Diagnostic exome sequencing in persons with severe intellectual disability.

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A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet (2014) 14.56

De novo mutations in epileptic encephalopathies. Nature (2013) 7.42

Guidelines for investigating causality of sequence variants in human disease. Nature (2014) 7.30

De novo mutations in schizophrenia implicate synaptic networks. Nature (2014) 6.59

Molecular findings among patients referred for clinical whole-exome sequencing. JAMA (2014) 6.46

A polygenic burden of rare disruptive mutations in schizophrenia. Nature (2014) 5.99

The contribution of de novo coding mutations to autism spectrum disorder. Nature (2014) 5.94

Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet (2013) 5.58

A framework for the interpretation of de novo mutation in human disease. Nat Genet (2014) 4.00

Genome sequencing identifies major causes of severe intellectual disability. Nature (2014) 3.68

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet (2013) 3.64

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet (2014) 3.39

Large-scale discovery of novel genetic causes of developmental disorders. Nature (2014) 3.33

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med (2014) 3.28

Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet (2014) 3.21

Somatic mutations in cerebral cortical malformations. N Engl J Med (2014) 3.13

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet (2014) 2.84

Individualized medicine from prewomb to tomb. Cell (2014) 2.76

Evolutionary pathway to increased virulence and epidemic group A Streptococcus disease derived from 3,615 genome sequences. Proc Natl Acad Sci U S A (2014) 2.63

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am J Hum Genet (2013) 2.47

Sequence kernel association tests for the combined effect of rare and common variants. Am J Hum Genet (2013) 2.41

Sequencing studies in human genetics: design and interpretation. Nat Rev Genet (2013) 2.27

Improved exome prioritization of disease genes through cross-species phenotype comparison. Genome Res (2013) 2.24

A de novo convergence of autism genetics and molecular neuroscience. Trends Neurosci (2013) 2.24

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet (2013) 2.10

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet (2013) 2.06

Molecular genetic testing and the future of clinical genomics. Nat Rev Genet (2013) 2.03

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet (2013) 1.91

GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet (2013) 1.85

γCaMKII shuttles Ca²⁺/CaM to the nucleus to trigger CREB phosphorylation and gene expression. Cell (2014) 1.84

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. Genet Med (2015) 1.84

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nat Neurosci (2016) 1.78

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia (2013) 1.78

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nat Genet (2015) 1.76

A roadmap for precision medicine in the epilepsies. Lancet Neurol (2015) 1.75

A spectral approach integrating functional genomic annotations for coding and noncoding variants. Nat Genet (2016) 1.75

Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet (2014) 1.73

Understanding human glycosylation disorders: biochemistry leads the charge. J Biol Chem (2013) 1.72

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. Am J Hum Genet (2014) 1.66

Large-scale genomics unveils the genetic architecture of psychiatric disorders. Nat Neurosci (2014) 1.64

De novo mutations in moderate or severe intellectual disability. PLoS Genet (2014) 1.64

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability. Mol Psychiatry (2014) 1.62

Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nat Commun (2014) 1.59

Karyotype versus microarray testing for genetic abnormalities after stillbirth. N Engl J Med (2012) 1.56

Axonal transport: cargo-specific mechanisms of motility and regulation. Neuron (2014) 1.55

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet (2014) 1.55

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Sci Transl Med (2014) 1.55

Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. Am J Hum Genet (2016) 1.54

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. Am J Hum Genet (2016) 1.52

Adenomatous polyposis coli protein deletion leads to cognitive and autism-like disabilities. Mol Psychiatry (2014) 1.52

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. J Med Genet (2014) 1.48

Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery. Genome Biol (2016) 1.43

Genetic studies in intellectual disability and related disorders. Nat Rev Genet (2015) 1.40

Next generation sequencing and the future of genetic diagnosis. Neurotherapeutics (2014) 1.38

Genetics of the epilepsies: where are we and where are we going? Curr Opin Neurol (2013) 1.38

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science (2015) 1.36

The discovery of integrated gene networks for autism and related disorders. Genome Res (2014) 1.35

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. Ann Neurol (2014) 1.34

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clin Genet (2015) 1.32

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. Neurogenetics (2013) 1.32

Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders. EMBO J (2014) 1.31

Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. Nat Commun (2014) 1.29

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. Ann Clin Transl Neurol (2014) 1.29

