A citation-based method for searching scientific literature

Egor Dolzhenko, Joke J F A van Vugt, Richard J Shaw, Mitchell A Bekritsky, Marka van Blitterswijk, Giuseppe Narzisi, Subramanian S Ajay, Vani Rajan, Bryan R Lajoie, Nathan H Johnson, Zoya Kingsbury, Sean J Humphray, Raymond D Schellevis, William J Brands, Matt Baker, Rosa Rademakers, Maarten Kooyman, Gijs H P Tazelaar, Michael A van Es, Russell McLaughlin, William Sproviero, Aleksey Shatunov, Ashley Jones, Ahmad Al Khleifat, Alan Pittman, Sarah Morgan, Orla Hardiman, Ammar Al-Chalabi, Chris Shaw, Bradley Smith, Edmund J Neo, Karen Morrison, Pamela J Shaw, Catherine Reeves, Lara Winterkorn, Nancy S Wexler, David E Housman, Christopher W Ng, Alina L Li, Ryan J Taft, Leonard H van den Berg, David R Bentley, Jan H Veldink, Michael A Eberle. Genome Res 2017
Times Cited: 116



Rahel T Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D M Avarello, Lisanne S Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F Bennett, Melanie Bahlo, Jozef Gecz, Mark A Corbett, Marina A J Tijssen, Arn M J M van den Maagdenberg, Christel Depienne. Nat Commun 2019
Times Cited: 38




List of shared articles



Times cited


Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Carolina Courage, Karen L Oliver, Eon Joo Park, Jillian M Cameron, Kariona A Grabińska, Mikko Muona, Laura Canafoglia, Antonio Gambardella, Edith Said, Zaid Afawi,[...]. Am J Hum Genet 2021
3


An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.
Sanjog R Chintalaphani, Sandy S Pineda, Ira W Deveson, Kishore R Kumar. Acta Neuropathol Commun 2021
1

Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions.
Indhu-Shree Rajan-Babu, Junran J Peng, Readman Chiu, Chenkai Li, Arezoo Mohajeri, Egor Dolzhenko, Michael A Eberle, Inanc Birol, Jan M Friedman. Genome Med 2021
2

The Genetics of Epilepsy.
Piero Perucca, Melanie Bahlo, Samuel F Berkovic. Annu Rev Genomics Hum Genet 2020
13

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.
Egor Dolzhenko, Mark F Bennett, Phillip A Richmond, Brett Trost, Sai Chen, Joke J F A van Vugt, Charlotte Nguyen, Giuseppe Narzisi, Vladimir G Gainullin, Andrew M Gross,[...]. Genome Biol 2020
14

Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three-Generation Family Using Short-Read Whole-Genome Sequencing Data.
Haloom Rafehi, David J Szmulewicz, Kate Pope, Mathew Wallis, John Christodoulou, Susan M White, Martin B Delatycki, Paul J Lockhart, Melanie Bahlo. Mov Disord 2020
1

Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the SAMD12 gene.
Radha Mahadevan, Rahul C Bhoyar, Natarajan Viswanathan, Raskin Erusan Rajagopal, Bobby Essaki, Varun Suroliya, Rachel Chelladurai, Saravanan Sankaralingam, Ganesan Shanmugam, Sriramakrishnan Vayanakkan,[...]. Brain Commun 2020
1

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa,[...]. Nat Commun 2019
30