A citation-based method for searching scientific literature

Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B Griffin, Ludmila Francescatto, Burcak Ozes, Ender Karaca, Shalini N Jhangiani, Matthew N Bainbridge, Kim S Lawson, Davut Pehlivan, Yuji Okamoto, Marjorie Withers, Pedro Mancias, Anne Slavotinek, Pamela J Reitnauer, Meryem T Goksungur, Michael Shy, Thomas O Crawford, Michel Koenig, Jason Willer, Brittany N Flores, Igor Pediaditrakis, Onder Us, Wojciech Wiszniewski, Yesim Parman, Anthony Antonellis, Donna M Muzny, Nicholas Katsanis, Esra Battaloglu, Eric Boerwinkle, Richard A Gibbs, James R Lupski. Cell Rep 2015
Times Cited: 161







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



Times Cited
  Times     Co-cited
Similarity


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
20

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
17

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
378
15

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.
Philippe Latour, Christel Thauvin-Robinet, Chantal Baudelet-Méry, Pierre Soichot, Veronica Cusin, Laurence Faivre, Marie-Claire Locatelli, Martine Mayençon, Annie Sarcey, Emmanuel Broussolle,[...]. Am J Hum Genet 2010
158
14

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.
Michael Gonzalez, Heather McLaughlin, Henry Houlden, Min Guo, Liu Yo-Tsen, Marios Hadjivassilious, Fiorella Speziani, Xiang-Lei Yang, Anthony Antonellis, Mary M Reilly,[...]. J Neurol Neurosurg Psychiatry 2013
91
15

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N Engl J Med 2013
13

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
Anthony Antonellis, Rachel E Ellsworth, Nyamkhishig Sambuughin, Imke Puls, Annette Abel, Shih-Queen Lee-Lin, Albena Jordanova, Ivo Kremensky, Kyproula Christodoulou, Lefkos T Middleton,[...]. Am J Hum Genet 2003
401
12


Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.
Albena Jordanova, Joy Irobi, Florian P Thomas, Patrick Van Dijck, Kris Meerschaert, Maarten Dewil, Ines Dierick, An Jacobs, Els De Vriendt, Velina Guergueltcheva,[...]. Nat Genet 2006
270
12

Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing.
Soo Hyun Nam, Young Bin Hong, Young Se Hyun, Da Eun Nam, Geon Kwak, Sun Hee Hwang, Byung-Ok Choi, Ki Wha Chung. Mol Cells 2016
54
22

De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
William W Motley, Paulius Palaima, Sabrina W Yum, Michael A Gonzalez, Feifei Tao, Julia V Wanschitz, Alleene V Strickland, Wolfgang N Löscher, Els De Vriendt, Stefan Koppi,[...]. Brain 2016
27
40

A role of peripheral myelin protein 2 in lipid homeostasis of myelinating Schwann cells.
Jennifer Zenker, Mark Stettner, Salla Ruskamo, Enric Domènech-Estévez, Hasna Baloui, Jean-Jacques Médard, Mark H G Verheijen, Jos F Brouwers, Petri Kursula, Bernd C Kieseier,[...]. Glia 2014
40
27

A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy.
Young Bin Hong, Jaesoon Joo, Young Se Hyun, Geon Kwak, Yu-Ri Choi, Ha Kyung Yeo, Dong Hwan Jwa, Eun Ja Kim, Won Min Mo, Soo Hyun Nam,[...]. PLoS Genet 2016
30
36

A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
Pei-Chien Tsai, Bing-Wen Soong, Inès Mademan, Yen-Hua Huang, Chia-Rung Liu, Cheng-Tsung Hsiao, Hung-Ta Wu, Tze-Tze Liu, Yo-Tsen Liu, Yen-Ting Tseng,[...]. Brain 2017
48
22

Clinical implications of genetic advances in Charcot-Marie-Tooth disease.
Alexander M Rossor, James M Polke, Henry Houlden, Mary M Reilly. Nat Rev Neurol 2013
211
11

