- Home
- Publications
- Publication Search
- Publication Details
Title
A brief history of human disease genetics
Authors
Keywords
-
Journal
NATURE
Volume 577, Issue 7789, Pages 179-189
Publisher
Springer Science and Business Media LLC
Online
2020-01-09
DOI
10.1038/s41586-019-1879-7
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
- (2019) Caroline F. Wright et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Predicting Splicing from Primary Sequence with Deep Learning
- (2019) Kishore Jaganathan et al. CELL
- A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens
- (2019) Molly Gasperini et al. CELL
- Whole Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized with Early-Onset Myocardial Infarction
- (2019) Amit V. Khera et al. CIRCULATION
- Highly efficient therapeutic gene editing of human hematopoietic stem cells
- (2019) Yuxuan Wu et al. NATURE MEDICINE
- Causal relationships among the gut microbiome, short-chain fatty acids and metabolic diseases
- (2019) Serena Sanna et al. NATURE GENETICS
- Clinical use of current polygenic risk scores may exacerbate health disparities
- (2019) Alicia R. Martin et al. NATURE GENETICS
- A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers
- (2019) Kym M. Boycott et al. CELL
- Personalized Medicine and the Power of Electronic Health Records
- (2019) Noura S. Abul-Husn et al. CELL
- The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
- (2019) GENETICS IN MEDICINE
- Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients
- (2019) Allison W. Kurian et al. JOURNAL OF CLINICAL ONCOLOGY
- Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls
- (2019) Jason Flannick et al. NATURE
- Chromatin three-dimensional interactions mediate genetic effects on gene expression
- (2019) O. Delaneau et al. SCIENCE
- Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
- (2019) Michelle M. Clark et al. Science Translational Medicine
- An atlas of polygenic risk score associations to highlight putative causal relationships across the human phenome
- (2019) Tom G Richardson et al. eLife
- Genetic analyses of diverse populations improves discovery for complex traits
- (2019) Genevieve L. Wojcik et al. NATURE
- Optical Pooled Screens in Human Cells
- (2019) David Feldman et al. CELL
- Activity-by-contact model of enhancer–promoter regulation from thousands of CRISPR perturbations
- (2019) Charles P. Fulco et al. NATURE GENETICS
- Perspective on Oncogenic Processes at the End of the Beginning of Cancer Genomics
- (2018) Li Ding et al. CELL
- Research Directions in the Clinical Implementation of Pharmacogenomics: An Overview of US Programs and Projects
- (2018) Simona Volpi et al. CLINICAL PHARMACOLOGY & THERAPEUTICS
- Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?
- (2018) Jan M. Friedman et al. GENETICS IN MEDICINE
- Direct-to-Consumer Testing 2.0: Emerging Models of Direct-to-Consumer Genetic Testing
- (2018) Megan A. Allyse et al. MAYO CLINIC PROCEEDINGS
- Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition
- (2018) Kerrin S. Small et al. NATURE GENETICS
- Signatures of negative selection in the genetic architecture of human complex traits
- (2018) Jian Zeng et al. NATURE GENETICS
- Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation
- (2018) Eric R. Gamazon et al. NATURE GENETICS
- Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases
- (2018) Masahiro Kanai et al. NATURE GENETICS
- Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes
- (2018) Niels Grarup et al. NATURE GENETICS
- Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types
- (2018) Hilary K. Finucane et al. NATURE GENETICS
- APOE4 Causes Widespread Molecular and Cellular Alterations Associated with Alzheimer’s Disease Phenotypes in Human iPSC-Derived Brain Cell Types
- (2018) Yuan-Ta Lin et al. NEURON
- A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease
- (2018) Noura S. Abul-Husn et al. NEW ENGLAND JOURNAL OF MEDICINE
- Genetic risk for Alzheimer’s disease is concentrated in specific macrophage and microglial transcriptional networks
