Citation Impact
Citing Papers
Developmental trajectories in 22q11.2 deletion syndrome
2015
The 22q11.2 Deletion Syndrome
2001
Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated
2013
Visuospatial and Numerical Cognitive Deficits in Children with Chromosome 22Q11.2 Deletion Syndrome
2005
Communication issues in 22q11.2 deletion syndrome: Children at risk
2001
Neuromotor deficits in children with the 22q11 deletion syndrome
2006
The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis
2004
Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome
2005
Visual scanning of faces in 22q11.2 deletion syndrome: Attention to the mouth or the eyes?
2010
The basis of anisotropic water diffusion in the nervous system – a technical review
2002 Standout
Language skills in 5–8‐year‐old children with 22q11 deletion syndrome
2006
Otolaryngologic Manifestations of the 22q11.2 Deletion Syndrome
2002
Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: Implications in transitional care
2014
Role of body dissatisfaction in the onset and maintenance of eating pathology
2002 Standout
22q11.2DS Deletion Syndrome: Developmental Milestones in Infants and Toddlers
2007
Intellectual abilities in a large sample of children with Velo–Cardio–Facial Syndrome: an update
2007
Tract-based spatial statistics: Voxelwise analysis of multi-subject diffusion data
2006 Standout
Investigation of White Matter Structure in Velocardiofacial Syndrome: A Diffusion Tensor Imaging Study
2003
Visual scanpath abnormalities in 22q11.2 deletion syndrome: Is this a face specific deficit?
2011
MR properties of rat sciatic nerve following trauma
2001
The molecular basis of human retinal and vitreoretinal diseases
2010 Standout
Comparing phenotypes in patients with idiopathic autism to patients with velocardiofacial syndrome (22q11 DS) with and without autism
2007
Arterial switch with full-flow cardiopulmonary bypass and limited circulatory arrest: Neurodevelopmental outcome
2004
The Acceptance of Cosmetic Surgery Scale: Initial examination of its factor structure and correlates among Brazilian adults
2011
Syndrome‐specific growth charts for 22q11.2 deletion syndrome in Caucasian children
2012
Intellectual disability and its relationship to autism spectrum disorders
2009 Standout
No justification of routine screening for 22q11 deletions in patients with overt cleft palate
2003
Body image and cosmetic medical treatments
2003
Two-year general and neurodevelopmental outcome after neonatal complex cardiac surgery in patients with deletion 22q11.2: A comparative study
2007
The predictive value of numerical magnitude comparison for individual differences in mathematics achievement
2009 Standout
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome
2008
Ultrathin conformal devices for precise and continuous thermal characterization of human skin
2013 Standout
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)
2010
Motor development in school‐aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome)
2007
Phenotypic variability of atypical 22q11.2 deletions not includingTBX1
2012
Repertoire of microglial and macrophage responses after spinal cord injury
2011 Standout
The Motor Profile of Primary School-Age Children with a 22q11.2 Deletion Syndrome (22q11.2DS) and an Age- and IQ-Matched Control Group
2009
Cleft lip and palate: understanding genetic and environmental influences
2011 Standout
Clinical Variability of Stickler Syndrome
2003
The Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC): a review of its utility and measurement properties
2001 Standout
Research on behavioural phenotypes: velocardiofacial syndrome (deletion 22q11.2)
2000
Prenatal diagnosis of the 22q11.2 deletion syndrome
2001
Molecular Mechanisms of Stress-Responsive Changes in Collagen and Elastin Networks in Skin
2016 Standout
Acceptance of cosmetic surgery: Scale development and validation
2005
An Investigation of Changes in Body Image following Cosmetic Surgery
2002
The Collagen Family
2010 Standout
Body Dysmorphic Disorder and Cosmetic Surgery
2006
Social skills and associated psychopathology in children with chromosome 22q11.2 deletion syndrome: implications for interventions
2011
Rethinking schizophrenia
2010 StandoutNature
Disabilities and cognition in children and adolescents with 22q11 deletion syndrome
2005
Developmental perspectives on copy number abnormalities of the 22q11.2 region
2010
Ocular findings in the chromosome 22q11.2 deletion syndrome
2006
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!
