Published in Am J Med Genet A on June 18, 2012
Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome. JAMA Psychiatry (2015) 1.66
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Failure to thrive as presentation in a patient with 22q11.2 microdeletion. Ital J Pediatr (2016) 0.75
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. Nat Commun (2017) 0.75
A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med (2011) 8.26
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet (2002) 6.29
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res (2009) 4.32
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet (2010) 3.64
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet (2009) 3.42
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet (2007) 3.26
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA (2009) 2.72
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet (2008) 2.68
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet (2007) 2.59
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet (2008) 2.59
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
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
Surgical airway management in Pierre Robin sequence: is there a role for tongue-lip adhesion? Cleft Palate Craniofac J (2003) 2.37
Apolipoprotein E genotype and neurodevelopmental sequelae of infant cardiac surgery. J Thorac Cardiovasc Surg (2003) 2.25
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 mechanism for gene-environment interaction in the etiology of congenital scoliosis. Cell (2012) 2.08
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet A (2006) 1.94
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
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst (2003) 1.83
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum Mol Genet (2003) 1.82
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat (2004) 1.76
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
Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome. Am J Med Genet (2002) 1.61
Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study. Neuroimage (2005) 1.55
Clinical and molecular diagnosis should be consistent. Am J Med Genet A (2003) 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
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A (2011) 1.43
Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion. Am J Med Genet A (2004) 1.40
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A (2006) 1.38
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. J Med Genet (2012) 1.33
Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays. Hum Mutat (2006) 1.31
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21). Am J Hum Genet (2010) 1.30
Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. Am J Med Genet A (2009) 1.27
Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions. Cereb Cortex (2008) 1.15
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
Genetic counseling for the 22q11.2 deletion. Dev Disabil Res Rev (2008) 1.08
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A (2007) 1.07
Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia. J Pediatr (2003) 1.07
Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome. Am J Med Genet A (2012) 1.06
[Congenital hypopituitarism: report of 23 cases]. Rev Med Chil (2008) 1.06
The 22q11.2 deletion in African-American patients: an underdiagnosed population? Am J Med Genet A (2005) 1.05
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. Am J Med Genet A (2013) 1.05
Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum. Am J Med Genet A (2010) 1.05
T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood (2003) 1.04
Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals. Am J Med Genet A (2004) 1.04
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome. Am J Med Genet A (2008) 1.03
CD4(+) CD25(+) T-cell production in healthy humans and in patients with thymic hypoplasia. Clin Diagn Lab Immunol (2002) 1.02
Autoimmune disorders in Kabuki syndrome. Am J Med Genet A (2005) 1.02
Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. Am J Med Genet A (2003) 1.01
Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion. Am J Med Genet A (2004) 1.00
Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases. Am J Med Genet A (2008) 0.99
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Am J Med Genet A (2004) 0.99
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. Am J Med Genet A (2010) 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
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. Am J Med Genet A (2014) 0.98
Autosomal dominant inheritance of infantile myofibromatosis. Am J Med Genet A (2004) 0.96
Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 Deletion Syndrome. J Affect Disord (2009) 0.96
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. Am J Hum Genet (2013) 0.96
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
Metopic craniosynostosis due to mutations in GLI3: A novel association. Am J Med Genet A (2010) 0.94
Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome. Child Neuropsychol (2005) 0.94
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
A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome. Am J Med Genet A (2009) 0.92
The changing epidemiologic spectrum of single-suture synostoses. Plast Reconstr Surg (2008) 0.91
Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Pediatrics (2003) 0.91
Asymmetric crying facies in the 22q11.2 deletion syndrome: implications for future screening. Clin Pediatr (Phila) (2013) 0.91
Molecular analysis of congenital scoliosis: a candidate gene approach. Hum Genet (2005) 0.91
Immune abnormalities are a frequent manifestation of Kabuki syndrome. Am J Med Genet A (2005) 0.90