Published in J Autism Dev Disord on December 01, 2004
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet (2008) 5.44
Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior. J Neurosci (2010) 2.57
SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice. PLoS One (2008) 2.27
Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice. Autism Res (2008) 2.08
Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism. J Med Genet (2006) 1.54
Autism Genetic Database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites. BMC Med Genet (2009) 1.11
Autism spectrum disorder and Klinefelter syndrome. Eur Child Adolesc Psychiatry (2007) 1.06
Synaptic proteins and receptors defects in autism spectrum disorders. Front Cell Neurosci (2014) 0.98
Caenorhabditis elegans as an experimental tool for the study of complex neurological diseases: Parkinson's disease, Alzheimer's disease and autism spectrum disorder. Invert Neurosci (2011) 0.92
A sex-specific association of common variants of neuroligin genes (NLGN3 and NLGN4X) with autism spectrum disorders in a Chinese Han cohort. Behav Brain Funct (2011) 0.89
Functional phenotypic rescue of Caenorhabditis elegans neuroligin-deficient mutants by the human and rat NLGN1 genes. PLoS One (2012) 0.78
Neuroligin modulates the locomotory dopaminergic and serotonergic neuronal pathways of C. elegans. Neurogenetics (2013) 0.75
Developing Medications Targeting Glutamatergic Dysfunction in Autism: Progress to Date. CNS Drugs (2015) 0.75
Modeling of Autism Using Organoid Technology. Mol Neurobiol (2016) 0.75
Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord (1994) 42.80
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet (2003) 15.31
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet (2004) 5.15
Sex differences in pervasive developmental disorders. J Autism Dev Disord (1993) 1.93
No association between HOXA1 and HOXB1 genes and autism spectrum disorders (ASD). J Med Genet (2002) 1.04
Nutritional phases in Prader-Willi syndrome. Am J Med Genet A (2011) 2.08
Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med (2005) 2.04
Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome. Am J Med Genet A (2008) 1.96
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet (2011) 1.94
Neural mechanisms associated with food motivation in obese and healthy weight adults. Obesity (Silver Spring) (2009) 1.88
Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics (2004) 1.81
Plasma obestatin and ghrelin levels in subjects with Prader-Willi syndrome. Am J Med Genet A (2007) 1.51
Energy expenditure and physical activity in Prader-Willi syndrome: comparison with obese subjects. Am J Med Genet A (2007) 1.40
Lack of association between Rh status, Rh immune globulin in pregnancy and autism. Am J Med Genet A (2007) 1.39
Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome. Pediatrics (2006) 1.36
Neural mechanisms underlying hyperphagia in Prader-Willi syndrome. Obesity (Silver Spring) (2006) 1.30
X chromosome gene expression in human tissues: male and female comparisons. Genomics (2006) 1.26
Feasibility and relevance of examining lymphoblastoid cell lines to study role of microRNAs in autism. Autism Res (2008) 1.21
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A (2007) 1.16
Autism Genetic Database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites. BMC Med Genet (2009) 1.11
Abnormal transient pupillary light reflex in individuals with autism spectrum disorders. J Autism Dev Disord (2009) 1.11
ANKRD11 gene deletion in a 17-year-old male. Clin Dysmorphol (2011) 1.09
Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities. Genet Test (2007) 1.07
snoTARGET shows that human orphan snoRNA targets locate close to alternative splice junctions. Gene (2007) 1.07
Gene expression in cardiac tissues from infants with idiopathic conotruncal defects. BMC Med Genomics (2011) 1.07
