Published in Genet Med on September 01, 2005
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Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet (2005) 4.76
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Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med (2014) 4.00
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Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
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Chk2-deficient mice exhibit radioresistance and defective p53-mediated transcription. EMBO J (2002) 3.45
Microbial DNA typing by automated repetitive-sequence-based PCR. J Clin Microbiol (2005) 3.44
Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med (2005) 3.39
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Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet (2007) 3.26
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Genetic analysis of the mammalian transforming growth factor-beta superfamily. Endocr Rev (2002) 3.06
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Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. Nature (2005) 2.98
Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet (2002) 2.96
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Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet (2002) 2.91
Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol (2009) 2.89
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet (2004) 2.84
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet (2004) 2.82
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med (2006) 2.78
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain (2006) 2.77
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet (2012) 2.75
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Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet (2002) 2.64
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Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet (2009) 2.50
Increased LIS1 expression affects human and mouse brain development. Nat Genet (2009) 2.45
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet (2003) 2.37
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. Ann Neurol (2006) 2.25
Genome structural variation and sporadic disease traits. Nat Genet (2006) 2.23
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol (2009) 2.07
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet (2003) 2.04
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Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med (2007) 1.98
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet (2010) 1.96
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De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat (2003) 1.89
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am J Hum Genet (2002) 1.88
Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet (2005) 1.87
A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination. Am J Hum Genet (2006) 1.86
Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. Am J Hum Genet (2002) 1.86
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A (2007) 1.85
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet (2007) 1.85
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature (2006) 1.81
Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am J Hum Genet (2003) 1.81
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet (2006) 1.79
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med (2008) 1.78
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn (2009) 1.78
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. Proc Natl Acad Sci U S A (2008) 1.78
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Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet (2009) 1.72
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet (2013) 1.71
Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. Genome Res (2002) 1.70
Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23. Am J Med Genet A (2006) 1.70
The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats. Am J Hum Genet (2003) 1.70
Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain (2003) 1.68
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet (2010) 1.65
Molecular basis of neonatal diabetes in Japanese patients. J Clin Endocrinol Metab (2007) 1.65
Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms. Hum Genet (2004) 1.64
Successful treatment of primary cardiac lymphoma by rituximab-CHOP and high-dose chemotherapy with autologous peripheral blood stem cell transplantation. Int J Hematol (2007) 1.63
Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med (2003) 1.59
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Hum Genet (2004) 1.57
Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1). Nucleic Acids Res (2005) 1.56
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Ann Neurol (2006) 1.56
SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat (2002) 1.54
Replicative mechanisms for CNV formation are error prone. Nat Genet (2013) 1.54
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Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am J Hum Genet (2010) 1.49
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies. J Hum Genet (2010) 1.49
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