Published in Nat Genet on December 01, 1992
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet (2005) 7.60
Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet (1999) 3.46
PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans. Nat Genet (2010) 3.33
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
High-resolution patterns of meiotic recombination across the human major histocompatibility complex. Am J Hum Genet (2002) 2.71
Mechanisms for recurrent and complex human genomic rearrangements. Curr Opin Genet Dev (2012) 2.67
Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet (2003) 2.59
Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet (1998) 2.09
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am J Hum Genet (1993) 1.97
Analysis of segmental duplications and genome assembly in the mouse. Genome Res (2004) 1.89
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
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
Genomic disorders ten years on. Genome Med (2009) 1.81
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet (1995) 1.78
Serial segmental duplications during primate evolution result in complex human genome architecture. Genome Res (2004) 1.78
Genome destabilization by homologous recombination in the germ line. Nat Rev Mol Cell Biol (2010) 1.76
Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. Am J Hum Genet (2000) 1.73
The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res (2001) 1.72
Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. Genome Res (2002) 1.70
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
Palindromic gene amplification--an evolutionarily conserved role for DNA inverted repeats in the genome. Nat Rev Cancer (2009) 1.62
An 85-kb tandem triplication in the slow Wallerian degeneration (Wlds) mouse. Proc Natl Acad Sci U S A (1998) 1.61
Detection of tandem duplications and implications for linkage analysis. Am J Hum Genet (1994) 1.60
Processes of copy-number change in human DNA: the dynamics of {alpha}-globin gene deletion. Proc Natl Acad Sci U S A (2006) 1.57
The PMP22 gene and its related diseases. Mol Neurobiol (2012) 1.53
High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. Am J Hum Genet (2004) 1.47
Chromosomal duplications in bacteria, fruit flies, and humans. Am J Hum Genet (1996) 1.45
The mechanisms involved in formation of deletions and duplications of 15q11-q13. J Med Genet (1998) 1.33
Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease. Am J Hum Genet (1996) 1.32
2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture. Am J Hum Genet (2003) 1.31
DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome. Am J Hum Genet (1999) 1.28
Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. J Med Genet (2000) 1.26
The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2. Am J Hum Genet (1995) 1.26
Processes of de novo duplication of human alpha-globin genes. Proc Natl Acad Sci U S A (2007) 1.26
Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders. J Med Genet (2004) 1.25
Charcot-Marie-Tooth disease: lessons in genetic mechanisms. Mol Med (1998) 1.22
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies. Hum Genet (2007) 1.22
Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin. Am J Hum Genet (1996) 1.21
Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH. Am J Hum Genet (1998) 1.14
Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution. Proc Natl Acad Sci U S A (2010) 1.11
A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation. Hum Mol Genet (2008) 1.09
Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome. Am J Hum Genet (1997) 1.07
Regional genomic instability predisposes to complex dystrophin gene rearrangements. Hum Genet (2009) 1.06
Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. Am J Hum Genet (2014) 1.04
Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent. J Med Genet (1997) 1.02
Molecular anatomy and genetics of myelin proteins in the peripheral nervous system. J Anat (1995) 1.02
A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. Am J Hum Genet (1995) 1.01
Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease. Eur J Hum Genet (2009) 1.00
Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen (2015) 1.00
Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A. J Anat (2002) 1.00
Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. Am J Hum Genet (2001) 0.99
Gene conversion homogenizes the CMT1A paralogous repeats. BMC Genomics (2001) 0.99
Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease. J Neurol (2009) 0.97
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet (2015) 0.94
Homologous Recombination and Its Role in Carcinogenesis. J Biomed Biotechnol (2002) 0.91
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene. Eur J Hum Genet (2011) 0.91
Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. Am J Hum Genet (2012) 0.90
Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement. Neurogenetics (2010) 0.87
Multiple cellular mechanisms prevent chromosomal rearrangements involving repetitive DNA. Crit Rev Biochem Mol Biol (2012) 0.86
Genomic medicine and neurological disease. Hum Genet (2011) 0.85
Disorders of the genome architecture: a review. Genomic Med (2009) 0.83
Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients. J Med Genet (1994) 0.82
Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations. J Med Genet (1998) 0.81
Inheritance of CMT1A duplication from a mosaic father. J Med Genet (1995) 0.81
Localization of mariner DNA transposons in the human genome by PRINS. Genome Res (1999) 0.80
Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): a useful tool for diagnosis. J Med Genet (1995) 0.80
Concerted evolution of members of the multisequence family chAB4 located on various nonhomologous chromosomes. Mamm Genome (1998) 0.80
Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations. Hum Genet (2006) 0.79
Allele loss on chromosomes 10 and 17p and epidermal growth factor receptor gene amplification in human malignant astrocytoma related to prognosis. Br J Cancer (1994) 0.79
Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome. PLoS One (2010) 0.78
Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies. Yonsei Med J (2005) 0.77
Myelin gene dosage and mutation in the hereditary motor and sensory neuropathies: a review. J Neurol Neurosurg Psychiatry (1995) 0.77
A comparison of methods for gene dosage analysis in HMSN type 1. J Med Genet (2001) 0.77
Partitioned pulsed-field gel electrophoresis-PCR (PPF-PCR): a new method for pulsed-field mapping for STS and microsatellites. Nucleic Acids Res (1994) 0.75
Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment. J Med Genet (1998) 0.75
Functional characterization of the human mariner transposon Hsmar2. PLoS One (2013) 0.75
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Hum Genet (2016) 0.75
2002 Curt Stern Award address. Introductory speech for James R. Lupski. Am J Hum Genet (2003) 0.75
PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E. Ann Clin Transl Neurol (2017) 0.75
Major influence of repetitive elements on disease-associated copy number variants (CNVs). Hum Genomics (2016) 0.75
Mapping candidate hotspots of meiotic recombination in segments of human DNA cloned in the yeast Saccharomyces cerevisiae. Mol Genet Genomics (2003) 0.75
A novel possible mechanism for the genesis of genomic duplications and its experimental test. J Mol Evol (2005) 0.75
Distribution of repetitive DNA sequences in eubacteria and application to fingerprinting of bacterial genomes. Nucleic Acids Res (1991) 19.89
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science (1996) 11.59
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet (1997) 10.93
DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell (1991) 7.93
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science (1997) 6.00
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science (2001) 5.22
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet (1997) 4.15
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet (2000) 3.80
Comparative sequence analysis of a gene-rich cluster at human chromosome 12p13 and its syntenic region in mouse chromosome 6. Genome Res (1998) 3.80
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet (1994) 3.67
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet (1996) 3.45
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2) Am J Med Genet (1996) 3.17
Penicillin-resistant Streptococcus pneumoniae strains recovered in Houston: identification and molecular characterization of multiple clones. J Infect Dis (1993) 3.03
Hypoxanthine-guanine phosphoribosyltransferase genes of mouse and Chinese hamster: construction and sequence analysis of cDNA recombinants. Nucleic Acids Res (1982) 3.00
Overlap hybridization screening: isolation and characterization of overlapping DNA fragments surrounding the leu2 gene on yeast chromosome III. Gene (1979) 2.97
Organization of the HPRT gene and related sequences in the human genome. Somat Cell Mol Genet (1984) 2.84
Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet (2000) 2.82
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J Hum Genet (1990) 2.77
Sequence variation in dispersed repetitive sequences in Saccharomyces cerevisiae. J Mol Biol (1981) 2.76
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum Mutat (2003) 2.75
Mapping of genes predisposing to idiopathic generalized epilepsy. Hum Mol Genet (1995) 2.65
Cloned cDNA sequences of the hypoxanthine/guanine phosphoribosyltransferase gene from a mouse neuroblastoma cell line found to have amplified genomic sequences. Proc Natl Acad Sci U S A (1982) 2.62
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet (2000) 2.53
Differential methylation of hypoxanthine phosphoribosyltransferase genes on active and inactive human X chromosomes. Proc Natl Acad Sci U S A (1984) 2.52
Whole-cell repetitive element sequence-based polymerase chain reaction allows rapid assessment of clonal relationships of bacterial isolates. J Clin Microbiol (1993) 2.42
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am J Hum Genet (1999) 2.42
Analysis of relationships among isolates of Citrobacter diversus by using DNA fingerprints generated by repetitive sequence-based primers in the polymerase chain reaction. J Clin Microbiol (1992) 2.41
The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am J Hum Genet (1998) 2.39
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum Mol Genet (1992) 2.35
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet (1991) 2.26
Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Nat Genet (1994) 2.26
In vitro and in vivo manipulations of bacteriophage Mu DNA: cloning of Mu ends and construction of mini-Mu's carrying selectable markers. Gene (1981) 2.21
Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med (1993) 2.19
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet (1998) 2.17
Mutation of PAX9 is associated with oligodontia. Nat Genet (2000) 2.13
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet (2009) 2.13
Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet (1998) 2.09
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet (1992) 2.08
Fine structure of the human hypoxanthine phosphoribosyltransferase gene. Mol Cell Biol (1986) 2.07
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients. Nature (1984) 2.07
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am J Hum Genet (1998) 2.01
Sequences of the Escherichia coli dnaG primase gene and regulation of its expression. Proc Natl Acad Sci U S A (1982) 1.98
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am J Hum Genet (1993) 1.97
Molecular genotyping of methicillin-resistant Staphylococcus aureus via fluorophore-enhanced repetitive-sequence PCR. J Clin Microbiol (1995) 1.92
Differential subsequence conservation of interspersed repetitive Streptococcus pneumoniae BOX elements in diverse bacteria. Genome Res (1995) 1.92
Promotion, termination, and anti-termination in the rpsU-dnaG-rpoD macromolecular synthesis operon of E. coli K-12. Mol Gen Genet (1984) 1.84
Molecular epidemiology of infections due to Enterobacter aerogenes: identification of hospital outbreak-associated strains by molecular techniques. Clin Infect Dis (1995) 1.76
Molecular fingerprinting of Legionella species by repetitive element PCR. J Clin Microbiol (1994) 1.75
The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res (2001) 1.72
Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nat Genet (1993) 1.72
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet (2000) 1.70
Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17. Neurology (1993) 1.69
Cloning and nucleotide sequence of a chromosomally encoded tetracycline resistance determinant, tetA(M), from a pathogenic, methicillin-resistant strain of Staphylococcus aureus. Antimicrob Agents Chemother (1990) 1.67
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat Genet (1992) 1.66
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet (2001) 1.66
Using population mixtures to optimize the utility of genomic databases: linkage disequilibrium and association study design in India. Ann Hum Genet (2007) 1.65
The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP. Genome Res (2001) 1.64
Characterization of transferable plasmids from Shigella flexneri 2a that confer resistance to trimethoprim, streptomycin, and sulfonamides. Plasmid (1986) 1.63
The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. Vision Res (1999) 1.61
Detection of tandem duplications and implications for linkage analysis. Am J Hum Genet (1994) 1.60
Cell cycle arrest in Era GTPase mutants: a potential growth rate-regulated checkpoint in Escherichia coli. Mol Microbiol (1998) 1.59
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron (1996) 1.58
Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation. Arch Dis Child (2009) 1.57
Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease. Muscle Nerve (2000) 1.57
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet (1996) 1.56
Exploring the molecular basis of Bardet-Biedl syndrome. Hum Mol Genet (2001) 1.54
Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. Ann Neurol (1999) 1.54
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Am J Hum Genet (1992) 1.52
Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. Hum Mol Genet (2001) 1.52
Ophthalmic manifestations of Smith-Magenis syndrome. Ophthalmology (1996) 1.47
Cluster analysis of Helicobacter pylori genomic DNA fingerprints suggests gastroduodenal disease-specific associations. Scand J Gastroenterol (1995) 1.46
Use of the polymerase chain reaction for physical mapping of Escherichia coli genes. J Bacteriol (1991) 1.45
Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations. Ann Neurol (1999) 1.45
Regulation of the rpsU-dnaG-rpoD macromolecular synthesis operon and the initiation of DNA replication in Escherichia coli K-12. Mol Gen Genet (1983) 1.44
Rapid identification of yeast artificial chromosome clones by matrix pooling and crude lysate PCR. Nucleic Acids Res (1990) 1.41
Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am J Med Genet (1997) 1.41
Subcutaneous tocolytic infusion therapy for patients at very high risk for preterm birth. J Perinatol (1992) 1.41
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). Hum Genet (2001) 1.41
Ribonucleoside phosphates via phosphorimidazolidate intermediates. Synthesis of pseudoadenosine 5'-triphosphate. Biochemistry (1973) 1.40
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain (2003) 1.40
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet (1993) 1.39
The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum Mol Genet (1997) 1.39
A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. Genomics (1993) 1.38