Published in Am J Med Genet A on March 01, 2005
Neocentromeres: new insights into centromere structure, disease development, and karyotype evolution. Am J Hum Genet (2008) 2.88
The novel synaptogenic protein Farp1 links postsynaptic cytoskeletal dynamics and transsynaptic organization. J Cell Biol (2012) 1.05
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. J Med Genet (2007) 1.01
Neocentric X-chromosome in a girl with Turner-like syndrome. Mol Cytogenet (2012) 0.84
Activity-dependent regulation of dendritic complexity by semaphorin 3A through Farp1. J Neurosci (2014) 0.80
Sox21 deletion in mice causes postnatal growth deficiency without physiological disruption of hypothalamic-pituitary endocrine axes. Mol Cell Endocrinol (2016) 0.75
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet (2004) 4.09
Osteopetrosis. Orphanet J Rare Dis (2009) 3.69
ATRX interacts with H3.3 in maintaining telomere structural integrity in pluripotent embryonic stem cells. Genome Res (2010) 3.46
Preimplantation aneuploidy screening using comparative genomic hybridization or fluorescence in situ hybridization of embryos from patients with recurrent implantation failure. Fertil Steril (2003) 3.00
Neocentromeres: new insights into centromere structure, disease development, and karyotype evolution. Am J Hum Genet (2008) 2.88
High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs. Am J Hum Genet (2005) 2.39
Neocentromeres: role in human disease, evolution, and centromere study. Am J Hum Genet (2002) 2.30
Building the centromere: from foundation proteins to 3D organization. Trends Cell Biol (2004) 2.15
Histone H3.3 incorporation provides a unique and functionally essential telomeric chromatin in embryonic stem cells. Genome Res (2009) 2.08
Centromere RNA is a key component for the assembly of nucleoproteins at the nucleolus and centromere. Genome Res (2007) 2.03
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Human centromere repositioning "in progress". Proc Natl Acad Sci U S A (2004) 1.88
Transcription within a functional human centromere. Mol Cell (2003) 1.77
LINE retrotransposon RNA is an essential structural and functional epigenetic component of a core neocentromeric chromatin. PLoS Genet (2009) 1.73
Clinical phenotypes associated with type II collagen mutations. J Paediatr Child Health (2011) 1.70
Retracted Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial. JAMA (2007) 1.69
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet (2011) 1.66
Premature arthritis is a distinct type II collagen phenotype. Arthritis Rheum (2010) 1.66
Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage. Hum Mol Genet (2003) 1.59
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet (2010) 1.53
Active transcription and essential role of RNA polymerase II at the centromere during mitosis. Proc Natl Acad Sci U S A (2012) 1.50
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. Hum Mutat (2005) 1.46
Functional performance in young Australian children with achondroplasia. Dev Med Child Neurol (2011) 1.41
Development in children with achondroplasia: a prospective clinical cohort study. Dev Med Child Neurol (2012) 1.40
Contrasting roles of condensin I and condensin II in mitotic chromosome formation. J Cell Sci (2012) 1.35
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet (2011) 1.34
Evolutionary dynamics of transposable elements at the centromere. Trends Genet (2004) 1.33
Centromere proteins Cenpa, Cenpb, and Bub3 interact with poly(ADP-ribose) polymerase-1 protein and are poly(ADP-ribosyl)ated. J Biol Chem (2002) 1.27
Permissive transcriptional activity at the centromere through pockets of DNA hypomethylation. PLoS Genet (2006) 1.26
Increased chromosome instability but not cancer predisposition in haploinsufficient Bub3 mice. Genes Chromosomes Cancer (2005) 1.25
Analysis of mammalian proteins involved in chromatin modification reveals new metaphase centromeric proteins and distinct chromosomal distribution patterns. Hum Mol Genet (2003) 1.25
Variable and hierarchical size distribution of L1-retroelement-enriched CENP-A clusters within a functional human neocentromere. Hum Mol Genet (2004) 1.24
The mutational spectrum of brachydactyly type C. Am J Med Genet (2002) 1.22
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. Am J Hum Genet (2009) 1.21
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. Hum Mutat (2004) 1.21
Three-dimensional localization of CENP-A suggests a complex higher order structure of centromeric chromatin. J Cell Biol (2008) 1.20
International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A (2014) 1.19
Poly(ADP-ribose) polymerase 2 localizes to mammalian active centromeres and interacts with PARP-1, Cenpa, Cenpb and Bub3, but not Cenpc. Hum Mol Genet (2002) 1.17
Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation. Clin Orthop Relat Res (2011) 1.12
Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN. Mamm Genome (2007) 1.11
Chromosome size and origin as determinants of the level of CENP-A incorporation into human centromeres. Chromosome Res (2004) 1.09
Mutations in TRPV4 cause an inherited arthropathy of hands and feet. Nat Genet (2011) 1.07
Rapid evolution of mouse Y centromere repeat DNA belies recent sequence stability. Genome Res (2009) 1.04
Analysis of mitotic and expression properties of human neocentromere-based transchromosomes in mice. J Biol Chem (2004) 1.04
