A citation-based method for searching scientific literature

Anna C Need, Vandana Shashi, Yuki Hitomi, Kelly Schoch, Kevin V Shianna, Marie T McDonald, Miriam H Meisler, David B Goldstein. J Med Genet 2012
Times Cited: 273



Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu, Matthew Hardison, Richard Person, Mir Reza Bekheirnia, Magalie S Leduc, Amelia Kirby, Peter Pham, Jennifer Scull, Min Wang, Yan Ding, Sharon E Plon, James R Lupski, Arthur L Beaudet, Richard A Gibbs, Christine M Eng. N Engl J Med 2013
Times Cited: 1177




List of shared articles



Times cited

Drug Repurposing for Rare Diseases.
Helen I Roessler, Nine V A M Knoers, Mieke M van Haelst, Gijs van Haaften. Trends Pharmacol Sci 2021
2

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.
Leslie Patricia Molina-Ramírez, Claire Kyle, Jamie M Ellingford, Ronnie Wright, Algy Taylor, Sanjeev S Bhaskar, Christopher Campbell, Harriet Jackson, Adele Fairclough, Abigail Rousseau,[...]. J Med Genet 2021
1

Novel missense variant in TTN cosegregating with familial atrioventricular block.
Guohui Liu, Ziying Yang, Weiwei Chen, Junguang Xu, Liangwei Mao, Qinlin Yu, Jian Guo, Hui Xu, Fengxia Liu, Yan Sun,[...]. Eur J Med Genet 2020
1

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Mark N Ziats, Ayesha Ahmad, John A Bernat, Rachel Fisher, Megan Glassford, Mark C Hannibal, Joseph E Jacher, Natasha Weiser, Catherine E Keegan, Kristen N Lee,[...]. Pediatr Res 2020
2

A weighted empirical Bayes risk prediction model using multiple traits.
Gengxin Li, Lin Hou, Xiaoyu Liu, Cen Wu. Stat Appl Genet Mol Biol 2020
0

Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.
Hadley Stevens Smith, J Michael Swint, Seema R Lalani, Jose-Miguel Yamal, Marcia C de Oliveira Otto, Stephan Castellanos, Amy Taylor, Brendan H Lee, Heidi V Russell. Genet Med 2019
37

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Vandana Shashi, Kelly Schoch, Rebecca Spillmann, Heidi Cope, Queenie K-G Tan, Nicole Walley, Loren Pena, Allyn McConkie-Rosell, Yong-Hui Jiang, Nicholas Stong,[...]. Genet Med 2019
27

Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era.
Ellen F Macnamara, Kelly Schoch, Emily G Kelley, Elizabeth Fieg, Elly Brokamp, Rebecca Signer, Kimberly LeBlanc, Allyn McConkie-Rosell, Christina G S Palmer. J Genet Couns 2019
11

New developmental syndromes: Understanding the family experience.
Cara N Inglese, Alison M Elliott, Anna Lehman. J Genet Couns 2019
12

Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases.
Esra Isik, Huseyin Onay, Tahir Atik, Ebru Canda, Ozgur Cogulu, Mahmut Coker, Ferda Ozkinay. Eur J Med Genet 2019
3

NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.
Ana Fernandez-Marmiesse, Sofia Gouveia, Maria L Couce. Curr Med Chem 2018
47

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Loren D M Pena, Yong-Hui Jiang, Kelly Schoch, Rebecca C Spillmann, Nicole Walley, Nicholas Stong, Sarah Rapisardo Horn, Jennifer A Sullivan, Allyn McConkie-Rosell, Sujay Kansagra,[...]. Genet Med 2018
24

Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.
Edward J Romasko, Batsal Devkota, Sawona Biswas, Vijayakumar Jayaraman, Ramakrishnan Rajagopalan, Matthew C Dulik, Christopher S Thom, Jiwon Choi, Sowmya Jairam, Maria I Scarano,[...]. Am J Hematol 2018
15


Genetics of cerebellar disorders.
Enza Maria Valente, Sara Nuovo, Dan Doherty. Handb Clin Neurol 2018
2

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).
Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, Wilfred H S Wong, Mandy H Y Tsang, Mullin H C Yu, Steven L C Pei, K S Yeung, Gary T K Mok, C P Lee,[...]. BMC Med Genomics 2018
15

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
Z Fattahi, Z Kalhor, M Fadaee, R Vazehan, E Parsimehr, A Abolhassani, M Beheshtian, G Zamani, S Nafissi, Y Nilipour,[...]. Clin Genet 2017
22

mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications.
Zhongshan Li, Zhenwei Liu, Yi Jiang, Denghui Chen, Xia Ran, Zhong Sheng Sun, Jinyu Wu. Hum Mutat 2017
2