2001
Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect
2005
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
A Review of Psychosocial Outcomes for Patients Seeking Cosmetic Surgery
2004 Standout
Profiles of communication disorder in children with velocardiofacial syndrome: Comparison to children with Down syndrome
2001
The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome
2004
Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome
2008
A prospective cross-sectional study of speech in patients with the 22q11 deletion syndrome
2002
Measuring Quality of Life in Cosmetic and Reconstructive Breast Surgery: A Systematic Review of Patient-Reported Outcomes Instruments
2007
Autistic Spectrum Disorders in Velo-cardio Facial Syndrome (22q11.2 Deletion)
2006
Language skills in children with velocardiofacial syndrome (deletion 22q11.2)
2002
Genetic and orthopedic aspects of collagen disorders
2009
Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion
2001
Female College Students and Cosmetic Surgery: An Investigation of Experiences, Attitudes, and Body Image
2005
Molecular genetics of rhegmatogenous retinal detachment
2002
Core neuropsychological characteristics of children and adolescents with 22q11.2 deletion
2010
Development of a New Patient-Reported Outcome Measure for Breast Surgery: The BREAST-Q
2009 Standout
Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome
2006
22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia
2010
22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot
2013
Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study
2005
Snowflake vitreoretinal degeneration
2003
The Prevalence of Body Dysmorphic Disorder in the United States Adult Population
2008 Standout
Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene
1994
The 22q11 deletion syndromes
2000
The importance of understanding cognitive trajectories
2016
The effect of experimental presentation of thin media images on body satisfaction: A meta‐analytic review
2001 Standout
Microsurgical Treatment of Septic Nonunion of the Tibia
1996
The Body Appreciation Scale-2: Item refinement and psychometric evaluation
2014 Standout
Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome
2008
Neurodevelopmental outcome after early repair of a ventricular septal defect with or without aortic arch obstruction
2006
Awareness and identification of body dysmorphic disorder by aesthetic surgeons: Results of a survey of american society for aesthetic plastic surgery members
2002
22q11.2 deletion syndrome
2015 Standout
Cosmetic surgery: Surgical tools—Psychosocial goals
1999
Chromosome 22q11 deletion syndrome (CATCH 22): neuropsychiatric and neuropsychological aspects
2002
Factor Structure and Correlates of the Acceptance of Cosmetic Surgery Scale Among South Korean University Students
2012
Missense and nonsense mutations in the alternatively-spliced exon 2 ofCOL2A1cause the ocular variant of Stickler syndrome
2007
Quadruplex DNA: sequence, topology and structure
2006 Standout
MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q
2006
Glycosaminoglycans and their proteoglycans: host‐associated molecular patterns for initiation and modulation of inflammation
2006 Standout
A Population-Based Study of the 22q11.2 Deletion: Phenotype, Incidence, and Contribution to Major Birth Defects in the Population
2003
Body, Image and Affect in Consumer Culture
2010 Standout
Neuropsychiatric disorders in the 22q11 deletion syndrome
2001
Thin-Ideal Internalization: Mounting Evidence for a New Risk Factor for Body-Image Disturbance and Eating Pathology
2001 Standout
Psychopathology in adults with 22q11 deletion syndrome and moderate and severe intellectual disability
2014
Caught in the Act:In VivoMapping of Macrophage Infiltration in Nerve Injury by Magnetic Resonance Imaging
2003
CHARGE (Coloboma, Heart Defect, Atresia Choanae, Retarded Growth and Development, Genital Hypoplasia, Ear Anomalies/Deafness) Syndrome and Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Nonimmunologic Phenotypic Features
2009
AnFgf8mouse mutant phenocopies human 22q11 deletion syndrome
2002 StandoutNobel
IMAGEM CORPORAL NA INFÂNCIA: UMA REVISÃO INTEGRATIVA DA LITERATURA
2017 Standout
Fiber Types in Mammalian Skeletal Muscles
2011 Standout
Genitourinary Malformations in Chromosome 22q11.2 Deletion
2002
Contemporary medical tourism: Conceptualisation, culture and commodification
2012 Standout
Tipo físico ideal e satisfação com a imagem corporal de praticantes de caminhada
2005 Standout
Referential communication abilities in children with 22q11.2 deletion syndrome
2016
Clinical and molecular genetics of Stickler syndrome
1999
Identification of a Novel Splice Site Mutation of theCSPG2Gene in a Japanese Family with Wagner Syndrome
2005
Does cosmetic surgery improve psychosocial wellbeing?
