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The Genetic Landscape of Diamond-Blackfan Anemia

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1001/jama.2014.14604openalex-snapshot

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

inferredcites →https://doi.org/10.1001/jama.2015.1389openalex-snapshot

Exome Sequencing Comes to the Clinic

inferredcites →https://doi.org/10.1002/ajh.24541openalex-snapshot

Erythrocyte adenosine deaminase levels are elevated in D iamond B lackfan anemia but not in the 5q− syndrome

inferredcites →https://doi.org/10.1002/ajmg.a.36633openalex-snapshot

Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

inferredcites →https://doi.org/10.1002/ajmg.a.38360openalex-snapshot

Variable expressivity and incomplete penetrance in a large family with non‐classical Diamond‐Blackfan anemia associated with ribosomal protein L11 splicing variant

inferredcites →https://doi.org/10.1002/humu.20864openalex-snapshot

A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia

inferredcites →https://doi.org/10.1002/humu.21383openalex-snapshot

The ribosomal basis of diamond-blackfan anemia: mutation and database update

inferredcites →https://doi.org/10.1002/humu.22932openalex-snapshot

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

inferredcites →https://doi.org/10.1002/pbc.22244openalex-snapshot

Systematic molecular genetic analysis of congenital sideroblastic anemia: Evidence for genetic heterogeneity and identification of novel mutations

inferredcites →https://doi.org/10.1007/978-1-4939-3578-9_16openalex-snapshot

Visualizing Genomic Data Using Gviz and Bioconductor

inferredcites →https://doi.org/10.1007/978-1-4939-7778-9_9openalex-snapshot

Analyzing Copy Number Variation with Droplet Digital PCR

inferredcites →https://doi.org/10.1016/j.ajhg.2008.11.004openalex-snapshot

Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

inferredcites →https://doi.org/10.1016/j.ajhg.2012.08.005openalex-snapshot

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

inferredcites →https://doi.org/10.1016/j.ajhg.2016.06.031openalex-snapshot

Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders

inferredcites →https://doi.org/10.1016/j.ajhg.2017.01.017openalex-snapshot

Who’s Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy

inferredcites →https://doi.org/10.1016/j.bbmt.2005.05.005openalex-snapshot

Bone Marrow Transplantation for Diamond-Blackfan Anemia

inferredcites →https://doi.org/10.1016/j.bcmd.2016.08.001openalex-snapshot

A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult

inferredcites →https://doi.org/10.1016/j.cell.2005.12.030openalex-snapshot

Cernunnos, a Novel Nonhomologous End-Joining Factor, Is Mutated in Human Immunodeficiency with Microcephaly

inferredcites →https://doi.org/10.1016/j.cell.2017.02.026openalex-snapshot

Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation

inferredcites →https://doi.org/10.1016/j.cell.2018.02.036openalex-snapshot

Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis

inferredcites →https://doi.org/10.1016/j.cels.2017.11.003openalex-snapshot

Quantitative Missense Variant Effect Prediction Using Large-Scale Mutagenesis Data

inferredcites →https://doi.org/10.1016/j.ejmg.2017.10.017openalex-snapshot

Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience

inferredcites →https://doi.org/10.1016/j.jaci.2015.06.008openalex-snapshot

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation

inferredcites →https://doi.org/10.1016/j.jaci.2016.10.053openalex-snapshot

Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations

inferredcites →https://doi.org/10.1016/j.jpeds.2016.06.058openalex-snapshot

Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency

inferredcites →https://doi.org/10.1038/5951openalex-snapshot

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

inferredcites →https://doi.org/10.1038/bmt.2017.173openalex-snapshot

Successful reduced intensity hematopoietic cell transplant in a patient with deficiency of adenosine deaminase 2

inferredcites →https://doi.org/10.1038/nature15393openalex-snapshot

A global reference for human genetic variation

inferredcites →https://doi.org/10.1038/nature19057openalex-snapshot

Analysis of protein-coding genetic variation in 60,706 humans

inferredcites →https://doi.org/10.1038/nature24482openalex-snapshot

Visualization of chemical modifications in the human 80S ribosome structure

inferredcites →https://doi.org/10.1038/ng.2892openalex-snapshot

A general framework for estimating the relative pathogenicity of human genetic variants

inferredcites →https://doi.org/10.1038/ng.3200openalex-snapshot

Large multiallelic copy number variations in humans

inferredcites →https://doi.org/10.1038/ng.359openalex-snapshot

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

inferredcites →https://doi.org/10.1038/ng.3703openalex-snapshot

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

inferredcites →https://doi.org/10.1038/nm.3557openalex-snapshot

Altered translation of GATA1 in Diamond-Blackfan anemia

inferredcites →https://doi.org/10.1038/nm.3630openalex-snapshot

Reduced translation of GATA1 in Diamond-Blackfan anemia

inferredcites →https://doi.org/10.1038/nmeth0410-248openalex-snapshot

A method and server for predicting damaging missense mutations

inferredcites →https://doi.org/10.1038/nprot.2014.006openalex-snapshot

Full-length RNA-seq from single cells using Smart-seq2

inferredcites →https://doi.org/10.1038/s41436-018-0024-6openalex-snapshot

Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature

inferredcites →https://doi.org/10.1056/nejmc1405506openalex-snapshot

Mutant ADA2 in Vasculopathies

inferredcites →https://doi.org/10.1056/nejmoa1306555openalex-snapshot

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

inferredcites →https://doi.org/10.1086/302100openalex-snapshot

Identification of Microdeletions Spanning the Diamond-Blackfan Anemia Locus on 19q13 and Evidence for Genetic Heterogeneity

