Published in Am J Med Genet A on November 19, 2012
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med (2013) 1.56
Development of the diaphragm -- a skeletal muscle essential for mammalian respiration. FEBS J (2013) 0.99
Muscle connective tissue controls development of the diaphragm and is a source of congenital diaphragmatic hernias. Nat Genet (2015) 0.92
Genetic causes of congenital diaphragmatic hernia. Semin Fetal Neonatal Med (2014) 0.88
Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics. Proc Natl Acad Sci U S A (2014) 0.86
Decreased expression of hepatocyte growth factor in the nitrofen model of congenital diaphragmatic hernia. Pediatr Surg Int (2016) 0.77
Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy. Case Rep Obstet Gynecol (2017) 0.75
Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies. Am J Pathol (2016) 0.75
Identification of candidate genes for congenital heart defects on proximal chromosome 8p. Sci Rep (2016) 0.75
Congenital diaphragmatic hernias: from genes to mechanisms to therapies. Dis Model Mech (2017) 0.75
The human genome browser at UCSC. Genome Res (2002) 168.23
Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol (2000) 128.08
The UCSC Genome Browser Database: update 2006. Nucleic Acids Res (2006) 11.05
A human phenome-interactome network of protein complexes implicated in genetic disorders. Nat Biotechnol (2007) 9.90
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature (2003) 6.40
Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology. PLoS Genet (2011) 6.20
A large-scale analysis of tissue-specific pathology and gene expression of human disease genes and complexes. Proc Natl Acad Sci U S A (2008) 3.57
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet (2001) 3.57
FOG-2, a cofactor for GATA transcription factors, is essential for heart morphogenesis and development of coronary vessels from epicardium. Cell (2000) 2.86
Nihilism in the 1990s: the true mortality of congenital diaphragmatic hernia. Pediatrics (2003) 2.50
14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nat Genet (2003) 2.27
Localization of transcription factor GATA-4 to regions of the mouse embryo involved in cardiac development. Dev Biol (1994) 2.00
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet Med (2007) 1.84
Spectrum of heart disease associated with murine and human GATA4 mutation. J Mol Cell Cardiol (2007) 1.71
SOX7 transcription factor: sequence, chromosomal localisation, expression, transactivation and interference with Wnt signalling. Nucleic Acids Res (2001) 1.71
Fog2 is required for normal diaphragm and lung development in mice and humans. PLoS Genet (2005) 1.69
Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia. Proc Natl Acad Sci U S A (2005) 1.65
Outcomes of congenital diaphragmatic hernia: a population-based study in Western Australia. Pediatrics (2005) 1.62
Genetics of human heterotaxias. Eur J Hum Genet (2006) 1.59
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. Am J Hum Genet (1999) 1.56
Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. Am J Hum Genet (2005) 1.52
Gata4 expression in lateral mesoderm is downstream of BMP4 and is activated directly by Forkhead and GATA transcription factors through a distal enhancer element. Development (2005) 1.51
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A (2009) 1.40
Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects. Dev Biol (2006) 1.36
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet (2007) 1.36
Dissecting spatio-temporal protein networks driving human heart development and related disorders. Mol Syst Biol (2010) 1.35
Experimental study on embryogenesis of congenital diaphragmatic hernia. Anat Embryol (Berl) (1984) 1.30
Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. Eur J Hum Genet (2006) 1.29
Interaction of Gata4 and Gata6 with Tbx5 is critical for normal cardiac development. Dev Biol (2008) 1.29
High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes. Hum Mutat (2008) 1.25
Medical applications of array CGH and the transformation of clinical cytogenetics. Cytogenet Genome Res (2006) 1.25
Embryological origins and development of the rat diaphragm. J Comp Neurol (2003) 1.12
Sox7 plays crucial roles in parietal endoderm differentiation in F9 embryonal carcinoma cells through regulating Gata-4 and Gata-6 expression. Mol Cell Biol (2004) 1.09
NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. Am J Hum Genet (2000) 1.09
Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter----8p23.1:). Ann Genet (1989) 1.08
Development of the diaphragm and genetic mouse models of diaphragmatic defects. Am J Med Genet C Semin Med Genet (2007) 1.07
Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1. Hum Mol Genet (2012) 1.02
Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes. Proc Natl Acad Sci U S A (2012) 1.01
Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia. Am J Med Genet A (2005) 1.01
Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. Am J Hum Genet (2001) 0.99
Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics. Am J Med Genet C Semin Med Genet (2007) 0.99
From karyotyping to array-CGH in prenatal diagnosis. Cytogenet Genome Res (2011) 0.98
Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature. Eur J Med Genet (2010) 0.97
Congenital posterolateral diaphragmatic hernia: associated malformations. J Pediatr Surg (1988) 0.96
Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome. Ann Genet (1995) 0.95
The embryology of the diaphragm. Semin Pediatr Surg (2011) 0.94
A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8. Am J Med Genet (1997) 0.93
Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism. PLoS One (2009) 0.92
Cardiac defects are infrequent findings in individuals with 8p23.1 genomic duplications containing GATA4. Circ Cardiovasc Genet (2011) 0.92
Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH). Prenat Diagn (2010) 0.91
A novel GATA4 loss-of-function mutation associated with congenital ventricular septal defect. Pediatr Cardiol (2011) 0.91
8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families. Mol Cytogenet (2010) 0.90
Sonographic features of trisomy 18 at midpregnancy. J Obstet Gynaecol Res (2002) 0.90
Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event: congenital diaphragmatic hernia. Am J Med Genet A (2004) 0.88
A novel GATA4 mutation responsible for congenital ventricular septal defects. Int J Mol Med (2011) 0.88
Involvement of a novel GATA4 mutation in atrial septal defects. Int J Mol Med (2011) 0.88
Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses. Prenat Diagn (2011) 0.87
Pallister-Killian syndrome: difficulties of prenatal diagnosis. Prenat Diagn (2002) 0.87
Impact of AMICAR on hemorrhagic complications of ECMO: a ten-year review. J Pediatr Surg (2003) 0.86
Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome. Am J Med Genet A (2008) 0.83
Retinoid pathway and congenital diaphragmatic hernia: hypothesis from the analysis of chromosomal abnormalities. Fetal Diagn Ther (2010) 0.82
Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1. Prenat Diagn (2007) 0.78
Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions. J Med Genet (2007) 0.78
Congenital diaphragmatic hernia: 22 years experience in a single tertiary medical center. Isr Med Assoc J (2008) 0.76
Global variation in copy number in the human genome. Nature (2006) 57.50
Detection of large-scale variation in the human genome. Nat Genet (2004) 49.18
Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer. Science (2005) 39.06
MET amplification leads to gefitinib resistance in lung cancer by activating ERBB3 signaling. Science (2007) 32.68
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science (2007) 23.38
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet (2008) 15.89
Common deletion polymorphisms in the human genome. Nat Genet (2006) 15.66
Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma. Nature (2005) 15.28
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
EMBL Nucleotide Sequence Database in 2006. Nucleic Acids Res (2006) 9.72
EML4-ALK fusion gene and efficacy of an ALK kinase inhibitor in lung cancer. Clin Cancer Res (2008) 9.29
Copy number variation: new insights in genome diversity. Genome Res (2006) 8.66
Diet and the evolution of human amylase gene copy number variation. Nat Genet (2007) 8.64
The zebrafish reference genome sequence and its relationship to the human genome. Nature (2013) 8.52
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med (2011) 8.26
Preexistence and clonal selection of MET amplification in EGFR mutant NSCLC. Cancer Cell (2010) 7.78
TMPRSS2:ERG fusion-associated deletions provide insight into the heterogeneity of prostate cancer. Cancer Res (2006) 7.61
Genome assembly comparison identifies structural variants in the human genome. Nat Genet (2006) 6.93
A highly annotated whole-genome sequence of a Korean individual. Nature (2009) 6.91
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet (2002) 6.29
Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology. PLoS Genet (2011) 6.20
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
Challenges and standards in integrating surveys of structural variation. Nat Genet (2007) 6.05
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Res (2006) 5.97
Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res (2006) 5.50
Histone H2AX: a dosage-dependent suppressor of oncogenic translocations and tumors. Cell (2003) 5.26
EMBL Nucleotide Sequence Database: developments in 2005. Nucleic Acids Res (2006) 5.13
The fine-scale and complex architecture of human copy-number variation. Am J Hum Genet (2008) 5.08
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature (2011) 4.85
Ovarian cancer side population defines cells with stem cell-like characteristics and Mullerian Inhibiting Substance responsiveness. Proc Natl Acad Sci U S A (2006) 4.66
