A citation-based method for searching scientific literature

Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay, Narayanan Veeraraghavan, Alicia Hawes, Theodore Chiang, Magalie Leduc, Joke Beuten, Jing Zhang, Weimin He, Jennifer Scull, Alecia Willis, Megan Landsverk, William J Craigen, Mir Reza Bekheirnia, Asbjorg Stray-Pedersen, Pengfei Liu, Shu Wen, Wendy Alcaraz, Hong Cui, Magdalena Walkiewicz, Jeffrey Reid, Matthew Bainbridge, Ankita Patel, Eric Boerwinkle, Arthur L Beaudet, James R Lupski, Sharon E Plon, Richard A Gibbs, Christine M Eng. JAMA 2014
Times Cited: 860



Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
Times Cited: 1052




List of shared articles



Times cited

PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning.
Zefu Chen, Yu Zheng, Yongxin Yang, Yingzhao Huang, Sen Zhao, Hengqiang Zhao, Chenxi Yu, Xiying Dong, Yuanqiang Zhang, Lianlei Wang,[...]. Am J Hum Genet 2022
0

Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Eliete da S Rodrigues, Sean Griffith, Renan Martin, Corina Antonescu, Jennifer E Posey, Zeynep Coban-Akdemir, Shalini N Jhangiani, Kimberly F Doheny, James R Lupski, David Valle,[...]. Hum Mutat 2022
1

PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
Chiara Rasi, Daniel Nilsson, Måns Magnusson, Nicole Lesko, Kristina Lagerstedt-Robinson, Anna Wedell, Anna Lindstrand, Valtteri Wirta, Henrik Stranneheim. Hum Mutat 2022
1


Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
David A Dyment, Anne O'Donnell-Luria, Pankaj B Agrawal, Zeynep Coban Akdemir, Kyrieckos A Aleck, Danny Antaki, Hind Al Sharhan, Ping-Yee B Au, Hatip Aydin, Alan H Beggs,[...]. Am J Med Genet A 2021
4

Improving diagnostics of rare genetic diseases with NGS approaches.
Mateja Vinkšel, Karin Writzl, Aleš Maver, Borut Peterlin. J Community Genet 2021
4

Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Jill A Rosenfeld, Rui Xiao, Mir Reza Bekheirnia, Farah Kanani, Michael J Parker, Mary K Koenig, Arie van Haeringen, Claudia Ruivenkamp, Joana Rosmaninho-Salgado, Pedro M Almeida,[...]. Am J Med Genet A 2021
2

Next-generation sequencing and the evolution of data sharing.
Nara Lygia de Macena Sobreira, Ada Hamosh. Am J Med Genet A 2021
2