KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
出版年份 2018 全文链接
标题
KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
出版商
Springer Nature America, Inc
发表日期
2018-09-21
DOI
10.1038/s41436-018-0259-2
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
- (2017) Jennifer E. Posey et al. NEW ENGLAND JOURNAL OF MEDICINE
- Food allergy in a child with de novo KAT6A mutation
- (2017) Varpu Elenius et al. Clinical and Translational Allergy
- Whole exome sequencing reveals de novo pathogenic variants inKAT6Aas a cause of a neurodevelopmental disorder
- (2016) Francisca Millan et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability
- (2016) Alexandra Gauthier-Vasserot et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- UniProt: the universal protein knowledgebase
- (2016) NUCLEIC ACIDS RESEARCH
- Acetylation of the Cd8 Locus by KAT6A Determines Memory T Cell Diversity
- (2016) Dane M. Newman et al. Cell Reports
- Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features
- (2015) Emma Tham et al. AMERICAN JOURNAL OF HUMAN GENETICS
- De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay
- (2015) Valerie A. Arboleda et al. AMERICAN JOURNAL OF HUMAN GENETICS
- MOZ and MORF acetyltransferases: Molecular interaction, animal development and human disease
- (2015) Xiang-Jiao Yang BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
- (2015) Caroline F Wright et al. LANCET
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Regulation of germinal center responses and B-cell memory by the chromatin modifier MOZ
- (2014) Kim L. Good-Jacobson et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome
- (2013) Katalin Szakszon et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- TheKAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms
- (2012) Philippe M. Campeau et al. HUMAN MUTATION
- Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome
- (2011) Jill Clayton-Smith et al. AMERICAN JOURNAL OF HUMAN GENETICS
- MYST-family histone acetyltransferases: beyond chromatin
- (2010) Vasileia Sapountzi et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- The histone acetyl transferase activity of monocytic leukemia zinc finger is critical for the proliferation of hematopoietic precursors
- (2009) F. M. Perez-Campo et al. BLOOD
- Moz and Retinoic Acid Coordinately Regulate H3K9 Acetylation, Hox Gene Expression, and Segment Identity
- (2009) Anne K. Voss et al. DEVELOPMENTAL CELL
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started