroz | Massachusetts General Hospital, United States | New England Journal of Medicine | 41 | 10.1056/nejmoa2308583 |
| 13 | The hidden impact of in-source fragmentation in metabolic and chemical mass spectrometry data interpretation | Martin Giera, Aries Aisporna, Winnie Uritboonthai, Gary Siuzdak | Martin Giera, Gary Siuzdak | Leiden University Medical Center, Netherlands | Nature Metabolism | 37 | 10.1038/s42255-024-01076-x |
| 14 | Carnitine palmitoyltransferase 1 facilitates fatty acid oxidation in a non-cell-autonomous manner | Joseph Choi, Danielle M Smith, Susanna Scafidi, Ryan C Riddle, Michael J Wolfgang | Joseph Choi | The Johns Hopkins University, United States | Cell Reports | 36 | 10.1016/j.celrep.2024.115006 |
| 15 | Ketogenic diet-produced β-hydroxybutyric acid accumulates brain GABA and increases GABA/glutamate ratio to inhibit epilepsy | Ya-Nan Qiao, Lei Li, Song-Hua Hu, Yuan-Xin Yang, Zhen-Zhen Ma, Lin Huang, Yan-Peng An, Yi-Yuan Yuan, Yan Lin, Wei Xu, Yao Li, Peng-Cheng Lin, Jing Cao, Jian-Yuan Zhao, Shi-Min Zhao | Shimin Zhao | The Obstetrics & Gynaecology Hospital of Fudan University, China | Cell Discovery | 35 | 10.1038/s41421-023-00636-x |
| 16 | Gene selection for genomic newborn screening: Moving toward consensus? | Lilian Downie, Sophie E Bouffler, David J Amor, John Christodoulou, Alison Yeung, Ari E Horton, Ivan Macciocca, Alison D Archibald, Meghan Wall, Jade Caruana, Sebastian Lunke, Zornitza Stark | Zornitza Stark | Murdoch Children's Research Institute, Australia | Genetics in Medicine | 33 | 10.1016/j.gim.2024.101077 |
| 17 | Hierarchical tricarboxylic acid cycle regulation by hepatocyte arginase 2 links the urea cycle to oxidative metabolism | Yiming Zhang, Cassandra B Higgins, Stefani Tica, Joshua A Adams, Jiameng Sun, Shannon C Kelly, Xiaoyu Zong, Dennis J Dietzen, Terri Pietka, Samuel J Ballentine, Leah P Shriver, Gary J Patti, Yin Cao, Brian J DeBosch | Brian J. DeBosch | Washington University School of Medicine, United States | Cell Metabolism | 32 | 10.1016/j.cmet.2024.07.007 |
| 18 | Hexokinase 1 forms rings that regulate mitochondrial fission during energy stress | Johannes Pilic, Benjamin Gottschalk, Benjamin Bourgeois, Hansjörg Habisch, Zhanat Koshenov, Furkan E Oflaz, Yusuf C Erdogan, Seyed M Miri, Esra N Yiğit, Mehmet Ş Aydın, Gürkan Öztürk, Emrah Eroglu, Varda Shoshan-Barmatz, Tobias Madl, Wolfgang F Graier, Roland Malli | Roland Malli | Medical University of Graz, Austria | Molecular Cell | 31 | 10.1016/j.molcel.2024.06.009 |
| 19 | Ketogenic β‐hydroxybutyrate regulates β‐hydroxybutyrylation of <scp>TCA</scp> cycle‐associated enzymes and attenuates disease‐associated pathologies in Alzheimer's mice | Wanhong Han, Bingchang Zhang, Wenpeng Zhao, Wentao Zhao, Jiawei He, Xiansheng Qiu, Liang Zhang, Xiuyan Wang, Yong Wang, Hanwen Lu, Yaya Zhang, Yuanyuan Xie, Yanyan Geng, Wujie Zhao, Qionghui Huang, Yun-Wu Zhang, Zhanxiang Wang | Yaya Zhang, Yun‐wu Zhang, Zhanxiang Wang | Xiamen University, China | Aging Cell | 31 | 10.1111/acel.14368 |
| 20 | A spatial map of hepatic mitochondria uncovers functional heterogeneity shaped by nutrient-sensing signaling | Sun Woo Sophie Kang, Rory P Cunningham, Colin B Miller, Lauryn A Brown, Constance M Cultraro, Adam Harned, Kedar Narayan, Jonathan Hernandez, Lisa M Jenkins, Alexei Lobanov, Maggie Cam, Natalie Porat-Shliom | Natalie Porat‐Shliom | National Cancer Institute, United States | Nature Communications | 30 | 10.1038/s41467-024-45751-9 |

## Topic trends

### 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*

### 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*

## 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.

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
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