A citation-based method for searching scientific literature


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



Times Cited
  Times     Co-cited
Similarity


Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
Pedro M Rodríguez Cruz, Katsiaryna Belaya, Keivan Basiri, Maryam Sedghi, Maria Elena Farrugia, Janice L Holton, Wei Wei Liu, Susan Maxwell, Richard Petty, Timothy J Walls,[...]. J Neurol Neurosurg Psychiatry 2016
30
3

Clinical sequencing: is WGS the better WES?
Janine Meienberg, Rémy Bruggmann, Konrad Oexle, Gabor Matyas. Hum Genet 2016
118
1

Next-generation sequencing reveals broad down-regulation of microRNAs in secondary progressive multiple sclerosis CD4+ T cells.
Katherine A Sanders, Miles C Benton, Rod A Lea, Vicki E Maltby, Susan Agland, Nathan Griffin, Rodney J Scott, Lotti Tajouri, Jeannette Lechner-Scott. Clin Epigenetics 2016
25
4


A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants.
Yoko Takahashi, Masaya Kubota, Rika Kosaki, Kenjiro Kosaki, Akira Ishiguro. Brain Dev 2021
1
100

Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.
Robert Steinfeld, Marcel Grapp, Ralph Kraetzner, Steffi Dreha-Kulaczewski, Gunther Helms, Peter Dechent, Ron Wevers, Salvatore Grosso, Jutta Gärtner. Am J Hum Genet 2009
132
1

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
40
2

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).
Claudia Ciaccio, Raffaele Castello, Silvia Esposito, Michele Pinelli, Vincenzo Nigro, Giorgio Casari, Luisa Chiapparini, Chiara Pantaleoni, Stefano D'Arrigo. Cerebellum 2019
6
16

Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges.
Menelaos Pipis, Alexander M Rossor, Matilde Laura, Mary M Reilly. Nat Rev Neurol 2019
40
2

No evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis.
Maria Ban, Stacy Caillier, Inger-Lise Mero, Kjell-Morten Myhr, Elisabeth G Celius, Jan Aarseth, Øivind Torkildsen, Hanne F Harbo, Jorge Oksenberg, Stephen L Hauser,[...]. Ann Neurol 2013
27
3

First finding of familial spinal cerebellar Ataxia11 in China: clinical, imaging and genetic features.
Yan Deng, Jie Fu, YuQin Zhong, Ming Zhang, Xueliang Qi. Neurol Sci 2020
1
100



Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Thalia Antoniadi, Chris Buxton, Gemma Dennis, Natalie Forrester, Debbie Smith, Peter Lunt, Sarah Burton-Jones. BMC Med Genet 2015
36
2

The Third Revolution in Sequencing Technology.
Erwin L van Dijk, Yan Jaszczyszyn, Delphine Naquin, Claude Thermes. Trends Genet 2018
235
1

Diagnostic clinical genome and exome sequencing.
Jan Westerink, Frank L J Visseren, Wilko Spiering. N Engl J Med 2014
3
33

Clinical application of next-generation sequencing to the practice of neurology.
Jessica Rexach, Hane Lee, Julian A Martinez-Agosto, Andrea H Németh, Brent L Fogel. Lancet Neurol 2019
26
3

Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
Duygu Selcen, Francesco Muntoni, Barbara K Burton, Elena Pegoraro, Caroline Sewry, Anna V Bite, Andrew G Engel. Ann Neurol 2009
224
1

Cerebellar ataxias: an update.
Mario Manto, Jordi Gandini, Katharina Feil, Michael Strupp. Curr Opin Neurol 2020
11
9

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.
Jong Hee Chae, Valeria Vasta, Anna Cho, Byung Chan Lim, Qing Zhang, So Hee Eun, Si Houn Hahn. J Med Genet 2015
63
1

Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.
Dana Gabrikova, Martin Mistrik, Jarmila Bernasovska, Alexandra Bozikova, Regina Behulova, Iveta Tothova, Sona Macekova. J Appl Genet 2013
12
8

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
144
1

Spinocerebellar ataxia: an update.
Roisin Sullivan, Wai Yan Yau, Emer O'Connor, Henry Houlden. J Neurol 2019
41
2


An integrated map of structural variation in 2,504 human genomes.
Peter H Sudmant, Tobias Rausch, Eugene J Gardner, Robert E Handsaker, Alexej Abyzov, John Huddleston, Yan Zhang, Kai Ye, Goo Jun, Markus Hsi-Yang Fritz,[...]. Nature 2015
927
1

Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study.
Tommy Stödberg, Torbjörn Tomson, Michela Barbaro, Henrik Stranneheim, Britt-Marie Anderlid, Sofia Carlsson, Per Åmark, Anna Wedell. Epilepsia 2020
4
25

