ArticleBlood2018
Mutations in the
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In one paragraph
Article in Blood, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
54citing papers in PubMed, 3 pooled it
11.2field-weighted citation impact, top 1% 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
54 citing papers in PubMed, 3 syntheses or guidelines pooled it, 120 citations in OpenAlex.
- A Case Report of Shwachman-Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature Review.Molecular genetics & genomic medicine · 2026Pooled it
- Vacuolated Marrow Cytopenias from Copper Deficiency toInternational journal of molecular sciences · 2025Pooled it
- Endoplasmic stress-inducing variants in CPB1 and CPA1 and risk of pancreatic cancer: A case-control study and meta-analysis.International journal of cancer · 2022Pooled it
- GTPase cycle and ER membrane regulate cargo handover during cotranslational protein targeting.Science advances · 2026Article
- Human SRP Subunits Coordinate Protein Targeting and mRNA Quality Control.bioRxiv : the preprint server for biology · 2026Article
- Autism Heterogeneity Related to Preterm Birth: Multi-Ancestry Results From the Simons Foundation Powering Autism Research for Knowledge Sample.Biological psychiatry global open science · 2026Article
- Temporal Regulation of Signal Recognition Particle During Translation.Journal of molecular biology · 2025Article
- Review
- Adult presentation of Shwachman-Diamond syndrome complicated by liver cirrhosis and pancreatic fat infiltration: A case report.World journal of hepatology · 2025Article
- Flavopiridol restores granulopoiesis in experimental models of severe congenital neutropenia.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations.Blood · 2025Article
- Exploring the landscape of congenital and idiopathic neutropenia in Moroccan children: a comprehensive retrospective analysis.Immunologic research · 2025Article
- Exploring the ER channel protein Sec61: recent advances in pathophysiological significance and novel pharmacological inhibitors.Frontiers in pharmacology · 2025Review
- Association of neutrophil defects with oral ulcers but undetermined role of neutrophils in recurrent aphthous stomatitis.Heliyon · 2024Review
- The metabolic basis of inherited neutropenias.British journal of haematology · 2024Review
- Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.Haematologica · 2023Article
- Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.American journal of human genetics · 2023Article
- Review
- Zebrafish: A Relevant Genetic Model for Human Primary Immunodeficiency (PID) Disorders?International journal of molecular sciences · 2023Review
- Article
Corrections and comments
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Authors and funding
38 authors at 17 institutions in 2 countries.
Christine Bellanné-ChantelotDepartment of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne Université, Paris, France.ORCID 0000-0001-8415-6771
Barbara Schmaltz-PanneauINSERM UMR1170 and.
Caroline MartyINSERM UMR1170 and.
Odile FenneteauLaboratory of Hematology, Robert Debré Hospital, AP-HP, Paris, France.
Isabelle CallebautCNRS UMR7590, Sorbonne Universités, Université Pierre et Marie Curie-Paris 6-MNHN-IRD-IUC, Paris, France.
Séverine ClauinDepartment of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne Université, Paris, France.
Aurélie DocetDepartment of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne Université, Paris, France.
Gandhi-Laurent DamajDepartment of Hematology, Centre Hospitalier Universitaire (CHU), Faculté de Médecine, University of Normandie Caen, Caen, France.
Thierry LeblancDepartment of Pediatric Hematology and Immunology, Robert Debré Hospital, AP-HP, Paris, France.
Isabelle PellierDepartment of Pediatric Hematology, Immunology and Oncology, CHU, Angers, France.
Cécile StovenDepartment of Pediatrics, CHU La Réunion, Groupe Hospitalier Sud Réunion, France.
Sylvie SouquereCNRS UMR9196, Gustave Roussy, Villejuif, France.
Iléana Antony-DebréINSERM UMR1170 and.
Blandine BeaupainFrench Registry of Chronic Neutropenia, Trousseau Hospital, Paris, France.
Nathalie AladjidiUnit of Pediatric Hematology, Centre d'Investigation Clinique 1401 INSERM Centre d'Investigation Clinique Plurithématique, CHU Bordeaux, France.
