Citation Impact
Citing Papers
Human Genome Sequencing in Health and Disease
2011
The Ensembl Variant Effect Predictor
2016 Standout
Piezo1 ion channel pore properties are dictated by C-terminal region
2015 StandoutNobel
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis
2013 Standout
An integrated map of genetic variation from 1,092 human genomes
2012 StandoutNature
Revisiting Mendelian disorders through exome sequencing
2011
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
2012
The Mechanosensitive Ion Channel Piezo Inhibits Axon Regeneration
2019 StandoutNobel
Waste Not, Want Not: Why Rarefying Microbiome Data Is Inadmissible
2014 Standout
A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk
2013
The role of autophagy in neurodegenerative disease
2013 Standout
The expanding scope of DNA sequencing
2012
Type I interferons in infectious disease
2015 Standout
The Genetics of Alzheimer Disease: Back to the Future
2010
Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia
2015 StandoutNobel
The Genetics of Alzheimer's Disease
2012
Predicting the Functional Effect of Amino Acid Substitutions and Indels
2012 Standout
A general framework for estimating the relative pathogenicity of human genetic variants
2014 Standout
mTOR at the nexus of nutrition, growth, ageing and disease
2020 Standout
Super-Enhancers in the Control of Cell Identity and Disease
2013 Standout
Mechanically Activated Ion Channels
2015 StandoutNobel
Mendelian randomization: genetic anchors for causal inference in epidemiological studies
2014 Standout
Piezos thrive under pressure: mechanically activated ion channels in health and disease
2017 StandoutNobel
STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis
2011
Piezo2 is the principal mechanotransduction channel for proprioception
2015 StandoutNobel
Clan Genomics and the Complex Architecture of Human Disease
2011
Structure of the mechanically activated ion channel Piezo1
2017 StandoutNatureNobel
Sclerostin: how human mutations have helped reveal a new target for the treatment of osteoporosis
2013 StandoutNobel
Rare-disease genetics in the era of next-generation sequencing: discovery to translation
2013
Exome sequencing as a tool for Mendelian disease gene discovery
2011
Clinical application of exome sequencing in undiagnosed genetic conditions
2012
The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions
2012
10 Years of GWAS Discovery: Biology, Function, and Translation
2017 Standout
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
2013
Exome sequencing supports a de novo mutational paradigm for schizophrenia
2011
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
2012
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
2011
Piezo2 senses airway stretch and mediates lung inflation-induced apnoea
2016 StandoutNatureNobel
VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
2012 Standout
De novo mutations in epileptic encephalopathies
2013 Nature
De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability
2014
The Diagnosis of Mild Cognitive Impairment due to Alzheimer’s Disease: Recommendations from the National Institute on Aging-Alzheimer’s Association Workgroups on Diagnostic Guidelines for Alzheimer’s Disease
2013 Standout
Microglia Function in the Central Nervous System During Health and Neurodegeneration
2017 Standout
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy
2012
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
2013 StandoutNobel
Cytokine Storm
2020 Standout
The diagnosis of mild cognitive impairment due to Alzheimer's disease: Recommendations from the National Institute on Aging‐Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease
2011 Standout
Piezo1, a mechanically activated ion channel, is required for vascular development in mice
2014 StandoutNobel
Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2
2013 Standout
The diagnosis of dementia due to Alzheimer's disease: Recommendations from the National Institute on Aging‐Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease
2011 Standout
Molecular Docking: Challenges, Advances and its Use in Drug Discovery Perspective
2018 Standout
Whole‐Exome Sequencing Reveals Overlap Between Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis and Familial Hemophagocytic Lymphohistiocytosis
2014
Chemical activation of the mechanotransduction channel Piezo1
2015 StandoutNobel
Hidden Killers: Human Fungal Infections
2012 Standout
Genes and mutations causing retinitis pigmentosa
2013 Standout
Works of Bart van Lier being referenced
Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome
2010
A de novo paradigm for mental retardation
2010