Davut Pehlivan, Christine R Beck, Yuji Okamoto, Tamar Harel, Zeynep H C Akdemir, Shalini N Jhangiani, Marjorie A Withers, Meryem Tuba Goksungur, Claudia M B Carvalho, Dirk Czesnik, Claudia Gonzaga-Jauregui, Wojciech Wiszniewski, Donna M Muzny, Richard A Gibbs, Bernd Rautenstrauss, Michael W Sereda, James R Lupski. Genet Med 2016
Times Cited: 13
Times Cited: 13
Times Cited
Times Co-cited
Similarity
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
Yuji Okamoto, Meryem Tuba Goksungur, Davut Pehlivan, Christine R Beck, Claudia Gonzaga-Jauregui, Donna M Muzny, Mehmed M Atik, Claudia M B Carvalho, Zeliha Matur, Serife Bayraktar,[...]. Genet Med 2014
Yuji Okamoto, Meryem Tuba Goksungur, Davut Pehlivan, Christine R Beck, Claudia Gonzaga-Jauregui, Donna M Muzny, Mehmed M Atik, Claudia M B Carvalho, Zeliha Matur, Serife Bayraktar,[...]. Genet Med 2014
38
Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.
Jia Huang, Xingyao Wu, Gladys Montenegro, Justin Price, Gaofeng Wang, Jeffery M Vance, Michael E Shy, Stephan Züchner. J Neurol 2010
Jia Huang, Xingyao Wu, Gladys Montenegro, Justin Price, Gaofeng Wang, Jeffery M Vance, Michael E Shy, Stephan Züchner. J Neurol 2010
30
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
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30
Charcot-Marie-Tooth disease subtypes and genetic testing strategies.
Anita S D Saporta, Stephanie L Sottile, Lindsey J Miller, Shawna M E Feely, Carly E Siskind, Michael E Shy. Ann Neurol 2011
Anita S D Saporta, Stephanie L Sottile, Lindsey J Miller, Shawna M E Feely, Carly E Siskind, Michael E Shy. Ann Neurol 2011
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Global variation in copy number in the human genome.
Richard Redon, Shumpei Ishikawa, Karen R Fitch, Lars Feuk, George H Perry, T Daniel Andrews, Heike Fiegler, Michael H Shapero, Andrew R Carson, Wenwei Chen,[...]. Nature 2006
Richard Redon, Shumpei Ishikawa, Karen R Fitch, Lars Feuk, George H Perry, T Daniel Andrews, Heike Fiegler, Michael H Shapero, Andrew R Carson, Wenwei Chen,[...]. Nature 2006
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Structural variation in the human genome.
Lars Feuk, Andrew R Carson, Stephen W Scherer. Nat Rev Genet 2006
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Topological domains in mammalian genomes identified by analysis of chromatin interactions.
Jesse R Dixon, Siddarth Selvaraj, Feng Yue, Audrey Kim, Yan Li, Yin Shen, Ming Hu, Jun S Liu, Bing Ren. Nature 2012
Jesse R Dixon, Siddarth Selvaraj, Feng Yue, Audrey Kim, Yan Li, Yin Shen, Ming Hu, Jun S Liu, Bing Ren. Nature 2012
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Copy number variations in a population-based study of Charcot-Marie-Tooth disease.
Helle Høyer, Geir J Braathen, Anette K Eek, Gry B N Nordang, Camilla F Skjelbred, Michael B Russell. Biomed Res Int 2015
Helle Høyer, Geir J Braathen, Anette K Eek, Gry B N Nordang, Camilla F Skjelbred, Michael B Russell. Biomed Res Int 2015
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The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.
V Timmerman, E Nelis, W Van Hul, B W Nieuwenhuijsen, K L Chen, S Wang, K Ben Othman, B Cullen, R J Leach, C O Hanemann. Nat Genet 1992
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Structural variation in the human genome and its role in disease.
Paweł Stankiewicz, James R Lupski. Annu Rev Med 2010
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Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.
