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

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

(2013) Bari J. Ballew et al.   HUMAN GENETICS

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

Structures of the human and Drosophila 80S ribosome

(2013) Andreas M. Anger et al.   NATURE

Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry

(2012) A. Vlachos et al.   BLOOD

Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia

(2012) John H. Fargo et al.   BRITISH JOURNAL OF HAEMATOLOGY

Frameshift mutation in p53 regulatorRPL26is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

(2012) Hanna T. Gazda et al.   HUMAN MUTATION

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

(2012) Vijay G. Sankaran et al.   JOURNAL OF CLINICAL INVESTIGATION

Kaviar: an accessible system for testing SNV novelty

(2011) Gustavo Glusman et al.   BIOINFORMATICS

Ribosomal protein gene deletions in Diamond-Blackfan anemia

(2011) J. E. Farrar et al.   BLOOD

Hematopoietic defects in rps29 mutant zebrafish depend upon p53 activation

(2011) Alison M. Taylor et al.   EXPERIMENTAL HEMATOLOGY

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia

(2011) Jason E. Farrar et al.   SEMINARS IN HEMATOLOGY

Diamond Blackfan Anemia

(2011) S. Ball   Hematology-American Society of Hematology Education Program

Ribosomopathies: human disorders of ribosome dysfunction

(2010) A. Narla et al.   BLOOD

Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study

(2010) Blanche P. Alter et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

(2010) Ilenia Boria et al.   HUMAN MUTATION

Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits

(2010) Marie-Françoise O’Donohue et al.   JOURNAL OF CELL BIOLOGY

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Identifying novel constrained elements by exploiting biased substitution patterns

(2009) Manuel Garber et al.   BIOINFORMATICS

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

(2009) A. M. Waterhouse et al.   BIOINFORMATICS

A genetic screen in zebrafish defines a hierarchical network of pathways required for hematopoietic stem cell emergence

(2009) C. E. Burns et al.   BLOOD

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family

(2008) N. Danilova et al.   BLOOD

Many ribosomal protein mutations are associated with growth impairment and tumor predisposition in zebrafish

(2008) Kevin Lai et al.   DEVELOPMENTAL DYNAMICS

RPS19 mutations in patients with Diamond-Blackfan anemia

(2008) Maria Francesca Campagnoli et al.   HUMAN MUTATION

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

(2008) Kelly A McGowan et al.   NATURE GENETICS

Loss of p53 synthesis in zebrafish tumors with ribosomal protein gene mutations

(2008) A. W. MacInnes et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA