ArticleNature medicine2020
The role of exome sequencing in newborn screening for inborn errors of metabolism.
Abstract read
In one paragraph
Article in Nature medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 136 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
136citing papers in PubMed, 3 pooled it
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
136 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD).Journal of inherited metabolic disease · 2026Guideline
- Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.Health technology assessment (Winchester, England) · 2025Pooled it
- Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.Orphanet journal of rare diseases · 2023Pooled it
- Neonatal genetic sequencing as a first-tier option: a real-world clinical implementation study in Northern China.Annals of medicine · 2026Article
- The new frontier of newborn screening: integrating genomics, metabolomics, and data science for inborn errors of metabolism.Orphanet journal of rare diseases · 2026Review
- Second-Tier Whole Exome Sequencing Following Abnormal Newborn Screening: Diagnostic Yield, Secondary Findings, and Carrier Burden in a Taiwanese Neonatal Cohort.Children (Basel, Switzerland) · 2026Article
- Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.Metabolomics : Official journal of the Metabolomic Society · 2026Review
- Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening.Diagnostics (Basel, Switzerland) · 2026Review
- Advancements and insights into newborn screening with tandem mass spectrometry in China: a comprehensive descriptive analysis (2017-2021).BMJ paediatrics open · 2026Article
- A Novel Multimodal LC-MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF.Journal of inherited metabolic disease · 2026Article
- No association between genetic ancestry and exome sequencing-based diagnosis of inborn errors of metabolism.NPJ genomic medicine · 2026Article
- Semi-automated genomic newborn screening highlights complexities in reporting.NPJ genomic medicine · 2026Article
- Identification of a novel ACADSB variant for the presymptomatic diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency through newborn screening in Iran.Orphanet journal of rare diseases · 2026Article
- Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and Phenotypes.Human mutation · 2026Article
- Article
- Editorial: Newborn screening for inborn errors of metabolism volume II.Frontiers in pediatrics · 2026Article
- Avoidable under-5 mortality from congenital and genetic disorders: a frontier analysis of GBD 2023 identifying intervention targets.Frontiers in public health · 2026Article
- Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.Genome medicine · 2025Article
- Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.International journal of molecular sciences · 2025Observational
- Residual allelic activity likely underlies the low rates of disease expression for predicted loss-of-function variants in population-scale biobanks.American journal of human genetics · 2025Article
76 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
24 authors.
Aashish N AdhikariDepartment of Plant and Microbial Biology, University of California Berkeley, Berkeley, CA, USA. anadhikari@berkeley.edu.ORCID http://orcid.org/0000-0003-4305-9494
Renata C GallagherInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0003-1611-0354
Yaqiong WangDepartment of Plant and Microbial Biology, University of California Berkeley, Berkeley, CA, USA.ORCID http://orcid.org/0000-0002-1447-7868
Robert J CurrierDepartment of Pediatrics, University of California San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0001-9168-5604
George AmatuniDepartment of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
Laia BassaganyasInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0002-4575-0214
Flavia ChenInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0003-3908-2720
Kunal KunduDepartment of Plant and Microbial Biology, University of California Berkeley, Berkeley, CA, USA.
Mark KvaleInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Sean D MooneyDepartment of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA, USA.
Robert L NussbaumInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Savanna S RandiDepartment of Molecular, Cellular and Developmental Biology, Center for the Molecular Biology of RNA, UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
Jeremy SanfordDepartment of Molecular, Cellular and Developmental Biology, Center for the Molecular Biology of RNA, UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
Joseph T ShiehInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Rajgopal SrinivasanInnovation Labs, Tata Consultancy Services, Hyderabad, India.
Uma SunderamInnovation Labs, Tata Consultancy Services, Hyderabad, India.
Hao TangGenetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA.
Dedeepya VakaInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Yangyun ZouDepartment of Plant and Microbial Biology, University of California Berkeley, Berkeley, CA, USA.
Barbara A KoenigInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0003-3227-6768
Pui-Yan KwokInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0002-5087-3059
Neil RischInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Jennifer M Puck *Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. jennifer.puck@ucsf.edu.ORCID http://orcid.org/0000-0001-6623-6276
Steven E Brenner *Department of Plant and Microbial Biology, University of California Berkeley, Berkeley, CA, USA. brenner@compbio.berkeley.edu.ORCID http://orcid.org/0000-0001-7559-6185
Funding
Sequencing of Newborn Blood Spot DNA to Improve and Expand Newborn ScreeningU19HD077627 · NICHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KOENIG, BARBARA A., KWOK, PUI-YAN · 2013 to 2018
$6.6MRegulation of mRNA FateR35GM130361 · NIGMS · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI Jeremy Robert Sanford · 2019 to 2026
$3.1MNICHD NIH HHS U19 HD077627NIGMS NIH HHS R35 GM130361
Abstract
Public health newborn screening (NBS) programs provide population-scale ascertainment of rare, treatable conditions that require urgent intervention. Tandem mass spectrometry (MS/MS) is currently used to screen newborns for a panel of rare inborn errors of metabolism (IEMs)
Indexed as
ExomeExome SequencingGenetic TestingHumansInfant, NewbornMetabolism, Inborn ErrorsNeonatal ScreeningTandem Mass Spectrometry
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.