Published in Eur J Hum Genet on February 22, 2012
Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites. Nature (2013) 2.07
The promise of whole-exome sequencing in medical genetics. J Hum Genet (2013) 1.95
Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol (2013) 1.83
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). Hum Mol Genet (2012) 1.38
Primary cilia in neurodevelopmental disorders. Nat Rev Neurol (2013) 1.14
RTTN mutations link primary cilia function to organization of the human cerebral cortex. Am J Hum Genet (2012) 1.01
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. Genome Biol (2015) 0.89
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. Orphanet J Rare Dis (2014) 0.84
Update on oral-facial-digital syndromes (OFDS). Cilia (2016) 0.79
An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy. Case Rep Nephrol (2016) 0.75
A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report. Iran J Public Health (2016) 0.75
Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum. Am J Med Genet A (2017) 0.75
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. J Med Genet (2017) 0.75
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. Am J Hum Genet (2017) 0.75
Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A (2004) 3.75
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nat Genet (2005) 2.24
Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet (2001) 2.07
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet (2009) 1.83
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet (2006) 1.51
Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene. Hum Mol Genet (2008) 1.46
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet (2006) 1.42
Joubert syndrome: long-term follow-up. Dev Med Child Neurol (2004) 1.22
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. Hum Mutat (2008) 1.13
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. Clin Genet (2009) 0.93
Cerebral dysgenesis does not exclude OFD I syndrome. Am J Med Genet A (2011) 0.82
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia (2010) 18.28
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
De novo mutations in epileptic encephalopathies. Nature (2013) 7.42
ILAE official report: a practical clinical definition of epilepsy. Epilepsia (2014) 7.12
Factors influencing clinical features of absence seizures. Epilepsia (2008) 4.32
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet (2007) 4.20
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol (2012) 4.12
New concepts in classification of the epilepsies: entering the 21st century. Epilepsia (2011) 3.99
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet (2005) 3.87
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet (2013) 3.64
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat (2007) 3.52
The American Board of Allergy and Immunology maintenance of certification program: "to do or not to do? That is the question.". Ann Allergy Asthma Immunol (2010) 3.15
Somatic mutations in cerebral cortical malformations. N Engl J Med (2014) 3.13
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet (2004) 2.99
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet (2012) 2.98
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet Neurol (2006) 2.93
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. Lancet Neurol (2007) 2.88
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet (2002) 2.86
Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay. Mol Cell (2011) 2.73
PHF6 mutations in T-cell acute lymphoblastic leukemia. Nat Genet (2010) 2.66
Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet (2002) 2.43
Navigating the channels and beyond: unravelling the genetics of the epilepsies. Lancet Neurol (2008) 2.39
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet (2007) 2.35
SCN1A mutations and epilepsy. Hum Mutat (2005) 2.34
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet (2012) 2.34
SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet (2006) 2.34
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet (2001) 2.32
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology (2014) 2.30
The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain (2007) 2.30
SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol (2013) 2.28
Ectopic posterior pituitary lobe and periventricular heterotopia: cerebral malformations with the same underlying mechanism? AJNR Am J Neuroradiol (2002) 2.26
Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. Lancet Neurol (2010) 2.23
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet (2008) 2.16
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. PLoS Genet (2010) 2.14
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet (2009) 2.12
The phenotypic spectrum of SCN8A encephalopathy. Neurology (2015) 2.12
Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet (2013) 2.10
XLMR genes: update 2007. Eur J Hum Genet (2008) 2.07
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. Am J Hum Genet (2007) 2.07
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. Am J Hum Genet (2004) 2.04
The genetic landscape of intellectual disability arising from chromosome X. Trends Genet (2009) 2.03
N-methyl-D-aspartate receptor antibodies in pediatric dyskinetic encephalitis lethargica. Ann Neurol (2009) 2.03
Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. Ann Neurol (2007) 2.00
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain (2013) 1.95
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet (2008) 1.95
Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain (2008) 1.94
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol (2009) 1.94
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet (2012) 1.91
Cortical hypometabolism demonstrated by PET in relapsing NMDA receptor encephalitis. Pediatr Neurol (2010) 1.89
Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol (2011) 1.88
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet (2010) 1.87
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. Am J Hum Genet (2006) 1.85
GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet (2013) 1.85
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet (2008) 1.82
The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy. Dev Med Child Neurol (2012) 1.80
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet (2008) 1.80
The genetics of Dravet syndrome. Epilepsia (2011) 1.77
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Sci Transl Med (2010) 1.75
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. Am J Hum Genet (2007) 1.73
Distinguishing sleep disorders from seizures: diagnosing bumps in the night. Arch Neurol (2006) 1.73
Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. Neurology (2013) 1.72
Prescription of anti-influenza drugs for healthy adults: a systematic review and meta-analysis. Lancet Infect Dis (2009) 1.69
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat (2007) 1.68
Is benign rolandic epilepsy genetically determined? Ann Neurol (2004) 1.68
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet (2004) 1.65
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol (2014) 1.62
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain (2010) 1.61
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. Am J Hum Genet (2010) 1.60
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Hum Genet (2004) 1.57
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX. Brain Dev (2002) 1.56
ZFHX1B mutations in patients with Mowat-Wilson syndrome. Hum Mutat (2007) 1.55
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nat Genet (2010) 1.52
Genetic testing in the epilepsies--report of the ILAE Genetics Commission. Epilepsia (2010) 1.51
Channelopathies in idiopathic epilepsy. Neurotherapeutics (2007) 1.49
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. Am J Hum Genet (2010) 1.48
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology (2012) 1.48
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum Mol Genet (2012) 1.48
Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline. Dev Med Child Neurol (2013) 1.44