Published in Am J Psychiatry on December 01, 2013
Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets. Biol Psychiatry (2014) 1.46
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Fetal growth and gestational factors as predictors of schizophrenia in 22q11.2 deletion syndrome. Genet Med (2015) 0.78
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Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome. Am J Psychiatry (2010) 1.57
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays. Hum Mol Genet (2013) 1.44
Perinatal choline effects on neonatal pathophysiology related to later schizophrenia risk. Am J Psychiatry (2013) 1.34
Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era. Appl Clin Genet (2012) 1.07
Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities. Eur J Hum Genet (2012) 1.03
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Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet (2002) 6.29
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet (2008) 2.84
Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr (2011) 2.57
Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. Am J Med Genet (2002) 2.50
Surgical airway management in Pierre Robin sequence: is there a role for tongue-lip adhesion? Cleft Palate Craniofac J (2003) 2.37
Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Am J Psychiatry (2014) 2.15
A method for accurate detection of genomic microdeletions using real-time quantitative PCR. BMC Genomics (2005) 2.04
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A (2005) 2.03
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Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet (2002) 1.88
Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome. J Autism Dev Disord (2005) 1.87
Identification of a schizophrenia-associated functional noncoding variant in NOS1AP. Am J Psychiatry (2009) 1.85
The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5). J Am Coll Cardiol (2005) 1.83
The co-occurrence of early onset Parkinson disease and 22q11.2 deletion syndrome. Am J Med Genet A (2009) 1.82
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum Mol Genet (2003) 1.82
Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications. JAMA Neurol (2013) 1.81
A major susceptibility locus for specific language impairment is located on 13q21. Am J Hum Genet (2002) 1.79
The relationship of postoperative electrographic seizures to neurodevelopmental outcome at 1 year of age after neonatal and infant cardiac surgery. J Thorac Cardiovasc Surg (2005) 1.65
Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study. Neuroimage (2005) 1.55
Linkage disequilibrium mapping of schizophrenia susceptibility to the CAPON region of chromosome 1q22. Am J Hum Genet (2004) 1.55
Incomplete knowledge of the clinical context as a barrier to interpreting incidental genetic research findings. Am J Bioeth (2013) 1.48
Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. PLoS Genet (2012) 1.44
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays. Hum Mol Genet (2013) 1.44
Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome. Am J Psychiatry (2004) 1.43
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A (2006) 1.38
Clinically detectable copy number variations in a Canadian catchment population of schizophrenia. J Psychiatr Res (2010) 1.30
Structural brain abnormalities in patients with schizophrenia and 22q11 deletion syndrome. Biol Psychiatry (2002) 1.27
1q21.1 Microduplication expression in adults. Genet Med (2012) 1.25
Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome. Hum Genet (2006) 1.17
Aortic root dilation in patients with 22q11.2 deletion syndrome. Am J Med Genet A (2009) 1.14
A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children. Dev Psychopathol (2005) 1.13
Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions. J Med Genet (2011) 1.13
Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease. Int J Cardiol (2008) 1.12
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. Hum Mol Genet (2013) 1.11
Childhood head injury and expression of schizophrenia in multiply affected families. Arch Gen Psychiatry (2003) 1.08
Evaluating genetic counseling for family members of individuals with schizophrenia in the molecular age. Schizophr Bull (2012) 1.08
Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion. Schizophr Res (2012) 1.08
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Fine mapping of the schizophrenia susceptibility locus on chromosome 1q22. Hum Hered (2002) 1.06
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat (2011) 1.05
T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood (2003) 1.04
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome. Am J Med Genet A (2008) 1.03
Association of schizophrenia in 22q11.2 deletion syndrome and gray matter volumetric deficits in the superior temporal gyrus. Am J Psychiatry (2011) 1.03
Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome. Am J Med Genet B Neuropsychiatr Genet (2009) 1.02
