Published in Am J Hum Genet on October 17, 2013
Whole exome sequencing to identify genetic causes of short stature. Horm Res Paediatr (2014) 1.51
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med (2017) 1.39
Genetic, environmental, and epigenetic factors involved in CAKUT. Nat Rev Nephrol (2015) 1.00
A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans. Genetics (2014) 0.96
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. Genome Res (2015) 0.94
Interpreting human genetic variation with in vivo zebrafish assays. Biochim Biophys Acta (2014) 0.92
Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am J Hum Genet (2014) 0.90
Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease. Mol Cytogenet (2014) 0.87
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. Eur J Hum Genet (2016) 0.84
Haploinsufficiency of the c-myc transcriptional repressor FIR, as a dominant negative-alternative splicing model, promoted p53-dependent T-cell acute lymphoblastic leukemia progression by activating Notch1. Oncotarget (2015) 0.83
Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney. Kidney Int (2015) 0.82
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet (2017) 0.80
Development and dynamics of cell polarity at a glance. J Cell Sci (2017) 0.79
The effect of maternal diabetes on the Wnt-PCP pathway during embryogenesis as reflected in the developing mouse eye. Dis Model Mech (2014) 0.75
RNA-binding proteins in eye development and disease: implication of conserved RNA granule components. Wiley Interdiscip Rev RNA (2016) 0.75
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. Eur J Hum Genet (2017) 0.75
A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay. Cold Spring Harb Mol Case Stud (2016) 0.75
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis. JCI Insight (2016) 0.75
Involvement of PUF60 in Transcriptional and Post-transcriptional Regulation of Hepatitis B Virus Pregenomic RNA Expression. Sci Rep (2017) 0.75
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs. Am J Hum Genet (2017) 0.75
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet (2017) 0.75
Detection of large-scale variation in the human genome. Nat Genet (2004) 49.18
Large-scale copy number polymorphism in the human genome. Science (2004) 34.64
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
Copy-number variation and association studies of human disease. Nat Genet (2007) 8.50
Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet (2007) 6.75
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet (2008) 6.26
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet (2005) 4.76
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet (2009) 3.86
De novo rates and selection of large copy number variation. Genome Res (2010) 3.08
Acute renal failure in zebrafish: a novel system to study a complex disease. Am J Physiol Renal Physiol (2004) 2.50
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature (2012) 2.47
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. Proc Natl Acad Sci U S A (2010) 2.45
LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell (1996) 2.44
The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier-Gorlin syndrome. Nature (2012) 2.07
Scrib controls Cdc42 localization and activity to promote cell polarization during astrocyte migration. Curr Biol (2006) 2.03
Zebrafish as a model to study cardiac development and human cardiac disease. Cardiovasc Res (2011) 2.03
Hooked! Modeling human disease in zebrafish. J Clin Invest (2012) 2.00
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum Mol Genet (2004) 1.95
Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism. Proc Natl Acad Sci U S A (2011) 1.82
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet (2011) 1.76
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet (2012) 1.75
Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder. J Pediatr (2012) 1.74
Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proc Natl Acad Sci U S A (2011) 1.71
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet (2012) 1.63
Rapid screening of glomerular slit diaphragm integrity in larval zebrafish. Am J Physiol Renal Physiol (2007) 1.63
Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet (2012) 1.63
The prespliceosome components SAP 49 and SAP 145 interact in a complex implicated in tethering U2 snRNP to the branch site. Genes Dev (1994) 1.57
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet (2012) 1.57
Scribble participates in Hippo signaling and is required for normal zebrafish pronephros development. Proc Natl Acad Sci U S A (2009) 1.57
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med (2013) 1.56
Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance. Mol Cell Biol (2003) 1.42
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation. J Med Genet (2007) 1.40
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. Dis Model Mech (2012) 1.39
Ndrg4 is required for normal myocyte proliferation during early cardiac development in zebrafish. Dev Biol (2008) 1.35
Half pint regulates alternative splice site selection in Drosophila. Dev Cell (2002) 1.29
Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65). PLoS One (2007) 1.28
