ArticleHaematologica2018
The phenotypic spectrum of germline
Open access · goldAbstract read
In one paragraph
Article in Haematologica, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
1.9field-weighted citation impact, top 14% of its field
What it found
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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.
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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.
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Who cites it
18 citing papers in PubMed, 27 citations in OpenAlex.
- Congenital-onset MLASA2 from a novelJournal of neuromuscular diseases · 2026Review
- Correlation of MLASA2 Clinical Phenotype and Survival with Mt-TyrRS Protein Damage: Linking Systematic Review, Meta-Analysis and 3D Hotspot Mapping.Current issues in molecular biology · 2026Review
- First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain ofInternational journal of molecular sciences · 2025Article
- The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children.Diagnostics (Basel, Switzerland) · 2025Review
- The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation.Scientific reports · 2025Article
- A kinetic model for compound heterozygous pathogenic variants in Tyrosyl-tRNA synthetase gene YARS2-Associated neonatal phenotype.The Journal of biological chemistry · 2025Article
- Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation inFrontiers in pediatrics · 2025Article
- Targeting mitochondrial tyrosyl-tRNA synthetase YARS2 suppresses colorectal cancer progression.Cancer biology & therapy · 2022Article
- Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.Orphanet journal of rare diseases · 2022Review
- Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.American journal of medical genetics. Part A · 2022Article
- SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.Human mutation · 2021Review
- Two Novel Variants inJournal of clinical medicine · 2021Article
- Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.International journal of molecular sciences · 2021Review
- Genome-wide association and transcriptome studies identify candidate genes and pathways for feed conversion ratio in pigs.BMC genomics · 2021Article
- COVID-19 associated respiratory failure complicating a pericardial effusion in a patient with sideroblastic anemia.Respiratory medicine case reports · 2021Article
- Article
- The molecular genetics of sideroblastic anemia.Blood · 2019Review
- An animal model for mitochondrial tyrosyl-tRNA synthetase deficiency reveals links between oxidative phosphorylation and retinal function.The Journal of biological chemistryArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
30 authors at 20 institutions in 6 countries.
Lisa G RileyGenetic Metabolic Disorders Research Unit, Kids Research Institute, Children's Hospital at Westmead, Sydney, Australia.
Matthew M HeeneyDana Farber-Boston Children's Center for Cancer and Blood Disorders, Boston, MA, USA.
Joëlle Rudinger-ThirionArchitecture et Réactivité de l'ARN, Université de Strasbourg, CNRS, IBMC, Strasbourg, France.
Magali FrugierArchitecture et Réactivité de l'ARN, Université de Strasbourg, CNRS, IBMC, Strasbourg, France.
Dean R CampagnaDepartment of Pathology, Boston Children's Hospital, Boston, MA, USA.
Ronghao ZhouDana Farber-Boston Children's Center for Cancer and Blood Disorders, Boston, MA, USA.
Gregory A HaleJohns Hopkins All Children's Hospital, St. Petersburg, FL, USA.
Lee M HilliardDivision of Pediatric Hematology Oncology, University of Alabama at Birmingham, AL, USA.
Joel A KaplanLevine Children's Hospital, Charlotte, NC, USA.
Janet L KwiatkowskiThe Children's Hospital of Philadelphia, Division of Hematology, Philadelphia, PA, USA.
Colin A SieffDana Farber-Boston Children's Center for Cancer and Blood Disorders, Boston, MA, USA.
David P SteensmaAdult Leukemia Program, Dana-Farber Cancer Institute, Boston, MA, USA.
Alexander J RenningsDepartment of Internal Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands.
Annet SimonsDepartment of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
Nicolaas SchaapDepartment of Hematology, Radboud University Medical Centre, Nijmegen, the Netherlands.
Richard J RoodenburgRadboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Centre, Nijmegen, the Netherlands.
Tjitske KleefstraDepartment of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
Leonor ArenillasLaboratorio Citología Hematológica, Servicio Patología, GRETNHE, IMIM Hospital del Mar Research Institute, Hospital del Mar, Barcelona, Spain.
Josep Fita-TorróIron metabolism: regulation and disease group, Josep Carreras Leukaemia Research Institute (IJC), Campus ICO-Germans Trias i Pujol, Campus Can Ruti, Carretera de Can Ruti, Cami de les Escoles, Badalona, Spain.
Rasha AhmedDepartment of Pediatrics and Adolescents, American University of Beirut Medical Center, Beirut, Lebanon.
Miguel AbboudDepartment of Pediatrics and Adolescents, American University of Beirut Medical Center, Beirut, Lebanon.
Elie BecharaDepartment of Pediatrics, Saint George Hospital University Medical Center, Beirut, Lebanon.
Roula FarahDepartment of Pediatrics, Saint George Hospital University Medical Center, Beirut, Lebanon.
Rienk Y J TammingaBeatrix Children's Hospital, Department of Pediatric Hematology, University Medical Center Groningen, University of Groningen, the Netherlands.
Sylvia S BottomleyDepartment of Medicine, University of Oklahoma College of Medicine, Oklahoma City, OK, USA.
Mayka SanchezIron metabolism: regulation and disease group, Josep Carreras Leukaemia Research Institute (IJC), Campus ICO-Germans Trias i Pujol, Campus Can Ruti, Carretera de Can Ruti, Cami de les Escoles, Badalona, Spain.
Gerwin HulsDepartment of Hematology, University Medical Center Groningen, the Netherlands.
Dorine W SwinkelsDepartment of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, the Netherlands.
John ChristodoulouGenetic Metabolic Disorders Research Unit, Kids Research Institute, Children's Hospital at Westmead, Sydney, Australia john.christodoulou@mcri.edu.au.
Mark D FlemingDana Farber-Boston Children's Center for Cancer and Blood Disorders, Boston, MA, USA.
Radboud University Medical Center · NLRadboud University Nijmegen · NLAmerican University of Beirut Medical Center · LBCentre National de la Recherche Scientifique · FRHarvard University · USSaint George Hospital · LBBoston Children's Hospital · USCenter for Cancer and Blood Disorders · USChildren's Center · USChildren's Hospital at Westmead · AUChildren's Hospital of Philadelphia · USDana-Farber/Boston Children's Cancer and Blood Disorders Center · USInstitute of Predictive and Personalized Medicine of Cancer · ESJohns Hopkins All Children's Hospital · USJosep Carreras Leukaemia Research Institute · ESLevine Children's Hospital · USMunicipal Institute for Medical Research · ESUniversity Medical Center Groningen · NLUniversity of Alabama at Birmingham · USUniversity of Groningen · NL
Funding
Molecular Genetics of Sideroblastic AnemiaR01DK087992 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI FLEMING, MARK D · 2011 to 2015
$2.0MNIDDK NIH HHS R01 DK087992
Abstract
PubMed holds no abstract for this paper.
Indexed as
Germ-Line MutationAcidosis, LacticAdolescentAnemia, SideroblasticFemaleGenetic Association StudiesGenetic Diseases, X-LinkedHumansInfantMaleMELAS SyndromeMiddle AgedMitochondrial ProteinsMutation, MissenseTyrosine-tRNA LigaseYoung AdultMitochondrial ProteinsTyrosine-tRNA Ligase
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC
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.