Structural and functional characterization of human peripheral nervous system myelin protein P2.
Viivi Majava, Eugenia Polverini, Alberto Mazzini, Rahul Nanekar, Wiebke Knoll, Judith Peters, Francesca Natali, Peter Baumgärtel, Inari Kursula, Petri Kursula. PLoS One 2010
43
23

Molecular findings among patients referred for clinical whole-exome sequencing.
Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay,[...]. JAMA 2014
860
10

Genetic heterogeneity of motor neuropathies.
Boglarka Bansagi, Helen Griffin, Roger G Whittaker, Thalia Antoniadi, Teresinha Evangelista, James Miller, Mark Greenslade, Natalie Forester, Jennifer Duff, Anna Bradshaw,[...]. Neurology 2017
55
18

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
223
10

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
Dana Safka Brozkova, Tine Deconinck, Laurie Beth Griffin, Andreas Ferbert, Jana Haberlova, Radim Mazanec, Petra Lassuthova, Christian Roth, Thanita Pilunthanakul, Bernd Rautenstrauss,[...]. Brain 2015
51
19

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
Aimée Vester, Gisselle Velez-Ruiz, Heather M McLaughlin, James R Lupski, Kevin Talbot, Jeffery M Vance, Stephan Züchner, Ricardo H Roda, Kenneth H Fischbeck, Leslie G Biesecker,[...]. Hum Mutat 2013
85
11

Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy.
Y S Hyun, H J Park, S-H Heo, B R Yoon, S H Nam, S-B Kim, C I Park, B-O Choi, K W Chung. Clin Genet 2014
31
32

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
327
10

Atomic resolution view into the structure-function relationships of the human myelin peripheral membrane protein P2.
Salla Ruskamo, Ravi P Yadav, Satyan Sharma, Mari Lehtimäki, Saara Laulumaa, Shweta Aggarwal, Mikael Simons, Jochen Bürck, Anne S Ulrich, André H Juffer,[...]. Acta Crystallogr D Biol Crystallogr 2014
31
29

Molecular diagnostic experience of whole-exome sequencing in adult patients.
Jennifer E Posey, Jill A Rosenfeld, Regis A James, Matthew Bainbridge, Zhiyv Niu, Xia Wang, Shweta Dhar, Wojciech Wiszniewski, Zeynep H C Akdemir, Tomasz Gambin,[...]. Genet Med 2016
139
9


TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
N Wu, X Ming, J Xiao, Z Wu, X Chen, M Shinawi, Y Shen, G Yu, J Liu, H Xie,[...]. N Engl J Med 2015
162
9

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
Heather M McLaughlin, Reiko Sakaguchi, William Giblin, Thomas E Wilson, Leslie Biesecker, James R Lupski, Kevin Talbot, Jeffery M Vance, Stephan Züchner, Yi-Chung Lee,[...]. Hum Mutat 2012
72
12

CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.
Weiwei He, Ge Bai, Huihao Zhou, Na Wei, Nicholas M White, Janelle Lauer, Huaqing Liu, Yi Shi, Calin Dan Dumitru, Karen Lettieri,[...]. Nature 2015
97
9

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.
V Fridman, B Bundy, M M Reilly, D Pareyson, C Bacon, J Burns, J Day, S Feely, R S Finkel, T Grider,[...]. J Neurol Neurosurg Psychiatry 2015
167
9

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
James R Lupski, Jeffrey G Reid, Claudia Gonzaga-Jauregui, David Rio Deiros, David C Y Chen, Lynne Nazareth, Matthew Bainbridge, Huyen Dinh, Chyn Jing, David A Wheeler,[...]. N Engl J Med 2010
531
9

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
Nara Sobreira, François Schiettecatte, David Valle, Ada Hamosh. Hum Mutat 2015
704
8

