A citation-based method for searching scientific literature

Andrew Mundwiler, Vikram G Shakkottai. Handb Clin Neurol 2018
Times Cited: 17







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



Times Cited
  Times     Co-cited
Similarity


Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
Brent L Fogel, Hane Lee, Joshua L Deignan, Samuel P Strom, Sibel Kantarci, Xizhe Wang, Fabiola Quintero-Rivera, Eric Vilain, Wayne W Grody, Susan Perlman,[...]. JAMA Neurol 2014
166
35

Autosomal-recessive cerebellar ataxias.
Brent L Fogel. Handb Clin Neurol 2018
12
25

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

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
Esther A R Nibbeling, Anna Duarri, Corien C Verschuuren-Bemelmans, Michiel R Fokkens, Juha M Karjalainen, Cleo J L M Smeets, Jelkje J de Boer-Bergsma, Gerben van der Vries, Dennis Dooijes, Giovana B Bampi,[...]. Brain 2017
65
17

Autosomal dominant cerebellar ataxias: a systematic review of clinical features.
M Rossi, S Perez-Lloret, L Doldan, D Cerquetti, J Balej, P Millar Vernetti, H Hawkes, A Cammarota, M Merello. Eur J Neurol 2014
76
17

A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.
Mohammad A Al-Muhaizea, Faten AlMutairi, Rawan Almass, Safinaz AlHarthi, Mazhor S Aldosary, Maysoon Alsagob, Ali AlOdaib, Dilek Colak, Namik Kaya. Cerebellum 2018
14
21

Repeat expansion diseases.
Henry Paulson. Handb Clin Neurol 2018
134
17

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcova, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James Polke,[...]. Nat Genet 2019
164
17

Recessive ataxias.
Matthis Synofzik, Andrea H Németh. Handb Clin Neurol 2018
44
17


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
17

Spinocerebellar ataxia: an update.
Roisin Sullivan, Wai Yan Yau, Emer O'Connor, Henry Houlden. J Neurol 2019
75
17

Spinocerebellar ataxia.
Thomas Klockgether, Caterina Mariotti, Henry L Paulson. Nat Rev Dis Primers 2019
185
17

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Eunju Seong, Ryan Insolera, Marija Dulovic, Erik-Jan Kamsteeg, Joanne Trinh, Norbert Brüggemann, Erin Sandford, Sheng Li, Ayse Bilge Ozel, Jun Z Li,[...]. Ann Neurol 2018
75
11

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Suzanne Lesage, Valérie Drouet, Elisa Majounie, Vincent Deramecourt, Maxime Jacoupy, Aude Nicolas, Florence Cormier-Dequaire, Sidi Mohamed Hassoun, Claire Pujol, Sorana Ciura,[...]. Am J Hum Genet 2016
212
11

Vps13D Encodes a Ubiquitin-Binding Protein that Is Required for the Regulation of Mitochondrial Size and Clearance.
Allyson L Anding, Chunxin Wang, Tsun-Kai Chang, Danielle A Sliter, Christine M Powers, Kay Hofmann, Richard J Youle, Eric H Baehrecke. Curr Biol 2018
80
11

Analysis of the human VPS13 gene family.
Antonio Velayos-Baeza, Andrea Vettori, Richard R Copley, Carol Dobson-Stone, A P Monaco. Genomics 2004
141
11

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
Kelly D Farwell, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Elizabeth C Chao, Brigette Tippin Davis, Ruth M Baxter, Wenqi Zeng, Cameron Mroske, Melissa C Parra,[...]. Genet Med 2015
313
11

Recessive mutations in VPS13D cause childhood onset movement disorders.
Julie Gauthier, Inge A Meijer, Davor Lessel, Niccolò E Mencacci, Dimitri Krainc, Maja Hempel, Konstantinos Tsiakas, Holger Prokisch, Elsa Rossignol, Margaret H Helm,[...]. Ann Neurol 2018
61
11

Exome sequencing in undiagnosed inherited and sporadic ataxias.
Angela Pyle, Tania Smertenko, David Bargiela, Helen Griffin, Jennifer Duff, Marie Appleton, Konstantinos Douroudis, Gerald Pfeffer, Mauro Santibanez-Koref, Gail Eglon,[...]. Brain 2015
91
11

Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways.
Emma Perkins, Daumante Suminaite, Mandy Jackson. J Physiol 2016
20
11

A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study.
Ying Wang, Kishin Koh, Michiaki Miwa, Nobuo Yamashiro, Kazumasa Shindo, Yoshihisa Takiyama. J Hum Genet 2014
17
11

De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Ricardo Parolin Schnekenberg, Emma M Perkins, Jack W Miller, Wayne I L Davies, Maria Cristina D'Adamo, Mauro Pessia, Katherine A Fawcett, David Sims, Elodie Gillard, Karl Hudspith,[...]. Brain 2015
96
11

