Published in Nat Genet on August 22, 2004
Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet (2008) 12.18
Ciliopathies. N Engl J Med (2011) 6.28
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Retinitis pigmentosa. Orphanet J Rare Dis (2006) 3.31
Joubert Syndrome and related disorders. Orphanet J Rare Dis (2010) 3.10
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet (2004) 2.76
Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol (2008) 2.66
A developmental and genetic classification for midbrain-hindbrain malformations. Brain (2009) 2.47
Subcellular spatial regulation of canonical Wnt signalling at the primary cilium. Nat Cell Biol (2011) 2.40
Ancient and recent positive selection transformed opioid cis-regulation in humans. PLoS Biol (2005) 2.37
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet (2010) 1.89
Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy. Nat Med (2009) 1.86
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. Nat Med (2011) 1.84
Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol (2013) 1.83
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet (2009) 1.83
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet (2010) 1.76
Targeting primitive chronic myeloid leukemia cells by effective inhibition of a new AHI-1-BCR-ABL-JAK2 complex. J Natl Cancer Inst (2013) 1.75
Genetic advances in autism: heterogeneity and convergence on shared pathways. Curr Opin Genet Dev (2009) 1.71
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum Genet (2013) 1.69
Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet (2009) 1.66
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. J Med Genet (2005) 1.65
Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans. J Cell Biol (2010) 1.60
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J Med Genet (2005) 1.58
Adaptive evolution of genes underlying schizophrenia. Proc Biol Sci (2007) 1.58
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. J Med Genet (2007) 1.56
Cerebellar development and disease. Curr Opin Neurobiol (2008) 1.53
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet (2009) 1.50
Human genetic disorders of axon guidance. Cold Spring Harb Perspect Biol (2010) 1.49
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat (2009) 1.48
Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol (2009) 1.48
Functional modules, mutational load and human genetic disease. Trends Genet (2010) 1.45
Assembling a primary cilium. Curr Opin Cell Biol (2013) 1.45
The ciliopathies: a transitional model into systems biology of human genetic disease. Curr Opin Genet Dev (2012) 1.44
The ciliary transition zone: from morphology and molecules to medicine. Trends Cell Biol (2012) 1.43
A natural history of the human mind: tracing evolutionary changes in brain and cognition. J Anat (2008) 1.35
Genetic causes of microcephaly and lessons for neuronal development. Wiley Interdiscip Rev Dev Biol (2012) 1.34
Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis (2006) 1.34
Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking. Hum Mol Genet (2009) 1.33
Nephronophthisis. Pediatr Nephrol (2010) 1.28
Nephronophthisis. Eur J Hum Genet (2008) 1.27
Semaphorin-6A controls guidance of corticospinal tract axons at multiple choice points. Neural Dev (2008) 1.24
Genetic basis of human brain evolution. Trends Neurosci (2008) 1.22
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatr Nephrol (2005) 1.22
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. Kidney Int (2011) 1.21
Trafficking in and to the primary cilium. Cilia (2012) 1.20
Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice. J Clin Invest (2008) 1.19
Disease gene characterization through large-scale co-expression analysis. PLoS One (2009) 1.15
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet (2015) 1.14
Association of common variants in the Joubert syndrome gene (AHI1) with autism. Hum Mol Genet (2008) 1.12
Genetics of the polymicrogyria syndromes. J Med Genet (2005) 1.10
A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia. Hum Mol Genet (2010) 1.08
Diffusion tensor imaging and fiber tractography in brain malformations. Pediatr Radiol (2013) 1.07
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. Hum Mol Genet (2015) 1.06
Congenital hypoplasia of the cerebellum: developmental causes and behavioral consequences. Front Neuroanat (2013) 1.02
Human disorders of axon guidance. Curr Opin Neurobiol (2012) 1.01
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet (2014) 0.99
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. Neurogenetics (2010) 0.99
Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1. J Neurosci (2010) 0.99
The role of primary cilia in the development and disease of the retina. Organogenesis (2013) 0.98
A review of the evidence for the canonical Wnt pathway in autism spectrum disorders. Mol Autism (2012) 0.97
Mutation of POC1B in a severe syndromic retinal ciliopathy. Hum Mutat (2014) 0.97
Renal cystic diseases: diverse phenotypes converge on the cilium/centrosome complex. Pediatr Nephrol (2006) 0.97
Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies. J Comp Neurol (2008) 0.96
Analysis of the brain-stem white-matter tracts with diffusion tensor imaging. Neuroradiology (2005) 0.95