2002
Quality of Life among Children with Velocardiofacial Syndrome
2010
Exacting beauty: Theory, assessment, and treatment of body image disturbance.
1999 Standout
Clothing and Embodiment: Men Managing Body Image and Appearance.
2004 Standout
MATRIX PROTEOGLYCANS: From Molecular Design to Cellular Function
1998 Standout
The chromosomal distribution of mouse odorant receptor genes.
1996 StandoutNobel
Socioeconomic Status and Psychological Function in Children with Chromosome 22q11.2 Deletion Syndrome: Implications for Genetic Counseling
2010
An examination of the psychometric properties of Brazilian Portuguese translations of the Drive for Muscularity Scale, the Swansea Muscularity Attitudes Questionnaire, and the Masculine Body Ideal Distress Scale.
2013 Standout
Early Exposure to Anesthesia and Learning Disabilities in a Population-based Birth Cohort
2009 Standout
Objectification Theory and Psychology of Women: A Decade of Advances and Future Directions
2008 Standout
Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management
2012 Standout
Subcutaneous fat layer in different donor regions used for harvesting microvascular soft tissue flaps in slender and adipose patients
2003
Works of Don LaRossa being referenced
Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion
1999
Communication disorders in the 22Q11.2 microdeletion syndrome
2000
The 22q11.2 deletion in African‐American patients: An underdiagnosed population?
2005
A Retrospective Study of Changes in Physical Symptoms and Body Image after Reduction Mammaplasty
1999
A 35-Year Experience With Syndromic Cleft Palate Repair
2014
Craniosynostosis: Another feature of the 22q11.2 deletion syndrome
2005
Bigger Is Not Always Better: Body Image Dissatisfaction in Breast Reduction and Breast Augmentation Patients
1998
Body Image Concerns of Breast Augmentation Patients
2003
Soft-Tissue Reconstruction of the Face: A Comparison of Dermal-Fat Grafting and Vascularized Tissue Transfer
1992
Treatment of Chronic Osteomyelitis Complicating Nonunion and Segmental Defects of the Tibia with Open Cancellous Bone Graft, Posterolateral Bone Graft, and Soft-tissue Transfer
1990
A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.
1993
Evaluation of Potential Modifiers of the Palatal Phenotype in the 22q11.2 Deletion Syndrome
2006
Evaluation of Potential Modifiers of the Palatal Phenotype in the 22q11.2 Deletion Syndrome
2006
Wallerian degeneration and inflammation in rat peripheral nerve detected by in vivo MR imaging.
1989
Velopharyngeal Anatomy in 22q11.2 Deletion Syndrome: A Three-Dimensional Cephalometric Analysis
2006
Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion
1999
Velopharyngeal Anatomy in 22q11.2 Deletion Syndrome: A Three-Dimensional Cephalometric Analysis
2006
Perioperative Risk Factors in Patients with 22q11.2 Deletion Syndrome Requiring Surgery for Velopharyngeal Dysfunction
2014