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



Melanie Bahlo, Mark F Bennett, Peter Degorski, Rick M Tankard, Martin B Delatycki, Paul J Lockhart. F1000Res 2018
Times Cited: 31




List of shared articles



Times cited

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.
Dhamidhu Eratne, Amy Schneider, Ella Lynch, Melissa Martyn, Dennis Velakoulis, Michael Fahey, Patrick Kwan, Richard Leventer, Haloom Rafehi, Belinda Chong,[...]. J Neurol Sci 2021
2

Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease.
Dale J Annear, Geert Vandeweyer, Ellen Elinck, Alba Sanchis-Juan, Courtney E French, Lucy Raymond, R Frank Kooy. Sci Rep 2021
1

Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Elaine Spector, Andrea Behlmann, Kathryn Kronquist, Nancy C Rose, Elaine Lyon, Honey V Reddi. Genet Med 2021
1

Characterization and application of fluidic properties of trinucleotide repeat sequences by wax-on-plastic microfluidics.
Ahmad Zaman Qamar, Narges Asefifeyzabadi, Motahareh Taki, Swati Naphade, Lisa M Ellerby, Mohtashim Hassan Shamsi. J Mater Chem B 2020
3

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.
Mark F Bennett, Karen L Oliver, Brigid M Regan, Susannah T Bellows, Amy L Schneider, Haloom Rafehi, Neblina Sikta, Douglas E Crompton, Matthew Coleman, Michael S Hildebrand,[...]. Eur J Hum Genet 2020
5

Comparison of NGS panel and Sanger sequencing for genotyping CAG repeats in the AR gene.
Maria Santa Rocca, Margherita Ferrarini, Aichi Msaki, Cinzia Vinanzi, Marco Ghezzi, Maurizio De Rocco Ponce, Carlo Foresta, Alberto Ferlin. Mol Genet Genomic Med 2020
2

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

Genome-wide detection of tandem DNA repeats that are expanded in autism.
Brett Trost, Worrawat Engchuan, Charlotte M Nguyen, Bhooma Thiruvahindrapuram, Egor Dolzhenko, Ian Backstrom, Mila Mirceta, Bahareh A Mojarad, Yue Yin, Alona Dov,[...]. Nature 2020
34

Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review.
Luiz Eduardo Novis, Mariana Spitz, Marcia Jardim, Salmo Raskin, Hélio A G Teive. Arq Neuropsiquiatr 2020
0

Large scale in silico characterization of repeat expansion variation in human genomes.
Sarah Fazal, Matt C Danzi, Vivian P Cintra, Dana M Bis-Brewer, Egor Dolzhenko, Michael A Eberle, Stephan Zuchner. Sci Data 2020
1

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
55

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Rahel T Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder,[...]. Nat Commun 2019
38