Published in Am J Hum Genet on October 20, 2011
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Application of synthetic photostable retinoids induces novel limb and facial phenotypes during chick embryogenesis in vivo. J Anat (2013) 1.38
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The ontology of craniofacial development and malformation for translational craniofacial research. Am J Med Genet C Semin Med Genet (2013) 1.19
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Revisiting the role of retinoid signaling in skeletal development. Birth Defects Res C Embryo Today (2003) 1.15
Retinoic acid synthesis controlled by Raldh2 is required early for limb bud initiation and then later as a proximodistal signal during apical ectodermal ridge formation. J Biol Chem (2004) 1.13
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Restriction of retinoic acid activity by Cyp26b1 is required for proper timing and patterning of osteogenesis during zebrafish development. Development (2008) 1.11
Cholesterol metabolism: the main pathway acting downstream of cytochrome P450 oxidoreductase in skeletal development of the limb. Mol Cell Biol (2009) 1.03
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Induction of an osteocyte-like phenotype by fibroblast growth factor-2. Biochem Biophys Res Commun (2010) 0.87
Eya1 is required for lineage-specific differentiation, but not for cell survival in the zebrafish adenohypophysis. Dev Biol (2006) 0.86
Regulation of neural crest cell fate by the retinoic acid and Pparg signalling pathways. Development (2010) 0.86
Retinoic acid enhances osteogenesis in cranial suture-derived mesenchymal cells: potential mechanisms of retinoid-induced craniosynostosis. Plast Reconstr Surg (2010) 0.85
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Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet (2010) 5.48
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation (2007) 4.37
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet (2006) 4.01
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet (2011) 3.97
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet (2002) 3.43
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet (2003) 3.23
The adaptor protein FADD protects epidermal keratinocytes from necroptosis in vivo and prevents skin inflammation. Immunity (2011) 3.10
Essential role of BCL9-2 in the switch between beta-catenin's adhesive and transcriptional functions. Genes Dev (2004) 2.99
Potential risks of bone marrow cell transplantation into infarcted hearts. Blood (2007) 2.97
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet (2004) 2.94
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology (2004) 2.90
In vivo protein trapping produces a functional expression codex of the vertebrate proteome. Nat Methods (2011) 2.85
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet (2012) 2.80
Retracted Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet (2003) 2.70
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2011) 2.69
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms. Cell Rep (2012) 2.67
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet (2012) 2.63
erbb3 and erbb2 are essential for schwann cell migration and myelination in zebrafish. Curr Biol (2005) 2.55
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet (2010) 2.52
Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease. Hum Mol Genet (2004) 2.47
CCR2 recruits an inflammatory macrophage subpopulation critical for angiogenesis in tissue repair. Blood (2012) 2.43
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet (2005) 2.40
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. Nat Genet (2010) 2.35
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet (2006) 2.31
Red blood cells express a functional endothelial nitric oxide synthase. Blood (2005) 2.30
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28
Epidermal progenitors give rise to Merkel cells during embryonic development and adult homeostasis. J Cell Biol (2009) 2.24
Engraftment of engineered ES cell-derived cardiomyocytes but not BM cells restores contractile function to the infarcted myocardium. J Exp Med (2006) 2.23
Integrin-linked kinase controls microtubule dynamics required for plasma membrane targeting of caveolae. Dev Cell (2010) 2.17
BMP and Wnt specify hematopoietic fate by activation of the Cdx-Hox pathway. Cell Stem Cell (2008) 2.17
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet (2011) 2.16
The Bmp gradient of the zebrafish gastrula guides migrating lateral cells by regulating cell-cell adhesion. Curr Biol (2007) 2.10
Deep sequencing to reveal new variants in pooled DNA samples. Hum Mutat (2009) 2.04
A crucial role of beta 1 integrins for keratinocyte migration in vitro and during cutaneous wound repair. Development (2002) 2.04
Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice. Hum Mol Genet (2007) 2.03
The ankyrin repeat protein Diversin recruits Casein kinase Iepsilon to the beta-catenin degradation complex and acts in both canonical Wnt and Wnt/JNK signaling. Genes Dev (2002) 2.02
FoxH1 negatively modulates flk1 gene expression and vascular formation in zebrafish. Dev Biol (2007) 2.02
