Published in Hum Mol Genet on December 07, 2012
Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes. Hum Genet (2013) 0.81
Identification and expression analysis of zebrafish glypicans during embryonic development. PLoS One (2013) 0.77
A novel (paternally inherited) duplication 13q31.3q32.3 in a 12-year-old patient with facial dysmorphism and developmental delay. Mol Syndromol (2014) 0.75
Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans. Scientifica (Cairo) (2017) 0.75
Association between chromosomal aberration of COX8C and tethered spinal cord syndrome: array-based comparative genomic hybridization analysis. Neural Regen Res (2016) 0.75
Genomic approaches to the assessment of human spina bifida risk. Birth Defects Res A Clin Mol Teratol (2016) 0.75
Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned. Am J Med Genet A (2017) 0.75
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature (2009) 9.47
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet (2008) 8.44
Common vs. rare allele hypotheses for complex diseases. Curr Opin Genet Dev (2009) 6.85
Statistical analysis strategies for association studies involving rare variants. Nat Rev Genet (2010) 6.79
Molecular subtypes of diffuse large B-cell lymphoma arise by distinct genetic pathways. Proc Natl Acad Sci U S A (2008) 5.90
Quantifying the effect of folic acid. Lancet (2001) 4.86
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
The genetic basis of mammalian neurulation. Nat Rev Genet (2003) 4.14
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet (2009) 3.86
Tissue/planar cell polarity in vertebrates: new insights and new questions. Development (2007) 3.66
Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tail. Nat Genet (2001) 3.47
The role of Frizzled3 and Frizzled6 in neural tube closure and in the planar polarity of inner-ear sensory hair cells. J Neurosci (2006) 3.36
Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse. Curr Biol (2003) 3.31
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
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Etiologic heterogeneity of neural-tube defects. N Engl J Med (1976) 2.71
Dishevelled 2 is essential for cardiac outflow tract development, somite segmentation and neural tube closure. Development (2002) 2.71
The zebrafish glypican knypek controls cell polarity during gastrulation movements of convergent extension. Dev Cell (2001) 2.64
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet (2007) 2.59
Neural tube closure requires Dishevelled-dependent convergent extension of the midline. Development (2002) 2.52
Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification. Hum Mol Genet (2001) 2.28
The risk of recurrence after two children with central-nervous-system malformations. Lancet (1967) 2.28
Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects. Birth Defects Res A Clin Mol Teratol (2007) 2.20
Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse. Hum Mol Genet (2003) 2.11
Genetics and development of neural tube defects. J Pathol (2010) 2.10
A gene expression screen in zebrafish embryogenesis. Genome Res (2001) 2.08
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet (2011) 2.04
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics (2008) 2.00
Planar cell polarity links axes of spatial dynamics in neural-tube closure. Cell (2012) 1.98
An update to the list of mouse mutants with neural tube closure defects and advances toward a complete genetic perspective of neural tube closure. Birth Defects Res A Clin Mol Teratol (2010) 1.97
Epidemiologic and genetic aspects of spina bifida and other neural tube defects. Dev Disabil Res Rev (2010) 1.96
Shaping morphogen gradients by proteoglycans. Cold Spring Harb Perspect Biol (2009) 1.96
CGH microarrays and cancer. Curr Opin Biotechnol (2007) 1.77
Frizzled signalling and cell polarisation in Drosophila and vertebrates. Development (2003) 1.76
The adhesion signaling molecule p190 RhoGAP is required for morphogenetic processes in neural development. Development (2000) 1.74
