Published in Hum Genet on July 07, 2016
Real-time DNA sequencing from single polymerase molecules. Science (2008) 29.53
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell (2007) 9.81
Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet (1998) 7.93
Structural variation in the human genome and its role in disease. Annu Rev Med (2010) 7.85
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet (2005) 7.60
A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet (2009) 6.39
MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings. Trends Genet (2008) 6.00
DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell (1993) 4.57
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet (1997) 4.15
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet (2009) 3.81
Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet (1992) 3.27
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2) Am J Med Genet (1996) 3.17
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. Cell (2015) 3.10
Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet (2003) 2.75
Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet (2003) 2.59
A chromosomal deletion map of human malformations. Am J Hum Genet (1998) 2.50
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet (2014) 2.37
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome. Nat Genet (1994) 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
A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans. Am J Hum Genet (1999) 2.15
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res (2002) 1.91
Genomic disorders ten years on. Genome Med (2009) 1.81
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
Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms. Hum Genet (2004) 1.64
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet (1996) 1.56
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci U S A (1989) 1.43
Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. Am J Hum Genet (2011) 1.43
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet Med (2006) 1.39
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. PLoS Biol (2010) 1.36
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. Clin Genet (2007) 1.35
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
Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics (2015) 1.26
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res (2013) 1.21
RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. Am J Med Genet A (2006) 1.19
Conduction block in PMP22 deficiency. J Neurosci (2010) 1.16
TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med (2015) 1.15
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet (2014) 1.14
DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage. Science (2015) 1.11
Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. Arch Neurol (2007) 1.11
Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. Genet Med (2011) 1.08
Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike. Am J Hum Genet (2007) 1.07
Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet (2016) 1.06
Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. Am J Med Genet (1993) 1.04
Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation. Hum Mol Genet (1996) 1.03
A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. PLoS Genet (2012) 1.03
Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. Hum Genet (1996) 1.02
The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet (2011) 1.01
Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen (2015) 1.00
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
PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. BMC Genomics (2015) 0.90
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. Genet Med (2012) 0.89
Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. PLoS Genet (2015) 0.85
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet (2016) 0.84
Hereditary compression syndrome of peripheral nerves. Neurology (1965) 0.84
Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update. Neuromuscul Disord (2015) 0.83
[Not Available]. Monatsschr Psychiatr Neurol (1947) 0.81
Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes. J Pediatr Genet (2015) 0.77
Hereditary neuropathy with liability to pressure palsies in childhood. Neuropediatrics (1992) 0.76
Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy. Am J Med Genet A (2013) 0.76
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. Acta Neuropathol Commun (2016) 0.77
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med (2016) 0.76
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Med (2016) 0.75
Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med (2017) 0.75
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet (2020) 0.75