Validation of the Agilent 244K oligonucleotide array-based comparative genomic hybridization platform for clinical cytogenetic diagnosis. Am J Clin Pathol (2009) 1.07
Gastric rupture and necrosis in Prader-Willi syndrome. J Pediatr Gastroenterol Nutr (2007) 1.06
Whole genome microarray analysis of gene expression in Prader-Willi syndrome. Am J Med Genet A (2007) 1.06
Investigation of NRXN1 deletions: clinical and molecular characterization. Am J Med Genet A (2013) 1.06
Noncoding RNA expression in myocardium from infants with tetralogy of Fallot. Circ Cardiovasc Genet (2012) 1.05
Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome. Am J Med Genet A (2005) 1.04
Whole genome microarray analysis of gene expression in subjects with fragile X syndrome. Genet Med (2007) 1.04
A 9-year-old male with a duplication of chromosome 3p25.3p26.2: clinical report and gene expression analysis. Am J Med Genet A (2006) 1.03
Newborn with anophthalmia and features of Fryns syndrome. Pediatr Dev Pathol (2002) 1.00
Genetic studies of complex human diseases: characterizing SNP-disease associations using Bayesian networks. BMC Syst Biol (2012) 1.00
Development and validation of a measure of dysmorphology: useful for autism subgroup classification. Am J Med Genet A (2008) 0.99
Plasma peptide YY and ghrelin levels in infants and children with Prader-Willi syndrome. J Pediatr Endocrinol Metab (2004) 0.98
Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness. Arch Otolaryngol Head Neck Surg (2005) 0.98
Atypical pupillary light reflex and heart rate variability in children with autism spectrum disorder. J Autism Dev Disord (2013) 0.97
Defining autism subgroups: a taxometric solution. J Autism Dev Disord (2008) 0.97
Body composition and fatness patterns in Prader-Willi syndrome: comparison with simple obesity. Obesity (Silver Spring) (2006) 0.96
Mass Screening for Severe Problem Behavior among Infants and Toddlers In Peru. J Ment Health Res Intellect Disabil (2012) 0.96
Strategies for pathway analysis from GWAS data. Curr Protoc Hum Genet (2011) 0.95
Cytogenetic heteromorphisms: survey results and reporting practices of giemsa-band regions that we have pondered for years. Arch Pathol Lab Med (2006) 0.95
A clinical report and further delineation of the 14q32 deletion syndrome. Clin Dysmorphol (2011) 0.95
Risk factors for self-injury, aggression, and stereotyped behavior among young children at risk for intellectual and developmental disabilities. Am J Intellect Dev Disabil (2014) 0.94
Sex-specific lateralization of contraction anisocoria in transient pupillary light reflex. Invest Ophthalmol Vis Sci (2008) 0.93
Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD. Genomics (2005) 0.93
Evidence for selective inhibitory impairment in individuals with autism spectrum disorder. Neuropsychology (2011) 0.92
Cloning of the papaya chromoplast-specific lycopene beta-cyclase, CpCYC-b, controlling fruit flesh color reveals conserved microsynteny and a recombination hot spot. Plant Physiol (2010) 0.92
X-chromosome inactivation patterns in females with Prader-Willi syndrome. Am J Med Genet A (2007) 0.91
Quantitative real-time polymerase chain reaction for the verification of genomic imbalances detected by microarray-based comparative genomic hybridization. Genet Test Mol Biomarkers (2009) 0.91
A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes. Am J Med Genet A (2010) 0.91
DFNA2/KCNQ4 and its manifestations. Adv Otorhinolaryngol (2002) 0.90
Metabolic syndrome in South Asian immigrants: more than low HDL requiring aggressive management. Lipids Health Dis (2011) 0.90
Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader-Willi syndrome. Am J Med Genet A (2007) 0.89
Genetics and mitochondrial abnormalities in autism spectrum disorders: a review. Curr Genomics (2011) 0.89
Facial phenotypes in subgroups of prepubertal boys with autism spectrum disorders are correlated with clinical phenotypes. Mol Autism (2011) 0.89
IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features. Eur J Med Genet (2011) 0.85
FEPI-MB: identifying SNPs-disease association using a Markov Blanket-based approach. BMC Bioinformatics (2011) 0.85
Deaths due to choking in Prader-Willi syndrome. Am J Med Genet A (2007) 0.84
Autism families with a high incidence of alcoholism. J Autism Dev Disord (2003) 0.84
The neuroanatomy of genetic subtype differences in Prader-Willi syndrome. Am J Med Genet B Neuropsychiatr Genet (2012) 0.84
An 18-year follow-up report on an infant with a duplication of 9q34. Am J Med Genet A (2010) 0.83
A clinical case report and literature review of the 3q29 microdeletion syndrome. Clin Dysmorphol (2015) 0.83
Ghrelin, peptide YY and their receptors: gene expression in brain from subjects with and without Prader-Willi syndrome. Int J Mol Med (2005) 0.82
Weak gender effects on transient pupillary light reflex. Auton Neurosci (2009) 0.82
Double-blind, randomized placebo-controlled clinical trial of benfotiamine for severe alcohol dependence. Drug Alcohol Depend (2013) 0.81
Drowning as a cause of death in Angelman syndrome. Am J Ment Retard (2002) 0.81
1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay. Eur J Med Genet (2010) 0.81
Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome. Eur J Hum Genet (2013) 0.80
Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome. Genet Test Mol Biomarkers (2011) 0.80
Eye abnormalities in Fryns syndrome. Am J Med Genet A (2004) 0.80
X chromosome inactivation in women with alcoholism. Alcohol Clin Exp Res (2012) 0.80
Hyperphagia: current concepts and future directions proceedings of the 2nd international conference on hyperphagia. Obesity (Silver Spring) (2014) 0.80
TPH2 G/T polymorphism is associated with hyperphagia, IQ, and internalizing problems in Prader-Willi syndrome. J Child Psychol Psychiatry (2011) 0.80
Loxapine add-on for adolescents and adults with autism spectrum disorders and irritability. J Child Adolesc Psychopharmacol (2015) 0.79
12-year-old boy with a 4q35.2 microdeletion and involvement of MTNR1A, FAT1, and F11 genes. Clin Dysmorphol (2012) 0.79
Comparison of biological specimens and DNA collection methods for PCR amplification and microarray analysis. Clin Chem Lab Med (2013) 0.79
Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome. J Clin Invest (2016) 0.79
APOA1 gene polymorphisms in the South Asian immigrant population in the United States. Indian J Hum Genet (2011) 0.79
Apo lipoprotein A1 gene polymorphisms predict cardio-metabolic risk in South Asian immigrants. Dis Markers (2012) 0.79
Development and implementation of electronic growth charts for infants with Prader-Willi syndrome. Am J Med Genet A (2012) 0.79
Clonality studies in sacral chordoma. Cancer Genet Cytogenet (2006) 0.79
Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts. Am J Med Genet A (2008) 0.79
Oculoauriculofrontonasal syndrome (OAFNS) in a nine-month-old male. Am J Med Genet (2002) 0.79
Exon microarray analysis of human dorsolateral prefrontal cortex in alcoholism. Alcohol Clin Exp Res (2014) 0.78
Facial structure analysis separates autism spectrum disorders into meaningful clinical subgroups. J Autism Dev Disord (2015) 0.78
Follicle stimulating and leutinizing hormones, estradiol and testosterone in Prader-Willi syndrome. Am J Med Genet A (2008) 0.78
An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotype. Am J Med Genet A (2010) 0.77
Autistic and dysmorphic features associated with a submicroscopic 2q33.3-q34 interstitial deletion detected by array comparative genomic hybridization. Am J Med Genet A (2008) 0.77
Genomics of childhood obesity. Curr Genomics (2011) 0.77
Deletion of TOP3B Is Associated with Cognitive Impairment and Facial Dysmorphism. Cytogenet Genome Res (2016) 0.76
TPH2 polymorphisms and expression in Prader-Willi syndrome subjects with differing genetic subtypes. J Neurodev Disord (2010) 0.76