Vincent BarlogisDepartment of Pediatric Hematology, Timone Hospital, Assistance Publique-Hôpitaux de Marseille, Marseille, France.
Frédéric BauduerCentre Hospitalier Côte Basque, Bayonne, France.
Philippe BensaidDepartment of Pediatrics, Centre Hospitalier Argenteuil, Argenteuil, France.
Odile Boespflug-TanguyChild Neurology and Metabolic Disorders Department, Robert Debré Hospital, AP-HP, Paris, France.
Claire BergerDepartment of Pediatric Hematology and Oncology, CHU, Saint-Etienne, France.
Yves BertrandInstitut of Pediatric Hematology and Oncology, Lyon, France.
Liana CarausuDepartment of Pediatric Hematology and Oncology, CHU, Brest, France.
Claire FieschiDepartment of Clinical Immunology, Saint-Louis Hospital, AP-HP, Paris, France.
Claire GalambrunDepartment of Pediatric Hematology, Timone Hospital, Assistance Publique-Hôpitaux de Marseille, Marseille, France.
Aline SchmidtDepartment of Hematology, CHU, Angers, France.
Hubert JournelDepartment of Genetics, Bretagne-Atlantique Hospital, Vannes, France.
Françoise MazingueDepartment of Pediatric Hematology and Oncology, CHRU, Lille, France.
Brigitte NelkenDepartment of Pediatric Hematology and Oncology, CHRU, Lille, France.
Thuan Chong QuahDepartment of Pediatrics, National University Hospital, Singapore.
Eric OksenhendlerDepartment of Clinical Immunology, Saint-Louis Hospital, AP-HP, Paris, France.
Marie OuachéeDepartment of Pediatric Hematology and Immunology, Robert Debré Hospital, AP-HP, Paris, France.
Marlène PasquetDepartment of Pediatric Hematology and Oncology, CHU, Toulouse, France.
Véronique SaadaLaboratory of Hematology, Gustave Roussy, Villejuif, France.
Felipe SuarezDepartment of Hematology, Necker-Enfants Malades University Hospital, AP-HP, Paris, France.
Gérard PierronCNRS UMR9196, Gustave Roussy, Villejuif, France.
William VainchenkerINSERM UMR1170 and.
Isabelle PloINSERM UMR1170 and.ORCID 0000-0002-5915-6910
Jean DonadieuFrench Registry of Chronic Neutropenia, Trousseau Hospital, Paris, France.
Inserm · FRAssistance Publique – Hôpitaux de Paris · FRCentre National de la Recherche Scientifique · FRSorbonne Université · FRAssistance Publique Hôpitaux de Marseille · FRInstitut d’Hématologie et d’Oncologie Pédiatrique · FRCentre hospitalier Bretagne Atlantique · FRCentre Hospitalier de la Côte Basque · FRCentre Hospitalier Régional Universitaire de Brest · FRCentre Hospitalier Universitaire d'Angers · FRCentre Hospitalier Universitaire de Caen Normandie · FRCentre Hospitalier Universitaire de La Réunion · FRCentre Hospitalier Universitaire de Saint-Étienne · FRCentre Hospitalier Victor Dupouy · FRDélégation Paris 5 · FRInstitut Gustave Roussy · FRNational University Hospital · SG
Funding
Severe Chronic Neutropenia International RegistryR24AI049393 · NIAID · UNIVERSITY OF WASHINGTON · PI DALE, DAVID CHANDLER · 2004 to 2019
$10.6MAbstract
Congenital neutropenias (CNs) are rare heterogeneous genetic disorders, with about 25% of patients without known genetic defects. Using whole-exome sequencing, we identified a heterozygous mutation in the
Indexed as
Endoplasmic Reticulum StressMutationAdolescentAdultApoptosisAutophagyBone Marrow DiseasesChildChild, PreschoolCongenital Bone Marrow Failure SyndromesExocrine Pancreatic InsufficiencyFemaleHumansInfantInfant, NewbornLipomatosisSignal Recognition ParticleSRP54 protein, human
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What OpenQuestion holds
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Read underepoch 390
Registered trials
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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.