Chromatin-binding regions of EBNA1 protein facilitate the enhanced transfection of Epstein-Barr virus-based vectors. Hum Gene Ther (2006) 1.01
A nanoparticle dispersion method for in vitro and in vivo nanotoxicity study. Nanotoxicology (2010) 1.00
Heritability of central corneal thickness in nuclear families. Invest Ophthalmol Vis Sci (2009) 1.00
Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice. Mamm Genome (2004) 0.99
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. Hum Mutat (2011) 0.99
Centric fission--simple and complex mechanisms. Chromosome Res (2004) 0.98
The evolutionary life cycle of the resilient centromere. Chromosoma (2012) 0.98
Partially functional Cenpa-GFP fusion protein causes increased chromosome missegregation and apoptosis during mouse embryogenesis. Chromosome Res (2003) 0.98
Osteopathia striata with cranial sclerosis owing to WTX gene defect. J Bone Miner Res (2010) 0.98
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. Am J Med Genet A (2003) 0.98
A humanized BAC transgenic/knockout mouse model for HbE/beta-thalassemia. Genomics (2006) 0.97
Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes. Hum Genet (2009) 0.97
Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. Am J Med Genet A (2007) 0.97
TRPV4-associated skeletal dysplasias. Am J Med Genet C Semin Med Genet (2012) 0.96
Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (2005) 0.96
Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method. Hum Mutat (2004) 0.96
The natural history and osteodystrophy of mucolipidosis types II and III. J Paediatr Child Health (2010) 0.95
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. Hum Mutat (2006) 0.95
BAC-based PCR fragment microarray: high-resolution detection of chromosomal deletion and duplication breakpoints. Hum Mutat (2005) 0.94
Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis. Arthritis Rheum (2009) 0.94
Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7. Am J Med Genet A (2010) 0.92
Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay. Hum Mutat (2005) 0.92
Spef1, a conserved novel testis protein found in mouse sperm flagella. Gene (2005) 0.91
Are Duane syndrome and infantile esotropia allelic? Ophthalmic Genet (2004) 0.90
Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome. Am J Med Genet A (2009) 0.90
In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation. Hum Mutat (2009) 0.90
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. Am J Med Genet A (2003) 0.89
Humanized beta-thalassemia mouse model containing the common IVSI-110 splicing mutation. J Biol Chem (2006) 0.88
Neuropsychological diversity in Apert syndrome: a comparison of cognitive profiles. Ann Plast Surg (2005) 0.88
Mouse telocentric sequences reveal a high rate of homogenization and possible role in Robertsonian translocation. Proc Natl Acad Sci U S A (2006) 0.88
A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome. Am J Med Genet A (2005) 0.88
A humanized mouse model for a common beta0-thalassemia mutation. Genomics (2005) 0.87
Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review. Am J Med Genet A (2006) 0.87
An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings. Am J Med Genet A (2007) 0.86
Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms. Am J Med Genet A (2009) 0.86
Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome. PLoS Genet (2013) 0.86
Strategies for engineering human chromosomes with therapeutic potential. J Gene Med (2002) 0.86
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. Eur J Hum Genet (2011) 0.86
Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti. Am J Med Genet A (2005) 0.85
Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter. Ophthalmic Genet (2005) 0.85
WTX mutations can occur both early and late in the pathogenesis of Wilms tumour. J Med Genet (2010) 0.85
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Orphanet J Rare Dis (2011) 0.85
Retracted A role for plasma transforming growth factor-beta and matrix metalloproteinases in aortic aneurysm surveillance in Marfan syndrome? Atherosclerosis (2009) 0.85
Intellectual outcomes in children and adolescents with syndromic and nonsyndromic craniosynostosis. Plast Reconstr Surg (2006) 0.85
Transgene copy number-dependent rescue of murine beta-globin knockout mice carrying a 183 kb human beta-globin BAC genomic fragment. Biochim Biophys Acta (2005) 0.84
Evaluation of an FRDA-EGFP genomic reporter assay in transgenic mice. Mamm Genome (2005) 0.84
A rapid method of genomic array analysis of scaffold/matrix attachment regions (S/MARs) identifies a 2.5-Mb region of enhanced scaffold/matrix attachment at a human neocentromere. Genome Res (2003) 0.83
Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia. PLoS One (2013) 0.83
Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disorders. BMC Clin Pathol (2009) 0.83
Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years. J Paediatr Child Health (2011) 0.82
Normal DNA methylation dynamics in DICER1-deficient mouse embryonic stem cells. PLoS Genet (2012) 0.82
Experiences at the time of diagnosis of parents who have a child with a bone dysplasia resulting in short stature. Am J Med Genet A (2003) 0.82
Expanding the cleft phenotype: the dental characteristics of unaffected parents of Australian children with non-syndromic cleft lip and palate. Int J Paediatr Dent (2013) 0.82