ArticleNature2019
Noncoding deletions reveal a gene that is critical for intestinal function.
Open access · greenAbstract read
In one paragraph
Article in Nature, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed
1.7field-weighted citation impact, top 15% of its field
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
29 citing papers in PubMed, 39 citations in OpenAlex.
- Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.Genome biology · 2020Trial
- Congenital diarrhea/enteropathy due to a novel biallelic PERCC1 variant - a case-based review and variant analysis.Journal of human genetics · 2026Review
- Article
- PERCC1-associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide.JPGN reports · 2026Article
- Helixer: ab initio prediction of primary eukaryotic gene models combining deep learning and a hidden Markov model.Nature methods · 2026Article
- Article
- High-quality peptide evidence for annotating non-canonical open reading frames as human proteins.bioRxiv : the preprint server for biology · 2025Article
- Diversity and consequences of structural variation in the human genome.Nature reviews. Genetics · 2025Review
- Paediatric Congenital Enteropathies: Clinical and Histological Review.Diagnostics (Basel, Switzerland) · 2025Review
- The Genetic Architecture of Congenital Diarrhea and Enteropathy.The New England journal of medicine · 2025Article
- PERCC1 -Related Congenital Enteropathy.Clinical genetics · 2025Article
- Functional associations of evolutionarily recent human genes exhibit sensitivity to the 3D genome landscape and disease.bioRxiv : the preprint server for biology · 2024Article
- A 37-kb Deletion in Region 16p13.3 in an Infant with Osteopetrosis and Congenital Diarrhea Including the CLCN7 and PERCC1 Genes.Molecular syndromology · 2024Article
- Cellular and molecular basis of proximal small intestine disorders.Nature reviews. Gastroenterology & hepatology · 2024Review
- Congenital Diarrhoeas and Enteropathies.Nutrients · 2024Review
- Advances in computational and experimental approaches for deciphering transcriptional regulatory networks: Understanding the roles of cis-regulatory elements is essential, and recent research utilizing MPRAs, STARR-seq, CRISPR-Cas9, and machine learning has yielded valuable insights.BioEssays : news and reviews in molecular, cellular and developmental biology · 2024Review
- Special issue: the genetics of early onset inflammatory bowel disease (IBD) and diarrheal disorders.Human genetics · 2023Article
- Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.Human genetics · 2023Article
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models.American journal of human genetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
43 authors at 15 institutions in 4 countries.
Danit Oz-LeviDepartment of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.
Tsviya OlenderDepartment of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.
Ifat Bar-JosephThe Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel.
Yiwen ZhuDivision of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
Dina Marek-YagelThe Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel.
Iros BarozziDivision of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
Marco OsterwalderDivision of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
Anna AlkelaiInstitute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA.
Elizabeth K RuzzoSemel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.
Yujun HanCenter for Human Genome Variation, Duke University School of Medicine, Durham, NC, USA.
Erica S M VosOncode Institute, Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands.
Haike Reznik-WolfThe Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel.
Corina HartmanThe Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Raanan ShamirThe Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Batia WeissThe Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Rivka ShapiroThe Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Ben Pode-ShakkedThe Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Pavlo TatarskyyDepartment of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.
Roni MilgromDepartment of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.
Michael SchvimerDepartment of Pathology, Sheba Medical Center, Ramat Gan, Israel.
Iris BarshackThe Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Denise M ImaiComparative Pathology Laboratory, University of California Davis, Davis, CA, USA.
Devin Coleman-DerrPlant Gene Expression Center, USDA ARS, Albany, CA, USA.
Diane E DickelDivision of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
Alex S NordDivision of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
Veena AfzalDivision of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
Kelly Lammerts van BuerenCardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.
Ralston M BarnesCardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.
Brian L BlackCardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.
Christopher N MayhewDivision of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Matthew F KuharDivision of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Amy PitstickDivision of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Mehmet TekmanCentre for Nephrology, University College London, London, UK.
Horia C StanescuCentre for Nephrology, University College London, London, UK.
James M WellsDivision of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Robert KletaCentre for Nephrology, University College London, London, UK.
Wouter de LaatOncode Institute, Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands.
David B GoldsteinInstitute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA.
Elon PrasThe Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel.
Axel ViselDivision of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
Doron LancetDepartment of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel. Doron.Lancet@weizmann.ac.il.
