Citation Impact
Citing Papers
Prevalence and risk of violence against children with disabilities: a systematic review and meta-analysis of observational studies
2012 Standout
Mechanism of Release and Fate of Excised Oligonucleotides during Nucleotide Excision Repair
2012 StandoutNobel
The DNA-damage response in human biology and disease
2009 StandoutNature
Autism and tuberous sclerosis
1992
Epilepsy in autism spectrum disorders
2006
The Neurobiology of Autism
2007
XPG: Its Products and Biological Roles
2008
Dendritic Spine Pathology: Cause or Consequence of Neurological Disorders?
2002
The Tuberous Sclerosis Complex
2006 Standout
Genetics of austim: complex aetiology for a heterogeneous disorder
2001
The evidence for a temporal processing deficit linked to dyslexia: A review
1995
The 8,5′-cyclopurine-2′-deoxynucleosides: Candidate neurodegenerative DNA lesions in xeroderma pigmentosum, and unique probes of transcription and nucleotide excision repair
2008
The prevalence and correlates of abuse among children with autism served in comprehensive community-based mental health settings
2005
Transcription-coupled DNA repair: two decades of progress and surprises
2008
Conserved Residues of Human XPG Protein Important for Nuclease Activity and Function in Nucleotide Excision Repair
1999
Prevalence of Lysosomal Storage Disorders
1999 Standout
Incidence of neuronal ceroid‐lipofuscinoses in West Germany: Variation of a method for studying autosomal recessive disorders
1992
SynCAM 1 Adhesion Dynamically Regulates Synapse Number and Impacts Plasticity and Learning
2010 StandoutNobel
Identification and Evaluation of Children With Autism Spectrum Disorders
2007
Adaptive Stress Response in Segmental Progeria Resembles Long-Lived Dwarfism and Calorie Restriction in Mice
2006
Recognition and repair of the cyclobutane thymine dimer, a major cause of skin cancers, by the human excision nuclease
2003 StandoutNobel
Regulation of nucleotide excision repair activity by transcriptional and post-transcriptional control of the XPA protein
2010 StandoutNobel
The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms
2001
Mechanisms of Postnatal Neurobiological Development: Implications for Human Development
2001
The Involvement of DNA-Damage and -Repair Defects in Neurological Dysfunction
2008
Magnetic resonance technology in human brain science: Blueprint for a program based upon morphometry
1989
Base Excision Repair of Oxidative DNA Damage Activated by XPG Protein
1999 StandoutNobel
DNA sequences of two expressed nuclear genes for human mitochondrial ADP/ATP translocase
1989 StandoutNobel
Recognition of RNA Polymerase II and Transcription Bubbles by XPG, CSB, and TFIIH: Insights for Transcription-Coupled Repair and Cockayne Syndrome
2005
Sensorineural hearing loss in children
2005 Standout
DNA Damage, Aging, and Cancer
2009 Standout
Structures of Human Exonuclease 1 DNA Complexes Suggest a Unified Mechanism for Nuclease Family
2011 StandoutNobel
Evidence-Based Assessment of Autism Spectrum Disorders in Children and Adolescents
2005
Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP)
2006 Standout
Nucleotide Excision Repair in Human Cells
2013 StandoutNobel
Dendritic Anomalies in Disorders Associated with Mental Retardation
2000 Standout
Neocortical excitation/inhibition balance in information processing and social dysfunction
2011 StandoutNature
The Impact of the Gut Microbiota on Human Health: An Integrative View
2012 Standout
DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
2003
Screening for Autism Spectrum Disorders in Children With Down Syndrome
2010
WebLogo: A Sequence Logo Generator: Figure 1
2004 Standout
Mechanism of open complex and dual incision formation by human nucleotide excision repair factors
1997
Cockayne syndrome: Review of 140 cases
1992
Eye movements in reading and information processing: 20 years of research.