A final word on the tricho-rhino-phalangeal syndromes. Clin Genet (1987) 1.25
Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia. Hum Mol Genet (2007) 1.24
The genetic variability and commonality of neurodevelopmental disease. Am J Med Genet C Semin Med Genet (2012) 1.23
Ciliary margin transdifferentiation from neural retina is controlled by canonical Wnt signaling. Dev Biol (2007) 1.22
Protein complexes that control renal epithelial polarity. Am J Physiol Renal Physiol (2011) 1.22
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Am J Hum Genet (2013) 1.22
Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. Hum Mol Genet (2004) 1.16
Regulation of synaptic plasticity and synaptic vesicle dynamics by the PDZ protein Scribble. J Neurosci (2002) 1.16
Investigation of Frizzled-5 during embryonic neural development in mouse. Dev Dyn (2008) 1.16
Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion. Am J Med Genet (2002) 1.14
Ocular coloboma and dorsoventral neuroretinal patterning defects in Lrp6 mutant eyes. Dev Dyn (2008) 1.05
Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1. Am J Hum Genet (1999) 1.05
The apical/basal-polarity determinant Scribble cooperates with the PCP core factor Stbm/Vang and functions as one of its effectors. Dev Biol (2009) 1.03
A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. PLoS Genet (2012) 1.03
"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype. Am J Med Genet A (2012) 1.02
Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13. Am J Med Genet (1989) 1.01
Scribble is required for normal epithelial cell-cell contacts and lumen morphogenesis in the mammalian lung. Dev Biol (2012) 1.01
An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. Eur J Med Genet (2009) 0.99
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. J Med Genet (2012) 0.96
Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma. Hum Mol Genet (2012) 0.93
The polarity protein Scrib is essential for directed endothelial cell migration. Circ Res (2013) 0.91
Wnt3a regulates the development of cardiac neural crest cells by modulating expression of cysteine-rich intestinal protein 2 in rhombomere 6. Circ Res (2008) 0.90
Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12. Pediatr Neurol (2012) 0.90
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis. Eur J Hum Genet (2009) 0.89
Genetic architecture of reciprocal CNVs. Curr Opin Genet Dev (2013) 0.88
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP. Epilepsy Res (2013) 0.86
Contribution of rare copy number variants to isolated human malformations. PLoS One (2012) 0.86
Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome. Am J Med Genet A (2013) 0.84
8q23-q24 duplication--further delineation of a rare chromosomal abnormality. Am J Med Genet A (2010) 0.84
8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome. Eur J Hum Genet (2011) 0.84
Effect of vascular cadherin knockdown on zebrafish vasculature during development. PLoS One (2010) 0.83
Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13). Am J Med Genet A (2008) 0.83
Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk. Clin Genet (1992) 0.81
Partial trisomy of distal 8q derived from mother with mosaic 8q23.3----24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I. Hum Genet (1989) 0.78
PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet (2003) 53.59
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (2007) 51.70
Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet (2008) 30.94
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Genome-wide association analysis identifies 20 loci that influence adult height. Nat Genet (2008) 16.92
Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet (2003) 16.51
Assessing the impact of population stratification on genetic association studies. Nat Genet (2004) 16.28
Identification of ten loci associated with height highlights new biological pathways in human growth. Nat Genet (2008) 16.25
Replicating genotype-phenotype associations. Nature (2007) 16.11
Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet (2008) 15.94
A common genetic variant is associated with adult and childhood obesity. Science (2006) 14.95
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet (2009) 12.44
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
Genetic signatures of strong recent positive selection at the lactase gene. Am J Hum Genet (2004) 11.90
Variants in MTNR1B influence fasting glucose levels. Nat Genet (2008) 10.85
Polymorphisms associated with cholesterol and risk of cardiovascular events. N Engl J Med (2008) 9.83
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet (2005) 9.62
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet (2006) 9.56
Demonstrating stratification in a European American population. Nat Genet (2005) 9.49
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94
Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: a genome-wide association study. Gastroenterology (2010) 7.86
Discerning the ancestry of European Americans in genetic association studies. PLoS Genet (2007) 7.81
Genome-wide association studies: potential next steps on a genetic journey. Hum Mol Genet (2008) 7.54