Neuronal Abelson helper integration site-1 (Ahi1) deficiency in mice alters TrkB signaling with a depressive phenotype. Proc Natl Acad Sci U S A (2010) 0.92
Detecting natural selection by empirical comparison to random regions of the genome. Hum Mol Genet (2009) 0.92
Developmental basis of the rostro-caudal organization of the brainstem respiratory rhythm generator. Philos Trans R Soc Lond B Biol Sci (2009) 0.91
Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. Hum Genet (2008) 0.90
Genetic changes shaping the human brain. Dev Cell (2015) 0.89
Joubert syndrome: Clinical and radiological characteristics of nine patients. Ann Indian Acad Neurol (2013) 0.89
Eye movement abnormalities in Joubert syndrome. Invest Ophthalmol Vis Sci (2009) 0.89
An overview of the patient with ataxia. J Neurol (2005) 0.88
Huntingtin-associated protein-1 deficiency in orexin-producing neurons impairs neuronal process extension and leads to abnormal behavior in mice. J Biol Chem (2010) 0.88
Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss. EMBO J (2016) 0.88
Reelin demarcates a subset of pre-Bötzinger complex neurons in adult rat. J Comp Neurol (2012) 0.86
The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. J Biol Chem (2013) 0.85
Impact of the AHI1 gene on the vulnerability to schizophrenia: a case-control association study. PLoS One (2010) 0.85
Neural mechanisms underlying stress resilience in Ahi1 knockout mice: relevance to neuropsychiatric disorders. Mol Psychiatry (2013) 0.85
Novel approaches to studying the genetic basis of cerebellar development. Cerebellum (2010) 0.84
Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development. Cell Mol Life Sci (2011) 0.84
Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome. PLoS One (2012) 0.83
Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers. Am J Med Genet A (2011) 0.83
Cilia in cell signaling and human disorders. Protein Cell (2010) 0.83
Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel. PLoS One (2014) 0.83
Loss of Ahi1 affects early development by impairing BM88/Cend1-mediated neuronal differentiation. J Neurosci (2013) 0.82
Functional Interactions between BM88/Cend1, Ran-binding protein M and Dyrk1B kinase affect cyclin D1 levels and cell cycle progression/exit in mouse neuroblastoma cells. PLoS One (2013) 0.82
Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks. BMC Genomics (2014) 0.82
AHI-1: a novel signaling protein and potential therapeutic target in human leukemia and brain disorders. Oncotarget (2011) 0.82
Huntingtin-associated protein 1 regulates postnatal neurogenesis and neurotrophin receptor sorting. J Clin Invest (2013) 0.81
Diffusion tensor imaging of midline posterior fossa malformations. Pediatr Radiol (2006) 0.81
Cellular and axonal diversity in molecular layer heterotopia of the rat cerebellar vermis. Biomed Res Int (2013) 0.80
Hypothalamic Ahi1 mediates feeding behavior through interaction with 5-HT2C receptor. J Biol Chem (2011) 0.79
Loss of Ahi1 impairs neurotransmitter release and causes depressive behaviors in mice. PLoS One (2014) 0.79
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. Am J Hum Genet (2015) 0.79
Evolutionary genomics of human intellectual disability. Evol Appl (2009) 0.78
Mutation spectrum of Joubert syndrome and related disorders among Arabs. Hum Genome Var (2014) 0.77
The characterization of Abelson helper integration site-1 in skeletal muscle and its links to the metabolic syndrome. Metabolism (2009) 0.77
Joubert syndrome with variable features: presentation of two cases. Iran J Child Neurol (2013) 0.77
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet (2007) 19.08
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Regulation of cerebral cortical size by control of cell cycle exit in neural precursors. Science (2002) 7.92
Identifying autism loci and genes by tracing recent shared ancestry. Science (2008) 7.72
Mapping human genetic diversity in Asia. Science (2009) 7.40
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet (2005) 5.48
Synaptic, transcriptional and chromatin genes disrupted in autism. Nature (2014) 5.30
Directed migration of neural stem cells to sites of CNS injury by the stromal cell-derived factor 1alpha/CXC chemokine receptor 4 pathway. Proc Natl Acad Sci U S A (2004) 4.70
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet (2008) 4.68
ASPM is a major determinant of cerebral cortical size. Nat Genet (2002) 4.57
G protein-coupled receptor-dependent development of human frontal cortex. Science (2004) 4.42
Exome sequencing and the genetic basis of complex traits. Nat Genet (2012) 4.11
The many faces of filamin: a versatile molecular scaffold for cell motility and signalling. Nat Cell Biol (2004) 3.97
Mitotic spindle regulation by Nde1 controls cerebral cortical size. Neuron (2004) 3.90
Expression of Cux-1 and Cux-2 in the subventricular zone and upper layers II-IV of the cerebral cortex. J Comp Neurol (2004) 3.20
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain. Cell (2012) 3.13
Somatic mutations in cerebral cortical malformations. N Engl J Med (2014) 3.13
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain. J Comp Neurol (2003) 3.01
