Published in PLoS Genet on September 08, 2011
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet (2012) 2.12
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Hum Mol Genet (2012) 0.92
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Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome. Am J Med Genet A (2013) 0.79
Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies. Mol Cytogenet (2012) 0.78
Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability. Mol Cytogenet (2015) 0.78
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The transcription factor gene Nfib is essential for both lung maturation and brain development. Mol Cell Biol (2005) 2.09
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Eleven new cases of del(9p) and features from 80 cases. J Med Genet (1988) 1.79
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The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis. Proc Natl Acad Sci U S A (2004) 1.41
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Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proc Natl Acad Sci U S A (2010) 1.36
Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. Proc Natl Acad Sci U S A (2006) 1.36
A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development. Genome Biol (2008) 1.35
FGF9 monomer-dimer equilibrium regulates extracellular matrix affinity and tissue diffusion. Nat Genet (2009) 1.26
The dermatoglyphic and clinical features of the 9p trisomy and partial 9p monosomy syndromes. Hum Genet (1982) 1.26
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. Am J Med Genet A (2008) 1.24
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. J Med Genet (2011) 1.11
Overlapping and divergent localization of Frem1 and Fras1 and its functional implications during mouse embryonic development. Exp Cell Res (2006) 1.10
Palmitoylation regulates epidermal homeostasis and hair follicle differentiation. PLoS Genet (2009) 1.04
Head blebs: a new mutation on chromosome 4 of the mouse. J Hered (1981) 1.04
Evolution in the frequency of nonsyndromic craniosynostosis. J Neurosurg Pediatr (2009) 1.00
Multi-exon deletions of the FBN1 gene in Marfan syndrome. BMC Med Genet (2001) 0.97
The increase of metopic synostosis: a pan-European observation. J Craniofac Surg (2009) 0.96
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Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. Cleft Palate Craniofac J (2006) 0.81
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Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science (2009) 21.24
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med (2012) 10.80
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
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet (2004) 6.90
Neonatal MRI to predict neurodevelopmental outcomes in preterm infants. N Engl J Med (2006) 6.86
Self-organizing optic-cup morphogenesis in three-dimensional culture. Nature (2011) 6.51
Standardizing global gene expression analysis between laboratories and across platforms. Nat Methods (2005) 6.23
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
Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas. N Engl J Med (2015) 5.71
The complete genome sequence of the Arabidopsis and tomato pathogen Pseudomonas syringae pv. tomato DC3000. Proc Natl Acad Sci U S A (2003) 5.62
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet (2003) 5.43
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet (2003) 4.34
Self-formation of optic cups and storable stratified neural retina from human ESCs. Cell Stem Cell (2012) 3.85
A simplified laminin nomenclature. Matrix Biol (2005) 3.81
Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells. Nature (2012) 3.74
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
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes. Cell (2013) 3.47
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet (2002) 3.43
The TIGR rice genome annotation resource: annotating the rice genome and creating resources for plant biologists. Nucleic Acids Res (2003) 3.12
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med (2011) 3.11
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
Outcomes of prenatal antidepressant exposure. Am J Psychiatry (2002) 3.07
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma. N Engl J Med (2015) 3.00
Treatment of pressure ulcers: a systematic review. JAMA (2008) 2.96
Disease gene identification strategies for exome sequencing. Eur J Hum Genet (2012) 2.89
Adverse neurodevelopment in preterm infants with postnatal sepsis or necrotizing enterocolitis is mediated by white matter abnormalities on magnetic resonance imaging at term. J Pediatr (2008) 2.71
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2011) 2.69
A novel murine model of hypertrophic scarring using subcutaneous infusion of bleomycin. Plast Reconstr Surg (2014) 2.67
Cutaneous dirt-adherent disease with single apparent transverse leukonychia on the fingernails. Arch Dermatol (2009) 2.65
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
Macroporous nanowire nanoelectronic scaffolds for synthetic tissues. Nat Mater (2012) 2.57
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell (2010) 2.49
Survival without disability to age 5 years after neonatal caffeine therapy for apnea of prematurity. JAMA (2012) 2.46
Gene RB cloned from Solanum bulbocastanum confers broad spectrum resistance to potato late blight. Proc Natl Acad Sci U S A (2003) 2.43
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
Precision and error of three-dimensional phenotypic measures acquired from 3dMD photogrammetric images. Am J Med Genet A (2005) 2.39
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
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet (2002) 2.30
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
The genetic basis of a craniofacial disease provides insight into COPII coat assembly. Dev Cell (2007) 2.26
MicroRNA-1 and -499 regulate differentiation and proliferation in human-derived cardiomyocyte progenitor cells. Arterioscler Thromb Vasc Biol (2010) 2.23
Disruption of tumor neovasculature by microbubble enhanced ultrasound: a potential new physical therapy of anti-angiogenesis. Ultrasound Med Biol (2011) 2.18
The FaceBase Consortium: a comprehensive program to facilitate craniofacial research. Dev Biol (2011) 2.16
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet (2007) 2.16
Allogeneic bone marrow transplantation: cure for familial Mediterranean fever. Blood (2002) 2.15
Compensatory growth of healthy cardiac cells in the presence of diseased cells restores tissue homeostasis during heart development. Dev Cell (2008) 2.15
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
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet (2012) 2.12
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet (2012) 2.12
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09
The quality of reporting of randomized controlled trials of traditional Chinese medicine: a survey of 13 randomly selected journals from mainland China. Clin Ther (2007) 2.08
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat (2013) 2.07
Visual word processing and experiential origins of functional selectivity in human extrastriate cortex. Proc Natl Acad Sci U S A (2007) 2.06
p63-associated disorders. Cell Cycle (2007) 2.05
Maternal ethanol consumption alters the epigenotype and the phenotype of offspring in a mouse model. PLoS Genet (2010) 2.03
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci (2010) 1.98
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet (2011) 1.98
Ophthalmic sequelae of Crouzon syndrome. Ophthalmology (2005) 1.94
Molecular and cytological analyses of large tracks of centromeric DNA reveal the structure and evolutionary dynamics of maize centromeres. Genetics (2003) 1.92
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. Science (2013) 1.91
WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn (2010) 1.91
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet (2012) 1.90
Distinctive patterns of gene expression in premalignant gastric mucosa and gastric cancer. Cancer Res (2003) 1.88
Subclassification of the RBCC/TRIM superfamily reveals a novel motif necessary for microtubule binding. J Biol Chem (2006) 1.88
Oral drug therapy for multiple neglected tropical diseases: a systematic review. JAMA (2007) 1.88
The basement membrane of hair follicle stem cells is a muscle cell niche. Cell (2011) 1.88
Identification of disease genes by whole genome CGH arrays. Hum Mol Genet (2005) 1.85
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet (2009) 1.84
Array-based comparative genomic hybridization for the differential diagnosis of renal cell cancer. Cancer Res (2002) 1.84
Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet (2003) 1.83
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet (2009) 1.83