Autoimmune disorders in Kabuki syndrome. Am J Med Genet A (2005) 1.02
Recognizing a common genetic syndrome: 22q11.2 deletion syndrome. CMAJ (2008) 1.01
Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. Am J Med Genet A (2003) 1.01
Evaluation of a susceptibility gene for schizophrenia: genotype based meta-analysis of RGS4 polymorphisms from thirteen independent samples. Biol Psychiatry (2006) 1.00
Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion. Am J Med Genet A (2004) 1.00
Hippocampal malrotation is associated with chromosome 22q11.2 microdeletion. Can J Neurol Sci (2013) 0.99
Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. Genet Med (2008) 0.98
Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Am J Med Genet A (2006) 0.98
Heritability of neurocognitive traits in familial schizophrenia. Am J Med Genet B Neuropsychiatr Genet (2009) 0.97
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. Am J Hum Genet (2013) 0.96
Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 Deletion Syndrome. J Affect Disord (2009) 0.96
Evaluating genetic counseling for individuals with schizophrenia in the molecular age. Schizophr Bull (2012) 0.96
miRNA-mediated risk for schizophrenia in 22q11.2 deletion syndrome. Front Genet (2012) 0.96
The ever-evolving concept of clinical significance and the potential for sins of omission in genetic research. Am J Bioeth (2012) 0.95
Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome. J Pediatr (2003) 0.95
Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome. Brain Res (2006) 0.95
Functional outcomes of adults with 22q11.2 deletion syndrome. Genet Med (2012) 0.94
Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome. Child Neuropsychol (2005) 0.94
22q11.2 deletion syndrome: attitudes towards disclosing the risk of psychiatric illness. J Genet Couns (2012) 0.93
Regional brain abnormalities in 22q11.2 deletion syndrome: association with cognitive abilities and behavioral symptoms. Neurocase (2004) 0.93
A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay. Eur J Med Genet (2008) 0.92
Increasing genotype-phenotype model determinism: application to bivariate reading/language traits and epistatic interactions in language-impaired families. Hum Hered (2010) 0.92
Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome. Am J Med Genet A (2015) 0.91
Asymmetric crying facies in the 22q11.2 deletion syndrome: implications for future screening. Clin Pediatr (Phila) (2013) 0.91
Premorbid adjustment and schizophrenia in individuals with 22q11.2 deletion syndrome. Schizophr Res (2013) 0.90
Patterns of cardiac and extracardiac anomalies in adults with tetralogy of fallot. Am Heart J (2011) 0.90
Immune abnormalities are a frequent manifestation of Kabuki syndrome. Am J Med Genet A (2005) 0.90
Chromosomal and cardiovascular anomalies associated with congenital laryngeal web. Int J Pediatr Otorhinolaryngol (2002) 0.90
Childhood trauma and genetic factors in familial schizophrenia associated with the NOS1AP gene. Schizophr Res (2010) 0.89
Ablepharon-Macrostomia syndrome--extension of the phenotype. Am J Med Genet A (2011) 0.89
The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis. Plast Reconstr Surg (2008) 0.89
Radiographic study of the upper cervical spine in the 22q11.2 deletion syndrome. J Bone Joint Surg Am (2004) 0.89
Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2. Am J Med Genet A (2009) 0.88
Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome. Am J Med Genet A (2007) 0.88
Voxel-based morphometry and automated lobar volumetry: the trade-off between spatial scale and statistical correction. Neuroimage (2009) 0.87
Phenotype matters: the case for careful characterization of relevant traits. Am J Psychiatry (2008) 0.87
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. Am J Med Genet A (2014) 0.87
Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children. Am J Med Genet A (2012) 0.86
Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome. Am J Med Genet B Neuropsychiatr Genet (2013) 0.85
13q13.1-q13.2 deletion in tetralogy of Fallot: clinical report and a literature review. Int J Cardiol (2010) 0.84
Heritability of schizophrenia and major affective disorder as a function of age, in the presence of strong cohort effects. Eur Arch Psychiatry Clin Neurosci (2005) 0.84
A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21. Am J Med Genet A (2010) 0.84
Genitourinary malformations in chromosome 22q11.2 deletion. J Urol (2002) 0.84
Congenital heart defects in oculodentodigital dysplasia: Report of two cases. Am J Med Genet A (2013) 0.84
Genetic covariation underlying reading, language and related measures in a sample selected for specific language impairment. Behav Genet (2010) 0.83
Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome. Clin Endocrinol (Oxf) (2014) 0.83
Parental origin, DNA structure, and the schizophrenia spectrum. Am J Psychiatry (2011) 0.83
Genetic predictors of response to treatment with citalopram in depression secondary to traumatic brain injury. Brain Inj (2010) 0.82