Mouse models for neural tube closure defects. Hum Mol Genet (2000) 1.73
Depletion of three BMP antagonists from Spemann's organizer leads to a catastrophic loss of dorsal structures. Dev Cell (2005) 1.72
Folic acid, pernicious anaemia, and prevention of neural tube defects. Lancet (1994) 1.69
Noncanonical Wnt signaling and neural polarity. Annu Rev Neurosci (2006) 1.63
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. Hum Mutat (2004) 1.61
VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. Ophthalmology (2004) 1.58
The genetics of tethered cord syndrome. Am J Med Genet A (2005) 1.40
Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1(XVIII) collagen gene to mouse chromosome 10 and human chromosome 21. Genomics (1994) 1.38
Strategies of vertebrate neurulation and a re-evaluation of teleost neural tube formation. Mech Dev (2004) 1.37
Mini-review: toward understanding mechanisms of genetic neural tube defects in mice. Teratology (1999) 1.34
Redundant activities of Tfap2a and Tfap2c are required for neural crest induction and development of other non-neural ectoderm derivatives in zebrafish embryos. Dev Biol (2006) 1.33
Gene-environment interactions in the causation of neural tube defects: folate deficiency increases susceptibility conferred by loss of Pax3 function. Hum Mol Genet (2008) 1.33
Neural tube closure and neural tube defects: studies in animal models reveal known knowns and known unknowns. Am J Med Genet C Semin Med Genet (2005) 1.31
Neural plate morphogenesis during mouse neurulation is regulated by antagonism of Bmp signalling. Development (2007) 1.27
Expression of the cell surface proteoglycan glypican-5 is developmentally regulated in kidney, limb, and brain. Dev Biol (1997) 1.25
Role of glypican 4 in the regulation of convergent extension movements during gastrulation in Xenopus laevis. Development (2003) 1.24
Planar cell polarity signaling: a common mechanism for cellular polarization. Mt Sinai J Med (2006) 1.18
Glypican-5 stimulates rhabdomyosarcoma cell proliferation by activating Hedgehog signaling. J Cell Biol (2011) 1.14
Ultrasonographic diagnosis of trisomy 18: is it practical in the early second trimester? J Ultrasound Med (1998) 1.11
Transcription factor Ap-2alpha is necessary for development of embryonic melanophores, autonomic neurons and pharyngeal skeleton in zebrafish. Dev Biol (2004) 1.11
Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects. Hum Mutat (2011) 1.11
Wnt/PCP signaling: a veritable polar star in establishing patterns of polarity in embryonic tissues. Semin Cell Dev Biol (2006) 1.11
Histological and ultrastructural studies of secondary neurulation in mouse embryos. Am J Anat (1984) 1.10
Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals. Birth Defects Res A Clin Mol Teratol (2008) 1.07
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum Mutat (2011) 1.06
Association of NPAS3 exonic variation with schizophrenia. Schizophr Res (2010) 1.05
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. Am J Hum Genet (2002) 1.04
Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance. Am J Med Genet (1994) 1.02
Clefting syndromes associated with retinal detachment. Am J Ophthalmol (1972) 1.02
Pathophysiology, prevention, and potential treatment of neural tube defects. Ment Retard Dev Disabil Res Rev (2000) 1.01
Autosomal recessive vitreoretinopathy and encephaloceles. Am J Ophthalmol (1982) 0.99
Folic acid food fortification to prevent neural tube defects. Lancet (1998) 0.98
The BMP antagonist Noggin promotes cranial and spinal neurulation by distinct mechanisms. Dev Biol (2006) 0.96
Glypican 4 modulates FGF signalling and regulates dorsoventral forebrain patterning in Xenopus embryos. Development (2003) 0.95
A dominantly inherited syndrome of hyaloideoretinal degeneration, cleft palate and maxillary hypoplasia (Cervenka syndrome). Birth Defects Orig Artic Ser (1971) 0.94
Cell polarity pathways converge and extend to regulate neural tube closure. Trends Cell Biol (2003) 0.94
Lack of type XVIII collagen results in anterior ocular defects. FASEB J (2003) 0.92
