Related references
Note: Only part of the references are listed.A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers
Kym M. Boycott et al.
CELL (2019)
Quality and quantity control of gene expression by nonsense-mediated mRNA decay
Tatsuaki Kurosaki et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2019)
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
Laure Fresard et al.
NATURE MEDICINE (2019)
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses
Samuel W. Baker et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2019)
A map of constrained coding regions in the human genome
James M. Havrilla et al.
NATURE GENETICS (2019)
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
Hernan D. Gonorazky et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
Lisa J. Ewans et al.
GENETICS IN MEDICINE (2018)
BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome
Gabrielle Olley et al.
NATURE GENETICS (2018)
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Antonie D. Kline et al.
NATURE REVIEWS GENETICS (2018)
ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants
Najmeh Alirezaie et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation
Sami S. Amr et al.
GENETICS IN MEDICINE (2017)
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
Peter D. Stenson et al.
HUMAN GENETICS (2017)
Toil enables reproducible, open source, big biomedical data analyses
John Vivian et al.
NATURE BIOTECHNOLOGY (2017)
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Beryl B. Cummings et al.
SCIENCE TRANSLATIONAL MEDICINE (2017)
Genetic diagnosis of Mendelian disorders via RNA sequencing
Laura S. Kremer et al.
NATURE COMMUNICATIONS (2017)
The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome
Daniel A. Newkirk et al.
CLINICAL EPIGENETICS (2017)
Clinical application of whole-exome sequencing across clinical indications
Kyle Retterer et al.
GENETICS IN MEDICINE (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Morad Ansari et al.
JOURNAL OF MEDICAL GENETICS (2014)
Reliable Identification of Genomic Variants from RNA-Seq Data
Robert Piskol et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
STAR: ultrafast universal RNA-seq aligner
Alexander Dobin et al.
BIOINFORMATICS (2013)
Genotype instability during long-term subculture of lymphoblastoid cell lines
Ji Hee Oh et al.
JOURNAL OF HUMAN GENETICS (2013)
The Genotype-Tissue Expression (GTEx) project
John Lonsdale et al.
NATURE GENETICS (2013)
In depth comparison of an individual's DNA and its lymphoblastoid cell line using whole genome sequencing
Dorothee Nickles et al.
BMC GENOMICS (2012)
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3
Pablo Cingolani et al.
FLY (2012)
SIFT web server: predicting effects of amino acid substitutions on proteins
Ngak-Leng Sim et al.
NUCLEIC ACIDS RESEARCH (2012)
Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia
Asli Sirmaci et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor
Eric R. Londin et al.
BMC GENOMICS (2011)
Densely Interconnected Transcriptional Circuits Control Cell States in Human Hematopoiesis
Noa Novershtern et al.
CELL (2011)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
Mediator and cohesin connect gene expression and chromatin architecture
Michael H. Kagey et al.
NATURE (2010)
Utility of Lymphoblastoid Cell Lines
L. Sie et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2009)
RNA-Seq: a revolutionary tool for transcriptomics
Zhong Wang et al.
NATURE REVIEWS GENETICS (2009)
Fidelity of SNP Array Genotyping Using Epstein Barr Virus-Transformed B-Lymphocyte Cell Lines: Implications for Genome-Wide Association Studies
Joshua T. Herbeck et al.
PLOS ONE (2009)
Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells
Jinglan Liu et al.
PLOS BIOLOGY (2009)
Share Paper
