A citation-based method for searching scientific literature

Sven Günther, Ewelina Elert-Dobkowska, Anne S Soehn, Sophie Hinreiner, Grace Yoon, Raoul Heller, Yorck Hellenbroich, Christian A Hübner, Peter N Ray, Ute Hehr, Peter Bauer, Anna Sulek, Christian Beetz. Hum Mutat 2016
Times Cited: 8







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



Times Cited
  Times     Co-cited
Similarity


Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Giovanni Stevanin, Filippo M Santorelli, Hamid Azzedine, Paula Coutinho, Jacques Chomilier, Paola S Denora, Elodie Martin, Anne-Marie Ouvrard-Hernandez, Alessandra Tessa, Naïma Bouslam,[...]. Nat Genet 2007
219
37

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Eleanna Kara, Arianna Tucci, Claudia Manzoni, David S Lynch, Marilena Elpidorou, Conceicao Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A Hamed, Nourelhoda A Haridy,[...]. Brain 2016
95
37

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
37

Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.
Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Gabriel Novaes de Rezende Batistella, Thiago Bortholin, Acary Souza Bulle Oliveira. Cerebellum 2017
99
37

Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.
G Yoon, B Baskin, M Tarnopolsky, K M Boycott, M T Geraghty, E Sell, S Goobie, W Meschino, B Banwell, P N Ray. Neurogenetics 2013
22
25

Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations.
Maria Conceição Pereira, José Leal Loureiro, Jorge Pinto-Basto, Eva Brandão, Ana Margarida Lopes, Georgina Neves, Pureza Dias, Ruth Geraldes, Isabel Pavão Martins, Vitor Tedim Cruz,[...]. Genet Med 2012
18
25

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Giovanni Stevanin, Hamid Azzedine, Paola Denora, Amir Boukhris, Meriem Tazir, Alexander Lossos, Alberto Luis Rosa, Israela Lerer, Abdelmadjid Hamri, Paulo Alegria,[...]. Brain 2008
143
25


Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Gaia Novarino, Ali G Fenstermaker, Maha S Zaki, Matan Hofree, Jennifer L Silhavy, Andrew D Heiberg, Mostafa Abdellateef, Basak Rosti, Eric Scott, Lobna Mansour,[...]. Science 2014
328
25

Clinical and genetic study of hereditary spastic paraplegia in Canada.
Nicolas Chrestian, Nicolas Dupré, Ziv Gan-Or, Anna Szuto, Shiyi Chen, Anil Venkitachalam, Jean-Denis Brisson, Jodi Warman-Chardon, Sohnee Ahmed, Setareh Ashtiani,[...]. Neurol Genet 2016
45
25


Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
David S Lynch, Georgios Koutsis, Arianna Tucci, Marios Panas, Markella Baklou, Marianthi Breza, Georgia Karadima, Henry Houlden. Eur J Hum Genet 2016
25
25

Hereditary spastic paraplegia: More than an upper motor neuron disease.
L Parodi, S Fenu, G Stevanin, A Durr. Rev Neurol (Paris) 2017
39
25

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
Zafar Iqbal, Siri L Rydning, Iselin M Wedding, Jeanette Koht, Lasse Pihlstrøm, Aina H Rengmark, Sandra P Henriksen, Chantal M E Tallaksen, Mathias Toft. PLoS One 2017
32
25

Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals.
Anna Sulek, Ewelina Elert, Marta Rajkiewicz, Elzbieta Zdzienicka, Iwona Stepniak, Wioletta Krysa, Jacek Zaremba. Neurol Sci 2013
20
25

Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.
Daniela Burguez, Márcia Polese-Bonatto, Laís Alves Jacinto Scudeiro, Ingemar Björkhem, Ludger Schöls, Laura Bannach Jardim, Ursula Matte, Maria Luiza Saraiva-Pereira, Marina Siebert, Jonas Alex Morales Saute. J Neurol Sci 2017
26
25

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Luis Ruano, Claudia Melo, M Carolina Silva, Paula Coutinho. Neuroepidemiology 2014
263
25

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
Kishore R Kumar, Nicholas F Blair, Himesha Vandebona, Christina Liang, Karl Ng, David M Sharpe, Anne Grünewald, Uta Gölnitz, Viatcheslav Saviouk, Arndt Rolfs,[...]. J Neurol 2013
36
25

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
Ewelina Elert-Dobkowska, Iwona Stepniak, Wioletta Krysa, Marta Rajkiewicz, Maria Rakowicz, Anna Sobanska, Monika Rudzinska, Anna Wasielewska, Jacek Pilch, Jolanta Kubalska,[...]. J Neurol Sci 2015
15
25

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Tine Holemans, Albena Andreeva, Jennifer Reichbauer, Riet De Rycke, Dae-In Chang,[...]. Brain 2017
81
25

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.
Anne Kjersti Erichsen, Jeanette Koht, Asbjørg Stray-Pedersen, Michael Abdelnoor, Chantal M E Tallaksen. Brain 2009
124
25

Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms.
Temistocle Lo Giudice, Federica Lombardi, Filippo Maria Santorelli, Toshitaka Kawarai, Antonio Orlacchio. Exp Neurol 2014
189
25

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Viviana Pensato, Barbara Castellotti, Cinzia Gellera, Davide Pareyson, Claudia Ciano, Lorenzo Nanetti, Ettore Salsano, Giuseppe Piscosquito, Elisa Sarto, Marica Eoli,[...]. Brain 2014
91
25

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
Bart P van de Warrenburg, Meyke I Schouten, Susanne T de Bot, Sascha Vermeer, Rowdy Meijer, Maartje Pennings, Christian Gilissen, Michèl Aap Willemsen, Hans Scheffer, Erik-Jan Kamsteeg. Eur J Hum Genet 2016
52
25

