Published in Nat Neurosci on May 27, 2014
Large-scale genomics unveils the genetic architecture of psychiatric disorders. Nat Neurosci (2014) 1.64
Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes. Proc Natl Acad Sci U S A (2016) 1.44
Genetic studies in intellectual disability and related disorders. Nat Rev Genet (2015) 1.40
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. PLoS Genet (2015) 1.20
Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders. Nat Rev Genet (2015) 1.14
Pathway-driven discovery of epilepsy genes. Nat Neurosci (2015) 1.00
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Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development. Prog Neurobiol (2015) 0.85
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Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations. Mol Psychiatry (2016) 0.82
An Incomplete Understanding of Human Genetic Variation. Genetics (2016) 0.81
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Pathway Network Analyses for Autism Reveal Multisystem Involvement, Major Overlaps with Other Diseases and Convergence upon MAPK and Calcium Signaling. PLoS One (2016) 0.79
The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation Medicine. Front Cell Neurosci (2016) 0.78
Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assembly. Biol Psychiatry (2014) 0.77
Investigation of Rare Single-Nucleotide PCDH15 Variants in Schizophrenia and Autism Spectrum Disorders. PLoS One (2016) 0.77
The transcription factor NeuroD2 coordinates synaptic innervation and cell intrinsic properties to control excitability of cortical pyramidal neurons. J Physiol (2016) 0.77
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genet (2017) 0.77
The genetics and neurobiology of ESSENCE: The third Birgit Olsson lecture. Nord J Psychiatry (2015) 0.76
Prioritizing the development of mouse models for childhood brain disorders. Neuropharmacology (2015) 0.76
Gene Prioritization by Integrated Analysis of Protein Structural and Network Topological Properties for the Protein-Protein Interaction Network of Neurological Disorders. Scientifica (Cairo) (2016) 0.75
Neurogenetic analysis of childhood disintegrative disorder. Mol Autism (2017) 0.75
GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability. Mol Psychiatry (2015) 0.75
A Common Polymorphism in SCN2A Predicts General Cognitive Ability through Effects on PFC Physiology. J Cogn Neurosci (2015) 0.75
CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens. Sci Rep (2016) 0.75
MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy. Eur J Pediatr (2014) 0.75
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Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life. Am J Hum Genet (2017) 0.75
Rare genetic variants in CX3CR1 and their contribution to the increased risk of schizophrenia and autism spectrum disorders. Transl Psychiatry (2017) 0.75
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders. Mol Psychiatry (2017) 0.75
Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism. Mol Psychiatry (2016) 0.75
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability. Genome Med (2017) 0.75
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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet (2014) 14.56
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature (2012) 13.61
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Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Identifying autism loci and genes by tracing recent shared ancestry. Science (2008) 7.72
De novo mutations in epileptic encephalopathies. Nature (2013) 7.42
De novo mutations in schizophrenia implicate synaptic networks. Nature (2014) 6.59
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21
A polygenic burden of rare disruptive mutations in schizophrenia. Nature (2014) 5.99
Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron (2011) 5.78
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72
De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature (2011) 4.85
Characterising and predicting haploinsufficiency in the human genome. PLoS Genet (2010) 4.85
Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron (2011) 4.66
Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med (2012) 4.36
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet (2011) 3.97
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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet (2013) 3.64
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An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med (2011) 3.51
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De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia. Nat Genet (2012) 3.49
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Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. Nat Genet (2012) 3.43
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Integrative annotation of variants from 1092 humans: application to cancer genomics. Science (2013) 2.98
CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature (2013) 2.96
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. Cell (2013) 2.94
Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism. Cell (2013) 2.87
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet (2011) 2.85
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Using whole-exome sequencing to identify inherited causes of autism. Neuron (2013) 2.74
Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism (2012) 2.67
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet (2012) 2.63
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61
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Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice. Mol Cell Biol (2002) 2.51
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am J Hum Genet (2013) 2.47
From neural development to cognition: unexpected roles for chromatin. Nat Rev Genet (2013) 2.42
Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies. Mol Psychiatry (2010) 2.36
Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation. Genome Res (2013) 2.29
Detection of structural variants and indels within exome data. Nat Methods (2011) 2.27
A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. Am J Hum Genet (2014) 2.18
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Am J Hum Genet (2013) 2.15
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet (2012) 2.12
Somatic SETBP1 mutations in myeloid malignancies. Nat Genet (2013) 2.12
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09
Clinical significance of de novo and inherited copy-number variation. Hum Mutat (2013) 2.08
Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome. Am J Hum Genet (2010) 1.97
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A comprehensive assessment of parental age and psychiatric disorders. JAMA Psychiatry (2014) 1.79
Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease. Am J Hum Genet (2012) 1.78
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. Am J Hum Genet (2008) 1.70
Identifying Mendelian disease genes with the variant effect scoring tool. BMC Genomics (2013) 1.64
Splitting p63. Am J Hum Genet (2002) 1.62
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet (2014) 1.55
Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. PLoS Genet (2013) 1.48
Mutations in EZH2 cause Weaver syndrome. Am J Hum Genet (2011) 1.46
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. Clin Genet (2011) 1.46
NOTCH2 mutations in Alagille syndrome. J Med Genet (2011) 1.40
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet (2009) 1.39
Using population admixture to help complete maps of the human genome. Nat Genet (2013) 1.35
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet (2011) 1.34
Activity-dependent neuroprotective protein snippet NAP reduces tau hyperphosphorylation and enhances learning in a novel transgenic mouse model. J Pharmacol Exp Ther (2007) 1.30
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat (2013) 1.27
Transmission disequilibrium of small CNVs in simplex autism. Am J Hum Genet (2013) 1.26
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. Am J Hum Genet (2012) 1.22
High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet (2013) 1.21
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. J Med Genet (2010) 0.97
Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis. Hum Genet (2013) 0.94
MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome. Clin Genet (2012) 0.87
New brain-specific beta-synuclein isoforms show expression ratio changes in Lewy body diseases. Neurogenetics (2011) 0.84
372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment. Eur J Med Genet (2012) 0.83