Citation Impact
Citing Papers
The 22q11.2 Deletion Syndrome
2001
Chromosome Abnormalities and Genetic Counseling
2011
Visuospatial and Numerical Cognitive Deficits in Children with Chromosome 22Q11.2 Deletion Syndrome
2005
The DNA-damage response in human biology and disease
2009 StandoutNature
Diffusion tensor imaging: Concepts and applications
2001 Standout
SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
1995
The Ubiquitin Proteasome System in Neurodegenerative Diseases
2003 StandoutNobel
Myotonic dystrophy, knockouts, warts
1996
Tandem repeats finder: a program to analyze DNA sequences
1999 Standout
Tract-based spatial statistics: Voxelwise analysis of multi-subject diffusion data
2006 Standout
Structural basis for triplet repeat disorders: a computational analysis
1999 StandoutNobel
Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease
2000
Communication disorders in the 22Q11.2 microdeletion syndrome
2000
Niemann-Pick disease type C
2010 Standout
Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability
2000
Modelling brain diseases in mice: the challenges of design and analysis
2003
The Molecular Signatures Database Hallmark Gene Set Collection
2015 Standout
The predictive value of numerical magnitude comparison for individual differences in mathematics achievement
2009 Standout
Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development
2015
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
Regional cortical white matter reductions in velocardiofacial syndrome: a volumetric MRI analysis
2001
Advances in pediatric neuroimaging
1998
Neuropsychological, Learning and Psychosocial Profile of Primary School Aged Children with the Velo-Cardio-Facial Syndrome (22q11 Deletion): Evidence for a Nonverbal Learning Disability?
1999
Successful treatment of neuroborreliosis with ten day regimens
2002
Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease
1995
Antioxidant enzymes and human diseases
1999 Standout
Adherence to Hypothermia Guidelines: A French Multicenter Study of Fullterm Neonates
2013
Early Differentiation of Lyme From Enteroviral Meningitis
2005
Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice
1996 Standout
Research on behavioural phenotypes: velocardiofacial syndrome (deletion 22q11.2)
2000
Thalamic reductions in children with chromosome 22q11.2 deletion syndrome
2004
TRINUCLEOTIDE REPEAT EXPANSION AND HUMAN DISEASE
1995
Disabilities and cognition in children and adolescents with 22q11 deletion syndrome
2005
Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study
2006
Transgenic models of Huntington's disease
1997
Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion
2004
A gene expression atlas of the central nervous system based on bacterial artificial chromosomes
2003 StandoutNature
Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion
2001
Molecular Basis of Genetic Instability of Triplet Repeats
1996
Expanded polyglutamine in the Machado–Joseph disease protein induces cell death in vitro and in vivo
1996
Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
2000
THE EVOLUTION AND FUNCTIONS OF LAUGHTER AND HUMOR: A SYNTHETIC APPROACH
2005 Standout
Lyme Disease in Children
2008
Structural brain abnormalities in patients with schizophrenia and 22q11 deletion syndrome
2002
Features of trinucleotide repeat instability in vivo
2008
Velo-cardio-facial syndrome: A distinctive behavioral phenotype
2000
Moyamoya disease: current concepts and future perspectives
2008 Standout
Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study
2005
Down's syndrome
2003 Standout
Oligomeric and Fibrillar Species of Amyloid-β Peptides Differentially Affect Neuronal Viability
2002 Standout
Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli
1995
Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease
1998
Health Supervision for Children With Down Syndrome
2011 Standout
Olfaction in the fetal and premature infant: functional status and clinical implications
2004
22q11.2 deletion syndrome
2015 Standout
Lyme borreliosis
2011 Standout
DEVELOPMENTAL BRAIN CHANGES INVESTIGATED WITH PROTON MAGNETIC RESONANCE SPECTROSCOPY
1995
Neural correlates of laughter and humour
2003
Lyme Neuroborreliosis in Children
2008
Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation
1997
Microsatellites: simple sequences with complex evolution
2004 Standout
Quadruplex DNA: sequence, topology and structure
2006 Standout
Normative data for the “Sniffin’ Sticks” including tests of odor identification, odor discrimination, and olfactory thresholds: an upgrade based on a group of more than 3,000 subjects
2006 Standout
Long-Term Neuropsychologic and Health Outcomes of Children With Facial Nerve Palsy Attributable to Lyme Disease
2003
Native α-synuclein induces clustering of synaptic-vesicle mimics via binding to phospholipids and synaptobrevin-2/VAMP2
2013 StandoutNobel
Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD Mutation
1997 Standout
Cooling for newborns with hypoxic ischaemic encephalopathy
2013 Standout
AnFgf8mouse mutant phenocopies human 22q11 deletion syndrome
2002 StandoutNobel
The Clinical Assessment, Treatment, and Prevention of Lyme Disease, Human Granulocytic Anaplasmosis, and Babesiosis: Clinical Practice Guidelines by the Infectious Diseases Society of America
2006 Standout
Genetic Classification of Primary Neurodegenerative Disease
1998 Science
Multiple Pathways of Recombination Induced by Double-Strand Breaks in Saccharomyces cerevisiae
1999 Standout
Orientation Dependence of Trinucleotide CAG Repeat Instability in Saccharomyces cerevisiae
1996
Characterization of Lyme Meningitis and Comparison With Viral Meningitis in Children
1999
Compliance with NICE guidelines when commissioning varicose vein procedures
2018 StandoutNobel
Fission yeast orb 6, a ser/thr protein kinase related to mammalian rho kinase and myotonic dystrophy kinase, is required for maintenance of cell polarity and coordinates cell morphogenesis with the cell cycle
1998 StandoutNobel
COMPARATIVE PRIMATE GENOMICS
2004 StandoutNobel
Breastfeeding promotion for infants in neonatal units: a systematic review and economic analysis
2009
Extrahelical (CAG)/(CTG) triplet repeat elements support proliferating cell nuclear antigen loading and MutLα endonuclease activation
2013 StandoutNobel
Evolutionary Comparison of the Mechanism of DNA Cleavage with Respect to Immune Diversity and Genomic Instability
2012 StandoutNobel
The Androgen Receptor in Health and Disease
2012
Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management
2012 Standout
Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice
1999 StandoutNobel
Works of Peter M. Bingham being referenced
Regional variation in brain lactate in leigh syndrome by localized 1H magnetic resonance spectroscopy
1991
Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice
1995
The Vermont oxford neonatal encephalopathy registry: rationale, methods, and initial results
2012
Breast milk odor via olfactometer for tube-fed, premature infants
2007
Enlarged sylvian fissures in infants with interstitial deletion of chromosome 22q11
1997
Polymicrogyria in chromosome 22 deletion syndrome
1998
Spectrum of disorders associated with enlarged sylvian fissures in infancy
1998
A Pilot Study of Milk Odor Effect on Nonnutritive Sucking by Premature Newborns
2003
Neurologic Manifestations in Children With Lyme Disease
1995
Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22q11.
1997