Published in Am J Med Genet A on November 01, 2009
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A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers. Development (2006) 2.90
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Acute disseminated encephalomyelitis. Neurology (2007) 2.84
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet (2002) 2.49
Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins. Am J Med Genet A (2004) 2.10
Analysis of component findings in 79 patients diagnosed with VACTERL association. Am J Med Genet A (2010) 2.03
Association between conformational mutations in neuroserpin and onset and severity of dementia. Lancet (2002) 2.02
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci U S A (2003) 1.98
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A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. Hum Mol Genet (2005) 1.89
The FTO gene rs9939609 obesity-risk allele and loss of control over eating. Am J Clin Nutr (2009) 1.88
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
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A (2007) 1.85
Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intern Med (2007) 1.81
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet (2002) 1.80
Decrease in hospital-wide mortality rate after implementation of a commercially sold computerized physician order entry system. Pediatrics (2010) 1.79
Adverse birth outcome among mothers with low serum cholesterol. Pediatrics (2007) 1.58
The molecular genetics of holoprosencephaly. Am J Med Genet C Semin Med Genet (2010) 1.57
Diagnosis and management of fragile X syndrome. Am Fam Physician (2005) 1.57
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am J Med Genet A (2003) 1.54
Uveal coloboma: clinical and basic science update. Curr Opin Ophthalmol (2006) 1.52
Analysis of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet C Semin Med Genet (2010) 1.51
Cbfbeta interacts with Runx2 and has a critical role in bone development. Nat Genet (2002) 1.50
Evidence-based decision support for neurological diagnosis reduces errors and unnecessary workup. J Child Neurol (2013) 1.50
Attention-deficit/hyperactivity disorder in a population isolate: linkage to loci at 4q13.2, 5q33.3, 11q22, and 17p11. Am J Hum Genet (2004) 1.49
Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet (2008) 1.48
Incidental medical information in whole-exome sequencing. Pediatrics (2012) 1.48
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein. Nat Genet (2008) 1.45
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum. Am J Med Genet A (2011) 1.44
Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. Am J Hum Genet (2008) 1.43
Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab (2011) 1.41
The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. Am J Hum Genet (2012) 1.40
Central nervous system and limb anomalies in case reports of first-trimester statin exposure. N Engl J Med (2004) 1.39
The middle interhemispheric variant of holoprosencephaly. AJNR Am J Neuroradiol (2002) 1.36
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet (2002) 1.36
Neurologic considerations in propionic acidemia. Mol Genet Metab (2011) 1.34
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. Am J Med Genet A (2008) 1.32
Evidence for inheritance in patients with VACTERL association. Hum Genet (2010) 1.29
Predictors of ARF after cardiac surgical procedures. Am J Kidney Dis (2003) 1.28
The decision to continue: the experiences and needs of parents who receive a prenatal diagnosis of holoprosencephaly. Am J Med Genet (2002) 1.28
Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors. Am J Hum Genet (2011) 1.25
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. Hum Mutat (2013) 1.25
Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1. Dev Med Child Neurol (2012) 1.24
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism. Hum Mutat (2009) 1.23
The stability of metabolic syndrome in children and adolescents. J Clin Endocrinol Metab (2009) 1.23
Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. Am J Med Genet C Semin Med Genet (2010) 1.23
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly. Mol Genet Metab (2009) 1.21
Mutations in the human SIX3 gene in holoprosencephaly are loss of function. Hum Mol Genet (2008) 1.19
Latent class subtyping of attention-deficit/hyperactivity disorder and comorbid conditions. J Am Acad Child Adolesc Psychiatry (2008) 1.17
Influence of serum leptin on weight and body fat growth in children at high risk for adult obesity. J Clin Endocrinol Metab (2006) 1.16
Attention-deficit/hyperactivity disorder and comorbid disruptive behavior disorders: evidence of pleiotropy and new susceptibility loci. Biol Psychiatry (2006) 1.12
Molecular testing for hereditary retinal disease as part of clinical care. Arch Ophthalmol (2007) 1.12
Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). Genet Med (2002) 1.11
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. J Clin Endocrinol Metab (2011) 1.10
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. J Med Genet (2009) 1.10
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. Hum Genet (2002) 1.09
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. Genet Med (2003) 1.09
Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association. Congenit Anom (Kyoto) (2011) 1.08
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A (2007) 1.07
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet (2010) 1.06
A novel SIX3 mutation segregates with holoprosencephaly in a large family. Am J Med Genet A (2009) 1.05
Fetal alcohol spectrum disorders. Am Fam Physician (2005) 1.04
How a Hedgehog might see holoprosencephaly. Hum Mol Genet (2003) 1.03
Energy intake and energy expenditure among children with polymorphisms of the melanocortin-3 receptor. Am J Clin Nutr (2009) 1.03
Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects. J Pediatr Psychol (2006) 1.03
Functional analysis of mutations in TGIF associated with holoprosencephaly. Mol Genet Metab (2006) 1.02
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Holoprosencephaly: recommendations for diagnosis and management. Curr Opin Pediatr (2010) 1.02
Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature. Am J Med Genet C Semin Med Genet (2010) 1.01
Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans. Hum Genet (2009) 1.01
Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY. Am J Med Genet C Semin Med Genet (2013) 1.01
Psychological symptoms and insulin sensitivity in adolescents. Pediatr Diabetes (2009) 1.01
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2013) 1.00
Review: Genetics of attention deficit/hyperactivity disorder. J Pediatr Psychol (2008) 1.00
Clinical NOE 13C MRS for neuropsychiatric disorders of the frontal lobe. J Magn Reson (2008) 0.99
A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly. Am J Med Genet A (2004) 0.99
Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH. Hum Genet (2011) 0.98
Holoprosencephaly due to numeric chromosome abnormalities. Am J Med Genet C Semin Med Genet (2010) 0.98
The impact of an online social network with wireless monitoring devices on physical activity and weight loss. J Prim Care Community Health (2012) 0.96
Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility. Am J Med Genet B Neuropsychiatr Genet (2010) 0.96
The use of neuroimaging in the diagnosis of mitochondrial disease. Dev Disabil Res Rev (2010) 0.96
Attention-deficit/hyperactivity disorder and comorbidities in 18 Paisa Colombian multigenerational families. J Am Acad Child Adolesc Psychiatry (2004) 0.95
Attention deficit/hyperactivity disorder (ADHD): complex phenotype, simple genotype? Genet Med (2004) 0.94
SIX3 mutations with holoprosencephaly. Am J Med Genet A (2006) 0.94
Klinefelter syndrome. Am Fam Physician (2005) 0.93
A common genetic network underlies substance use disorders and disruptive or externalizing disorders. Hum Genet (2012) 0.92
Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome. Acta Paediatr (2011) 0.92
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. Pediatr Neurol (2010) 0.91
Imaging response to chemotherapy with RMP-7 and carboplatin in malignant glioma: size matters but speed does not. J Neurooncol (2002) 0.90
Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism. Am J Med Genet C Semin Med Genet (2010) 0.90