Related references
Note: Only part of the references are listed.A Transcriptome-Based Drug Discovery Paradigm for Neurodevelopmental Disorders
Ryan S. Dhindsa et al.
ANNALS OF NEUROLOGY (2021)
Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning
Dimitrios Vitsios et al.
NATURE COMMUNICATIONS (2021)
Highly accurate protein structure prediction with AlphaFold
John Jumper et al.
NATURE (2021)
In silico saturation mutagenesis of cancer genes
Ferran Muinos et al.
NATURE (2021)
Rare variant contribution to human disease in 281,104 UK Biobank exomes
Quanli Wang et al.
NATURE (2021)
OncoVar: an integrated database and analysis platform for oncogenic driver variants in cancers
Tao Wang et al.
NUCLEIC ACIDS RESEARCH (2021)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Natural Selection Shapes Codon Usage in the Human Genome
Ryan S. Dhindsa et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2020)
Evidence for 28 genetic disorders discovered by combining healthcare and research data
Joanna Kaplanis et al.
NATURE (2020)
Inherited causes of clonal haematopoiesis in 97,691 whole genomes
Alexander G. Bick et al.
NATURE (2020)
A compendium of mutational cancer driver genes
Francisco Martinez-Jimenez et al.
NATURE REVIEWS CANCER (2020)
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
Yen-Chen Anne Feng et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Ranking of non-coding pathogenic variants and putative essential regions of the human genome
Alex Wells et al.
NATURE COMMUNICATIONS (2019)
Structural basis for DNMT3A-mediated de novo DNA methylation
Zhi-Min Zhang et al.
NATURE (2018)
Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations
David Tamborero et al.
GENOME MEDICINE (2018)
The UK Biobank resource with deep phenotyping and genomic data
Clare Bycroft et al.
NATURE (2018)
Acute Myeloid Leukemia-Associated DNMT3A p.Arg882His Mutation in a Patient with Tatton-Brown-Rahman Overgrowth Syndrome as a Constitutional Mutation
Rika Kosaki et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation
Joshua Traynelis et al.
GENOME RESEARCH (2017)
Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data
Yi-Fei Huang et al.
NATURE GENETICS (2017)
Comparison of algorithms for the detection of cancer drivers at subgene resolution
Eduard Porta-Pardo et al.
NATURE METHODS (2017)
Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease
S. Jaiswal et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics
Ayal B. Gussow et al.
PLOS ONE (2017)
Implementing Genome-Driven Oncology
David M. Hyman et al.
CELL (2017)
Zinc-finger proteins in health and disease
Matteo Cassandri et al.
CELL DEATH DISCOVERY (2017)
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures
Slave Petrovski et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
Nilah M. Ioannidis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Mutations in G protein beta subunits promote transformation and kinase inhibitor resistance
Akinori Yoda et al.
NATURE MEDICINE (2015)
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
Joanna S. Amberger et al.
NUCLEIC ACIDS RESEARCH (2015)
Synaptic, transcriptional and chromatin genes disrupted in autism
Silvia De Rubeis et al.
NATURE (2014)
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
Katrina Tatton-Brown et al.
NATURE GENETICS (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
A framework for the interpretation of de novo mutation in human disease
Kaitlin E. Samocha et al.
NATURE GENETICS (2014)
Prioritization of neurodevelopmental disease genes by discovery of new mutations
Alexander Hoischen et al.
NATURE NEUROSCIENCE (2014)
Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes
Siddhartha Jaiswal et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
The Ubiquitin Ligase FBXW7 Modulates Leukemia-Initiating Cell Activity by Regulating MYC Stability
Bryan King et al.
CELL (2013)
Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
Slave Petrovski et al.
PLOS GENETICS (2013)
Mutations in EZH2 Cause Weaver Syndrome
William T. Gibson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3
Pablo Cingolani et al.
FLY (2012)
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
Alexander Hoischen et al.
NATURE GENETICS (2011)
Detection of nonneutral substitution rates on mammalian phylogenies
Katherine S. Pollard et al.
GENOME RESEARCH (2010)
A restricted spectrum of NRAS mutations causes Noonan syndrome
Ion C. Cirstea et al.
NATURE GENETICS (2010)
Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations
Kazuyuki Matsuda et al.
BLOOD (2007)
NRAS mutation causes a human autoimmune lymphoproliferative syndrome
Joao B. Oliveira et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)