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
Christina DiVincenzo, Christopher D Elzinga, Adam C Medeiros, Izabela Karbassi, Jeremiah R Jones, Matthew C Evans, Corey D Braastad, Crystal M Bishop, Malgorzata Jaremko, Zhenyuan Wang,[...]. Mol Genet Genomic Med 2014
114
8

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
9

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
8

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
26

An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model.
Kevin L Seburn, Leslie A Nangle, Gregory A Cox, Paul Schimmel, Robert W Burgess. Neuron 2006
152
8

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
Heather M McLaughlin, Reiko Sakaguchi, Cuiping Liu, Takao Igarashi, Davut Pehlivan, Kristine Chu, Ram Iyer, Pedro Cruz, Praveen F Cherukuri, Nancy F Hansen,[...]. Am J Hum Genet 2010
145
8

Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.
William W Motley, Kevin L Seburn, Mir Hussain Nawaz, Kathy E Miers, Jun Cheng, Anthony Antonellis, Eric D Green, Kevin Talbot, Xiang-Lei Yang, Kenneth H Fischbeck,[...]. PLoS Genet 2011
85
9

Recent advances in the genetic neuropathies.
Alexander M Rossor, Pedro J Tomaselli, Mary M Reilly. Curr Opin Neurol 2016
57
14

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
Kon-Ping Lin, Bing-Wen Soong, Chih-Chao Yang, Li-Wen Huang, Ming-Hong Chang, I-Hui Lee, Anthony Antonellis, Yi-Chung Lee. PLoS One 2011
69
11

Clan genomics and the complex architecture of human disease.
James R Lupski, John W Belmont, Eric Boerwinkle, Richard A Gibbs. Cell 2011
242
8

Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases.
Sven Niehues, Julia Bussmann, Georg Steffes, Ines Erdmann, Caroline Köhrer, Litao Sun, Marina Wagner, Kerstin Schäfer, Guangxia Wang, Sophia N Koerdt,[...]. Nat Commun 2015
67
10

Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect.
Leslie A Nangle, Wei Zhang, Wei Xie, Xiang-Lei Yang, Paul Schimmel. Proc Natl Acad Sci U S A 2007
110
7

Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy.
Z Zhao, A Hashiguchi, J Hu, Y Sakiyama, Y Okamoto, S Tokunaga, L Zhu, H Shen, H Takashima. Neurology 2012
48
14

Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy.
Wei Wang, Chen Wang, D Brian Dawson, Erik C Thorland, Patrick A Lundquist, Bruce W Eckloff, Yanhong Wu, Saurabh Baheti, Jared M Evans, Steven S Scherer,[...]. Neurology 2016
43
16

TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice.
Nan Yang, Nan Wu, Ling Zhang, Yanxue Zhao, Jiaqi Liu, Xiangyu Liang, Xiaojun Ren, Weiyu Li, Weisheng Chen, Shuangshuang Dong,[...]. Hum Mol Genet 2019
28
25

Phenotypic expansion illuminates multilocus pathogenic variation.
Ender Karaca, Jennifer E Posey, Zeynep Coban Akdemir, Davut Pehlivan, Tamar Harel, Shalini N Jhangiani, Yavuz Bayram, Xiaofei Song, Vahid Bahrambeigi, Ozge Ozalp Yuregir,[...]. Genet Med 2018
68
10

Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.
Stéphane Mathis, Cyril Goizet, Meriem Tazir, Corinne Magdelaine, Anne-Sophie Lia, Laurent Magy, Jean-Michel Vallat. J Med Genet 2015
63
11

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Juliette Bacquet, Tanya Stojkovic, Amandine Boyer, Nathalie Martini, Frédérique Audic, Brigitte Chabrol, Emmanuelle Salort-Campana, Emilien Delmont, Jean-Pierre Desvignes, Annie Verschueren,[...]. BMJ Open 2018
23
30


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.