Evaluating drug targets through human loss-of-function genetic variation

A structural variation reference for medical and population genetics

(2020) Ryan L. Collins et al.   NATURE

Transcript expression-aware annotation improves rare variant interpretation

(2020) Beryl B. Cummings 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

Genetics of Common, Complex Coronary Artery Disease

(2019) Kiran Musunuru et al.   CELL

Measuring intolerance to mutation in human genetics

(2019) Zachary L. Fuller et al.   NATURE GENETICS

Targeting Huntingtin Expression in Patients with Huntington’s Disease

(2019) Sarah J. Tabrizi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Age at onset in genetic prion disease and the design of preventive clinical trials

(2019) Eric Vallabh Minikel et al.   NEUROLOGY

Cohort profile: East London genes & health (ELGH), a community-based population genomics and health study of British Bangladeshi and British Pakistani people

(2019) Sarah Finer et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Prion disease incidence in the United States, 2003–2015

(2019) Ryan A. Maddox et al.   NEUROLOGY

Are drug targets with genetic support twice as likely to be approved? Revised estimates of the impact of genetic support for drug mechanisms on the probability of drug approval

(2019) Emily A. King et al.   PLoS Genetics

A novel prion protein gene-truncating mutation causing autonomic neuropathy and diarrhea

(2018) G. Bommarito et al.   EUROPEAN JOURNAL OF NEUROLOGY

Leucine-Rich Repeat Kinase 2 in Parkinson’s Disease: Updated from Pathogenesis to Potential Therapeutic Target

(2018) Jinhua Chen et al.   EUROPEAN NEUROLOGY

Antisense oligonucleotides extend survival and reverse decrement in muscle response in ALS models

(2018) Alex McCampbell et al.   JOURNAL OF CLINICAL INVESTIGATION

Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study

(2018) Christopher DeBoever et al.   Nature Communications

Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis

(2018) Sabina Capellari et al.   Annals of Clinical and Translational Neurology

Accurate classification of BRCA1 variants with saturation genome editing

(2018) Gregory M. Findlay et al.   NATURE

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

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

(2017) Jack A Kosmicki et al.   NATURE GENETICS

DrugBank 5.0: a major update to the DrugBank database for 2018

(2017) David S Wishart et al.   NUCLEIC ACIDS RESEARCH

The IUPHAR/BPS Guide to PHARMACOLOGY in 2018: updates and expansion to encompass the new guide to IMMUNOPHARMACOLOGY

(2017) Simon D Harding et al.   NUCLEIC ACIDS RESEARCH

Tau reduction prevents neuronal loss and reverses pathological tau deposition and seeding in mice with tauopathy

(2017) Sarah L. DeVos et al.   Science Translational Medicine

Evaluation and Design of Genome-Wide CRISPR/SpCas9 Knockout Screens

(2017) Traver Hart et al.   G3-Genes Genomes Genetics

The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease

(2016) Jae Whan Keum et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

(2016) Lance H Rodan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy

(2016) Jamie C. Fong et al.   JOURNAL OF ALZHEIMERS DISEASE

Innovation in the pharmaceutical industry: New estimates of R&D costs

(2016) Joseph A. DiMasi et al.   JOURNAL OF HEALTH ECONOMICS

Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance

(2016) Dena G. Hernandez et al.   JOURNAL OF NEUROCHEMISTRY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Huntington disease reduced penetrance alleles occur at high frequency in the general population

(2016) Chris Kay et al.   NEUROLOGY

Genenames.org: the HGNC and VGNC resources in 2017

(2016) Bethan Yates et al.   NUCLEIC ACIDS RESEARCH

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

(2016) Jacqueline MacArthur et al.   NUCLEIC ACIDS RESEARCH

Health and population effects of rare gene knockouts in adult humans with related parents

(2016) V. M. Narasimhan et al.   SCIENCE

Quantifying prion disease penetrance using large population control cohorts

(2016) Eric Vallabh Minikel et al.   Science Translational Medicine

Biosynthesis of GPI-anchored proteins: special emphasis on GPI lipid remodeling

(2015) Taroh Kinoshita et al.   JOURNAL OF LIPID RESEARCH

Frontotemporal dementia

(2015) Jee Bang et al.   LANCET

MouseMine: a new data warehouse for MGI

(2015) H. Motenko et al.   MAMMALIAN GENOME

Identification of a large set of rare complete human knockouts

(2015) Patrick Sulem et al.   NATURE GENETICS

The support of human genetic evidence for approved drug indications

(2015) Matthew R Nelson et al.   NATURE GENETICS

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

The drug target genes show higher evolutionary conservation than non-target genes

(2015) Wenhua Lv et al.   Oncotarget

Human olfactory receptor responses to odorants

(2015) Joel D Mainland et al.   Scientific Data

The prevalence of Parkinson's disease: A systematic review and meta-analysis

(2014) Tamara Pringsheim et al.   MOVEMENT DISORDERS

Clinical development success rates for investigational drugs

(2014) Michael Hay et al.   NATURE BIOTECHNOLOGY

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

(2014) Elaine T. Lim et al.   PLoS Genetics

Disease Penetrance of Late-Onset Parkinsonism

(2014) Joanne Trinh et al.   JAMA Neurology

A novel familial prion disease causing pan-autonomic-sensory neuropathy and cognitive impairment

(2013) K. Matsuzono et al.   EUROPEAN JOURNAL OF NEUROLOGY

Multisource ascertainment of Huntington disease in Canada: Prevalence and population at risk

(2013) Emily R. Fisher et al.   MOVEMENT DISORDERS

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Validating therapeutic targets through human genetics

(2013) Robert M. Plenge et al.   NATURE REVIEWS DRUG DISCOVERY

A Novel Prion Disease Associated with Diarrhea and Autonomic Neuropathy

(2013) Simon Mead et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Liver-Specific Deletion of 3-Hydroxy-3-Methylglutaryl Coenzyme A Reductase Causes Hepatic Steatosis and Death

(2012) Shuichi Nagashima et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

The incidence and prevalence of Huntington's disease: A systematic review and meta-analysis

(2012) Tamara Pringsheim et al.   MOVEMENT DISORDERS

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Familial prion disease with alzheimer disease-like tau pathology and clinical phenotype

(2011) Suman Jayadev et al.   ANNALS OF NEUROLOGY

Tau splicing and the intricacies of dementia

(2011) Athena Andreadis   JOURNAL OF CELLULAR PHYSIOLOGY

Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease

(2011) Chuong B. Do et al.   PLoS Genetics

Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis

(2010) S. Byrne et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Interaction with AKAP79 Modifies the Cellular Pharmacology of PKC

(2010) Naoto Hoshi et al.   MOLECULAR CELL

Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP

(2009) Casper Jansen et al.   ACTA NEUROPATHOLOGICA

Incidence of amyotrophic lateral sclerosis in Europe

(2009) G. Logroscino et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Consanguinity, human evolution, and complex diseases

(2009) A. H. Bittles et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Natural Selection on Genes that Underlie Human Disease Susceptibility

(2008) Ran Blekhman et al.   CURRENT BIOLOGY

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

(2008) Daniel G Healy et al.   LANCET NEUROLOGY

Prevalence of SOD1 mutations in the Italian ALS population

(2008) A. Chio et al.   NEUROLOGY