Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

The ATP binding site of the chromatin remodeling homolog Lsh is required for nucleosome density and de novo DNA methylation at repeat sequences

(2015) Jianke Ren et al.   NUCLEIC ACIDS RESEARCH

Genome-wide DNA methylation patterns in LSH mutant reveals de-repression of repeat elements and redundant epigenetic silencing pathways

(2014) Weishi Yu et al.   GENOME RESEARCH

Identification of Cdca7 as a novel Notch transcriptional target involved in hematopoietic stem cell emergence

(2014) Jordi Guiu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology

(2014) Guillaume Velasco et al.   Orphanet Journal of Rare Diseases

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

(2013) Corry MR Weemaes et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients

(2013) Hirohisa Nitta et al.   JOURNAL OF HUMAN GENETICS

POK/ZBTB proteins: an emerging family of proteins that regulate lymphoid development and function

(2012) Sung-Uk Lee et al.   IMMUNOLOGICAL REVIEWS

The MYC-Associated Protein CDCA7 Is Phosphorylated by AKT To Regulate MYC-Dependent Apoptosis and Transformation

(2012) R. Montgomery Gill et al.   MOLECULAR AND CELLULAR BIOLOGY

Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2

(2011) Jessica C. de Greef et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ICF Syndrome Mutations Cause a Broad Spectrum of Biochemical Defects in DNMT3B-Mediated De Novo DNA Methylation

(2011) Amir H. Moarefi et al.   JOURNAL OF MOLECULAR BIOLOGY

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Transcription Factor E2F-Associated Phosphoprotein (EAPP), RAM2/CDCA7L/JPO2 (R1), and Simian Virus 40 Promoter Factor 1 (Sp1) Cooperatively Regulate Glucocorticoid Activation of Monoamine Oxidase B

(2010) K. Chen et al.   MOLECULAR PHARMACOLOGY

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

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

Dnmt3b recruitment through E2F6 transcriptional repressor mediates germ-line gene silencing in murine somatic tissues

(2010) G. Velasco et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA