A citation-based method for searching scientific literature

S E McCarthy, J Gillis, M Kramer, J Lihm, S Yoon, Y Berstein, M Mistry, P Pavlidis, R Solomon, E Ghiban, E Antoniou, E Kelleher, C O'Brien, G Donohoe, M Gill, D W Morris, W R McCombie, A Corvin. Mol Psychiatry 2014
Times Cited: 229



B J O'Roak, H A Stessman, E A Boyle, K T Witherspoon, B Martin, C Lee, L Vives, C Baker, J B Hiatt, D A Nickerson, R Bernier, J Shendure, E E Eichler. Nat Commun 2014
Times Cited: 188




List of shared articles



Times cited

De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
Yu An, Linna Zhang, Wenwen Liu, Yunyun Jiang, Xue Chen, Xiaoping Lan, Gan Li, Qiang Hang, Jian Wang, James F Gusella,[...]. Hum Genet 2020
10

A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome.
C Y Lee, M Petkova, S Morales-Gonzalez, N Gimber, J Schmoranzer, A Meisel, W Böhmerle, W Stenzel, M Schuelke, J M Schwarz. Neuropathol Appl Neurobiol 2020
1

Regulatory genes and pathways disrupted in autism spectrum disorders.
Fatma Ayhan, Genevieve Konopka. Prog Neuropsychopharmacol Biol Psychiatry 2019
10


Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms.
Rebecca L Walker, Gokul Ramaswami, Christopher Hartl, Nicholas Mancuso, Michael J Gandal, Luis de la Torre-Ubieta, Bogdan Pasaniuc, Jason L Stein, Daniel H Geschwind. Cell 2019
44

Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders.
Julie Chow, Matthew Jensen, Hajar Amini, Farhad Hormozdiari, Osnat Penn, Sagiv Shifman, Santhosh Girirajan, Fereydoun Hormozdiari. Genome Med 2019
7

Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing.
Zi-Bing Jin, Zhongshan Li, Zhenwei Liu, Yi Jiang, Xue-Bi Cai, Jinyu Wu. Biol Rev Camb Philos Soc 2018
17

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
Sandra Jansen, Alexander Hoischen, Bradley P Coe, Gemma L Carvill, Hilde Van Esch, Daniëlle G M Bosch, Ulla A Andersen, Carl Baker, Marijke Bauters, Raphael A Bernier,[...]. Eur J Hum Genet 2018
15

De novo mutation in RING1 with epigenetic effects on neurodevelopment.
Sarah B Pierce, Mikaela D Stewart, Suleyman Gulsuner, Tom Walsh, Abhinav Dhall, Jon M McClellan, Rachel E Klevit, Mary-Claire King. Proc Natl Acad Sci U S A 2018
11