Published in J Dev Behav Pediatr on February 10, 2010
Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders. Am J Hum Genet (2012) 1.52
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am J Hum Genet (2010) 1.49
The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome. Am J Med Genet A (2011) 1.42
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. PLoS Biol (2010) 1.36
Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen (2015) 1.00
Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits. Hum Mol Genet (2012) 0.97
Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome. BMC Mol Biol (2010) 0.94
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet (2015) 0.94
Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior. Curr Genomics (2010) 0.93
Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive. J Pediatr (2010) 0.90
POGZ truncating alleles cause syndromic intellectual disability. Genome Med (2016) 0.90
Cardiovascular findings in duplication 17p11.2 syndrome. Genet Med (2011) 0.82
Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism. Brain Dev (2011) 0.82
Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes. J Pediatr Genet (2015) 0.77
Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior. Am J Med Genet A (2012) 0.76
Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil. PLoS One (2014) 0.75
RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome. J Pediatr Genet (2017) 0.75
Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat (2010) 2.93
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res (2002) 1.91
Enhancing exposure to genetics and genomics through an innovative medical school curriculum. Genet Med (2011) 1.79
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet (2013) 1.76
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat (2010) 1.66
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Hum Genet (2004) 1.57
Rural-urban differences in depression prevalence: implications for family medicine. Fam Med (2006) 1.56
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am J Hum Genet (2010) 1.49
The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome. Am J Med Genet A (2011) 1.42
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Eur J Hum Genet (2009) 1.40
RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. Am J Med Genet A (2006) 1.19
Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Hum Mol Genet (2003) 1.17
Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). Genet Med (2002) 1.11
Trends in colon cancer screening procedures in the US Medicare and Tricare populations: 1999-2001. Prev Med (2006) 1.09
SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction. Am J Med Genet A (2011) 1.06
Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications. Am J Med Genet A (2005) 1.05
Common recurrent microduplication syndromes: diagnosis and management in clinical practice. Am J Med Genet A (2010) 1.03
A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. PLoS Genet (2012) 1.03
The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet (2011) 1.01
HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. Am J Med Genet A (2010) 0.99
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Eur J Hum Genet (2005) 0.96
Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome. J Allergy Clin Immunol (2011) 0.94
Cognitive and adaptive behavior profiles in Smith-Magenis syndrome. J Dev Behav Pediatr (2006) 0.94
Trisomy 14 mosaicism: a case report and review of the literature. J Perinatol (2004) 0.93
Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. Am J Med Genet A (2010) 0.93
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet (2013) 0.93
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet (2012) 0.91
Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive. J Pediatr (2010) 0.90
Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome. Am J Med Genet A (2013) 0.90
Leisure-time physical activity and health-care utilization in older adults. J Aging Phys Act (2006) 0.90
DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation. Adv Otorhinolaryngol (2002) 0.87
Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations. Am J Med Genet A (2011) 0.86
Recruitment and retention of emergency medical technicians: a qualitative study. J Allied Health (2005) 0.86
Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation. Am J Med Genet (2002) 0.85
Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]. J Child Neurol (2006) 0.83
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development. Hum Mol Genet (2013) 0.83
Race and ethnicity differences in reporting of depressive symptoms. Adm Policy Ment Health (2007) 0.82
Cardiovascular findings in duplication 17p11.2 syndrome. Genet Med (2011) 0.82
Continuity of health insurance coverage and perceived health at age 40. Med Care Res Rev (2008) 0.82
Central nervous system malformations in oral-facial-digital syndrome, type 1. Am J Med Genet A (2005) 0.81
Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis. Prenat Diagn (2002) 0.80
Early alcohol use, rural residence, and adult employment. J Stud Alcohol Drugs (2008) 0.78
Health insurance for Americans approaching age sixty-five: an analysis of options for incremental reform. J Health Polit Policy Law (2003) 0.78
Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation. Int J Pediatr Endocrinol (2011) 0.77
Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis. J Child Neurol (2008) 0.77
Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome? Clin Dysmorphol (2011) 0.77
Relative financial burden of health care expenditures. Soc Work Public Health (2010) 0.77
Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation. Am J Med Genet A (2003) 0.76
What syndrome is this? Cockayne syndrome. Pediatr Dermatol (2003) 0.76
Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies. Am J Med Genet A (2009) 0.76
Holoprosencephaly in an 8.5-week triploidy gestation. Clin Dysmorphol (2009) 0.75
The hand in Smith-Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis. Pediatr Radiol (2002) 0.75
Plain Language and Health Literacy for the Oncology Family Caregiver: Examining an English/Spanish mHealth Resource. Semin Oncol Nurs (2017) 0.75
Handing the pen to the patient: reflective writing for children and families affected by genetic conditions. Am J Med Genet A (2014) 0.75
Stress and well-being among parents of children with Potocki-Lupski syndrome. J Genet Couns (2013) 0.75
Use of information technology for medication management in residential care facilities: correlates of facility characteristics. J Med Syst (2015) 0.75
Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol. Am J Med Genet A (2005) 0.75