Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

A novel mutation inRNU4ATACin a patient with microcephalic osteodysplastic primordial dwarfism type I

(2015) Esra Kilic et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

HTSeq--a Python framework to work with high-throughput sequencing data

(2014) S. Anders et al.   BIOINFORMATICS

A Highly Conserved Program of Neuronal Microexons Is Misregulated in Autistic Brains

(2014) Manuel Irimia et al.   CELL

Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency

(2014) J. Argente et al.   EMBO Molecular Medicine

Widespread intron retention in mammals functionally tunes transcriptomes

(2014) Ulrich Braunschweig et al.   GENOME RESEARCH

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

(2014) Martin Kircher et al.   NATURE GENETICS

Global analysis of the nuclear processing of transcripts with unspliced U12-type introns by the exosome

(2014) E. H. Niemela et al.   NUCLEIC ACIDS RESEARCH

Biochemical defects in minor spliceosome function in the developmental disorder MOPD I

(2014) F. Jafarifar et al.   RNA

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Minor introns are embedded molecular switches regulated by highly unstable U6atac snRNA

(2013) Ihab Younis et al.   eLife

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I

(2012) Ghada M.H. Abdel-Salam et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

iReckon: Simultaneous isoform discovery and abundance estimation from RNA-seq data

(2012) A. M. Mezlini et al.   GENOME RESEARCH

The Evolutionary Landscape of Alternative Splicing in Vertebrate Species

(2012) N. L. Barbosa-Morais et al.   SCIENCE

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

A Comparative Transcriptomic Analysis Reveals Conserved Features of Stem Cell Pluripotency in Planarians and Mammals

(2012) Roselyne M. Labbé et al.   STEM CELLS

The significant other: splicing by the minor spliceosome

(2012) Janne J. Turunen et al.   Wiley Interdisciplinary Reviews-RNA

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder

(2011) Ghada M.H. Abdel-Salam et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome

(2011) Helen R. Fairchild et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene

(2011) R Nagy et al.   CLINICAL GENETICS

Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases

(2011) P. E. A. Gray et al.   International Journal of Immunogenetics

Computational Techniques for Human Genome Resequencing Using Mated Gapped Reads

(2011) Paolo Carnevali et al.   JOURNAL OF COMPUTATIONAL BIOLOGY

Interaction Profiling Identifies the Human Nuclear Exosome Targeting Complex

(2011) Michal Lubas et al.   MOLECULAR CELL

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

Structural basis for the dual U4 and U4atac snRNA-binding specificity of spliceosomal protein hPrp31

(2011) S. Liu et al.   RNA

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

(2011) P. Edery et al.   SCIENCE

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

(2011) H. He et al.   SCIENCE

Ku is a 5′-dRP/AP lyase that excises nucleotide damage near broken ends

(2010) Steven A. Roberts et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

(2010) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Differential expression analysis for sequence count data

(2010) Simon Anders et al.   GENOME BIOLOGY

TopHat: discovering splice junctions with RNA-Seq

(2009) Cole Trapnell et al.   BIOINFORMATICS

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

(2009) M. D. Robinson et al.   BIOINFORMATICS

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

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