4.7 Article

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

Related references

Note: Only part of the references are listed.
Article Biochemical Research Methods

MichelaNglo: sculpting protein views on web pages without coding

Matteo P. Ferla et al.

BIOINFORMATICS (2020)

Article Multidisciplinary Sciences

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals

Nicola Whiffin et al.

NATURE COMMUNICATIONS (2020)

Article Multidisciplinary Sciences

A structural variation reference for medical and population genetics

Ryan L. Collins et al.

NATURE (2020)

Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

Article Multidisciplinary Sciences

Expanded encyclopaedias of DNA elements in the human and mouse genomes

Jill E. Moore et al.

NATURE (2020)

Article Multidisciplinary Sciences

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis et al.

NATURE (2020)

Article Multidisciplinary Sciences

The GTEx Consortium atlas of genetic regulatory effects across human tissues

Francois Aguet et al.

SCIENCE (2020)

Article Multidisciplinary Sciences

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

Anja Thormann et al.

NATURE COMMUNICATIONS (2019)

Article Biotechnology & Applied Microbiology

Human 5′ UTR design and variant effect prediction from a massively parallel translation assay

Paul J. Sample et al.

NATURE BIOTECHNOLOGY (2019)

Article Biochemistry & Molecular Biology

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics

Eva D'haene et al.

HUMAN MOLECULAR GENETICS (2019)

Article Biochemistry & Molecular Biology

Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders

P. Devanna et al.

MOLECULAR PSYCHIATRY (2018)

Review Cell Biology

Functional 5′ UTR mRNA structures in eukaryotic translation regulation and how to find them

Kathrin Leppek et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2018)

Article Biochemistry & Molecular Biology

The Cancer Mutation D83V induces an α-Helix to β-Strand Conformation Switch in MEF2B

Xiao Lei et al.

JOURNAL OF MOLECULAR BIOLOGY (2018)

Article Multidisciplinary Sciences

De novo mutations in regulatory elements in neurodevelopmental disorders

Patrick J. Short et al.

NATURE (2018)

Article Biochemistry & Molecular Biology

The SWISS-MODEL Repository-new features and functionality

Stefan Bienert et al.

NUCLEIC ACIDS RESEARCH (2017)

Article Chemistry, Physical

The Rosetta All-Atom Energy Function for Macromolecular Modeling and Design

Rebecca F. Alford et al.

JOURNAL OF CHEMICAL THEORY AND COMPUTATION (2017)

Article Multidisciplinary Sciences

Prevalence and architecture of de novo mutations in developmental disorders

Jeremy F. McRae et al.

NATURE (2017)

Article Genetics & Heredity

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1

Mohnish Suri et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2017)

Article Biochemistry & Molecular Biology

ClinVar: public archive of interpretations of clinically relevant variants

Melissa J. Landrum et al.

NUCLEIC ACIDS RESEARCH (2016)

Review Biochemistry & Molecular Biology

Looking beyond the genes: the role of non-coding variants in human disease

Malte Spielmann et al.

HUMAN MOLECULAR GENETICS (2016)

Article Biotechnology & Applied Microbiology

The Ensembl Variant Effect Predictor

William McLaren et al.

GENOME BIOLOGY (2016)

Review Genetics & Heredity

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Jessica X. Chong et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Article Biotechnology & Applied Microbiology

The Ensembl Regulatory Build

Daniel R. Zerbino et al.

GENOME BIOLOGY (2015)

Article Multidisciplinary Sciences

Large-scale discovery of novel genetic causes of developmental disorders

T. W. Fitzgerald et al.

NATURE (2015)

Article Biochemistry & Molecular Biology

Quantitative analysis of mammalian translation initiation sites by FACS-seq

William L. Noderer et al.

MOLECULAR SYSTEMS BIOLOGY (2014)

Article Multidisciplinary Sciences

A promoter-level mammalian expression atlas

Alistair R. R. Forrest et al.

NATURE (2014)

Review Genetics & Heredity

Insights into RNA structure and function from genome-wide studies

Stefanie A. Mortimer et al.

NATURE REVIEWS GENETICS (2014)

Article Biochemistry & Molecular Biology

CANOES: detecting rare copy number variants from whole exome sequencing data

Daniel Backenroth et al.

NUCLEIC ACIDS RESEARCH (2014)

Article Biochemistry & Molecular Biology

Relaxation of backbone bond geometry improves protein energy landscape modeling

Patrick Conway et al.

PROTEIN SCIENCE (2014)

Article Biochemical Research Methods

DeNovoGear: de novo indel and point mutation discovery and phasing

Avinash Ramu et al.

NATURE METHODS (2013)

Article Genetics & Heredity

Refining the phenotype associated with MEF2C point mutations

Thierry Bienvenu et al.

NEUROGENETICS (2013)

Article Genetics & Heredity

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

Menachem Fromer et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Review Biochemistry & Molecular Biology

Before It Gets Started: Regulating Translation at the 5′ UTR

Patricia R. Araujo et al.

COMPARATIVE AND FUNCTIONAL GENOMICS (2012)

Article Multidisciplinary Sciences

RosettaRemodel: A Generalized Framework for Flexible Backbone Protein Design

Po-Ssu Huang et al.

PLOS ONE (2011)

Article Biochemical Research Methods

PyRosetta: a script-based interface for implementing molecular modeling algorithms using Rosetta

Sidhartha Chaudhury et al.

BIOINFORMATICS (2010)

Article Genetics & Heredity

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Helen V. Firth et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2009)

Review Cell Biology

Role of 5 '- and 3 '-untranslated regions of mRNAs in human diseases

Sangeeta Chatterjee et al.

BIOLOGY OF THE CELL (2009)

Review Developmental Biology

MEF2: a central regulator of diverse developmental programs

Matthew J. Potthoff et al.

DEVELOPMENT (2007)

Article Genetics & Heredity

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)

Article Biochemistry & Molecular Biology

Activation of MEF2 by muscle activity is mediated through a calcineurin-dependent pathway

H Wu et al.

EMBO JOURNAL (2001)

Article Biochemistry & Molecular Biology

Crystal structure of MEF2A core bound to DNA at 1.5 Å resolution

E Santelli et al.

JOURNAL OF MOLECULAR BIOLOGY (2000)