Pervasive sharing of genetic effects in autoimmune disease. PLoS Genet (2011) 4.42
Completing the map of human genetic variation. Nature (2007) 4.38
Landscape of somatic retrotransposition in human cancers. Science (2012) 4.37
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res (2009) 4.32
Unrepaired DNA breaks in p53-deficient cells lead to oncogenic gene amplification subsequent to translocations. Cell (2002) 4.29
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
BRAF mutations are sufficient to promote nevi formation and cooperate with p53 in the genesis of melanoma. Curr Biol (2005) 3.68
Hotspots for copy number variation in chimpanzees and humans. Proc Natl Acad Sci U S A (2006) 3.68
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet (2010) 3.64
A large-scale analysis of tissue-specific pathology and gene expression of human disease genes and complexes. Proc Natl Acad Sci U S A (2008) 3.57
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat Genet (2010) 3.52
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat Genet (2010) 3.49
A p53-dependent checkpoint pathway prevents rereplication. Mol Cell (2003) 3.42
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet (2009) 3.42
Genomic portrait of resectable hepatocellular carcinomas: implications of RB1 and FGF19 aberrations for patient stratification. Hepatology (2014) 3.31
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet (2007) 3.26
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol (2011) 3.25
A murine lung cancer co-clinical trial identifies genetic modifiers of therapeutic response. Nature (2012) 3.24
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell (2012) 3.21
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet (2002) 3.09
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature (2012) 3.08
Sex determination and differentiation. N Engl J Med (2004) 3.07
Distinct genomic aberrations associated with ERG rearranged prostate cancer. Genes Chromosomes Cancer (2009) 3.03
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Temporal profile of replication of human chromosomes. Proc Natl Acad Sci U S A (2005) 2.85
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat (2009) 2.81
Towards a comprehensive structural variation map of an individual human genome. Genome Biol (2010) 2.79
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals. Nat Genet (2011) 2.74
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA (2009) 2.72
Copy number variation and evolution in humans and chimpanzees. Genome Res (2008) 2.69
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet (2008) 2.68
Proteomic analysis of lysine acetylation sites in rat tissues reveals organ specificity and subcellular patterns. Cell Rep (2012) 2.66
Elements of morphology: standard terminology for the ear. Am J Med Genet A (2009) 2.64
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet (2007) 2.59
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet (2008) 2.59
Virtual HDR CyberKnife treatment for localized prostatic carcinoma: dosimetry comparison with HDR brachytherapy and preliminary clinical observations. Int J Radiat Oncol Biol Phys (2008) 2.59
Adaptive evolution of UGT2B17 copy-number variation. Am J Hum Genet (2008) 2.58
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet (2010) 2.52
Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. Am J Med Genet (2002) 2.50
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheum (2010) 2.50
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science (2011) 2.47
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nat Genet (2012) 2.45
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
Surgical airway management in Pierre Robin sequence: is there a role for tongue-lip adhesion? Cleft Palate Craniofac J (2003) 2.37
Ubiquitin accumulation in autophagy-deficient mice is dependent on the Nrf2-mediated stress response pathway: a potential role for protein aggregation in autophagic substrate selection. J Cell Biol (2010) 2.32
Apolipoprotein E genotype and neurodevelopmental sequelae of infant cardiac surgery. J Thorac Cardiovasc Surg (2003) 2.25
A zebrafish bmyb mutation causes genome instability and increased cancer susceptibility. Proc Natl Acad Sci U S A (2005) 2.19
Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Am J Psychiatry (2014) 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
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet (2003) 2.10
Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09
Bacterial diversity in necrotizing ulcerative periodontitis in HIV-positive subjects. Ann Periodontol (2002) 2.08
A mechanism for gene-environment interaction in the etiology of congenital scoliosis. Cell (2012) 2.08
Conditional deletion of beta-catenin in the mesenchyme of the developing mouse uterus results in a switch to adipogenesis in the myometrium. Dev Biol (2005) 2.07