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: 117



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, María García Barcina, David P Breen, Andrew M Chancellor, Phillip D Cremer, Martin B Delatycki, Brent L Fogel, Anna Hackett, G Michael Halmagyi, Solange Kapetanovic, Anthony Lang, Stuart Mossman, Weiyi Mu, Peter Patrikios, Susan L Perlman, Ian Rosemergy, Elsdon Storey, Shaun R D Watson, Michael A Wilson, David S Zee, David Valle, David J Amor, Melanie Bahlo, Paul J Lockhart. Am J Hum Genet 2019
Times Cited: 55




List of shared articles



Times cited

CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions.
Natalia Dominik, Valentina Galassi Deforie, Andrea Cortese, Henry Houlden. J Neurol 2021
1

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


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
2

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

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

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
35