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Paola S Denora, David Schlesinger, Carlo Casali, Fernando Kok, Alessandra Tessa, Amir Boukhris, Hamid Azzedine, Maria Teresa Dotti, Claudio Bruno, Jeremy Truchetto,[...]. Hum Mutat 2009
49
25

Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase.
Tal Yardeni, Tsering Choekyi, Katherine Jacobs, Carla Ciccone, Katherine Patzel, Yair Anikster, William A Gahl, Natalya Kurochkina, Marjan Huizing. Biochemistry 2011
19
12

Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
Roberto Del Bo, Pierluigi Baron, Alessandro Prelle, Massimo Serafini, Maurizio Moggio, Alessio Di Fonzo, Marina Castagni, Nereo Bresolin, Giacomo Pietro Comi. Muscle Nerve 2003
24
12

Targeted array comparative genomic hybridization--a new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes.
K Kiiski, L Laari, V-L Lehtokari, M Lunkka-Hytönen, C Angelini, R Petty, P Hackman, C Wallgren-Pettersson, K Pelin. Neuromuscul Disord 2013
23
12

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
I Eisenberg, N Avidan, T Potikha, H Hochner, M Chen, T Olender, M Barash, M Shemesh, M Sadeh, G Grabov-Nardini,[...]. Nat Genet 2001
365
12

Decoding NF1 Intragenic Copy-Number Variations.
Meng-Chang Hsiao, Arkadiusz Piotrowski, Tom Callens, Chuanhua Fu, Katharina Wimmer, Kathleen B M Claes, Ludwine Messiaen. Am J Hum Genet 2015
14
12

Mutation update for GNE gene variants associated with GNE myopathy.
Frank V Celeste, Thierry Vilboux, Carla Ciccone, John Karl de Dios, May Christine V Malicdan, Petcharat Leoyklang, John C McKew, William A Gahl, Nuria Carrillo-Carrasco, Marjan Huizing. Hum Mutat 2014
52
12

MFN2 deletion of exons 7 and 8: founder mutation in the UK population.
Aisling S Carr, James M Polke, Jacob Wilson, Ana L Pelayo-Negro, Matilde Laura, Tina Nanji, James Holt, Jennifer Vaughan, Julia Rankin, Mary G Sweeney,[...]. J Peripher Nerv Syst 2015
12
12

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
Feng Zhang, Lorraine Potocki, Jacinda B Sampson, Pengfei Liu, Amarilis Sanchez-Valle, Patricia Robbins-Furman, Alicia Delicado Navarro, Patricia G Wheeler, J Edward Spence, Campbell K Brasington,[...]. Am J Hum Genet 2010
67
12

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).
Anna Cho, Yukiko K Hayashi, Kazunari Monma, Yasushi Oya, Satoru Noguchi, Ikuya Nonaka, Ichizo Nishino. J Neurol Neurosurg Psychiatry 2014
35
12

Copy number variation and mosaicism.
A J Notini, J M Craig, S J White. Cytogenet Genome Res 2008
42
12

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
Lisenka E L M Vissers, Samarth S Bhatt, Irene M Janssen, Zhilian Xia, Seema R Lalani, Rolph Pfundt, Katarzyna Derwinska, Bert B A de Vries, Christian Gilissen, Alexander Hoischen,[...]. Hum Mol Genet 2009
121
12

Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders.
Giulio Piluso, Manuela Dionisi, Francesca Del Vecchio Blanco, Annalaura Torella, Stefania Aurino, Marco Savarese, Teresa Giugliano, Enrico Bertini, Alessandra Terracciano, Mariz Vainzof,[...]. Clin Chem 2011
34
12

Copy number variation in human health, disease, and evolution.
Feng Zhang, Wenli Gu, Matthew E Hurles, James R Lupski. Annu Rev Genomics Hum Genet 2009
701
12

The role of microhomology in genomic structural variation.
Diego Ottaviani, Magdalena LeCain, Denise Sheer. Trends Genet 2014
97
12


Alu elements: know the SINEs.
Prescott Deininger. Genome Biol 2011
285
12

GNE myopathy: new name and new mutation nomenclature.
Marjan Huizing, Nuria Carrillo-Carrasco, May Christine V Malicdan, Satoru Noguchi, William A Gahl, Stella Mitrani-Rosenbaum, Zohar Argov, Ichizo Nishino. Neuromuscul Disord 2014
44
12

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.
Peter Elfferich, Marja C Verleun-Mooijman, J Anneke Maat-Kievit, Bart P C van de Warrenburg, Wilson F Abdo, Sylvia A Eshuis, Klaus L Leenders, Ad Hovestadt, Jan C M Zijlmans, Jan-Pieter M Stroy,[...]. Neurogenetics 2011
10
12

Computational methods for discovering structural variation with next-generation sequencing.
Paul Medvedev, Monica Stanciu, Michael Brudno. Nat Methods 2009
333
12




PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice.
F Baudat, J Buard, C Grey, A Fledel-Alon, C Ober, M Przeworski, G Coop, B de Massy. Science 2010
604
12

Detection of Genomic Structural Variants from Next-Generation Sequencing Data.
Lorenzo Tattini, Romina D'Aurizio, Alberto Magi. Front Bioeng Biotechnol 2015
133
12

Characteristics of de novo structural changes in the human genome.
Wigard P Kloosterman, Laurent C Francioli, Fereydoun Hormozdiari, Tobias Marschall, Jayne Y Hehir-Kwa, Abdel Abdellaoui, Eric-Wubbo Lameijer, Matthijs H Moed, Vyacheslav Koval, Ivo Renkens,[...]. Genome Res 2015
67
12


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.