Megan H Brewer, Rabia Chaudhry, Jessica Qi, Aditi Kidambi, Alexander P Drew, Manoj P Menezes, Monique M Ryan, Michelle A Farrar, David Mowat, Gopinath M Subramanian,[...]. PLoS Genet 2016
Megan H Brewer, Rabia Chaudhry, Jessica Qi, Aditi Kidambi, Alexander P Drew, Manoj P Menezes, Monique M Ryan, Michelle A Farrar, David Mowat, Gopinath M Subramanian,[...]. PLoS Genet 2016
23
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B Griffin, Ludmila Francescatto, Burcak Ozes, Ender Karaca, Shalini N Jhangiani, Matthew N Bainbridge,[...]. Cell Rep 2015
Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B Griffin, Ludmila Francescatto, Burcak Ozes, Ender Karaca, Shalini N Jhangiani, Matthew N Bainbridge,[...]. Cell Rep 2015
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
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23
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
Tomasz Gambin, Zeynep C Akdemir, Bo Yuan, Shen Gu, Theodore Chiang, Claudia M B Carvalho, Chad Shaw, Shalini Jhangiani, Philip M Boone, Mohammad K Eldomery,[...]. Nucleic Acids Res 2017
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23
A method and server for predicting damaging missense mutations.
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23
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.
Vincenzo Lupo, Francisco García-García, Paula Sancho, Cristina Tello, Mar García-Romero, Liliana Villarreal, Antonia Alberti, Rafael Sivera, Joaquín Dopazo, Samuel I Pascual-Pascual,[...]. J Mol Diagn 2016
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15
Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.
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15
Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.
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15
An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.
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DNA deletion associated with hereditary neuropathy with liability to pressure palsies.
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Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero.
Helle Høyer, Geir J Braathen, Anette K Eek, Camilla F Skjelbred, Michael B Russell. Eur J Med Genet 2011
Helle Høyer, Geir J Braathen, Anette K Eek, Camilla F Skjelbred, Michael B Russell. Eur J Med Genet 2011
15
Mechanisms underlying structural variant formation in genomic disorders.
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
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15
Long-range control of gene expression: emerging mechanisms and disruption in disease.
Dirk A Kleinjan, Veronica van Heyningen. Am J Hum Genet 2005
Dirk A Kleinjan, Veronica van Heyningen. Am J Hum Genet 2005
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Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.
Feng Zhang, Pavel Seeman, Pengfei Liu, Marian A J Weterman, Claudia Gonzaga-Jauregui, Charles F Towne, Sat Dev Batish, Els De Vriendt, Peter De Jonghe, Bernd Rautenstrauss,[...]. Am J Hum Genet 2010
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15
DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
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15
Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22.
Erin A Jones, Megan H Brewer, Rajini Srinivasan, Courtney Krueger, Guannan Sun, Kira N Charney, Sunduz Keles, Anthony Antonellis, John Svaren. Hum Mol Genet 2012
Erin A Jones, Megan H Brewer, Rajini Srinivasan, Courtney Krueger, Guannan Sun, Kira N Charney, Sunduz Keles, Anthony Antonellis, John Svaren. Hum Mol Genet 2012
15
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
Alexander P Drew, Danqing Zhu, Aditi Kidambi, Carolyn Ly, Shelisa Tey, Megan H Brewer, Azlina Ahmad-Annuar, Garth A Nicholson, Marina L Kennerson. Mol Genet Genomic Med 2015
Alexander P Drew, Danqing Zhu, Aditi Kidambi, Carolyn Ly, Shelisa Tey, Megan H Brewer, Azlina Ahmad-Annuar, Garth A Nicholson, Marina L Kennerson. Mol Genet Genomic Med 2015
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Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease.
I G Huttner, M L Kennerson, S W Reddel, D Radovanovic, G A Nicholson. Neurology 2006
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A map of human genome variation from population-scale sequencing.
