CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

(2018) Jonas Straub et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Insulator Protein CTCF Is Required for CorrectHoxGene Expression, but Not for Embryonic Development inDrosophila

(2018) Maria Cristina Gambetta et al.   GENETICS

The Insulator Protein CTCF Is Required for CorrectHoxGene Expression, but Not for Embryonic Development inDrosophila

(2018) Maria Cristina Gambetta et al.   GENETICS

Heavy-tailed prior distributions for sequence count data: removing the noise and preserving large differences

(2018) Anqi Zhu et al.   BIOINFORMATICS

CTCFdeletion syndrome: clinical features and epigenetic delineation

(2017) Ikumi Hori et al.   JOURNAL OF MEDICAL GENETICS

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

(2017) A. Jeremy Willsey et al.   NEURON

Use of Exome Sequencing for Infants in Intensive Care Units

(2017) Linyan Meng et al.   JAMA Pediatrics

3D Chromosome Regulatory Landscape of Human Pluripotent Cells

(2016) Xiong Ji et al.   Cell Stem Cell

Expansion of the Gene Ontology knowledgebase and resources

(2016)   NUCLEIC ACIDS RESEARCH

PANTHER version 11: expanded annotation data from Gene Ontology and Reactome pathways, and data analysis tool enhancements

(2016) Huaiyu Mi et al.   NUCLEIC ACIDS RESEARCH

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

AlteredGPM6A/M6Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human andDrosophila

(2014) Anne Gregor et al.   HUMAN MUTATION

Dual Effect of CTCF Loss on Neuroprogenitor Differentiation and Survival

(2014) L. A. Watson et al.   JOURNAL OF NEUROSCIENCE

De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability

(2013) Anne Gregor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

featureCounts: an efficient general purpose program for assigning sequence reads to genomic features

(2013) Y. Liao et al.   BIOINFORMATICS

A versatile platform for creating a comprehensive UAS-ORFeome library in Drosophila

(2013) J. Bischof et al.   DEVELOPMENT

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Nature and function of insulator protein binding sites in the Drosophila genome

(2012) Y. B. Schwartz et al.   GENOME RESEARCH

Loss of Maternal CTCF Is Associated with Peri-Implantation Lethality of Ctcf Null Embryos

(2012) James M. Moore et al.   PLoS One

CTCF Is Required for Neural Development and Stochastic Expression of Clustered Pcdh Genes in Neurons

(2012) Teruyoshi Hirayama et al.   Cell Reports

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS