Citation Impact
Citing Papers
Persistent epigenetic differences associated with prenatal exposure to famine in humans
2008 Standout
Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion
2015 StandoutScienceNobel
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
1995 StandoutNature
Cerebral cortex expansion and folding: what have we learned?
2016
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis
2013 Standout
Schizophrenia risk from complex variation of complement component 4
2016 StandoutNature
Syndromes of disordered chromatin remodeling
2003
Depression
2018 Standout
An integrated map of genetic variation from 1,092 human genomes
2012 StandoutNature
Royal Australian and New Zealand College of Psychiatrists clinical practice guidelines for mood disorders
2015
Benefits and limitations of genome-wide association studies
2019
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
1997
Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype
2008
Disruption of insulin–like growth factor 2 imprinting in Beckwith–Wiedemann syndrome
1993
Deficiency of the β3 subunit of the type A γ–aminobutyric acid receptor causes cleft palate in mice
1995
Large multiallelic copy number variations in humans
2015
The T-box factor MLS-1 acts as a molecular switch during specification of nonstriated muscle in C. elegans
2002 StandoutNobel
Epigenetics in human disease and prospects for epigenetic therapy
2004 StandoutNature
The β-Thalassemias
1999 Standout
Huntington's disease
2007 Standout
Foxp2 controls synaptic wiring of corticostriatal circuits and vocal communication by opposing Mef2c
2016 StandoutNobel
The common inversion of the Williams–Beuren syndrome region at 7q11.23 does not cause clinical symptoms
2008
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
1994 StandoutNature
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.
1993
Childhood obesity: public-health crisis, common sense cure
2002 Standout
Bipolar disorder, affective psychosis, and schizophrenia in pregnancy and the post-partum period
2014
Transcription Factor E2-2 Is an Essential and Specific Regulator of Plasmacytoid Dendritic Cell Development
2008
Identification and Evaluation of Children With Autism Spectrum Disorders
2007
Distant metastasis occurs late during the genetic evolution of pancreatic cancer
2010 StandoutNature
Diagnosis and management of medical problems in adults with Williams–Beuren syndrome
2007
The mini-driver model of polygenic cancer evolution
2015 StandoutNobel
Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities
2012
The ground state of embryonic stem cell self-renewal
2008 StandoutNature
Growth and folding of the mammalian cerebral cortex: from molecules to malformations
2014
Angelman syndrome
1995
The cell-surface heparan sulfate proteoglycan glypican-1 regulates growth factor action in pancreatic carcinoma cells and is overexpressed in human pancreatic cancer.
1998
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
Mechanisms of Actions of Inhaled Anesthetics
2003 Standout
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)
1995
Biology and applications of human minisatellite loci
1992
Limb malformations and the human HOX genes
2002
Biological Functions of Autophagy Genes: A Disease Perspective
2019 Standout
Mouse Genetic Approaches to Investigating Calcium/Calmodulin-Dependent Protein Kinase II Function in Plasticity and Cognition: Table 1.
2004
Genetic susceptibility to type 2 diabetes and obesity: from genome-wide association studies to rare variants and beyond
2014
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
1997
Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene
2000 StandoutNature
Modern human changes in regulatory regions implicated in cortical development
2020
Clan Genomics and the Complex Architecture of Human Disease
2011
Cleft lip and palate
2009 Standout
Human microcephaly
2004
A role of PIEZO1 in iron metabolism in mice and humans
2021 StandoutNobel
Williams–Beuren Syndrome
2010 Standout
Angelman syndrome: a review of clinical and genetic aspects
1999
Type 2 diabetes
2017 Standout
UBE3A/E6-AP mutations cause Angelman syndrome
1997
Folate intake, markers of folate status and oral clefts: is the evidence converging?
2008
The diagnosis and management of monogenic diabetes in children and adolescents
2009
High Affinity Neurexin Binding to Cell Adhesion G-protein-coupled Receptor CIRL1/Latrophilin-1 Produces an Intercellular Adhesion Complex
2012 StandoutNobel
5 α-Thalassaemia
1993
Type 1 diabetes
2013 Standout
Allele specificity of DNA replication timing in the Angelman/Prader–Willi syndrome imprinted chromosomal region
1994
Genetic architecture in autism spectrum disorder
2012
Autism
2013 Standout
Neuroligins and neurexins link synaptic function to cognitive disease
2008 StandoutNatureNobel
The conundrums of understanding genetic risks for autism spectrum disorders
2011
Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
2010
Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders
2006
Maternal Smoking and Environmental Tobacco Smoke Exposure and the Risk of Orofacial Clefts
2007
The Human Obesity Gene Map: The 2001 Update
2002
Experience-Dependent Increase in CA1 Place Cell Spatial Information, But Not Spatial Reproducibility, Is Dependent on the Autophosphorylation of the α-Isoform of the Calcium/Calmodulin-Dependent Protein Kinase II
2007 StandoutNobel
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping
2006
Molecular-clinical spectrum of the ATR-X syndrome
2000
Glypican-1 identifies cancer exosomes and detects early pancreatic cancer
2015 StandoutNature
AKT/PKB Signaling: Navigating the Network
2017 Standout
Prenatal Valproate Exposure and Risk of Autism Spectrum Disorders and Childhood Autism
2013 Standout
Effects of perinatal mental disorders on the fetus and child
2014 Standout
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
2012
Evolution and Functions of Long Noncoding RNAs
2009 Standout
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
Allelic inactivation regulates olfactory receptor gene expression
1994 StandoutNobel
Transcription is required for establishment of germline methylation marks at imprinted genes
2009
Minisatellite diversity supports a recent African origin for modern humans
1996 StandoutNobel
CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila
2009
Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations
2012
Novel Primate miRNAs Coevolved with Ancient Target Genes in Germinal Zone-Specific Expression Patterns
2014
Organoid single-cell genomic atlas uncovers human-specific features of brain development
2019 StandoutNatureNobel
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
1993 Nature
MDGAs interact selectively with neuroligin-2 but not other neuroligins to regulate inhibitory synapse development
2012 StandoutNobel
Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells
2010 StandoutNobel
Development of Monocytes, Macrophages, and Dendritic Cells
2010 StandoutScience
Induced chromosome deletions cause hypersociability and other features of Williams–Beuren syndrome in mice
2009
Reconstructing the DNA Methylation Maps of the Neandertal and the Denisovan
2014 StandoutScienceNobel
A General Mechanism for Network-Dosage Compensation in Gene Circuits
2010 StandoutScienceNobel
Human TKTL1 implies greater neurogenesis in frontal neocortex of modern humans than Neanderthals
2022 StandoutScienceNobel
The evolutionary biology of child health
2011
The ubiquitin-proteasome pathway: on protein death and cell life
1998 StandoutNobel
Mice devoid of γ-aminobutyrate type A receptor β3 subunit have epilepsy, cleft palate, and hypersensitive behavior
1997
Prevention of Orofacial Clefts: Does Pregnancy Planning Have a Role?
2006
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects
2018
Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline
2010 StandoutNobel
Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development
2012 StandoutNobel
Epigenetic Epidemiology of the Developmental Origins Hypothesis
2007
The Ubiquitin-Proteasome Proteolytic Pathway: Destruction for the Sake of Construction
2002 StandoutNobel
Terminal 22q Deletion Syndrome: A Newly Recognized Cause of Speech and Language Disability in the Autism Spectrum
2004
THE UBIQUITIN SYSTEM
1998 StandoutNobel
Neuroacanthocytosis
2005
Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice
1999 StandoutNobel
Cleft palate in mice with a targeted mutation in the γ-aminobutyric acid-producing enzyme glutamic acid decarboxylase 67
1997 StandoutNobel
Works of Jill Clayton‐Smith being referenced
Angelman syndrome.
1992
Smoking and Orofacial Clefts: A United Kingdom–Based Case-Control Study
2004
Angelman syndrome: a review of the clinical and genetic aspects
2003
Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals
1993
Discriminating Power of Localized Three-Dimensional Facial Morphology
2005
Angelman syndrome: Consensus for diagnostic criteria
1995
Fetal valproate syndrome.
1995
Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen
2004
Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)
2007
Cognitive Function at 3 Years of Age after Fetal Exposure to Antiepileptic Drugs
2009
The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs
2013
Fetal antiepileptic drug exposure and cognitive outcomes at age 6 years (NEAD study): a prospective observational study
2013
Recurrent Wiedemann‐Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5)
1992
Large, rare chromosomal deletions associated with severe early-onset obesity
2009 Nature
Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder
2010
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B
2003
Further evidence for dominant inheritance at the chromosome 15q11‐13 locus in familial angelman syndrome
1992
Clinical and hematologic aspects of the X‐linked α‐thalassemia/mental retardation syndrome (ATR‐X)
1995
Uniparental paternal disomy in Angelman's syndrome
1991
Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum
2007
Deletions in theVPS13B(COH1) gene as a cause of Cohen syndrome
2009
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus
2006
Folate and Clefts of the Lip and Palate—A U.K.-Based Case-Control Study: Part I: Dietary and Supplemental Folate
2008
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.
1993
Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.
1997
The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.
1991
Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.
1992
Folate and Clefts of the Lip and Palate—A U.K.-Based Case-Control Study: Part II: Biochemical and Genetic Analysis
2008
AUTISM SPECTRUM DISORDERS FOLLOWING IN UTERO EXPOSURE TO ANTIEPILEPTIC DRUGS
2008
Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres
1999
Molecular mechanisms in Angelman syndrome: a survey of 93 patients.
1993