1998 Standout
Autism
2013 Standout
Neuroligins and neurexins link synaptic function to cognitive disease
2008 StandoutNatureNobel
Xeroderma Pigmentosum Group C Splice Mutation Associated with Autism and Hypoglycinemia11An abstract of this manuscript was presented at the annual meeting of the Society for Investigative Dermatology in Washington, DC
1998 StandoutNobel
Microbiota Modulate Behavioral and Physiological Abnormalities Associated with Neurodevelopmental Disorders
2013 Standout
Whole Brain Segmentation
2002 Standout
Neuroglial activation and neuroinflammation in the brain of patients with autism
2004 Standout
A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
1990 StandoutNature
FOXP2 Is Not a Major Susceptibility Gene for Autism or Specific Language Impairment
2002
Effects of perinatal mental disorders on the fetus and child
2014 Standout
Diversity, stability and resilience of the human gut microbiota
2012 StandoutNature
Retinopathy induced in mice by targeted disruption of the rhodopsin gene
1997 StandoutNobel
A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
1999
Molecular evolution of FOXP2, a gene involved in speech and language
2002 StandoutNatureNobel
Neurobiology of Autism
1998
Domain swapping between FEN-1 and XPG defines regions in XPG that mediate nucleotide excision repair activity and substrate specificity
2007
An Alternative Form of Replication Protein A Expressed in Normal Human Tissues Supports DNA Repair
2009 StandoutNobel
Identification of Cyclobutane Pyrimidine Dimer-Responsive Genes Using UVB-Irradiated Human Keratinocytes Transfected with In Vitro-Synthesized Photolyase mRNA
2015 StandoutNobel
Developmental potential in the first 5 years for children in developing countries
2007 Standout
Autism Spectrum Disorders
2000
Transcription-coupled repair and premature ageing
2005
Genome-wide analysis of human global and transcription-coupled excision repair of UV damage at single-nucleotide resolution
2015 StandoutNobel
Retinitis pigmentosa
1988
DNA Repair Synthesis and Ligation Affect the Processing of Excised Oligonucleotides Generated by Human Nucleotide Excision Repair
2014 StandoutNobel
Paternal Mental Health and Socioemotional and Behavioral Development in Their Children
2013
Down Syndrome
2020 Standout
Neuropathological and Genetic Findings in Autism: The Significance of a Putative Minicolumnopathy
2006
Mitochondrial diseases
1986
Prevalence of Autism in a United States Population: The Brick Township, New Jersey, Investigation
2001
Postnatal Growth Failure, Short Life Span, and Early Onset of Cellular Senescence and Subsequent Immortalization in Mice Lacking the Xeroderma Pigmentosum Group G Gene
1999
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome
1984
Restoration of Nucleotide Excision Repair in a Helicase-Deficient XPD Mutant from Intragenic Suppression by a Trichothiodystrophy Mutation
2001 StandoutNobel
Mitochondrial Inheritance in a Mitochondrially Mediated Disease
1983
Quality Control by DNA Repair
1999 StandoutScienceNobel
Microtubular disarray in cortical dendrites and neurobehavioral failure. II. Computer reconstruction of perturbed microtubular arrays
1982
Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): Disease entity or a syndrome?
1980
The mind-body-microbial continuum.
2011
Clinical Practice Pathways for Evaluation and Medication Choice for Attention-Deficit/Hyperactivity Disorder Symptoms in Autism Spectrum Disorders
2012
Yeast Nucleotide Excision Repair Proteins Rad2 and Rad4 Interact with RNA Polymerase II Basal Transcription Factor b (TFIIH)
1994 StandoutNobel
Clinical Assessment and Management of Toddlers With Suspected Autism Spectrum Disorder: Insights From Studies of High-Risk Infants
2009
Yeast nucleotide excision repair proteins Rad2 and Rad4 interact with RNA polymerase II basal transcription factor b (TFIIH).
1994 StandoutNobel
Mitochondrial myopathies
1985
Familial Clustering of Autoimmune Disorders and Evaluation of Medical Risk Factors in Autism
1999
Effect of Damage Type on Stimulation of Human Excision Nuclease by SWI/SNF Chromatin Remodeling Factor
2003 StandoutNobel
The SWI/SNF Chromatin-Remodeling Factor Stimulates Repair by Human Excision Nuclease in the Mononucleosome Core Particle
2002 StandoutNobel
DNA Damage in the Nucleosome Core Is Refractory to Repair by Human Excision Nuclease
2000 StandoutNobel
Mitochondrial Dysfunction and Type 2 Diabetes
2005 StandoutScience
Factors Associated With Age of Diagnosis Among Children With Autism Spectrum Disorders
2005
The development of mitochondrial medicine.
1994
The mind-body-microbial continuum
2011
Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy
1988 StandoutScience
Sensory impairments, intellectual disability and psychiatry
2001
Circadian control of XPA and excision repair of cisplatin-DNA damage by cryptochrome and HERC2 ubiquitin ligase
2010 StandoutNobel
Molecular Mechanisms of Mammalian DNA Repair and the DNA Damage Checkpoints
2004 StandoutNobel
Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
2009 StandoutNobel
Cockayne syndrome group B protein enhances elongation by RNA polymerase II
1997 StandoutNobel
Thimerosal-Containing Vaccines and Autistic Spectrum Disorder: A Critical Review of Published Original Data
2004
Works of I. Rapin being referenced
HEARING‐IMPAIRED AUTISTIC CHILDREN
1991
Autistic regression and disintegrative disorder: How important the role of epilepsy?
1995
Electrophysiologic Manifestations of Impaired Temporal Lobe Auditory Processing in Verbal Auditory Agnosia
1995
Xeroderma pigmentosum/Cockayne syndrome complex: first neuropathological study and review of eight other cases
2001
Autism
1997
Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities
1988
DNA Repair and Ultraviolet Mutagenesis in Cells From a New Patient With Xeroderma Pigmentosum Group G and Cockayne Syndrome Resemble Xeroderma Pigmentosum Cells
1996
Practice parameter: Screening and diagnosis of autism
2000
Deafness in Cockayne's syndrome: Morphological, morphometric, and quantitative study of the auditory pathway
1984
Microtubule disarray in cortical dendrites and neurobehavioral failure. I. Golgi and electron microscopic studies
1982
Cockayne syndrome and xeroderma pigmentosum
2000
Giant Neuronal Mitochondria in an Infant With Microcephaly and Seizure Disorder
1969
Syndromes in developmental dysphasia and adult aphasia.
1988
Ceroid Lipofuscinosis
1975
A Cytochrome-Related Inherited Disorder of the Nervous System and Muscle
1970