Evidence map›Paper›PMID 37968388›Full record

ArticleNature2023

Single-cell, whole-embryo phenotyping of mammalian developmental disorders.

Xingfan Huang, Jana Henck, Chengxiang Qiu, Varun K A Sreenivasan, Saranya Balachandran, Oana V Amarie, Martin Hrabě de Angelis, Rose Yinghan Behncke, Wing-Lee Chan, Alexandra Despang and 31 more

Open access · hybridAbstract read
In one paragraph

Article in Nature, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 1 pooled it
4.9field-weighted citation impact, top 4% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

23 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. LIGER2: Scalable Single-Cell Integration with On-Disk Datasets.bioRxiv : the preprint server for biology · 2026
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Disrupted developmental signaling induces novel transcriptional states.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. A fascination with tailless mice: a scientific historical review of studies of the T/t complex.Mammalian genome : official journal of the International Mammalian Genome Society · 2025
    Review
  16. Article
  17. Reconstructing human-specific regulatory functions in model systems.Current opinion in genetics & development · 2024
    Review
  18. Review
  19. Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

41 authors at 13 institutions in 2 countries.

Xingfan Huang *Department of Genome Sciences, University of Washington, Seattle, WA, USA.
Jana Henck *Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.
Chengxiang Qiu *Department of Genome Sciences, University of Washington, Seattle, WA, USA.ORCID 0000-0002-6346-8669
Varun K A SreenivasanInstitute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.ORCID 0000-0002-8667-8394
Saranya BalachandranInstitute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.
Oana V AmarieInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany.ORCID 0000-0003-1705-6812
Martin Hrabě de AngelisInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany.ORCID 0000-0002-7898-2353
Rose Yinghan BehnckeInstitute of Medical Genetics and Human Genetics of the Charité, Berlin, Germany.ORCID 0009-0005-8503-3411
Wing-Lee ChanInstitute of Medical Genetics and Human Genetics of the Charité, Berlin, Germany.
Alexandra DespangMax Planck Institute for Molecular Genetics, Berlin, Germany.
Diane E DickelLawrence Berkeley National Laboratory, Berkeley, CA, USA.ORCID 0000-0001-5497-6824
Madeleine DuranDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.ORCID 0000-0003-1648-2369
Annette FeuchtingerCore Facility Pathology & Tissue Analytics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany.
Helmut FuchsInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany.ORCID 0000-0002-5143-2677
Valerie Gailus-DurnerInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany.ORCID 0000-0002-6076-0111
Natja HaagInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Rene HägerlingMax Planck Institute for Molecular Genetics, Berlin, Germany.
Nils HansmeierMax Planck Institute for Molecular Genetics, Berlin, Germany.ORCID 0000-0001-7024-5351
Friederike HennigMax Planck Institute for Molecular Genetics, Berlin, Germany.
Cooper MarshallDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
Sudha RajderkarLawrence Berkeley National Laboratory, Berkeley, CA, USA.ORCID 0000-0003-2001-3450
Alessa RingelMax Planck Institute for Molecular Genetics, Berlin, Germany.
Michael RobsonMax Planck Institute for Molecular Genetics, Berlin, Germany.ORCID 0000-0003-1126-3538
Lauren M SaundersDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.ORCID 0000-0003-4377-4252
Patricia da Silva-ButtkusInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany.
Nadine SpielmannInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany.
Sanjay R SrivatsanDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
Sascha UlfertsInstitute of Medical Genetics and Human Genetics of the Charité, Berlin, Germany.
Lars WittlerMax Planck Institute for Molecular Genetics, Berlin, Germany.
Yiwen ZhuGerman Center for Diabetes Research (DZD), Neuherberg, Germany.ORCID 0000-0002-2282-1913
Vera M KalscheuerMax Planck Institute for Molecular Genetics, Berlin, Germany.ORCID 0000-0001-6898-3259
Daniel M IbrahimMax Planck Institute for Molecular Genetics, Berlin, Germany.ORCID 0000-0002-0019-3354
Ingo KurthInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.ORCID 0000-0002-5642-8378
Uwe KornakInstitute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.ORCID 0000-0002-4582-9838
Axel ViselLawrence Berkeley National Laboratory, Berkeley, CA, USA.ORCID 0000-0002-4130-7784
Len A PennacchioLawrence Berkeley National Laboratory, Berkeley, CA, USA.ORCID 0000-0002-8748-3732
David R BeierBrotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.
Cole TrapnellDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.ORCID 0000-0002-8105-4347
Junyue CaoLaboratory of Single-Cell Genomics and Population Dynamics, The Rockefeller University, New York, NY, USA. jcao@rockefeller.edu.ORCID 0000-0003-4097-489X
Jay ShendureDepartment of Genome Sciences, University of Washington, Seattle, WA, USA. shendure@uw.edu.ORCID 0000-0002-1516-1865
Malte SpielmannInstitute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany. malte.spielmann@uksh.de.ORCID 0000-0002-0583-4683
Berlin Institute of Health at Charité - Universitätsmedizin Berlin · DEHelmholtz Zentrum München · DEUniversity of Washington · USMax Planck Institute for Molecular Genetics · DELawrence Berkeley National Laboratory · USChristian-Albrechts-Universität zu Kiel · DERWTH Aachen University · DEDeutsches Diabetes-Zentrum e.V. · DEHoward Hughes Medical Institute · USRockefeller University · USSeattle Children's Hospital · USUniversitätsmedizin Göttingen · DEUniversity Hospital Schleswig-Holstein · DE

