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。Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes
Friederike Ehrhart et al.
WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY (2020)
A Generic Workflow for the Data FAIRification Process
Annika Jacobsen et al.
DATA INTELLIGENCE (2020)
Making FAIR Easy with FAIR Tools: From Creolization to Convergence
Mark Thompson et al.
DATA INTELLIGENCE (2020)
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Lucilla Pizzo et al.
GENETICS IN MEDICINE (2019)
MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases
Gillian S. Townend et al.
HUMAN MUTATION (2018)
Transcriptome level analysis in Rett syndrome using human samples from different tissues
Stephen Shovlin et al.
ORPHANET JOURNAL OF RARE DISEASES (2018)
RettBASE: Rett syndrome database update
Rahul Krishnaraj et al.
HUMAN MUTATION (2017)
Radically truncated MeCP2 rescues Rett syndromelike neurological defects
Rebekah Tillotson et al.
NATURE (2017)
ClinVar: public archive of interpretations of clinically relevant variants
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2016)
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
Xiaoming Liu et al.
HUMAN MUTATION (2016)
Homozygous c.1.160C>T (P38L) in the MECP2 gene in a female Rett syndrome patient
Aparna A. Bhanushali et al.
JOURNAL OF CLINICAL NEUROSCIENCE (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases
Rong Chen et al.
NATURE BIOTECHNOLOGY (2016)
Comment: The FAIR Guiding Principles for scientific data management and stewardship
Mark D. Wilkinson et al.
SCIENTIFIC DATA (2016)
The Ensembl Variant Effect Predictor
William McLaren et al.
GENOME BIOLOGY (2016)
An integrative approach to predicting the functional effects of non-coding and coding sequence variation
Hashem A. Shihab et al.
BIOINFORMATICS (2015)
MECP2 disorders: from the clinic to mice and back
Laura Marie Lombardi et al.
JOURNAL OF CLINICAL INVESTIGATION (2015)
Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
Chengliang Dong et al.
HUMAN MOLECULAR GENETICS (2015)
5-Hydroxymethylcytosine and disease
Jingyu Wang et al.
MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Rett syndrome and the urge of novel approaches to study MeCP2 functions and mechanisms of action
Francesco Bedogni et al.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2014)
Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice
Laura Dean Heckman et al.
ELIFE (2014)
Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: Report of two novel mutations
Dhanjit Kumar Das et al.
GENE (2013)
SIFT web server: predicting effects of amino acid substitutions on proteins
Ngak-Leng Sim et al.
NUCLEIC ACIDS RESEARCH (2012)
LOVD v.2.0: The Next Generation in Gene Variant Databases
Ivo F. A. C. Fokkema et al.
HUMAN MUTATION (2011)
Rett Syndrome Diagnostic Criteria: Lessons from the Natural History Study
Alan K. Percy et al.
ANNALS OF NEUROLOGY (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Helen V. Firth et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Rett syndrome-causing mutations in human MeCP2 result in diverse structural changes that impact folding and DNA interactions
Rajarshi P. Ghosh et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome
J. L. Neul et al.
NEUROLOGY (2008)
Improving sequence variant descriptions in mutation Databases and literature using the mutalyzer sequence variation nomenclature checker
Martin Wildeman et al.
HUMAN MUTATION (2008)
Rett syndrome: North American database
Alan K. Percy et al.
JOURNAL OF CHILD NEUROLOGY (2007)
Intrinsic disorder and autonomous domain function in the multifunctional nuclear protein, MeCP2
Valerie H. Adams et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Rett syndrome in Australia: A review of the epidemiology
CL Laurvick et al.
JOURNAL OF PEDIATRICS (2006)
The impact of MECP2 mutations in the expression patterns of Rett syndrome patients
E Ballestar et al.
HUMAN GENETICS (2005)
RettBASE:: The IRSA MECP2 variation data-base -: A new mutation database in evolution
J Christodoulou et al.
HUMAN MUTATION (2003)
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype
LS Weaving et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Cytoscape: A software environment for integrated models of biomolecular interaction networks
P Shannon et al.
GENOME RESEARCH (2003)
Spectrum of MECP2 mutations in Rett syndrome
T Bienvenu et al.
GENETIC TESTING (2002)
Preserved speech variants of the Rett syndrome: Molecular and clinical analysis
M Zappella et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features
M Auranen et al.
NEUROLOGY (2001)
MECP2 mutations in Danish patients with Rett syndrome:: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern
JB Nielsen et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2001)
Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA
E Ballestar et al.
BIOCHEMISTRY (2000)
Rett syndrome:: analysis of MECP2 and clinical characterization of 31 patients
P Huppke et al.
HUMAN MOLECULAR GENETICS (2000)
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients:: correlation of disease severity with mutation type and location
JP Cheadle et al.
HUMAN MOLECULAR GENETICS (2000)
分享论文