- (2018) Katherine E. Tansey et al. Genome Medicine
- Association of Attending Surgeon With Variation in the Receipt of Genetic Testing After Diagnosis of Breast Cancer
- (2018) Steven J. Katz et al. JAMA Surgery
- KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
- (2018) Joanna Kennedy et al. GENETICS IN MEDICINE
- Genomic atlas of the human plasma proteome
- (2018) Benjamin B. Sun et al. NATURE
- Accurate classification of BRCA1 variants with saturation genome editing
- (2018) Gregory M. Findlay et al. NATURE
- De novo mutations in regulatory elements in neurodevelopmental disorders
- (2018) Patrick J. Short et al. NATURE
- Biobank-driven genomic discovery yields new insight into atrial fibrillation biology
- (2018) Jonas B. Nielsen et al. NATURE GENETICS
- Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations
- (2018) Amit V. Khera et al. NATURE GENETICS
- Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk
- (2018) Stephane E. Castel et al. NATURE GENETICS
- Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: A soft clustering analysis
- (2018) Miriam S. Udler et al. PLOS MEDICINE
- Understanding disease progression and improving Alzheimer's disease clinical trials: Recent highlights from the Alzheimer's Disease Neuroimaging Initiative
- (2018) Dallas P. Veitch et al. Alzheimers & Dementia
- Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits
- (2018) Malika Kumar Freund et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History
- (2018) Siyang Liu et al. CELL
- ClinGen advancing genomic data-sharing standards as a GA4GH driver project
- (2018) Lena Dolman et al. HUMAN MUTATION
- The UK Biobank resource with deep phenotyping and genomic data
- (2018) Clare Bycroft et al. NATURE
- Somatic APP gene recombination in Alzheimer’s disease and normal neurons
- (2018) Ming-Hsiang Lee et al. NATURE
- Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
- (2018) Anubha Mahajan et al. NATURE GENETICS
- Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
- (2018) Kimberly Splinter et al. NEW ENGLAND JOURNAL OF MEDICINE
- The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
- (2018) Annalisa Buniello et al. NUCLEIC ACIDS RESEARCH
- Genomic sequencing in cystic fibrosis newborn screening: what works best, two-tier predefined CFTR mutation panels or second-tier CFTR panel followed by third-tier sequencing?
- (2017) Robert J Currier et al. GENETICS IN MEDICINE
- Overview of the BioBank Japan Project: Study design and profile
- (2017) Akiko Nagai et al. JOURNAL OF EPIDEMIOLOGY
- Path toward Precision Oncology: Review of Targeted Therapy Studies and Tools to Aid in Defining “Actionability” of a Molecular Lesion and Patient Management Support
- (2017) Young Kwang Chae et al. MOLECULAR CANCER THERAPEUTICS
- Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
- (2017) Danish Saleheen et al. NATURE
- Genetic effects on gene expression across human tissues
- (2017) François Aguet et al. NATURE
- Estimating the causal tissues for complex traits and diseases
- (2017) Halit Ongen et al. NATURE GENETICS
- Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease
- (2017) Katrina M de Lange et al. NATURE GENETICS
- Pooled CRISPR screening with single-cell transcriptome readout
- (2017) Paul Datlinger et al. NATURE METHODS
- Prioritizing diversity in human genomics research
- (2017) Lucia A. Hindorff et al. NATURE REVIEWS GENETICS
- Chimeric Antigen Receptor T Cells in Refractory B-Cell Lymphomas
- (2017) Stephen J. Schuster et al. NEW ENGLAND JOURNAL OF MEDICINE
- Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease
- (2017) Siddhartha Jaiswal et al. NEW ENGLAND JOURNAL OF MEDICINE
- Genome-wide CRISPR screen for PARKIN regulators reveals transcriptional repression as a determinant of mitophagy
- (2017) Christoph Potting et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
- (2017) Beryl B. Cummings et al. Science Translational Medicine