Recent advances in the genetic neuropathies.
Alexander M Rossor, Pedro J Tomaselli, Mary M Reilly. Curr Opin Neurol 2016
49
2

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.
Katharina Schwarze, James Buchanan, Jenny C Taylor, Sarah Wordsworth. Genet Med 2018
172
1

BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot-Marie-Tooth disease.
Jun Fu, Mingming Ma, Jia Song, Mi Pang, Gang Li, Jiewen Zhang. J Neurol 2020
5
20

The role of de novo mutations in adult-onset neurodegenerative disorders.
Gaël Nicolas, Joris A Veltman. Acta Neuropathol 2019
18
5

Parkinson's disease associated with pure ATXN10 repeat expansion.
Birgitt Schüle, Karen N McFarland, Kelsey Lee, Yu-Chih Tsai, Khanh-Dung Nguyen, Chao Sun, Mei Liu, Christie Byrne, Ramesh Gopi, Neng Huang,[...]. NPJ Parkinsons Dis 2017
30
3

Molecular diagnosis of myopathies.
Andrew Gomez-Vargas, Steven K Baker. Rheum Dis Clin North Am 2011
1
100

Congenital Myasthenic Syndromes.
Stanley Jones P Iyadurai. Neurol Clin 2020
2
50

Muscular dystrophies.
Eugenio Mercuri, Carsten G Bönnemann, Francesco Muntoni. Lancet 2019
54
1

Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.
Paul Dunn, Cassie L Albury, Neven Maksemous, Miles C Benton, Heidi G Sutherland, Robert A Smith, Larisa M Haupt, Lyn R Griffiths. Front Genet 2018
33
3

De novo mutations in human genetic disease.
Joris A Veltman, Han G Brunner. Nat Rev Genet 2012
435
1


Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.
Hugh J McMillan, Jeremy Schwartzentruber, Amanda Smith, Suzie Lee, Pranesh Chakraborty, Dennis E Bulman, Chandree L Beaulieu, Jacek Majewski, Kym M Boycott, Michael T Geraghty. BMC Med Genet 2014
33
3

Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.
Jodi Warman Chardon, Chandree Beaulieu, Taila Hartley, Kym M Boycott, David A Dyment. Curr Neurol Neurosci Rep 2015
20
5

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui, Jun Yoshimura, Miho Kawabe Matsukawa, Asao Fujiyama, Yasuko Toyoshima, Akiyoshi Kakita, Hitoshi Takahashi, Yutaka Suzuki,[...]. Nat Genet 2018
107
1


Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
David Hunt, Richard J Leventer, Cas Simons, Ryan Taft, Kathryn J Swoboda, Mary Gawne-Cain, Alex C Magee, Peter D Turnpenny, Diana Baralle. J Med Genet 2014
43
2

Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report.
Kouhei Den, Yosuke Kudo, Mitsuhiro Kato, Kosuke Watanabe, Hiroshi Doi, Fumiaki Tanaka, Hirokazu Oguni, Satoko Miyatake, Takeshi Mizuguchi, Atsushi Takata,[...]. BMC Neurol 2019
7
14

Pulse-Field capillary electrophoresis of repeat-primed PCR amplicons for analysis of large repeats in Spinocerebellar Ataxia Type 10.
Vera Hashem, Anjana Tiwari, Brittani Bewick, Helio A G Teive, Mariana Moscovich, Birgitt Schüele, Khalaf Bushara, Matt Bower, Astrid Rasmussen, Yu-Chih Tsai,[...]. PLoS One 2020
2
50


Phenotype-Driven Virtual Panel Is an Effective Method to Analyze WES Data of Neurological Disease.
Xu Wang, Xiang Shen, Fang Fang, Chang-Hong Ding, Hao Zhang, Zhen-Hua Cao, Dong-Yan An. Front Pharmacol 2019
10
10

TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4.
Patra Yeetong, Monnat Pongpanich, Chalurmpon Srichomthong, Adjima Assawapitaksakul, Varote Shotelersuk, Nithiphut Tantirukdham, Chaipat Chunharas, Kanya Suphapeetiporn, Vorasuk Shotelersuk. Brain 2019
28
3

Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy.
A T J M Helderman-van den Enden, R de Jong, J T den Dunnen, J J Houwing-Duistermaat, A L J Kneppers, H B Ginjaar, M H Breuning, E Bakker. Clin Genet 2009
46
2

Novel NEXMIF gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability.
Dengchang Wu, Caihong Ji, Zhongqin Chen, Kang Wang. Am J Med Genet A 2020
2
50

The distribution of fitness effects of new mutations.
Adam Eyre-Walker, Peter D Keightley. Nat Rev Genet 2007
669
1


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.