Yair AniksterThe Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. Yair.Anikster@sheba.health.gov.il.
Len A PennacchioDivision of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA. LAPennacchio@lbl.gov.
Lawrence Berkeley National Laboratory · USSheba Medical Center · ILTel Aviv University · ILWeizmann Institute of Science · ILCincinnati Children's Hospital Medical Center · USUniversity College London · GBUniversity of California, San Francisco · USColumbia University Irving Medical Center · USJoint Genome Institute · USOncode Institute · NLSchneider Children's Medical Center · ILUniversity of California, Davis · USCenter for Human Genetics · USPlant Gene Expression Center · USUniversity of California, Los Angeles · US
Funding
Stem Cell/Organoid and Genome Editing CoreP30DK078392 · NIDDK · CINCINNATI CHILDRENS HOSP MED CTR · PI Alexander Miethke · 2007 to 2026
$24.4MGeneration of an In Vivo Human Genome Transcriptional Enhancer DatasetR01HG003988 · NHGRI · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI Len Alexander Pennacchio · 2006 to 2026
$24.1MTranscriptional Networks During Cardiac DifferentiationP01HL089707 · NHLBI · J. DAVID GLADSTONE INSTITUTES · PI SRIVASTAVA, DEEPAK · 2008 to 2017
$20.4MProject-3: Modeling EA/TEF in human organoidsP01HD093363 · NICHD · CINCINNATI CHILDRENS HOSP MED CTR · PI Wendy K Chung, Paul scot Kingma · 2017 to 2026
$16.2MCenter for Mammalian Regulatory GenomicsU54HG006997 · NHGRI · LUDWIG INSTITUTE FOR CANCER RES LTD · PI REN, BING · 2012 to 2016
$14.3MProject 3: Control of cardiac transcription by MEF2 and myocardinP01HL146366 · NHLBI · J. DAVID GLADSTONE INSTITUTES · PI SRIVASTAVA, DEEPAK · 2019 to 2023
$13.7MIn 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
$6.8MRegulation of cardiovascular transcriptionR01HL064658 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BLACK, BRIAN L · 2000 to 2019
$5.4MOrganoids as a Model System for Studying Gastrointestinal DiseaseU19AI116491 · NIAID · UNIVERSITY OF CINCINNATI · PI WEISS, ALISON A., WELLS, JAMES M · 2015 to 2019
$4.6MFunctional Elucidation of the Sequence-Encoded Regulatory Activity of Enhancers in Vivo in the BrainR35GM119831 · NIGMS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI Alexander Nord · 2016 to 2026
$3.9MGenome-Wide Resources for Transcriptional Enhancers Active in the Human HeartR24HL123879 · NHLBI · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI PENNACCHIO, LEN ALEXANDER, VISEL, AXEL · 2015 to 2019
$3.9MIdentification and application of regulatory elements for heart regenerationR01HL136182 · NHLBI · DUKE UNIVERSITY · PI BLACK, BRIAN L, POSS, KENNETH D · 2017 to 2020
$3.1MNHGRI NIH HHS R01 HG003988NHGRI NIH HHS U54 HG006997NHGRI NIH HHS UM1 HG009421NHLBI NIH HHS P01 HL089707NHLBI NIH HHS P01 HL146366NHLBI NIH HHS R01 HL064658NHLBI NIH HHS R01 HL136182NHLBI NIH HHS R24 HL123879NIAID NIH HHS U19 AI116491NICHD NIH HHS P01 HD093363NIDDK NIH HHS P30 DK078392NIDDK NIH HHS R01 DK092456NIGMS NIH HHS R35 GM119831
Abstract
Large-scale genome sequencing is poised to provide a substantial increase in the rate of discovery of disease-associated mutations, but the functional interpretation of such mutations remains challenging. Here we show that deletions of a sequence on human chromosome 16 that we term the intestine-critical region (ICR) cause intractable congenital diarrhoea in infants
Indexed as
Gene Expression Regulation, DevelopmentalGenesAnimalsChromosomes, Human, Pair 16DiarrheaDisease Models, AnimalEnhancer Elements, GeneticFemaleGenes, ReporterGenetic LociHumansIntestinesMaleMiceMice, KnockoutMice, Transgenic
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
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.