Case of infantile onset spinocerebellar ataxia type 5.
Francois-Dominique Jacob, Eugenia S Ho, Mayra Martinez-Ojeda, Basil T Darras, Omar S Khwaja. J Child Neurol 2013
27
11


Spectrin mutations cause spinocerebellar ataxia type 5.
Yoshio Ikeda, Katherine A Dick, Marcy R Weatherspoon, Dan Gincel, Karen R Armbrust, Joline C Dalton, Giovanni Stevanin, Alexandra Dürr, Christine Zühlke, Katrin Bürk,[...]. Nat Genet 2006
249
11

Polyglutamine spinocerebellar ataxias - from genes to potential treatments.
Henry L Paulson, Vikram G Shakkottai, H Brent Clark, Harry T Orr. Nat Rev Neurosci 2017
150
11

Hereditary ataxias and paraparesias: clinical and genetic update.
Livia Parodi, Giulia Coarelli, Giovanni Stevanin, Alexis Brice, Alexandra Durr. Curr Opin Neurol 2018
54
11

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
58
11

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
11

Spinocerebellar ataxias: prospects and challenges for therapy development.
Tetsuo Ashizawa, Gülin Öz, Henry L Paulson. Nat Rev Neurol 2018
92
11

Scale for the assessment and rating of ataxia: development of a new clinical scale.
T Schmitz-Hübsch, S Tezenas du Montcel, L Baliko, J Berciano, S Boesch, C Depondt, P Giunti, C Globas, J Infante, J-S Kang,[...]. Neurology 2006
11


Molecular genetic testing for hereditary ataxia: What every neurologist should know.
Stephanie E Wallace, Thomas D Bird. Neurol Clin Pract 2018
11
18

Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.
Masayuki Sasaki, Chihiro Ohba, Mizue Iai, Shinichi Hirabayashi, Hitoshi Osaka, Takuya Hiraide, Hirotomo Saitsu, Naomichi Matsumoto. J Neurol 2015
45
11



De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.
Matthis Synofzik, Katherine L Helbig, Florian Harmuth, Tine Deconinck, Pranoot Tanpaiboon, Bo Sun, Wenting Guo, Ruiwu Wang, Erika Palmaer, Sha Tang,[...]. Eur J Hum Genet 2018
22
11

A framework for variation discovery and genotyping using next-generation DNA sequencing data.
Mark A DePristo, Eric Banks, Ryan Poplin, Kiran V Garimella, Jared R Maguire, Christopher Hartl, Anthony A Philippakis, Guillermo del Angel, Manuel A Rivas, Matt Hanna,[...]. Nat Genet 2011
11

The variant call format and VCFtools.
Petr Danecek, Adam Auton, Goncalo Abecasis, Cornelis A Albers, Eric Banks, Mark A DePristo, Robert E Handsaker, Gerton Lunter, Gabor T Marth, Stephen T Sherry,[...]. Bioinformatics 2011
11

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
Jessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B Everman, Lee M Frazer, Michael T Geraghty, Amy D Harper, Julie R Jones, Benjamin Kamien, Kristin Kernohan,[...]. Orphanet J Rare Dis 2017
29
11

The Sequence Alignment/Map format and SAMtools.
Heng Li, Bob Handsaker, Alec Wysoker, Tim Fennell, Jue Ruan, Nils Homer, Gabor Marth, Goncalo Abecasis, Richard Durbin. Bioinformatics 2009
11

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
11

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Haloom Rafehi, David J Szmulewicz, Mark F Bennett, Nara L M Sobreira, Kate Pope, Katherine R Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A Eberle,[...]. Am J Hum Genet 2019
72
11

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
Ana I Seixas, Joana R Loureiro, Cristina Costa, Andrés Ordóñez-Ugalde, Hugo Marcelino, Cláudia L Oliveira, José L Loureiro, Ashutosh Dhingra, Eva Brandão, Vitor T Cruz,[...]. Am J Hum Genet 2017
60
11

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
35
11

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
Joyce van de Leemput, Jayanth Chandran, Melanie A Knight, Lynne A Holtzclaw, Sonja Scholz, Mark R Cookson, Henry Houlden, Katrina Gwinn-Hardy, Hon-Chung Fung, Xian Lin,[...]. PLoS Genet 2007
204
11

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Miao Sun, Amy Knight Johnson, Viswateja Nelakuditi, Lucia Guidugli, David Fischer, Kelly Arndt, Lan Ma, Erin Sandford, Vikram Shakkottai, Kym Boycott,[...]. Genet Med 2019
35
11

Cerebellar ataxias.
Mario Manto, Daniele Marmolino. Curr Opin Neurol 2009
108
11

Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias.
Ronald A M Buijsen, Lodewijk J A Toonen, Sarah L Gardiner, Willeke M C van Roon-Mom. Neurotherapeutics 2019
56
11


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.