inferredcites →https://doi.org/10.1086/421530openalex-snapshot

Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA)

inferredcites →https://doi.org/10.1093/bib/bbs017openalex-snapshot

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

inferredcites →https://doi.org/10.1093/bioinformatics/bts635openalex-snapshot

STAR: ultrafast universal RNA-seq aligner

inferredcites →https://doi.org/10.1093/bioinformatics/btv642openalex-snapshot

Two-pass alignment improves novel splice junction quantification

inferredcites →https://doi.org/10.1093/nar/gkm626openalex-snapshot

Molecular basis of Diamond Blackfan anemia: structure and function analysis of RPS19

inferredcites →https://doi.org/10.1101/148353openalex-snapshot

Regional missense constraint improves variant deleteriousness prediction

inferredcites →https://doi.org/10.1101/199927openalex-snapshot

Many rare genetic variants have unrecognized large-effect disruptions to exon recognition

inferredcites →https://doi.org/10.1101/201178openalex-snapshot

Scaling accurate genetic variant discovery to tens of thousands of samples

inferredcites →https://doi.org/10.1101/mcs.a001941openalex-snapshot

Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia

inferredcites →https://doi.org/10.1111/bjh.12058openalex-snapshot

Molecular mechanisms of pathology and treatment in D iamond B lackfan A naemia

inferredcites →https://doi.org/10.1111/bjh.12167openalex-snapshot

Erythrocyte adenosine deaminase: diagnostic value for Diamond‐Blackfan anaemia

inferredcites →https://doi.org/10.1111/bjh.12919openalex-snapshot

Recurrent GATA 1 mutations in D iamond‐ B lackfan anaemia

inferredcites →https://doi.org/10.1111/bjh.13229openalex-snapshot

Loss of function mutations in RPL27 and RPS27 identified by whole‐exome sequencing in Diamond‐Blackfan anaemia

inferredcites →https://doi.org/10.1111/cge.13158openalex-snapshot

Molecular analysis and genotype‐phenotype correlation of Diamond‐Blackfan anemia

inferredcites →https://doi.org/10.1111/j.1365-2141.2008.07269.xopenalex-snapshot

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

inferredcites →https://doi.org/10.1111/j.1753-4887.1957.tb00552.xopenalex-snapshot

CONGENITAL HYPOPLASTIC ANEMIA

inferredcites →https://doi.org/10.1126/scitranslmed.aad5169openalex-snapshot

Quantifying prion disease penetrance using large population control cohorts

inferredcites →https://doi.org/10.1126/scitranslmed.aal5209openalex-snapshot

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

inferredcites →https://doi.org/10.1136/jmedgenet-2016-104346openalex-snapshot

Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation

inferredcites →https://doi.org/10.1136/jmg.2006.045252openalex-snapshot

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

inferredcites →https://doi.org/10.1136/jmg.2009.075903openalex-snapshot

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond–Blackfan anaemia

inferredcites →https://doi.org/10.1161/circgenetics.117.002044openalex-snapshot

Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population

inferredcites →https://doi.org/10.1172/jci63597openalex-snapshot

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

inferredcites →https://doi.org/10.1182/blood-2011-08-375170openalex-snapshot

Ribosomal protein gene deletions in Diamond-Blackfan anemia

inferredcites →https://doi.org/10.1182/blood-2013-09-527127openalex-snapshot

MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts

inferredcites →https://doi.org/10.1182/blood-2013-11-540278openalex-snapshot

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

inferredcites →https://doi.org/10.1182/blood-2014-04-571687openalex-snapshot

Pearson syndrome in a Diamond-Blackfan anemia cohort

inferredcites →https://doi.org/10.1182/blood-2017-01-760462openalex-snapshot

Molecular convergence in ex vivo models of Diamond-Blackfan anemia

inferredcites →https://doi.org/10.1182/blood-2017-05-783191openalex-snapshot

Confounding in ex vivo models of Diamond-Blackfan anemia

inferredcites →https://doi.org/10.1182/blood.v130.suppl_1.874.874openalex-snapshot

Diamond-Blackfan Anemia Phenotype Caused By Deficiency of Adenosine Deaminase 2

inferredcites →https://doi.org/10.1186/1471-2105-12-323openalex-snapshot

RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome

inferredcites →https://doi.org/10.1186/gb-2011-12-1-r1openalex-snapshot

A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries

inferredcites →https://doi.org/10.1186/s13059-016-0974-4openalex-snapshot

The Ensembl Variant Effect Predictor

inferredcites →https://doi.org/10.1371/journal.pcbi.1003153openalex-snapshot

GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

inferredcites →https://doi.org/10.2210/pdb6ek0/pdbopenalex-snapshot

High-resolution cryo-EM structure of the human 80S ribosome

inferredcites →https://doi.org/10.3324/haematol.2012.062281openalex-snapshot

High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay

inferredcites →https://doi.org/10.4161/fly.19695openalex-snapshot

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

inferredcites →https://doi.org/10.7554/elife.14874openalex-snapshot

Ensemble cryo-EM uncovers inchworm-like translocation of a viral IRES through the ribosome

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Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.1002/9781683674023.ch72openalex-snapshot

Inherited Bone Marrow Failure Syndromes

inferred← citeshttps://doi.org/10.1146/annurev-biochem-030222-113611openalex-snapshot

Eukaryotic Ribosome Assembly

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