Common variants in the GDF5-UQCC region are associated with variation in human height. Nat Genet (2008) 7.31
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One (2008) 7.16
A common variant of HMGA2 is associated with adult and childhood height in the general population. Nat Genet (2007) 6.87
Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science (2008) 6.66
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat Genet (2006) 6.39
Ciliopathies. N Engl J Med (2011) 6.28
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet (2012) 6.15
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell (2004) 6.10
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature (2003) 5.96
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet (2009) 5.81
Choosing haplotype-tagging SNPS based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the Multiethnic Cohort Study. Hum Hered (2003) 5.78
Detection of regulatory variation in mouse genes. Nat Genet (2002) 5.76
Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat Genet (2012) 5.55
FoldIndex: a simple tool to predict whether a given protein sequence is intrinsically unfolded. Bioinformatics (2005) 5.44
The vertebrate primary cilium in development, homeostasis, and disease. Cell (2009) 5.29
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci U S A (2008) 5.27
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet (2004) 5.19
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet (2009) 4.97
Genomic inflation factors under polygenic inheritance. Eur J Hum Genet (2011) 4.89
Conserved noncoding sequences are selectively constrained and not mutation cold spots. Nat Genet (2005) 4.79
Transferability of tag SNPs in genetic association studies in multiple populations. Nat Genet (2006) 4.78
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet (2005) 4.76
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet (2012) 4.73
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet (2008) 4.68
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet (2007) 4.63
Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. N Engl J Med (2008) 4.46
DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci U S A (2008) 4.46
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet (2012) 4.37
Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med (2012) 4.36
Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals. Diabetes (2006) 4.36
Modeling and E-M estimation of haplotype-specific relative risks from genotype data for a case-control study of unrelated individuals. Hum Hered (2003) 4.34
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 4.30
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nat Genet (2007) 4.24
Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Diabetes (2008) 4.20
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits. PLoS Genet (2011) 3.92
The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia. Nat Genet (2006) 3.87
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Nat Genet (2004) 3.86
Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes (2007) 3.84
Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressure. Nat Genet (2009) 3.81
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Common genetic variation and the control of HIV-1 in humans. PLoS Genet (2009) 3.68
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Fatty liver is associated with dyslipidemia and dysglycemia independent of visceral fat: the Framingham Heart Study. Hepatology (2010) 3.60
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet (2011) 3.57
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat Genet (2011) 3.55
A highly significant association between a COMT haplotype and schizophrenia. Am J Hum Genet (2002) 3.52
Selective release of microRNA species from normal and malignant mammary epithelial cells. PLoS One (2010) 3.50
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med (2011) 3.46
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci U S A (2010) 3.33
Comprehensive splice-site analysis using comparative genomics. Nucleic Acids Res (2006) 3.30
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes Dev (2004) 3.21
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell (2012) 3.21
Beyond Mendel: an evolving view of human genetic disease transmission. Nat Rev Genet (2002) 3.19
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest (2009) 3.19
NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. PLoS Genet (2009) 3.18
Contribution of clinical correlates and 13 C-reactive protein gene polymorphisms to interindividual variability in serum C-reactive protein level. Circulation (2006) 3.15
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. Nat Genet (2011) 3.10
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. PLoS Genet (2011) 3.07
The landscape of recombination in African Americans. Nature (2011) 3.06
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet (2006) 3.06
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
Central precocious puberty caused by mutations in the imprinted gene MKRN3. N Engl J Med (2013) 3.04
Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. Lancet (2011) 3.03