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound. Hum Mol Genet (2014) 1.28

Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat (2014) 1.25

Prioritization of neurodevelopmental disease genes by discovery of new mutations. Nat Neurosci (2014) 1.21

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity. Genet Med (2014) 1.19

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. Am J Hum Genet (2013) 1.17

Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice. Genome Med (2014) 1.17

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. J Med Genet (2015) 1.17

Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases. Mol Pharmacol (2015) 1.16

Autism spectrum disorder severity reflects the average contribution of de novo and familial influences. Proc Natl Acad Sci U S A (2014) 1.16

Diagnostically relevant facial gestalt information from ordinary photos. Elife (2014) 1.15

Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders. Nat Rev Genet (2015) 1.14

Navigating the rapids: the development of regulated next-generation sequencing-based clinical trial assays and companion diagnostics. Front Oncol (2014) 1.12

Ethical, legal, and social implications of incorporating genomic information into electronic health records. Genet Med (2013) 1.11

Genetics and genomic medicine in Saudi Arabia. Mol Genet Genomic Med (2014) 1.10

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. Eur J Hum Genet (2013) 1.09

Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. Gene (2013) 1.09

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists. J Med Genet (2015) 1.08

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. Neurology (2015) 1.07

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Nat Neurosci (2016) 1.07

Next-generation diagnostics and disease-gene discovery with the Exomiser. Nat Protoc (2015) 1.07

Next-generation sequencing: does the next generation still have a right to an open future? Nat Rev Genet (2013) 1.06

Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing. Genome Res (2015) 1.06

Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med (2015) 1.06

A genome sequencing program for novel undiagnosed diseases. Genet Med (2015) 1.05

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. J Clin Invest (2014) 1.04

Genetic basis and detection of unintended effects in genetically modified crop plants. Transgenic Res (2015) 1.04

Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics. Hum Mutat (2013) 1.04

Whole exome sequencing of suspected mitochondrial patients in clinical practice. J Inherit Metab Dis (2015) 1.04

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. Am J Hum Genet (2015) 1.03

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron (2015) 1.03

Digenic inheritance and Mendelian disease. Nat Genet (2012) 1.02

Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies. PLoS Genet (2014) 1.02

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology (2016) 1.02

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. Brain (2015) 1.02

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. Am J Hum Genet (2015) 1.01

Clinical applications of next generation sequencing in cancer: from panels, to exomes, to genomes. Front Genet (2015) 1.01

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88

Diagnostic genome profiling in mental retardation. Am J Hum Genet (2005) 8.60

A de novo paradigm for mental retardation. Nat Genet (2010) 8.57

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet (2004) 6.90

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet (2006) 6.15

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2013) 5.66

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet (2003) 5.43

A text-mining analysis of the human phenome. Eur J Hum Genet (2006) 4.98

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet (2006) 4.77

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nat Genet (2008) 4.44

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04

De novo mutations in human genetic disease. Nat Rev Genet (2012) 3.81

Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet (2012) 3.73

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60

Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47

CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med (2011) 3.11

High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Am J Hum Genet (2002) 3.10

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

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02

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

Disease gene identification strategies for exome sequencing. Eur J Hum Genet (2012) 2.89

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

Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet (2002) 2.81

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2011) 2.69

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet (2012) 2.63

Unlocking Mendelian disease using exome sequencing. Genome Biol (2011) 2.62

Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet (2008) 2.61

Massively parallel sequencing of ataxia genes after array-based enrichment. Hum Mutat (2010) 2.60

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59

Angiocentric glioma: report of clinico-pathologic and genetic findings in 8 cases. Am J Surg Pathol (2007) 2.48

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet (2012) 2.44

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet (2005) 2.38

A new web-based data mining tool for the identification of candidate genes for human genetic disorders. Eur J Hum Genet (2003) 2.32

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet (2006) 2.31

Next-generation genetic testing for retinitis pigmentosa. Hum Mutat (2012) 2.30

TLR4 polymorphisms, infectious diseases, and evolutionary pressure during migration of modern humans. Proc Natl Acad Sci U S A (2007) 2.28

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet (2010) 2.26

Improved exome prioritization of disease genes through cross-species phenotype comparison. Genome Res (2013) 2.24

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain (2010) 2.21

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet (2007) 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