- Lessons learned from additional research analyses of unsolved clinical exome cases
- (2017) Mohammad K. Eldomery et al. Genome Medicine
- The Human Cell Atlas
- (2017) Aviv Regev et al. eLife
- The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
- (2016) William J. Astle et al. CELL
- Perturb-Seq: Dissecting Molecular Circuits with Scalable Single-Cell RNA Profiling of Pooled Genetic Screens
- (2016) Atray Dixit et al. CELL
- Basset: learning the regulatory code of the accessible genome with deep convolutional neural networks
- (2016) David R. Kelley et al. GENOME RESEARCH
- Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage
- (2016) Alexis C. Komor et al. NATURE
- The genetic architecture of type 2 diabetes
- (2016) Christian Fuchsberger et al. NATURE
- Schizophrenia risk from complex variation of complement component 4
- (2016) Aswin Sekar et al. NATURE
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- A reference panel of 64,976 haplotypes for genotype imputation
- (2016) NATURE GENETICS
- Delivering widespread BRCA testing and PARP inhibition to patients with ovarian cancer
- (2016) Angela George et al. Nature Reviews Clinical Oncology
- Towards precision medicine
- (2016) Euan A. Ashley NATURE REVIEWS GENETICS
- VariantASGR1Associated with a Reduced Risk of Coronary Artery Disease
- (2016) Paul Nioi et al. NEW ENGLAND JOURNAL OF MEDICINE
- Health and population effects of rare gene knockouts in adult humans with related parents
- (2016) V. M. Narasimhan et al. SCIENCE
- Exposing the exposures responsible for type 2 diabetes and obesity
- (2016) P. W. Franks et al. SCIENCE
- Quantifying prion disease penetrance using large population control cohorts
- (2016) Eric Vallabh Minikel et al. Science Translational Medicine
- Resolving TYK2 locus genotype-to-phenotype differences in autoimmunity
- (2016) C. A. Dendrou et al. Science Translational Medicine
- The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
- (2015) Jessica X. Chong et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Century of Cholesterol and Coronaries: From Plaques to Genes to Statins
- (2015) Joseph L. Goldstein et al. CELL
- Integrative analysis of 111 reference human epigenomes
- (2015) Anshul Kundaje et al. NATURE
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- The support of human genetic evidence for approved drug indications
- (2015) Matthew R Nelson et al. NATURE GENETICS
- An atlas of genetic correlations across human diseases and traits
- (2015) Brendan Bulik-Sullivan et al. NATURE GENETICS
- Predicting effects of noncoding variants with deep learning–based sequence model
- (2015) Jian Zhou et al. NATURE METHODS
- A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease
- (2015) Kristina Bečanović et al. NATURE NEUROSCIENCE
- Knocking down disease: a progress report on siRNA therapeutics
- (2015) Anders Wittrup et al. NATURE REVIEWS GENETICS
- FTO Obesity Variant Circuitry and Adipocyte Browning in Humans
- (2015) Melina Claussnitzer et al. NEW ENGLAND JOURNAL OF MEDICINE
- ClinGen — The Clinical Genome Resource
- (2015) Heidi L. Rehm et al. NEW ENGLAND JOURNAL OF MEDICINE
- A New Initiative on Precision Medicine
- (2015) Francis S. Collins et al. NEW ENGLAND JOURNAL OF MEDICINE
- Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss
- (2015) A. Eliot Shearer et al. OTOLARYNGOLOGY-HEAD AND NECK SURGERY
- Unraveling the 3D genome: genomics tools for multiscale exploration
- (2015) Viviana I. Risca et al. TRENDS IN GENETICS
- Permanent Alteration of PCSK9 With In Vivo CRISPR-Cas9 Genome Editing
- (2014) Qiurong Ding et al. CIRCULATION RESEARCH
- Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories
- (2014) Djie Tjwan Thung et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
- (2014) Yaping Yang et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Large-scale discovery of novel genetic causes of developmental disorders
- (2014) T. W. Fitzgerald et al. NATURE
- Guidelines for investigating causality of sequence variants in human disease