Clinical genetic testing for patients with autism spectrum disorders. Pediatrics (2010) 2.87
Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron (2012) 2.84
Significant linkage to compulsive hoarding on chromosome 14 in families with obsessive-compulsive disorder: results from the OCD Collaborative Genetics Study. Am J Psychiatry (2007) 2.84
The cerebrospinal fluid provides a proliferative niche for neural progenitor cells. Neuron (2011) 2.83
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet (2010) 2.74
Using whole-exome sequencing to identify inherited causes of autism. Neuron (2013) 2.74
Somatic mutation, genomic variation, and neurological disease. Science (2013) 2.72
Willingness to participate in clinical treatment research among older African Americans and Whites. Gerontologist (2003) 2.69
Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism (2012) 2.67
Early asymmetry of gene transcription in embryonic human left and right cerebral cortex. Science (2005) 2.56
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet (2010) 2.44
Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. Nat Genet (2006) 2.39
Molecular approaches to brain asymmetry and handedness. Nat Rev Neurosci (2006) 2.32
The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate. Nat Genet (2004) 2.32
Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors. Development (2010) 2.31
Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis. Proc Natl Acad Sci U S A (2006) 2.28
SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol (2013) 2.28
The genetic basis of a craniofacial disease provides insight into COPII coat assembly. Dev Cell (2007) 2.26
Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowth. Neuron (2006) 2.24
The DCX-domain tandems of doublecortin and doublecortin-like kinase. Nat Struct Biol (2003) 2.22
The exon junction complex component Magoh controls brain size by regulating neural stem cell division. Nat Neurosci (2010) 2.13
A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. J Med Genet (2013) 2.12
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet (2010) 2.12
Genome-wide scan for familial nasopharyngeal carcinoma reveals evidence of linkage to chromosome 4. Nat Genet (2002) 2.00
A comparative proteomic analysis of human and rat embryonic cerebrospinal fluid. J Proteome Res (2007) 2.00
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat Genet (2003) 1.96
Molecular insights into human brain evolution. Nature (2005) 1.94
Doublecortin is required in mice for lamination of the hippocampus but not the neocortex. J Neurosci (2002) 1.94
GPR56 regulates pial basement membrane integrity and cortical lamination. J Neurosci (2008) 1.93
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Am J Hum Genet (2011) 1.92
Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet (2003) 1.89
The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. Hum Mol Genet (2005) 1.88
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS Genet (2012) 1.86
Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. Science (2014) 1.85
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet (2007) 1.85
Familial risk and clustering of nasopharyngeal carcinoma in Guangdong, China. Cancer (2004) 1.77
Increased neuronal production, enlarged forebrains and cytoarchitectural distortions in beta-catenin overexpressing transgenic mice. Cereb Cortex (2003) 1.72
Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. PLoS Genet (2013) 1.68
Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma. Nat Genet (2012) 1.64
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. Hum Mol Genet (2008) 1.62
The Tre2 (USP6) oncogene is a hominoid-specific gene. Proc Natl Acad Sci U S A (2003) 1.62
Both doublecortin and doublecortin-like kinase play a role in cortical interneuron migration. J Neurosci (2007) 1.61
Identification of neural outgrowth genes using genome-wide RNAi. PLoS Genet (2008) 1.60
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet (2012) 1.60
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. Am J Hum Genet (2009) 1.55
Cux1 and Cux2 regulate dendritic branching, spine morphology, and synapses of the upper layer neurons of the cortex. Neuron (2010) 1.55
Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. PLoS Biol (2004) 1.54
Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3. Am J Hum Genet (2009) 1.53
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males. Epilepsia (2006) 1.47
Smooth, rough and upside-down neocortical development. Curr Opin Genet Dev (2002) 1.47
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. Am J Hum Genet (2013) 1.47
Association of IL10 and other immune response- and obesity-related genes with prostate cancer in CLUE II. Prostate (2009) 1.45
What disorders of cortical development tell us about the cortex: one plus one does not always make two. Curr Opin Genet Dev (2011) 1.45
Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination. Hum Mol Genet (2008) 1.45
Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact. Hum Mol Genet (2002) 1.45
Cux-2 controls the proliferation of neuronal intermediate precursors of the cortical subventricular zone. Cereb Cortex (2007) 1.43