Gonçalo R Abecasis, David Altshuler, Adam Auton, Lisa D Brooks, Richard M Durbin, Richard A Gibbs, Matt E Hurles, Gil A McVean. Nature 2010
Gonçalo R Abecasis, David Altshuler, Adam Auton, Lisa D Brooks, Richard M Durbin, Richard A Gibbs, Matt E Hurles, Gil A McVean. Nature 2010
15
X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3.
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15
Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis.
Gina M DeStefano, Katherine A Fantauzzo, Lynn Petukhova, Mazen Kurban, Marija Tadin-Strapps, Brynn Levy, Dorothy Warburton, Elizabeth T Cirulli, Yujun Han, Xiaoyun Sun,[...]. Proc Natl Acad Sci U S A 2013
Gina M DeStefano, Katherine A Fantauzzo, Lynn Petukhova, Mazen Kurban, Marija Tadin-Strapps, Brynn Levy, Dorothy Warburton, Elizabeth T Cirulli, Yujun Han, Xiaoyun Sun,[...]. Proc Natl Acad Sci U S A 2013
15
Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease.
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15
Structural variations, the regulatory landscape of the genome and their alteration in human disease.
Malte Spielmann, Stefan Mundlos. Bioessays 2013
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15
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
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15
Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease.
Meiko Hashimoto Maeda, Jun Mitsui, Bing-Wen Soong, Yuji Takahashi, Hiroyuki Ishiura, Shin Hayashi, Yuichiro Shirota, Yaeko Ichikawa, Hideyuki Matsumoto, Makoto Arai,[...]. Ann Neurol 2012
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15
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
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15
The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.
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Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene.
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Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
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15
Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal.
Bryan Haines, James Hughes, Mark Corbett, Marie Shaw, Josie Innes, Leena Patel, Jozef Gecz, Jill Clayton-Smith, Paul Thomas. J Clin Endocrinol Metab 2015
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Clinical phenotype in X-linked Charcot-Marie-Tooth disease with an entire deletion of the connexin 32 coding sequence.
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A microhomology-mediated break-induced replication model for the origin of human copy number variation.
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Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.
Marian A J Weterman, Fred van Ruissen, Marit de Wissel, Lou Bordewijk, Johnny P A Samijn, W Ludo van der Pol, Farid Meggouh, Frank Baas. Eur J Hum Genet 2010
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The Database of Genomic Variants: a curated collection of structural variation in the human genome.
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Detection of clinically relevant exonic copy-number changes by array CGH.
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The functional impact of structural variation in humans.
Matthew E Hurles, Emmanouil T Dermitzakis, Chris Tyler-Smith. Trends Genet 2008
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Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review.
Lidiane Carine Lima Santos Barreto, Fernanda Santos Oliveira, Paula Santos Nunes, Iandra Maria Pinheiro de França Costa, Catarina Andrade Garcez, Gabriel Mattos Goes, Eduardo Luis Aquino Neves, Jullyana de Souza Siqueira Quintans, Adriano Antunes de Souza Araújo. Neuroepidemiology 2016
Lidiane Carine Lima Santos Barreto, Fernanda Santos Oliveira, Paula Santos Nunes, Iandra Maria Pinheiro de França Costa, Catarina Andrade Garcez, Gabriel Mattos Goes, Eduardo Luis Aquino Neves, Jullyana de Souza Siqueira Quintans, Adriano Antunes de Souza Araújo. Neuroepidemiology 2016
15
The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management.
J Chad Hoyle, Michael C Isfort, Jennifer Roggenbuck, W David Arnold. Appl Clin Genet 2015
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Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.
Vincent Timmerman, Alleene V Strickland, Stephan Züchner. Genes (Basel) 2014
Vincent Timmerman, Alleene V Strickland, Stephan Züchner. Genes (Basel) 2014
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Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.
Anthony N Cutrupi, Megan H Brewer, Garth A Nicholson, Marina L Kennerson. Mol Genet Genomic Med 2018
Anthony N Cutrupi, Megan H Brewer, Garth A Nicholson, Marina L Kennerson. Mol Genet Genomic Med 2018
16
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.