- (2014) D. G. MacArthur et al. NATURE
- Obesity-associated variants within FTO form long-range functional connections with IRX3
- (2014) Scott Smemo et al. NATURE
- Genetic and epigenetic fine mapping of causal autoimmune disease variants
- (2014) Kyle Kai-How Farh et al. NATURE
- A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes
- (2014) Ida Moltke et al. NATURE
- Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
- (2014) Jason Flannick et al. NATURE GENETICS
- An atlas of genetic influences on human blood metabolites
- (2014) So-Youn Shin et al. NATURE GENETICS
- OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
- (2014) Joanna S. Amberger et al. NUCLEIC ACIDS RESEARCH
- Noninvasive Prenatal Testing
- (2014) Jamie O. Lo et al. OBSTETRICAL & GYNECOLOGICAL SURVEY
- Enabling the genomic revolution in Africa
- (2014) et al. SCIENCE
- Innate Immune Activity Conditions the Effect of Regulatory Variants upon Monocyte Gene Expression
- (2014) B. P. Fairfax et al. SCIENCE
- The Framingham Heart Study and the epidemiology of cardiovascular disease: a historical perspective
- (2013) Syed S Mahmood et al. LANCET
- Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes
- (2013) Jason Flannick et al. NATURE GENETICS
- Validating therapeutic targets through human genetics
- (2013) Robert M. Plenge et al. NATURE REVIEWS DRUG DISCOVERY
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study
- (2012) Benjamin F Voight et al. LANCET
- Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease
- (2012) Luke Jostins et al. NATURE
- Systematic dissection and optimization of inducible enhancers in human cells using a massively parallel reporter assay
- (2012) Alexandre Melnikov et al. NATURE BIOTECHNOLOGY
- A knockout mouse resource for the biomedical research community
- (2011) K. C. Kent Lloyd Annals of the New York Academy of Sciences
- China Kadoorie Biobank of 0.5 million people: survey methods, baseline characteristics and long-term follow-up
- (2011) Z. Chen et al. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
- Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease
- (2011) Manuel A Rivas et al. NATURE GENETICS
- Using electronic health records to drive discovery in disease genomics
- (2011) Isaac S. Kohane NATURE REVIEWS GENETICS
- Pervasive Sharing of Genetic Effects in Autoimmune Disease
- (2011) Chris Cotsapas et al. PLoS Genetics
- PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations
- (2010) J. C. Denny et al. BIOINFORMATICS
- From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
- (2010) Kiran Musunuru et al. NATURE
- Hundreds of variants clustered in genomic loci and biological pathways affect human height
- (2010) Hana Lango Allen et al. NATURE
- A de novo paradigm for mental retardation
- (2010) Lisenka E L M Vissers et al. NATURE GENETICS
- Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans
- (2010) G. Genovese et al. SCIENCE
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Harnessing the information contained within genome-wide association studies to improve individual prediction of complex disease risk
- (2009) David M. Evans et al. HUMAN MOLECULAR GENETICS
- Finding the missing heritability of complex diseases
- (2009) Teri A. Manolio et al. NATURE
- Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
- (2009) Shaun M. Purcell et al. NATURE
- Targeted capture and massively parallel sequencing of 12 human exomes
- (2009) Sarah B. Ng et al. NATURE
- High-resolution analysis of DNA regulatory elements by synthetic saturation mutagenesis
- (2009) Rupali P Patwardhan et al. NATURE BIOTECHNOLOGY
- The complete genome of an individual by massively parallel DNA sequencing
- (2008) David A. Wheeler et al. NATURE
- A variant associated with nicotine dependence, lung cancer and peripheral arterial disease
- (2008) Thorgeir E. Thorgeirsson et al. NATURE
- A Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection
- (2008) T. I. Pollin et al. SCIENCE
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now