Published in Eur J Hum Genet on July 21, 2010
Functional and topological characteristics of mammalian regulatory domains. Genome Res (2014) 1.43
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet (2010) 1.06
Impact of copy number variations (CNVs) on long-range gene regulation at the HoxD locus. Proc Natl Acad Sci U S A (2012) 0.92
Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences. Hum Genet (2014) 0.91
Analysis of copy number variations in the sheep genome using 50K SNP BeadChip array. BMC Genomics (2013) 0.90
Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus. Eur J Hum Genet (2011) 0.77
Comparison of sequencing based CNV discovery methods using monozygotic twin quartets. PLoS One (2015) 0.75
A highly annotated whole-genome sequence of a Korean individual. Nature (2009) 6.91
A global control region defines a chromosomal regulatory landscape containing the HoxD cluster. Cell (2003) 4.85
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet (2006) 3.26
A dual role for Hox genes in limb anterior-posterior asymmetry. Science (2004) 2.67
The role of Hox genes during vertebrate limb development. Curr Opin Genet Dev (2007) 2.63
Control of Hoxd genes' collinearity during early limb development. Dev Cell (2006) 2.54
Hox10 and Hox11 genes are required to globally pattern the mammalian skeleton. Science (2003) 2.53
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet (2009) 2.09
Limb malformations and the human HOX genes. Am J Med Genet (2002) 1.83
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. J Med Genet (2008) 1.49
Multiple roles of Hoxa11 and Hoxd11 in the formation of the mammalian forelimb zeugopod. Development (2003) 1.34
Ulnaless (Ul), a regulatory mutation inducing both loss-of-function and gain-of-function of posterior Hoxd genes. Development (1997) 1.05
The mouse Ulnaless mutation deregulates posterior HoxD gene expression and alters appendicular patterning. Development (1997) 1.01
Two cases with interstitial deletions of chromosome 2 and sex reversal in one. Am J Med Genet (1999) 1.00
Function of the Evx-2 gene in the morphogenesis of vertebrate limbs. EMBO J (1996) 0.96
Breakpoints around the HOXD cluster result in various limb malformations. J Med Genet (2005) 0.95
A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects. Genomics (2002) 0.92
Kantaputra mesomelic dysplasia: a second reported family. Am J Med Genet A (2004) 0.82
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32. J Hum Genet (1998) 0.82
Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation. Am J Med Genet A (2004) 0.79
Thirteen-year-follow up report on mesomelic dysplasia, Kantaputra type (MDK), and comments on the paper of the second reported family of MDK by Shears et al. Am J Med Genet A (2004) 0.79
Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: a new autosomal dominant bone disorder. Am J Med Genet (1992) 0.78
[Phenotype anomalies in subjects with balanced chromosome translocation. Presentation of 4 cases]. Pathologica (1983) 0.78
Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia. J Med Genet (2002) 0.78
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Am J Hum Genet (2008) 8.78
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol (2011) 4.84
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway. Genes Cells (2003) 4.11
Chromosome instability is common in human cleavage-stage embryos. Nat Med (2009) 3.85
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet (2006) 3.26
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet (2003) 3.23
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Hum Genet (2009) 3.01
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
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization. J Clin Invest (2009) 2.18
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet (2008) 2.16
Plant nitric oxide synthase: a never-ending story? Trends Plant Sci (2006) 2.12
Role of Runx genes in chondrocyte differentiation. Dev Biol (2002) 2.12
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet (2009) 2.09
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat (2008) 2.03
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome. Am J Med Genet A (2014) 2.02
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet (2005) 1.98
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Whole-genome multiple displacement amplification from single cells. Nat Protoc (2006) 1.88
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest (2005) 1.88
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. Am J Hum Genet (2013) 1.87
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet (2006) 1.84
Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance. J Am Coll Cardiol (2011) 1.82
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat (2002) 1.81
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet (2006) 1.79
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nat Genet (2009) 1.75
A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet (2009) 1.71
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet (2013) 1.70
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest (2005) 1.68
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet (2012) 1.65
The other trinucleotide repeat: polyalanine expansion disorders. Curr Opin Genet Dev (2005) 1.62
A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. Blood (2013) 1.61
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Hum Mutat (2010) 1.59
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain (2014) 1.55
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proc Natl Acad Sci U S A (2003) 1.52
Genetic disorders of the skeleton: a developmental approach. Am J Hum Genet (2003) 1.52
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet (2011) 1.50
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat (2010) 1.47
Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity. Hum Mutat (2012) 1.46
Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders. Hum Mol Genet (2009) 1.45
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet (2004) 1.45
Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome. Am J Med Genet A (2004) 1.45
Comprehensive expression analysis of all Wnt genes and their major secreted antagonists during mouse limb development and cartilage differentiation. Gene Expr Patterns (2009) 1.43
Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation. Am J Med Genet A (2004) 1.43
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci U S A (2004) 1.42
MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites. PLoS One (2011) 1.41
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet (2008) 1.40
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet (2009) 1.40
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. J Exp Med (2013) 1.39
Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet (2013) 1.39
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
Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta. Circ Cardiovasc Genet (2015) 1.38
Deletions of chromosome 8p and loss of sFRP1 expression are progression markers of papillary bladder cancer. Lab Invest (2004) 1.35
Deletion and point mutations of PTHLH cause brachydactyly type E. Am J Hum Genet (2010) 1.35
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet (2008) 1.34
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. Am J Med Genet A (2008) 1.32
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol (2013) 1.31
Redundant function of the heparan sulfate 6-O-endosulfatases Sulf1 and Sulf2 during skeletal development. Dev Dyn (2008) 1.30
Multiple roles for neurofibromin in skeletal development and growth. Hum Mol Genet (2007) 1.29
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. J Clin Invest (2005) 1.29
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum Mol Genet (2004) 1.29
Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet (2012) 1.28
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. Hum Mutat (2009) 1.28
CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet (2009) 1.27
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. Am J Med Genet A (2006) 1.25
C5orf42 is the major gene responsible for OFD syndrome type VI. Hum Genet (2013) 1.24
A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. Mov Disord (2014) 1.22
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. Eur J Pediatr (2007) 1.22
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. Eur J Med Genet (2010) 1.21
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am J Med Genet A (2012) 1.21
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet (2011) 1.20
Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment. Circulation (2006) 1.20
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Am J Med Genet A (2006) 1.20
The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process. Nucleic Acids Res (2011) 1.18
Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. Dev Dyn (2004) 1.18
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain (2009) 1.18
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. Am J Hum Genet (2013) 1.17
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A (2015) 1.17
Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy. Epilepsy Res (2002) 1.17
Non-USH2A mutations in USH2 patients. Hum Mutat (2012) 1.17
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. Am J Med Genet A (2004) 1.16
Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. J Biol Chem (2012) 1.16
Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis. Hum Mol Genet (2004) 1.16
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet (2012) 1.15
Negative enrichment by immunomagnetic nanobeads for unbiased characterization of circulating tumor cells from peripheral blood of cancer patients. J Transl Med (2011) 1.15
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. Eur J Hum Genet (2003) 1.14
Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing. BMC Genomics (2011) 1.13
RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome. Hum Genet (2004) 1.12
Expression of Runx2 transcription factor in non-skeletal tissues, sperm and brain. J Cell Physiol (2008) 1.11