Understanding the causes and prevention of neural tube defects: Insights from the splotch mouse model. Birth Defects Res A Clin Mol Teratol (2009) 0.90
Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. Am J Med Genet A (2003) 0.90
Roles of planar cell polarity pathways in the development of neural [correction of neutral] tube defects. J Biomed Sci (2011) 0.88
Cephalocele detection in utero: sonographic and clinical features. Ultrasound Obstet Gynecol (1995) 0.88
Neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34. Am J Med Genet (2000) 0.87
Rescue of the neural tube defect of loop-tail mice by a BAC clone containing the Ltap gene. Genomics (2003) 0.87
Testing for genetic associations with the PAX gene family in a spina bifida population. Am J Med Genet (2002) 0.87
Histone acetylation and subcellular localization of chromosomal protein BRD4 during mouse oocyte meiosis and mitosis. Mol Hum Reprod (2007) 0.86
Non-multifactorial neural tube defects. Am J Med Genet C Semin Med Genet (2005) 0.86
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism. Clin Genet (2004) 0.85
A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome. J Med Genet (1995) 0.85
Endoplasmic reticulum association and N-linked glycosylation of the human Nrf3 transcription factor. FEBS Lett (2007) 0.84
Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects. Dev Biol (1999) 0.84
Planar cell polarity pathway genes and risk for spina bifida. Am J Med Genet A (2010) 0.83
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Neural tube defects and deletions of 22q11. Am J Med Genet (1996) 0.83
Evaluation of the Cited2 gene and risk for spina bifida and congenital heart defects. Am J Med Genet A (2004) 0.82
Maternal Tgif1 regulates nodal gene expression in Xenopus. Dev Dyn (2008) 0.81
Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida. Eur J Med Genet (2007) 0.81
Evaluation of the jumonji gene and risk for spina bifida and congenital heart defects. Am J Med Genet A (2004) 0.81
Velo-cardio-facial and DiGeorge syndromes with meningomyelocele and deletions of the 22Q11 region. Eur J Pediatr Surg (1993) 0.80
A screen for mutations in human homologues of mice exencephaly genes Tfap2alpha and Msx2 in patients with neural tube defects. Teratology (2001) 0.78
Evaluation of BMP4 and its specific inhibitor NOG as candidates in human neural tube defects (NTDs). Eur J Hum Genet (2002) 0.78
A case of duplication of 13q32-->qter and deletion of 18p11.32-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited. J Med Genet (1996) 0.77
Prenatal malformed lumbar vertebral corpora in trisomies 21, 18, and 13, evaluated radiographically and histologically. APMIS (2000) 0.77
A novel mutation in the gene encoding noggin is not causative in human neural tube defects. J Neurogenet (2002) 0.77
International network of cancer genome projects. Nature (2010) 20.35
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature (2012) 8.31
The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer. Nat Genet (2009) 6.99
The ecoresponsive genome of Daphnia pulex. Science (2011) 6.55
Functional enhancers at the gene-poor 8q24 cancer-linked locus. PLoS Genet (2009) 3.59
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell (2011) 3.03
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci (2006) 2.93
Role for a Drosophila Myb-containing protein complex in site-specific DNA replication. Nature (2002) 2.61
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet (2008) 2.58
Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol (2013) 2.22
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med (2007) 2.20
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. PLoS Genet (2009) 2.12
Defective skeletogenesis with kidney stone formation in dwarf zebrafish mutant for trpm7. Curr Biol (2005) 2.05
Epidemiologic and genetic aspects of spina bifida and other neural tube defects. Dev Disabil Res Rev (2010) 1.96
Genomic profiling and expression studies reveal both positive and negative activities for the Drosophila Myb MuvB/dREAM complex in proliferating cells. Genes Dev (2007) 1.95
Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet (2007) 1.94
Cell death of melanophores in zebrafish trpm7 mutant embryos depends on melanin synthesis. J Invest Dermatol (2007) 1.91
Spinal lesion level in spina bifida: a source of neural and cognitive heterogeneity. J Neurosurg (2005) 1.89
Plasticity of animal genome architecture unmasked by rapid evolution of a pelagic tunicate. Science (2010) 1.86
pygopus Encodes a nuclear protein essential for wingless/Wnt signaling. Development (2002) 1.82
Temporal coordination of gene networks by Zelda in the early Drosophila embryo. PLoS Genet (2011) 1.82
The fate of human malignant melanoma cells transplanted into zebrafish embryos: assessment of migration and cell division in the absence of tumor formation. Dev Dyn (2005) 1.78
Stability and dynamics of polycomb target sites in Drosophila development. PLoS Genet (2008) 1.72
BeetleBase in 2010: revisions to provide comprehensive genomic information for Tribolium castaneum. Nucleic Acids Res (2009) 1.70
The Reactome BioMart. Database (Oxford) (2011) 1.66
Comprehensive identification of Drosophila dorsal-ventral patterning genes using a whole-genome tiling array. Proc Natl Acad Sci U S A (2006) 1.66
Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nat Genet (2004) 1.62
Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am J Hum Genet (2011) 1.60
Spatial regulation of microRNA gene expression in the Drosophila embryo. Proc Natl Acad Sci U S A (2005) 1.55
Redundant activities of Tfap2a and Tfap2c are required for neural crest induction and development of other non-neural ectoderm derivatives in zebrafish embryos. Dev Biol (2006) 1.33
PhyloWGS: reconstructing subclonal composition and evolution from whole-genome sequencing of tumors. Genome Biol (2015) 1.17
Skeletal muscle denervation causes skeletal muscle atrophy through a pathway that involves both Gadd45a and HDAC4. Am J Physiol Endocrinol Metab (2013) 1.17
Identification of early requirements for preplacodal ectoderm and sensory organ development. PLoS Genet (2010) 1.14
Stress-induced skeletal muscle Gadd45a expression reprograms myonuclei and causes muscle atrophy. J Biol Chem (2012) 1.13
Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida. Am J Obstet Gynecol (2009) 1.12
Calcium fluxes in dorsal forerunner cells antagonize beta-catenin and alter left-right patterning. Development (2007) 1.12
Transcription factor Ap-2alpha is necessary for development of embryonic melanophores, autonomic neurons and pharyngeal skeleton in zebrafish. Dev Biol (2004) 1.11
Interferon regulatory factor 6 promotes differentiation of the periderm by activating expression of Grainyhead-like 3. J Invest Dermatol (2012) 1.09
Protist homologs of the meiotic Spo11 gene and topoisomerase VI reveal an evolutionary history of gene duplication and lineage-specific loss. Mol Biol Evol (2007) 1.09
Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals. Birth Defects Res A Clin Mol Teratol (2008) 1.07
Genes in glucose metabolism and association with spina bifida. Reprod Sci (2008) 1.07
A novel role for a nodal-related protein; Xnr3 regulates convergent extension movements via the FGF receptor. Development (2003) 1.02
Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex. J Child Neurol (2008) 1.02
Molecular genetic basis of tuberous sclerosis complex: from bench to bedside. J Child Neurol (2004) 1.01
Expression of the neural stem cell markers NG2 and L1 in human angiomyolipoma: are angiomyolipomas neoplasms of stem cells? Mol Med (2007) 1.01
Maternal Interferon Regulatory Factor 6 is required for the differentiation of primary superficial epithelia in Danio and Xenopus embryos. Dev Biol (2008) 1.01
Target specificity of the Candida albicans Efg1 regulator. Mol Microbiol (2011) 1.00
Distinct requirements for wnt9a and irf6 in extension and integration mechanisms during zebrafish palate morphogenesis. Development (2012) 1.00
The use of antisense oligonucleotides in Xenopus oocytes. Methods (2010) 0.99
