A citation-based method for searching scientific literature

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







List of co-cited articles
66 articles co-cited >1



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
26
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
20
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.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
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
324
30

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
23

Structural variation in the human genome.
Lars Feuk, Andrew R Carson, Stephen W Scherer. Nat Rev Genet 2006
23

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
23

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
14
23

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
386
23

Structural variation in the human genome and its role in disease.
Paweł Stankiewicz, James R Lupski. Annu Rev Med 2010
690
23

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
13
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
157
23

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Jennifer E Posey, Tamar Harel, Pengfei Liu, Jill A Rosenfeld, Regis A James, Zeynep H Coban Akdemir, Magdalena Walkiewicz, Weimin Bi, Rui Xiao, Yan Ding,[...]. N Engl J Med 2017
365
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
70
23

A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
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
30
15

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.
Byung-Ok Choi, Soo Kyung Koo, Mi-Hyun Park, Hwanseok Rhee, Song-Ju Yang, Kyoung-Gyu Choi, Sung-Chul Jung, Han Su Kim, Young Se Hyun, Khriezhanuo Nakhro,[...]. Hum Mutat 2012
81
15

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.
Sinead M Murphy, Matilde Laura, Katherine Fawcett, Amelie Pandraud, Yo-Tsen Liu, Gabrielle L Davidson, Alexander M Rossor, James M Polke, Victoria Castleman, Hadi Manji,[...]. J Neurol Neurosurg Psychiatry 2012
220
15

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.
Michael R Bowl, M Andrew Nesbit, Brian Harding, Elaine Levy, Andrew Jefferson, Emanuela Volpi, Karine Rizzoti, Robin Lovell-Badge, David Schlessinger, Michael P Whyte,[...]. J Clin Invest 2005
60
15

DNA deletion associated with hereditary neuropathy with liability to pressure palsies.
P F Chance, M K Alderson, K A Leppig, M W Lensch, N Matsunami, B Smith, P D Swanson, S J Odelberg, C M Disteche, T D Bird. Cell 1993
681
15

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
21
15

Mechanisms underlying structural variant formation in genomic disorders.
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
292
15

Long-range control of gene expression: emerging mechanisms and disruption in disease.
Dirk A Kleinjan, Veronica van Heyningen. Am J Hum Genet 2005
645
15

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
92
15

DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
J R Lupski, R M de Oca-Luna, S Slaugenhaupt, L Pentao, V Guzzetta, B J Trask, O Saucedo-Cardenas, D F Barker, J M Killian, C A Garcia,[...]. Cell 1991
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
27
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
43
15

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
16
15

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
15

X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3.
Hongwen Zhu, Dandan Shang, Miao Sun, Sunju Choi, Qing Liu, Jiajie Hao, Luis E Figuera, Feng Zhang, Kwong Wai Choy, Yang Ao,[...]. Am J Hum Genet 2011
39
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
35
15

Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease.
C Lin, C Numakura, T Ikegami, M Shizuka, M Shoji, G Nicholson, K Hayasaka. Tohoku J Exp Med 1999
19
15


Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
Darío G Lupiáñez, Katerina Kraft, Verena Heinrich, Peter Krawitz, Francesco Brancati, Eva Klopocki, Denise Horn, Hülya Kayserili, John M Opitz, Renata Laxova,[...]. Cell 2015
998
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
25
15

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
P I Patel, B B Roa, A A Welcher, R Schoener-Scott, B J Trask, L Pentao, G J Snipes, C A Garcia, U Francke, E M Shooter,[...]. Nat Genet 1992
482
15

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.
L J Valentijn, P A Bolhuis, I Zorn, J E Hoogendijk, N van den Bosch, G W Hensels, V P Stanton, D E Housman, K H Fischbeck, D A Ross. Nat Genet 1992
317
15


Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
Maria Schabhüttl, Thomas Wieland, Jan Senderek, Jonathan Baets, Vincent Timmerman, Peter De Jonghe, Mary M Reilly, Karl Stieglbauer, Eva Laich, Reinhard Windhager,[...]. J Neurol 2014
37
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
29
15

Clinical phenotype in X-linked Charcot-Marie-Tooth disease with an entire deletion of the connexin 32 coding sequence.
M Nakagawa, H Takashima, F Umehara, K Arimura, F Miyashita, N Takenouchi, W Matsuyama, M Osame. J Neurol Sci 2001
26
15


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
36
15

The Database of Genomic Variants: a curated collection of structural variation in the human genome.
Jeffrey R MacDonald, Robert Ziman, Ryan K C Yuen, Lars Feuk, Stephen W Scherer. Nucleic Acids Res 2014
691
15

Detection of clinically relevant exonic copy-number changes by array CGH.
Philip M Boone, Carlos A Bacino, Chad A Shaw, Patricia A Eng, Patricia M Hixson, Amber N Pursley, Sung-Hae L Kang, Yaping Yang, Joanna Wiszniewska, Beata A Nowakowska,[...]. Hum Mutat 2010
185
15

The functional impact of structural variation in humans.
Matthew E Hurles, Emmanouil T Dermitzakis, Chris Tyler-Smith. Trends Genet 2008
105
15

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
102
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
35
15

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
151
15



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.