Whole exome sequencing reveals de novo pathogenic variants inKAT6Aas a cause of a neurodevelopmental disorder
出版年份 2016 全文链接
标题
Whole exome sequencing reveals de novo pathogenic variants inKAT6Aas a cause of a neurodevelopmental disorder
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 170, Issue 7, Pages 1791-1798
出版商
Wiley
发表日期
2016-05-02
DOI
10.1002/ajmg.a.37670
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。- 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
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Neural Crest Development and Craniofacial Morphogenesis Is Coordinated by Nitric Oxide and Histone Acetylation
- (2014) Yawei Kong et al. CHEMISTRY & BIOLOGY
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
- (2014) Yaping Yang et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Making headway with genetic diagnostics of intellectual disabilities
- (2013) M.H. Willemsen et al. CLINICAL GENETICS
- The MYSTerious MOZ, a histone acetyltransferase with a key role in haematopoiesis
- (2013) Flor M. Perez-Campo et al. IMMUNOLOGY
- De novo mutations in histone-modifying genes in congenital heart disease
- (2013) Samir Zaidi et al. NATURE
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
- (2013) Yaping Yang et al. NEW ENGLAND JOURNAL OF MEDICINE
- Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes
- (2013) Xin He et al. PLoS Genetics
- Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
- (2013) Slavé Petrovski et al. PLoS Genetics
- De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome
- (2012) Michael A. Simpson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- MOZ Regulates the Tbx1 Locus, and Moz Mutation Partially Phenocopies DiGeorge Syndrome
- (2012) Anne K. Voss et al. DEVELOPMENTAL CELL
- A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease
- (2012) C S Ku et al. MOLECULAR PSYCHIATRY
- Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
- (2012) David A Koolen et al. NATURE GENETICS
- De novo mutations in human genetic disease
- (2012) Joris A. Veltman et al. NATURE REVIEWS GENETICS
- Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
- (2012) Joep de Ligt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia
- (2011) Asli Sirmaci et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- Human Genome Sequencing in Health and Disease
- (2011) Claudia Gonzaga-Jauregui et al. Annual Review of Medicine
- Evidence Report: Genetic and metabolic testing on children with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
- (2011) D. J. Michelson et al. NEUROLOGY
- Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype
- (2010) Simone Martinelli et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The prevalence of mental retardation: a critical review of recent literature
- (2010) Nel Roeleveld et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- The genetic basis of non-syndromic intellectual disability: a review
- (2010) Liana Kaufman et al. Journal of Neurodevelopmental Disorders
- Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia
- (2010) Charlotte M Niemeyer et al. NATURE GENETICS
- A de novo paradigm for mental retardation
- (2010) Lisenka E L M Vissers et al. NATURE GENETICS
- MYST family histone acetyltransferases take center stage in stem cells and development
- (2009) Anne K. Voss et al. BIOESSAYS
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Moz and Retinoic Acid Coordinately Regulate H3K9 Acetylation, Hox Gene Expression, and Segment Identity
- (2009) Anne K. Voss et al. DEVELOPMENTAL CELL
- The multidomain protein Brpf1 binds histones and is required for Hox gene expression and segmental identity
- (2008) K. Laue et al. DEVELOPMENT
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