Optimization of paper bridge loading for 2-DE analysis in the basic pH region: application to the mitochondrial subproteome. Proteomics (2006) 0.98
PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders. PLoS One (2013) 0.97
Deletion 12q: a second patient with 12q24.31q24.32 deletion. Am J Med Genet A (2003) 0.96
Obstetrics/gynecology residents' knowledge of hereditary breast and ovarian cancer and Lynch syndrome. J Cancer Educ (2010) 0.93
Association of folate receptor (FOLR1, FOLR2, FOLR3) and reduced folate carrier (SLC19A1) genes with meningomyelocele. Birth Defects Res A Clin Mol Teratol (2010) 0.93
OikoBase: a genomics and developmental transcriptomics resource for the urochordate Oikopleura dioica. Nucleic Acids Res (2012) 0.91
A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse. PLoS Genet (2012) 0.91
Novel Tfap2-mediated control of soxE expression facilitated the evolutionary emergence of the neural crest. Development (2012) 0.91
Identification of germ plasm-associated transcripts by microarray analysis of Xenopus vegetal cortex RNA. Dev Dyn (2010) 0.91
Differentiation of zebrafish melanophores depends on transcription factors AP2 alpha and AP2 epsilon. PLoS Genet (2010) 0.90
Introduction to the newborn screening fact sheets. Pediatrics (2006) 0.90
Expression profiling during mammary epithelial cell three-dimensional morphogenesis identifies PTPRO as a novel regulator of morphogenesis and ErbB2-mediated transformation. Mol Cell Biol (2012) 0.89
Maternal mRNA knock-down studies: antisense experiments using the host-transfer technique in Xenopus laevis and Xenopus tropicalis. Methods Mol Biol (2012) 0.89
Vegetally localized Xenopus trim36 regulates cortical rotation and dorsal axis formation. Development (2009) 0.89
Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. Hum Mutat (2013) 0.88
To spear or not to spear: comparison of saliva collection methods. Dev Psychobiol (2008) 0.87
Genomic and proteomic studies on the effects of the insect growth regulator diflubenzuron in the model beetle species Tribolium castaneum. Insect Biochem Mol Biol (2011) 0.86
The impact of BRCA1 on spina bifida meningomyelocele lesions. Ann Hum Genet (2007) 0.86
An assessment of risk understanding in Hispanic genetic counseling patients. J Genet Couns (2005) 0.86
Animal-specific C-terminal domain links myeloblastosis oncoprotein (Myb) to an ancient repressor complex. Proc Natl Acad Sci U S A (2011) 0.85
Association of copper-zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes with nonsyndromic myelomeningocele. Birth Defects Res A Clin Mol Teratol (2012) 0.84
Fertilization of Xenopus oocytes using the host transfer method. J Vis Exp (2010) 0.84
The insulator protein Suppressor of Hairy-wing is an essential transcriptional repressor in the Drosophila ovary. Development (2013) 0.83
Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets. Clin Endocrinol (Oxf) (2011) 0.82
WaveCNV: allele-specific copy number alterations in primary tumors and xenograft models from next-generation sequencing. Bioinformatics (2013) 0.82
Association of retinoic acid receptor genes with meningomyelocele. Birth Defects Res A Clin Mol Teratol (2010) 0.82
Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome. Genet Med (2006) 0.82
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders. Am J Med Genet A (2015) 0.81
Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA. Pediatr Res (2006) 0.81
Novel single nucleotide polymorphisms in the superoxide dismutase 1 and 2 genes among children with myelomeningocele. Am J Obstet Gynecol (2013) 0.81
Use of fully modified 2'-O-methyl antisense oligos for loss-of-function studies in vertebrate embryos. Genesis (2011) 0.81
ChIP-chip designs to interrogate the genome of Xenopus embryos for transcription factor binding and epigenetic regulation. PLoS One (2010) 0.81
Maternal Tgif1 regulates nodal gene expression in Xenopus. Dev Dyn (2008) 0.81
Maternal Dead-End1 is required for vegetal cortical microtubule assembly during Xenopus axis specification. Development (2013) 0.81