Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons
Published 2018 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons
Authors
Keywords
-
Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 115, Issue 34, Pages E8007-E8016
Publisher
Proceedings of the National Academy of Sciences
Online
2018-08-03
DOI
10.1073/pnas.1805437115
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis
- (2018) Rajiv K. Khajuria et al. CELL
- Using high-resolution variant frequencies to empower clinical genome interpretation
- (2017) Nicola Whiffin et al. GENETICS IN MEDICINE
- Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation
- (2017) Lisa Mirabello et al. JOURNAL OF MEDICAL GENETICS
- Visualization of chemical modifications in the human 80S ribosome structure
- (2017) S. Kundhavai Natchiar et al. NATURE
- The prevalence and morphometry of an accessory spleen: A meta-analysis and systematic review of 22,487 patients
- (2017) Jens Vikse et al. International Journal of Surgery
- A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult
- (2016) Anupama Narla et al. BLOOD CELLS MOLECULES AND DISEASES
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles
- (2016) Andrew T Timberlake et al. eLife
- Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind
- (2015) Bertrand Boisson et al. CURRENT OPINION IN IMMUNOLOGY
- Structure of the human 80S ribosome
- (2015) Heena Khatter et al. NATURE
- Rare-Variant Association Analysis: Study Designs and Statistical Tests
- (2014) Seunggeung Lee et al. AMERICAN JOURNAL OF HUMAN GENETICS
- FOXN1 in Organ Development and Human Diseases
- (2014) Loredana Palamaro et al. INTERNATIONAL REVIEWS OF IMMUNOLOGY
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Altered translation of GATA1 in Diamond-Blackfan anemia
- (2014) Leif S Ludwig et al. NATURE MEDICINE
- Autoimmunity by haploinsufficiency
- (2014) F. Rieux-Laucat et al. SCIENCE
- VarBin, a novel method for classifying true and false positive variants in NGS data
- (2013) Jacob Durtschi et al. BMC BIOINFORMATICS
- Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond–Blackfan anemia
- (2013) Michael Landowski et al. HUMAN GENETICS
- Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia
- (2013) A. Bolze et al. SCIENCE
- The Diverse Clinical Features of Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome)
- (2013) Solrun Melkorka Maggadottir et al. Journal of Allergy and Clinical Immunology-In Practice
- 5′UTR Variants of Ribosomal Protein S19 Transcript Determine Translational Efficiency: Implications for Diamond-Blackfan Anemia and Tissue Variability
- (2011) Jitendra Badhai et al. PLoS One
- A region in the C-terminal domain of ribosomal protein SA required for binding of SA to the human 40S ribosomal subunit
- (2010) Alexey A. Malygin et al. BIOCHIMIE
- The ribosomal basis of diamond-blackfan anemia: mutation and database update
- (2010) Ilenia Boria et al. HUMAN MUTATION
- Isolated Congenital Asplenia: A French Nationwide Retrospective Survey of 20 Cases
- (2010) Nizar Mahlaoui et al. JOURNAL OF PEDIATRICS
- Detection of nonneutral substitution rates on mammalian phylogenies
- (2009) K. S. Pollard et al. GENOME RESEARCH
- Human Splicing Finder: an online bioinformatics tool to predict splicing signals
- (2009) François-Olivier Desmet et al. NUCLEIC ACIDS RESEARCH
- Congenital asplenia and group B streptococcus sepsis in the adult: case report and review of the literature
- (2008) Kumaran Thiruppathy et al. FEMS IMMUNOLOGY AND MEDICAL MICROBIOLOGY
- Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency
- (2008) P. Quarello et al. HAEMATOLOGICA
- RPS19 mutations in patients with Diamond-Blackfan anemia
- (2008) Maria Francesca Campagnoli et al. HUMAN MUTATION
- Isolated congenital spleen agenesis: A rare cause of chronic thromboembolic pulmonary hypertension in an adult
- (2008) Fumiyuki TAKAHASHI et al. RESPIROLOGY
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now