Funding

Generation of an In Vivo Human Genome Transcriptional Enhancer DatasetR01HG003988 · NHGRI · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI Len Alexander Pennacchio · 2006 to 2026
$24.1M
Center for Integrated Cellular Analysis - Valeria A. Sanchez EstradaRM1HG011014 · NHGRI · NEW YORK GENOME CENTER · PI LANDAU, DAN, SATIJA, RAHUL · 2020 to 2025
$22.1M
Mutagenesis and Murine Embyonic DevelopmentR01HD036404 · NICHD · SEATTLE CHILDREN'S HOSPITAL · PI BEIER, DAVID R. · 1998 to 2020
$8.1M
In Vivo Characterization of Major ENCODE-Predicted Classes of Noncoding ElementsUM1HG009421 · NHGRI · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI PENNACCHIO, LEN ALEXANDER, VISEL, AXEL · 2017 to 2021
$6.8M
Versatile, exponentially scalable methods for single cell molecular profilingR01HG010632 · NHGRI · UNIVERSITY OF WASHINGTON · PI Jay Ashok Shendure, Bruce Colston Trapnell · 2019 to 2026
$5.9M
A Single-Cell Resolution Enhancer Atlas of Craniofacial DevelopmentR01DE028599 · NIDCR · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI VISEL, AXEL · 2019 to 2023
$4.2M
Evaluating the Impact of Mutations in Distant-Acting Enhancers in Structural Birth DefectsR01HD114353 · NICHD · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI Len Alexander Pennacchio, Axel Visel · 2023 to 2026
$3.3M
Single cell dynamics on a whole organism scaleDP2HG012522 · NHGRI · ROCKEFELLER UNIVERSITY · PI CAO, JUNYUE · 2021 to 2024
$2.5M
NHGRI NIH HHS DP2 HG012522NHGRI NIH HHS R01 HG003988NHGRI NIH HHS R01 HG010632NHGRI NIH HHS RM1 HG011014NHGRI NIH HHS UM1 HG009421NICHD NIH HHS R01 HD036404NICHD NIH HHS R01 HD114353NIDCR NIH HHS R01 DE028599
6 · The paper itself

Abstract

Mouse models are a critical tool for studying human diseases, particularly developmental disorders

Indexed as

Developmental DisabilitiesEmbryo, MammalianMutationPhenotypeSingle-Cell Gene Expression AnalysisAnimalsCell NucleusDisease Models, AnimalGain of Function MutationGenotypeLoss of Function MutationMiceModels, Genetic

Identifiers

PMID37968388
PMCPMC10665194
OpenAlexW4388694331

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.