Citation Impact
Citing Papers
Structural Variation in the Human Genome and its Role in Disease
2010
Protein Misfolding, Amyloid Formation, and Human Disease: A Summary of Progress Over the Last Decade
2017 Standout
Evolutionary pathway to increased virulence and epidemic group A Streptococcus disease derived from 3,615 genome sequences
2014
Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion
2015 StandoutScienceNobel
Comparing Two Diagnostic Laboratory Tests for Williams Syndrome: Fluorescent In Situ Hybridization versus Multiplex Ligation-Dependent Probe Amplification
2007
Hypoxia and intra-complex genetic suppressors rescue complex I mutants by a shared mechanism
2024 StandoutNobel
Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge
2013
RIM1α and Interacting Proteins Involved in Presynaptic Plasticity Mediate Prepulse Inhibition and Additional Behaviors Linked to Schizophrenia
2010 StandoutNobel
Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology
2017
Physical Principles of Membrane Shape Regulation by the Glycocalyx
2019 StandoutNobel
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage ofXLMRgenes
2007
Tau-mediated neurodegeneration in Alzheimer's disease and related disorders
2007 Standout
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
2007
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
2007
Foxp2 controls synaptic wiring of corticostriatal circuits and vocal communication by opposing Mef2c
2016 StandoutNobel
Neurexins Physically and Functionally Interact with GABAA Receptors
2010 StandoutNobel
The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity
2015
Schizophrenia
2009 Standout
Predicting the clinical impact of human mutation with deep neural networks
2018
Applying genomic and transcriptomic advances to mitochondrial medicine
2021
Alzheimer's disease
2011 Standout
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
2015 Standout
Hallmarks of aging: An expanding universe
2023 Standout
Mesenchymal stem cells in health and disease
2008 Standout
Human Structural Variation: Mechanisms of Chromosome Rearrangements
2015
A de novo paradigm for mental retardation
2010
An atlas of genetic correlations across human diseases and traits
2015 Standout
Disruption of an Evolutionarily Novel Synaptic Expression Pattern in Autism
2016 StandoutNobel
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
2016
Axonal Transport: Cargo-Specific Mechanisms of Motility and Regulation
2014
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
Biological Functions of Autophagy Genes: A Disease Perspective
2019 Standout
Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism
2013
A map of constrained coding regions in the human genome
2018
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
2014 Standout
The CRF system, stress, depression and anxiety—insights from human genetic studies
2009
The origins and impact of primate segmental duplications
2009
High-performance medicine: the convergence of human and artificial intelligence
2018 Standout
A spectral approach integrating functional genomic annotations for coding and noncoding variants
2016
Williams–Beuren Syndrome
2010 Standout
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
2006
Drug repurposing: progress, challenges and recommendations
2018 Standout
Clinical Application of Microarray-Based Molecular Cytogenetics: An Emerging New Era of Genomic Medicine
2009
Genetic regulation of gene expression in the epileptic human hippocampus
2017
An autism‐associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptor‐mediated synaptic transmission in hippocampus
2011 StandoutNobel
Genetic variation and the de novo assembly of human genomes
2015
The pangenome of an agronomically important crop plant Brassica oleracea
2016 Standout
Autophagy in Human Health and Disease
2013 Standout
Nanoparticle-assisted optical tethering of endosomes reveals the cooperative function of dyneins in retrograde axonal transport
2015 StandoutNobel
Cross-trial prediction of treatment outcome in depression: a machine learning approach
2016
The propagation of prion-like protein inclusions in neurodegenerative diseases
2010
Functional mapping and annotation of genetic associations with FUMA
2017 Standout
A guide to deep learning in healthcare
2018 Standout
Neuroligins and neurexins link synaptic function to cognitive disease
2008 StandoutNatureNobel
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism
2015
Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
2010
Coming of age: ten years of next-generation sequencing technologies
2016 Standout
Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders
2006
CASK Functions as a Mg2+-Independent Neurexin Kinase
2008 StandoutNobel
Genome structural variation discovery and genotyping
2011
The Amyloid State of Proteins in Human Diseases
2012 Standout
A burst of segmental duplications in the genome of the African great ape ancestor
2009 Nature
Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data
2013 Standout
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability
2014
A Decade of Tau Transgenic Animal Models and Beyond
2007
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
2009
Lectin Domains of Polypeptide GalNAc Transferases Exhibit Glycopeptide Binding Specificity
2011 StandoutNobel
The Human Condition—A Molecular Approach
2014 StandoutNobel
Glycosylation in cancer: mechanisms and clinical implications
2015 Standout
De novo mutations in epileptic encephalopathies
2013 Nature
A Resource of Cre Driver Lines for Genetic Targeting of GABAergic Neurons in Cerebral Cortex
2011 Standout
Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion
2008
Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients
2008
Tau pathology and neurodegeneration
2013
22q13 microduplication in two patients with common clinical manifestations: A recognizable syndrome?
2007
Functional MAPT haplotypes: Bridging the gap between genotype and neuropathology
2007
Modeling neurodevelopmental disorder-associated humanAGO1mutations inCaenorhabditis elegansArgonautealg-1
2024 StandoutNobel
CADD: predicting the deleteriousness of variants throughout the human genome
2018 Standout
Noncovalent Functionalization of Graphene and Graphene Oxide for Energy Materials, Biosensing, Catalytic, and Biomedical Applications
2016 Standout
EGCG remodels mature α-synuclein and amyloid-β fibrils and reduces cellular toxicity
2010 Standout
Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
2011
A Century of Alzheimer's Disease
2006 StandoutScience
Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases
2014
Rapid phylogenetic analysis of large samples of recombinant bacterial whole genome sequences using Gubbins
2014 Standout
A General Mechanism for Network-Dosage Compensation in Gene Circuits
2010 StandoutScienceNobel
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
2013 StandoutNobel
Human Bone Marrow–Derived Mesenchymal Stem Cells Do Not Undergo Transformation after Long-termIn vitroCulture and Do Not Exhibit Telomere Maintenance Mechanisms
2007
Interstitial microdeletion of the 1p34.3p34.2 region
2018
Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development
2012 StandoutNobel
Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations
2020
Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management
2012 Standout
Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
2009 StandoutNobel
Autism spectrum disorder severity reflects the average contribution of de novo and familial influences
2014
Works of David A. Koolen being referenced
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
2012
Diagnostic Genome Profiling in Mental Retardation
2005
Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: Clinical report and review
2008
Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature
2006
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
2006
Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: Novel mutations and neuropsychiatric phenotype in three adult patients
2013
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation
2005
A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development
2007
Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing
2012
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)
2004
Whole exome sequencing of suspected mitochondrial patients in clinical practice
2015
Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability
2013