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

Michelanglo: sculpting protein views on web pages without coding

(2020) Matteo P Ferla et al.   BIOINFORMATICS

A structural variation reference for medical and population genetics

(2020) Ryan L. Collins et al.   NATURE

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

(2020) Konrad J. Karczewski et al.   NATURE

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

(2020) Nicola Whiffin et al.   Nature Communications

Expanded encyclopaedias of DNA elements in the human and mouse genomes

(2020) Jill E. Moore et al.   NATURE

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

(2020) Joanna Kaplanis et al.   NATURE

The GTEx Consortium atlas of genetic regulatory effects across human tissues

(2020)   SCIENCE

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

(2019) Anja Thormann et al.   Nature Communications

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

(2019) Siddharth Srivastava et al.   GENETICS IN MEDICINE

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

(2019) Paul J. Sample et al.   NATURE BIOTECHNOLOGY

Understanding Neurodevelopmental Disorders: The Promise of Regulatory Variation in the 3′UTRome

(2018) Kai A. Wanke et al.   BIOLOGICAL PSYCHIATRY

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

(2018) Xiao Lei et al.   JOURNAL OF MOLECULAR BIOLOGY

De novo mutations in regulatory elements in neurodevelopmental disorders

(2018) Patrick J. Short et al.   NATURE

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

(2018) Eva D’haene et al.   HUMAN MOLECULAR GENETICS

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

(2018) Joon-Yong An et al.   SCIENCE

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

(2017) Rebecca F. Alford et al.   Journal of Chemical Theory and Computation

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

(2017) P Devanna et al.   MOLECULAR PSYCHIATRY

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

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

(2017) Kathrin Leppek et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

(2017) Mohnish Suri et al.   Molecular Genetics & Genomic Medicine

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

(2016) Malte Spielmann et al.   HUMAN MOLECULAR GENETICS

The SWISS-MODEL Repository—new features and functionality

(2016) Stefan Bienert et al.   NUCLEIC ACIDS RESEARCH

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

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

The Ensembl Regulatory Build

(2015) Daniel R Zerbino et al.   GENOME BIOLOGY

Quantitative analysis of mammalian translation initiation sites by FACS-seq

(2014) W. L. Noderer et al.   Molecular Systems Biology

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

A promoter-level mammalian expression atlas

(2014)   NATURE

Insights into RNA structure and function from genome-wide studies

(2014) Stefanie A. Mortimer et al.   NATURE REVIEWS GENETICS

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

(2014) Daniel Backenroth et al.   NUCLEIC ACIDS RESEARCH

DeNovoGear: de novo indel and point mutation discovery and phasing

(2013) Avinash Ramu et al.   NATURE METHODS

Relaxation of backbone bond geometry improves protein energy landscape modeling

(2013) Patrick Conway et al.   PROTEIN SCIENCE

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

(2012) Menachem Fromer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Patricia R. Araujo et al.   COMPARATIVE AND FUNCTIONAL GENOMICS

Refining the phenotype associated with MEF2C point mutations

(2012) Thierry Bienvenu et al.   NEUROGENETICS

RosettaRemodel: A Generalized Framework for Flexible Backbone Protein Design

(2011) Po-Ssu Huang et al.   PLoS One

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

(2010) S. Chaudhury et al.   BIOINFORMATICS

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

(2010) Markus Zweier et al.   HUMAN MUTATION

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

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2009) Sangeeta Chatterjee et al.   BIOLOGY OF THE CELL

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

(2009) Renata L L Ferreira de Lima et al.   GENETICS IN MEDICINE

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

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