Published in Am J Med Genet A on February 06, 2014
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
Cohesin mediates transcriptional insulation by CCCTC-binding factor. Nature (2008) 12.01
A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med (2011) 8.26
Cohesins functionally associate with CTCF on mammalian chromosome arms. Cell (2008) 7.80
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
S-phase checkpoint proteins Tof1 and Mrc1 form a stable replication-pausing complex. Nature (2003) 6.43
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line. Nat Genet (2009) 6.02
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet (2004) 5.19
Cohesin relocation from sites of chromosomal loading to places of convergent transcription. Nature (2004) 5.00
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell (2010) 4.37
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet (2007) 4.20
Genome-wide mapping of the cohesin complex in the yeast Saccharomyces cerevisiae. PLoS Biol (2004) 4.03
Postreplicative recruitment of cohesin to double-strand breaks is required for DNA repair. Mol Cell (2004) 3.83
Protein phosphatase 2A protects centromeric sister chromatid cohesion during meiosis I. Nature (2006) 3.81
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet (2010) 3.64
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet (2006) 3.55
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature (2012) 3.08
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). PLoS Genet (2009) 2.90
Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol (2009) 2.89
Identification of cis-acting sites for condensin loading onto budding yeast chromosomes. Genes Dev (2008) 2.87
Scm3 is essential to recruit the histone h3 variant cse4 to centromeres and to maintain a functional kinetochore. Mol Cell (2007) 2.82
Postreplicative formation of cohesion is required for repair and induced by a single DNA break. Science (2007) 2.82
Drosophila nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene. Mol Cell Biol (2004) 2.79
Correlation between retinal abnormalities and intracranial abnormalities in the shaken baby syndrome. Am J Ophthalmol (2002) 2.75
Association of cohesin and Nipped-B with transcriptionally active regions of the Drosophila melanogaster genome. Chromosoma (2007) 2.73
Monopolar attachment of sister kinetochores at meiosis I requires casein kinase 1. Cell (2006) 2.70
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet (2004) 2.67
The replication checkpoint protects fork stability by releasing transcribed genes from nuclear pores. Cell (2011) 2.65
Independent and sequential recruitment of NHEJ and HR factors to DNA damage sites in mammalian cells. J Cell Biol (2005) 2.64
Mrc1 and DNA polymerase epsilon function together in linking DNA replication and the S phase checkpoint. Mol Cell (2008) 2.63
Cell lineages and the logic of proliferative control. PLoS Biol (2009) 2.62
Evidence that loading of cohesin onto chromosomes involves opening of its SMC hinge. Cell (2006) 2.58
Architectural roles of multiple chromatin insulators at the human apolipoprotein gene cluster. EMBO J (2009) 2.56
A chromatin remodelling complex that loads cohesin onto human chromosomes. Nature (2002) 2.53
Origin association of Sld3, Sld7, and Cdc45 proteins is a key step for determination of origin-firing timing. Curr Biol (2011) 2.47
Autoregulation of neurogenesis by GDF11. Neuron (2003) 2.40
Establishment of sister chromatid cohesion at the S. cerevisiae replication fork. Mol Cell (2006) 2.39
Genome-wide localization of pre-RC sites and identification of replication origins in fission yeast. EMBO J (2007) 2.29
Cse4 is part of an octameric nucleosome in budding yeast. Mol Cell (2009) 2.23
An Smc3 acetylation cycle is essential for establishment of sister chromatid cohesion. Mol Cell (2010) 2.23
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet (2003) 2.23
Guidelines for postmortem protocol for ocular investigation of sudden unexplained infant death and suspected physical child abuse. Am J Forensic Med Pathol (2007) 2.20
The cyclic gene Hes1 contributes to diverse differentiation responses of embryonic stem cells. Genes Dev (2009) 2.19
A wave of nascent transcription on activated human genes. Proc Natl Acad Sci U S A (2009) 2.18
Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation (2004) 2.17
The challenges to ophthalmologic follow-up care in at-risk pediatric populations. J AAPOS (2013) 2.17
Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. PLoS Genet (2009) 2.14
Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms. Nat Genet (2013) 2.14
Specific recruitment of human cohesin to laser-induced DNA damage. J Biol Chem (2002) 2.13
Chromosomal association of the Smc5/6 complex reveals that it functions in differently regulated pathways. Mol Cell (2006) 2.13
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet (2002) 2.13
Sororin mediates sister chromatid cohesion by antagonizing Wapl. Cell (2010) 2.12
Mutations in the chromatin-associated protein ATRX. Hum Mutat (2008) 2.12
Budding yeast Wpl1(Rad61)-Pds5 complex counteracts sister chromatid cohesion-establishing reaction. Curr Biol (2009) 2.08
Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance. PLoS Biol (2006) 2.08
Interpretation of association signals and identification of causal variants from genome-wide association studies. Am J Hum Genet (2010) 2.06
Germline mosaicism in Cornelia de Lange syndrome. Am J Med Genet A (2012) 2.05
GDF11 controls the timing of progenitor cell competence in developing retina. Science (2005) 2.04
Cell-cycle-coupled structural oscillation of centromeric nucleosomes in yeast. Cell (2012) 2.02
Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A (2007) 2.01
PRDM14 ensures naive pluripotency through dual regulation of signaling and epigenetic pathways in mouse embryonic stem cells. Cell Stem Cell (2013) 1.96
The annealing helicase HARP is recruited to DNA repair sites via an interaction with RPA. Genes Dev (2009) 1.96
Chromosome length influences replication-induced topological stress. Nature (2011) 1.95
Reciprocal association of the budding yeast ATM-related proteins Tel1 and Mec1 with telomeres in vivo. Mol Cell (2004) 1.91
A direct role for cohesin in gene regulation and ecdysone response in Drosophila salivary glands. Curr Biol (2010) 1.86
Comparative analysis of different laser systems to study cellular responses to DNA damage in mammalian cells. Nucleic Acids Res (2009) 1.83
Identification and molecular regulation of neural stem cells in the olfactory epithelium. Exp Cell Res (2005) 1.82
Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med (2014) 1.81
Spo11-accessory proteins link double-strand break sites to the chromosome axis in early meiotic recombination. Cell (2011) 1.79
The kinetochore is an enhancer of pericentric cohesin binding. PLoS Biol (2004) 1.79
Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome. PLoS Biol (2011) 1.77
Top1- and Top2-mediated topological transitions at replication forks ensure fork progression and stability and prevent DNA damage checkpoint activation. Genes Dev (2007) 1.75
Replication termination at eukaryotic chromosomes is mediated by Top2 and occurs at genomic loci containing pausing elements. Mol Cell (2010) 1.74
Retinal hemorrhages in type I osteogenesis imperfecta after minor trauma. Ophthalmology (2004) 1.73
Facial features in Alagille syndrome: specific or cholestasis facies? Am J Med Genet (2002) 1.73
RAD21 mutations cause a human cohesinopathy. Am J Hum Genet (2012) 1.72
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70
Eco1 is important for DNA damage repair in S. cerevisiae. Cell Cycle (2010) 1.69
Cohesin and human disease. Annu Rev Genomics Hum Genet (2008) 1.68
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet (2002) 1.67
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet (2009) 1.66
Retinal findings in children with intracranial hemorrhage. Ophthalmology (2002) 1.65
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet (2012) 1.64
Psh1 is an E3 ubiquitin ligase that targets the centromeric histone variant Cse4. Mol Cell (2010) 1.62
The alternative Ctf18-Dcc1-Ctf8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA. Proc Natl Acad Sci U S A (2003) 1.62
Fgf8 expression defines a morphogenetic center required for olfactory neurogenesis and nasal cavity development in the mouse. Development (2005) 1.62
Receptor for activated C kinase 1 stimulates nascent polypeptide-dependent translation arrest. EMBO Rep (2010) 1.59
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet (2008) 1.58
Regulation of the Drosophila Enhancer of split and invected-engrailed gene complexes by sister chromatid cohesion proteins. PLoS One (2009) 1.58
Evaluating the quality of care provided by graduates of international medical schools. Health Aff (Millwood) (2010) 1.58
Rif1 is a global regulator of timing of replication origin firing in fission yeast. Genes Dev (2012) 1.57