Hypomorphic mutations inTRNT1cause retinitis pigmentosa with erythrocytic microcytosis

On-Enzyme Refolding Permits Small RNA and tRNA Surveillance by the CCA-Adding Enzyme

(2015) Claus-D. Kuhn et al.   CELL

The 3′ addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1

(2015) Florin Sasarman et al.   HUMAN MOLECULAR GENETICS

Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases

(2015) Luke A. Wiley et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis

(2015) Theodore G. Drivas et al.   Science Translational Medicine

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

(2014) P. K. Chakraborty et al.   BLOOD

Sensory hair cell regeneration in the zebrafish lateral line

(2014) Mark E Lush et al.   DEVELOPMENTAL DYNAMICS

CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype

(2014) E R Burnight et al.   GENE THERAPY

Stem cells for investigation and treatment of inherited retinal disease

(2014) B. A. Tucker et al.   HUMAN MOLECULAR GENETICS

CRISPR-Cas systems for editing, regulating and targeting genomes

(2014) Jeffry D Sander et al.   NATURE BIOTECHNOLOGY

CDD: NCBI's conserved domain database

(2014) Aron Marchler-Bauer et al.   NUCLEIC ACIDS RESEARCH

Gene Therapy Using Stem Cells

(2014) E. R. Burnight et al.   Cold Spring Harbor Perspectives in Medicine

Characterization of Human Induced Pluripotent Stem Cell-Derived Retinal Pigment Epithelium Cell Sheets Aiming for Clinical Application

(2014) Hiroyuki Kamao et al.   Stem Cell Reports

Treating iron overload in patients with non-transfusion-dependent thalassemia

(2013) Ali T. Taher et al.   AMERICAN JOURNAL OF HEMATOLOGY

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

(2013) D. H. Wiseman et al.   BLOOD

Genes and mutations causing retinitis pigmentosa

(2013) S P Daiger et al.   CLINICAL GENETICS

Mechanisms of prickle1a function in zebrafish epilepsy and retinal neurogenesis

(2013) X. Mei et al.   Disease Models & Mechanisms

Prioritization of Retinal Disease Genes: An Integrative Approach

(2013) Alex H. Wagner et al.   HUMAN MUTATION

Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa

(2013) Budd A Tucker et al.   eLife

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

Use of a Synthetic Xeno-Free Culture Substrate for Induced Pluripotent Stem Cell Induction and Retinal Differentiation

(2012) Budd A. Tucker et al.   Stem Cells Translational Medicine

Btrim: A fast, lightweight adapter and quality trimming program for next-generation sequencing technologies

(2011) Yong Kong   GENOMICS

The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness

(2011) Lisa M. Baye et al.   HUMAN MOLECULAR GENETICS

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

(2011) B. A. Tucker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

(2010) Darryl Y. Nishimura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

tRNA nucleotidyltransferases: ancient catalysts with an unusual mechanism of polymerization

(2010) Heike Betat et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Current Status of the AMOEBA Polarizable Force Field

(2010) Jay W. Ponder et al.   JOURNAL OF PHYSICAL CHEMISTRY B

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Generation, Purification and Transplantation of Photoreceptors Derived from Human Induced Pluripotent Stem Cells

(2010) Deepak A. Lamba et al.   PLoS One

Developments in RNA Splicing and Disease

(2010) M. G. Poulos et al.   Cold Spring Harbor Perspectives in Biology

Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform

(2010) Pamela R. Pretorius et al.   PLoS Genetics

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS