Published in Dev Med Child Neurol on November 16, 2012
Distribution and Within-Family Specificity of Quantitative Autistic Traits in Patients with Neurofibromatosis Type I. J Pediatr (2015) 1.14
Autism traits in the RASopathies. J Med Genet (2013) 0.95
Autism spectrum disorder profile in neurofibromatosis type I. J Autism Dev Disord (2015) 0.93
Social learning and amygdala disruptions in Nf1 mice are rescued by blocking p21-activated kinase. Nat Neurosci (2014) 0.90
mTOR, a Potential Target to Treat Autism Spectrum Disorder. CNS Neurol Disord Drug Targets (2016) 0.84
CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies. Am J Med Genet A (2014) 0.81
Using genetic findings in autism for the development of new pharmaceutical compounds. Psychopharmacology (Berl) (2013) 0.80
Update from the 2013 International Neurofibromatosis Conference. Am J Med Genet A (2014) 0.78
Neurofibromatosis type 1 and chronic neurological conditions in the United States: an administrative claims analysis. Genet Med (2014) 0.77
Neurofibromin Loss of Function Drives Excessive Grooming in Drosophila. G3 (Bethesda) (2016) 0.77
Autism spectrum disorder symptomatology in children with neurofibromatosis type 1. Dev Med Child Neurol (2013) 0.76
Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1: A Study of the International NF1-ASD Consortium Team (INFACT). JAMA Psychiatry (2016) 0.75
Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders. PLoS Genet (2017) 0.75
Brain and behaviour phenotyping of a mouse model of neurofibromatosis type-1: an MRI/DTI study on social cognition. Genes Brain Behav (2016) 0.75
Brief Report: The Prevalence of Neurofibromatosis Type 1 among Children with Autism Spectrum Disorder Identified by the Autism and Developmental Disabilities Monitoring Network. J Autism Dev Disord (2016) 0.75
Role of SIRT1/PGC-1α in mitochondrial oxidative stress in autistic spectrum disorder. Neuropsychiatr Dis Treat (2017) 0.75
Study design and cohort characteristics of the Childhood Cancer Survivor Study: a multi-institutional collaborative project. Med Pediatr Oncol (2002) 8.03
The Childhood Cancer Survivor Study: a National Cancer Institute-supported resource for outcome and intervention research. J Clin Oncol (2009) 5.86
New primary neoplasms of the central nervous system in survivors of childhood cancer: a report from the Childhood Cancer Survivor Study. J Natl Cancer Inst (2006) 3.90
Long-term outcomes among adult survivors of childhood central nervous system malignancies in the Childhood Cancer Survivor Study. J Natl Cancer Inst (2009) 3.52
Postoperative cerebellar mutism syndrome following treatment of medulloblastoma: neuroradiographic features and origin. J Neurosurg Pediatr (2010) 2.92
A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers. Development (2006) 2.90
Recurrence patterns across medulloblastoma subgroups: an integrated clinical and molecular analysis. Lancet Oncol (2013) 2.82
Stroke as a late treatment effect of Hodgkin's Disease: a report from the Childhood Cancer Survivor Study. J Clin Oncol (2005) 2.76
Late-occurring stroke among long-term survivors of childhood leukemia and brain tumors: a report from the Childhood Cancer Survivor Study. J Clin Oncol (2006) 2.71
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet (2002) 2.49
Incidence and severity of postoperative cerebellar mutism syndrome in children with medulloblastoma: a prospective study by the Children's Oncology Group. J Neurosurg (2006) 2.31
Neurocognitive status in long-term survivors of childhood CNS malignancies: a report from the Childhood Cancer Survivor Study. Neuropsychology (2009) 2.29
Chronic disease in the Childhood Cancer Survivor Study cohort: a review of published findings. J Clin Oncol (2009) 2.23
Psychological outcomes in long-term survivors of childhood brain cancer: a report from the childhood cancer survivor study. J Clin Oncol (2004) 2.15
Endocrine and cardiovascular late effects among adult survivors of childhood brain tumors: Childhood Cancer Survivor Study. Cancer (2003) 2.11
Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins. Am J Med Genet A (2004) 2.10
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet (2010) 2.08
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
Medulloblastoma in childhood: new biological advances. Lancet Neurol (2007) 1.93
A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. Hum Mol Genet (2005) 1.89
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
Randomized study of two chemotherapy regimens for treatment of low-grade glioma in young children: a report from the Children's Oncology Group. J Clin Oncol (2012) 1.88
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet (2002) 1.80
Age-related non-Gaussian diffusion patterns in the prefrontal brain. J Magn Reson Imaging (2008) 1.72
Age of methylphenidate treatment initiation in children with ADHD and later substance abuse: prospective follow-up into adulthood. Am J Psychiatry (2008) 1.71
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
Cytogenetic prognostication within medulloblastoma subgroups. J Clin Oncol (2014) 1.56
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am J Med Genet A (2003) 1.54
Long-term outcomes of adult survivors of childhood cancer. Cancer (2005) 1.53
Preliminary evidence of altered gray and white matter microstructural development in the frontal lobe of adolescents with attention-deficit hyperactivity disorder: a diffusional kurtosis imaging study. J Magn Reson Imaging (2011) 1.52
Analysis of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet C Semin Med Genet (2010) 1.51
A molecular biology and phase II trial of lapatinib in children with refractory CNS malignancies: a pediatric brain tumor consortium study. J Neurooncol (2013) 1.51
The role of INI1 and the SWI/SNF complex in the development of rhabdoid tumors: meeting summary from the workshop on childhood atypical teratoid/rhabdoid tumors. Cancer Res (2002) 1.51
Cbfbeta interacts with Runx2 and has a critical role in bone development. Nat Genet (2002) 1.50
Lack of efficacy of bevacizumab plus irinotecan in children with recurrent malignant glioma and diffuse brainstem glioma: a Pediatric Brain Tumor Consortium study. J Clin Oncol (2010) 1.50
Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1. Neurology (2005) 1.50
Amygdalofrontal functional disconnectivity and aggression in schizophrenia. Schizophr Bull (2009) 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
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
A prognostic gene expression signature in infratentorial ependymoma. Acta Neuropathol (2012) 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
Central nervous system and limb anomalies in case reports of first-trimester statin exposure. N Engl J Med (2004) 1.39
Final height and body mass index among adult survivors of childhood brain cancer: childhood cancer survivor study. J Clin Endocrinol Metab (2003) 1.39
Phase I trial of MK-0752 in children with refractory CNS malignancies: a pediatric brain tumor consortium study. J Clin Oncol (2011) 1.39
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A (2010) 1.36
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet (2002) 1.36
Phase I trial of single-dose temozolomide and continuous administration of o6-benzylguanine in children with brain tumors: a pediatric brain tumor consortium report. Clin Cancer Res (2007) 1.34
Genomic analysis of diffuse pediatric low-grade gliomas identifies recurrent oncogenic truncating rearrangements in the transcription factor MYBL1. Proc Natl Acad Sci U S A (2013) 1.33
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
The decision to continue: the experiences and needs of parents who receive a prenatal diagnosis of holoprosencephaly. Am J Med Genet (2002) 1.28
Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis. Neuro Oncol (2012) 1.27
Region-specific radiotherapy and neuropsychological outcomes in adult survivors of childhood CNS malignancies. Neuro Oncol (2010) 1.27
Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors. Am J Hum Genet (2011) 1.25
Phase I trial of pirfenidone in children with neurofibromatosis 1 and plexiform neurofibromas. Pediatr Neurol (2007) 1.25
Advances in the diagnosis, molecular genetics, and treatment of pediatric embryonal CNS tumors. Oncologist (2003) 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
Late-occurring neurologic sequelae in adult survivors of childhood acute lymphoblastic leukemia: a report from the Childhood Cancer Survivor Study. J Clin Oncol (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
Succinic semialdehyde dehydrogenase deficiency in children and adults. Ann Neurol (2003) 1.22
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly. Mol Genet Metab (2009) 1.21
Phase I study of vismodegib in children with recurrent or refractory medulloblastoma: a pediatric brain tumor consortium study. Clin Cancer Res (2013) 1.20
Mutations in the human SIX3 gene in holoprosencephaly are loss of function. Hum Mol Genet (2008) 1.19
Lovastatin as treatment for neurocognitive deficits in neurofibromatosis type 1: phase I study. Pediatr Neurol (2011) 1.18
Outcome of children with metastatic medulloblastoma treated with carboplatin during craniospinal radiotherapy: a Children's Oncology Group Phase I/II study. J Clin Oncol (2012) 1.17
Latent class subtyping of attention-deficit/hyperactivity disorder and comorbid conditions. J Am Acad Child Adolesc Psychiatry (2008) 1.17
Current treatment of medulloblastoma: recent advances and future challenges. Semin Oncol (2004) 1.16
Comparative multidimensional molecular analyses of pediatric diffuse intrinsic pontine glioma reveals distinct molecular subtypes. Acta Neuropathol (2013) 1.15
Children's Oncology Group's 2013 blueprint for research: central nervous system tumors. Pediatr Blood Cancer (2012) 1.14
The cerebellar mutism syndrome and its relation to cerebellar cognitive function and the cerebellar cognitive affective disorder. Dev Disabil Res Rev (2008) 1.13
Central nervous system meningiomas in the first two decades of life: a clinicopathological analysis of 87 patients. J Neurosurg (2005) 1.12
Medulloblastoma Down Under 2013: a report from the third annual meeting of the International Medulloblastoma Working Group. Acta Neuropathol (2013) 1.12
Attention-deficit/hyperactivity disorder and comorbid disruptive behavior disorders: evidence of pleiotropy and new susceptibility loci. Biol Psychiatry (2006) 1.12
Gender as a disease modifier in neurofibromatosis type 1 optic pathway glioma. Ann Neurol (2014) 1.12
Biological background of pediatric medulloblastoma and ependymoma: a review from a translational research perspective. Neuro Oncol (2008) 1.12
Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies. Am J Med Genet C Semin Med Genet (2011) 1.10
Phase I trial of lapatinib in children with refractory CNS malignancies: a Pediatric Brain Tumor Consortium study. J Clin Oncol (2010) 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 phase I and biology study of gefitinib and radiation in children with newly diagnosed brain stem gliomas or supratentorial malignant gliomas. Eur J Cancer (2010) 1.09
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. Hum Genet (2002) 1.09
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A (2007) 1.07
Ganglion cell layer-inner plexiform layer thickness and vision loss in young children with optic pathway gliomas. Invest Ophthalmol Vis Sci (2014) 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
Phase II trial of tipifarnib and radiation in children with newly diagnosed diffuse intrinsic pontine gliomas. Neuro Oncol (2011) 1.05
Fetal alcohol spectrum disorders. Am Fam Physician (2005) 1.04
Cortical signatures of dyslexia and remediation: an intrinsic functional connectivity approach. PLoS One (2013) 1.04