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci U S A (2004) 2.01
Genome-wide association study reveals three susceptibility loci for common migraine in the general population. Nat Genet (2011) 1.98
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat (2004) 1.94
Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications. Eur J Hum Genet (2006) 1.93
Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A (2008) 1.91
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Obese, older adults with knee osteoarthritis: weight loss, exercise, and quality of life. Health Psychol (2002) 1.88
Crystal structure analysis reveals how the Chordin family member crossveinless 2 blocks BMP-2 receptor binding. Dev Cell (2008) 1.82
N-cadherin mediates retinal lamination, maintenance of forebrain compartments and patterning of retinal neurites. Development (2003) 1.79
Mutations in different components of FGF signaling in LADD syndrome. Nat Genet (2006) 1.76
TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. Am J Hum Genet (2008) 1.68
Zebrafish DeltaNp63 is a direct target of Bmp signaling and encodes a transcriptional repressor blocking neural specification in the ventral ectoderm. Dev Cell (2002) 1.68
Increased IgE-dependent mast cell activation and anaphylactic responses in mice lacking the calcium-activated nonselective cation channel TRPM4. Nat Immunol (2007) 1.68
Copeptin, a surrogate marker for vasopressin, is associated with kidney function decline in subjects with autosomal dominant polycystic kidney disease. Nephrol Dial Transplant (2012) 1.67
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet A (2004) 1.66
Bmp and Fgf signaling are essential for liver specification in zebrafish. Development (2007) 1.66
PLS3 mutations in X-linked osteoporosis with fractures. N Engl J Med (2013) 1.66
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet (2007) 1.64
Genome-wide association analysis identifies susceptibility loci for migraine without aura. Nat Genet (2012) 1.64
Integrin-linked kinase is required for epidermal and hair follicle morphogenesis. J Cell Biol (2007) 1.63
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet (2011) 1.62
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A (2015) 1.60
Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome. PLoS One (2006) 1.60
Zebrafish Bmp4 regulates left-right asymmetry at two distinct developmental time points. Dev Biol (2007) 1.58
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet (2012) 1.57
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet (2012) 1.57
Crossveinless 2 is an essential positive feedback regulator of Bmp signaling during zebrafish gastrulation. Development (2006) 1.57
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet (2002) 1.55
The multidomain protein Brpf1 binds histones and is required for Hox gene expression and segmental identity. Development (2008) 1.54
Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways. Hum Mol Genet (2009) 1.53
parachute/n-cadherin is required for morphogenesis and maintained integrity of the zebrafish neural tube. Development (2002) 1.53
Basic fibroblast growth factor controls migration in human mesenchymal stem cells. Stem Cells (2006) 1.52
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. Hum Mol Genet (2007) 1.52
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. Hum Genet (2010) 1.50
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. Am J Hum Genet (2010) 1.49
Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women. Am J Med Genet A (2004) 1.48
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features. Orphanet J Rare Dis (2014) 1.47
Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia. Pediatr Blood Cancer (2009) 1.46
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet (2008) 1.45
Comparison of contractile behavior of native murine ventricular tissue and cardiomyocytes derived from embryonic or induced pluripotent stem cells. FASEB J (2010) 1.45
Asymmetric expression of the BMP antagonists chordin and gremlin in the sea anemone Nematostella vectensis: implications for the evolution of axial patterning. Dev Biol (2006) 1.44
Characterization of key mechanisms in transmigration and invasion of mesenchymal stem cells. J Mol Cell Cardiol (2008) 1.44
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. Am J Hum Genet (2012) 1.43
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. Hum Genet (2005) 1.43
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Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One (2013) 1.40
Normal epidermal differentiation but impaired skin-barrier formation upon keratinocyte-restricted IKK1 ablation. Nat Cell Biol (2007) 1.40
In vitro secreting profile of human mesenchymal stem cells. Stem Cells Dev (2008) 1.40
Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet (2013) 1.39
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet (2012) 1.39
REREa/Atrophin-2 interacts with histone deacetylase and Fgf8 signaling to regulate multiple processes of zebrafish development. Dev Dyn (2007) 1.38
Control of Dpp morphogen signalling by a secreted feedback regulator. Nat Cell Biol (2010) 1.38