Related references
Note: Only part of the references are listed.MichelaNglo: sculpting protein views on web pages without coding
Matteo P. Ferla et al.
BIOINFORMATICS (2020)
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals
Nicola Whiffin et al.
NATURE COMMUNICATIONS (2020)
A structural variation reference for medical and population genetics
Ryan L. Collins et al.
NATURE (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Expanded encyclopaedias of DNA elements in the human and mouse genomes
Jill E. Moore et al.
NATURE (2020)
Evidence for 28 genetic disorders discovered by combining healthcare and research data
Joanna Kaplanis et al.
NATURE (2020)
The GTEx Consortium atlas of genetic regulatory effects across human tissues
Francois Aguet et al.
SCIENCE (2020)
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
Anja Thormann et al.
NATURE COMMUNICATIONS (2019)
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
Siddharth Srivastava et al.
GENETICS IN MEDICINE (2019)
Human 5′ UTR design and variant effect prediction from a massively parallel translation assay
Paul J. Sample et al.
NATURE BIOTECHNOLOGY (2019)
A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics
Eva D'haene et al.
HUMAN MOLECULAR GENETICS (2019)
Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders
P. Devanna et al.
MOLECULAR PSYCHIATRY (2018)
Functional 5′ UTR mRNA structures in eukaryotic translation regulation and how to find them
Kathrin Leppek et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2018)
Understanding Neurodevelopmental Disorders: The Promise of Regulatory Variation in the 3′UTRome
Kai A. Wanke et al.
BIOLOGICAL PSYCHIATRY (2018)
The Cancer Mutation D83V induces an α-Helix to β-Strand Conformation Switch in MEF2B
Xiao Lei et al.
JOURNAL OF MOLECULAR BIOLOGY (2018)
De novo mutations in regulatory elements in neurodevelopmental disorders
Patrick J. Short et al.
NATURE (2018)
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder
Joon-Yong An et al.
SCIENCE (2018)
The SWISS-MODEL Repository-new features and functionality
Stefan Bienert et al.
NUCLEIC ACIDS RESEARCH (2017)
The Rosetta All-Atom Energy Function for Macromolecular Modeling and Design
Rebecca F. Alford et al.
JOURNAL OF CHEMICAL THEORY AND COMPUTATION (2017)
Prevalence and architecture of de novo mutations in developmental disorders
Jeremy F. McRae et al.
NATURE (2017)
Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1
Mohnish Suri et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2017)
Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements
Irena Vrecar et al.
JOURNAL OF PEDIATRIC GENETICS (2017)
ClinVar: public archive of interpretations of clinically relevant variants
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2016)
Looking beyond the genes: the role of non-coding variants in human disease
Malte Spielmann et al.
HUMAN MOLECULAR GENETICS (2016)
Human splicing diversity and the extent of unannotated splice junctions across human RNA-seq samples on the Sequence Read Archive
Abhinav Nellore et al.
GENOME BIOLOGY (2016)
The Ensembl Variant Effect Predictor
William McLaren et al.
GENOME BIOLOGY (2016)
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Jessica X. Chong et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
The Ensembl Regulatory Build
Daniel R. Zerbino et al.
GENOME BIOLOGY (2015)
Large-scale discovery of novel genetic causes of developmental disorders
T. W. Fitzgerald et al.
NATURE (2015)
Quantitative analysis of mammalian translation initiation sites by FACS-seq
William L. Noderer et al.
MOLECULAR SYSTEMS BIOLOGY (2014)
A promoter-level mammalian expression atlas
Alistair R. R. Forrest et al.
NATURE (2014)
Insights into RNA structure and function from genome-wide studies
Stefanie A. Mortimer et al.
NATURE REVIEWS GENETICS (2014)
CANOES: detecting rare copy number variants from whole exome sequencing data
Daniel Backenroth et al.
NUCLEIC ACIDS RESEARCH (2014)
Relaxation of backbone bond geometry improves protein energy landscape modeling
Patrick Conway et al.
PROTEIN SCIENCE (2014)
DeNovoGear: de novo indel and point mutation discovery and phasing
Avinash Ramu et al.
NATURE METHODS (2013)
Refining the phenotype associated with MEF2C point mutations
Thierry Bienvenu et al.
NEUROGENETICS (2013)
Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
Menachem Fromer et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Before It Gets Started: Regulating Translation at the 5′ UTR
Patricia R. Araujo et al.
COMPARATIVE AND FUNCTIONAL GENOMICS (2012)
RosettaRemodel: A Generalized Framework for Flexible Backbone Protein Design
Po-Ssu Huang et al.
PLOS ONE (2011)
PyRosetta: a script-based interface for implementing molecular modeling algorithms using Rosetta
Sidhartha Chaudhury et al.
BIOINFORMATICS (2010)
Mutations in MEF2C from the 5q14.3q15 Microdeletion Syndrome Region Are a Frequent Cause of Severe Mental Retardation and Diminish MECP2 and CDKL5 Expression
Markus Zweier et al.
HUMAN MUTATION (2010)
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
N. Le Meur et al.
JOURNAL OF MEDICAL GENETICS (2010)
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Helen V. Firth et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Role of 5 '- and 3 '-untranslated regions of mRNAs in human diseases
Sangeeta Chatterjee et al.
BIOLOGY OF THE CELL (2009)
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
Renata. L. L. Ferreira de Lima et al.
GENETICS IN MEDICINE (2009)
MEF2: a central regulator of diverse developmental programs
Matthew J. Potthoff et al.
DEVELOPMENT (2007)
Mutations in the 3′-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD)
Stella Marie Reamon-Buettner et al.
BMC MEDICAL GENETICS (2007)
Activation of MEF2 by muscle activity is mediated through a calcineurin-dependent pathway
H Wu et al.
EMBO JOURNAL (2001)
A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome
CL Bennett et al.
IMMUNOGENETICS (2001)
Crystal structure of MEF2A core bound to DNA at 1.5 Å resolution
E Santelli et al.
JOURNAL OF MOLECULAR BIOLOGY (2000)