A citation-based method for searching scientific literature

Mohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, Jill A Rosenfeld, Tomasz Gambin, Asbjørg Stray-Pedersen, Sébastien Küry, Sandra Mercier, Davor Lessel, Jonas Denecke, Wojciech Wiszniewski, Samantha Penney, Pengfei Liu, Weimin Bi, Seema R Lalani, Christian P Schaaf, Michael F Wangler, Carlos A Bacino, Richard Alan Lewis, Lorraine Potocki, Brett H Graham, John W Belmont, Fernando Scaglia, Jordan S Orange, Shalini N Jhangiani, Theodore Chiang, Harsha Doddapaneni, Jianhong Hu, Donna M Muzny, Fan Xia, Arthur L Beaudet, Eric Boerwinkle, Christine M Eng, Sharon E Plon, V Reid Sutton, Richard A Gibbs, Jennifer E Posey, Yaping Yang, James R Lupski. Genome Med 2017
Times Cited: 111



S L Sawyer, T Hartley, D A Dyment, C L Beaulieu, J Schwartzentruber, A Smith, H M Bedford, G Bernard, F P Bernier, B Brais, D E Bulman, J Warman Chardon, D Chitayat, J Deladoëy, B A Fernandez, P Frosk, M T Geraghty, B Gerull, W Gibson, R M Gow, G E Graham, J S Green, E Heon, G Horvath, A M Innes, N Jabado, R H Kim, R K Koenekoop, A Khan, O J Lehmann, R Mendoza-Londono, J L Michaud, S M Nikkel, L S Penney, C Polychronakos, J Richer, G A Rouleau, M E Samuels, V M Siu, O Suchowersky, M A Tarnopolsky, G Yoon, F R Zahir, J Majewski, K M Boycott. Clin Genet 2016
Times Cited: 206




List of shared articles



Times cited

Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing.
Chiara Di Resta, Giovanni Battista Pipitone, Paola Carrera, Maurizio Ferrari. Neural Regen Res 2021
2


Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
Frederic Tran Mau-Them, Sebastien Moutton, Caroline Racine, Antonio Vitobello, Ange-Line Bruel, Sophie Nambot, Steven A Kushner, Femke M S de Vrij, Daphné Lehalle, Nolwenn Jean-Marçais,[...]. Hum Genet 2020
2

Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases.
Mengge Zhao, James M Havrilla, Li Fang, Ying Chen, Jacqueline Peng, Cong Liu, Chao Wu, Mahdi Sarmady, Pablo Botas, Julián Isla,[...]. NAR Genom Bioinform 2020
9

Insights into genetics, human biology and disease gleaned from family based genomic studies.
Jennifer E Posey, Anne H O'Donnell-Luria, Jessica X Chong, Tamar Harel, Shalini N Jhangiani, Zeynep H Coban Akdemir, Steven Buyske, Davut Pehlivan, Claudia M B Carvalho, Samantha Baxter,[...]. Genet Med 2019
68

Exome Sequencing in Children.
Elisa A Mahler, Jessika Johannsen, Konstantinos Tsiakas, Katja Kloth, Sabine Lüttgen, Chris Mühlhausen, Bader Alhaddad, Tobias B Haack, Tim M Strom, Fanny Kortüm,[...]. Dtsch Arztebl Int 2019
11

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
John Taylor, Jude Craft, Edward Blair, Sarah Wordsworth, David Beeson, Saleel Chandratre, Judith Cossins, Tracy Lester, Andrea H Németh, Elizabeth Ormondroyd,[...]. Genome Med 2019
12

Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.
Oliver James Dillon, Sebastian Lunke, Zornitza Stark, Alison Yeung, Natalie Thorne, Clara Gaff, Susan M White, Tiong Yang Tan. Eur J Hum Genet 2018
50

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Lisa J Ewans, Deborah Schofield, Rupendra Shrestha, Ying Zhu, Velimir Gayevskiy, Kevin Ying, Corrina Walsh, Eric Lee, Edwin P Kirk, Alison Colley,[...]. Genet Med 2018
64

Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.
Jung Hoon Son, Gangcai Xie, Chi Yuan, Lyudmila Ena, Ziran Li, Andrew Goldstein, Lulin Huang, Liwei Wang, Feichen Shen, Hongfang Liu,[...]. Am J Hum Genet 2018
46

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.
Michelle M Clark, Zornitza Stark, Lauge Farnaes, Tiong Y Tan, Susan M White, David Dimmock, Stephen F Kingsmore. NPJ Genom Med 2018
174