Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype
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Title
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11
in two patients with Cornelia de Lange-overlapping phenotype
Authors
Keywords
-
Journal
CLINICAL GENETICS
Volume 89, Issue 1, Pages 74-81
Publisher
Wiley
Online
2015-02-04
DOI
10.1111/cge.12564
References
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Related references
Note: Only part of the references are listed.- Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
- (2014) Charlotte W Ockeloen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
- (2014) Frank J. Kaiser et al. HUMAN MOLECULAR GENETICS
- Jannovar: A Java Library for Exome Annotation
- (2014) Marten Jäger et al. HUMAN MUTATION
- Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics
- (2014) Diana Braunholz et al. HUMAN MUTATION
- Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
- (2014) Morad Ansari et al. JOURNAL OF MEDICAL GENETICS
- Partial deletion ofANKRD11results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome
- (2013) Mohamed Khalifa et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Cornelia de Lange individuals with new and recurrentSMC1Amutations enhance delineation of mutation repertoire and phenotypic spectrum
- (2013) Cristina Gervasini et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Cohesin: Functions beyond sister chromatid cohesion
- (2013) Gunjan D. Mehta et al. FEBS LETTERS
- High rate of mosaicism in individuals with Cornelia de Lange syndrome
- (2013) Sylvia A Huisman et al. JOURNAL OF MEDICAL GENETICS
- RAD21 Mutations Cause a Human Cohesinopathy
- (2012) Matthew A. Deardorff et al. AMERICAN JOURNAL OF HUMAN GENETICS
- GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes
- (2012) T. Kamphans et al. BIOINFORMATICS
- HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
- (2012) Matthew A. Deardorff et al. NATURE
- Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia
- (2011) Asli Sirmaci et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- Cohesin mediates transcriptional insulation by CCCTC-binding factor
- (2008) Kerstin S. Wendt et al. NATURE
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