A citation-based method for searching scientific literature

Brian J O'Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D Smith, Emily H Turner, Ian B Stanaway, Benjamin Vernot, Maika Malig, Carl Baker, Beau Reilly, Joshua M Akey, Elhanan Borenstein, Mark J Rieder, Deborah A Nickerson, Raphael Bernier, Jay Shendure, Evan E Eichler. Nature 2012
Times Cited: 1365



Holly A F Stessman, Bo Xiong, Bradley P Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fenckova, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N Turner, Gijs Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt, Christopher Barnett, Eric Haan, Marie Shaw, Jozef Gecz, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Charles Schwartz, R Frank Kooy, Geert Vandeweyer, Celine Helsmoortel, Corrado Romano, Antonino Alberti, Mirella Vinci, Emanuela Avola, Stefania Giusto, Eric Courchesne, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, David G Amaral, Ingrid E Scheffer, Martin B Delatycki, Paul J Lockhart, Fereydoun Hormozdiari, Benjamin Harich, Anna Castells-Nobau, Kun Xia, Hilde Peeters, Magnus Nordenskjöld, Annette Schenck, Raphael A Bernier, Evan E Eichler. Nat Genet 2017
Times Cited: 219




List of shared articles



Times cited

A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder.
Sota Iwafuchi, Atsuo Kikuchi, Wakaba Endo, Takehiko Inui, Yu Aihara, Kazuhito Satou, Tadashi Kaname, Shigeo Kure. Brain Dev 2021
0

Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations.
Evangeline C Kurtz-Nelson, See Wan Tham, Kaitlyn Ahlers, Daniel Cho, Arianne S Wallace, Evan E Eichler, Raphael A Bernier, Rachel K Earl. J Autism Dev Disord 2021
1

Chromatin Remodeler CHD8 in Autism and Brain Development.
Anke Hoffmann, Dietmar Spengler. J Clin Med 2021
2

Alternatively Splicing Interactomes Identify Novel Isoform-Specific Partners for NSD2.
Weidi Wang, Yucan Chen, Jingjing Zhao, Liang Chen, Weichen Song, Li Li, Guan Ning Lin. Front Cell Dev Biol 2021
0

Single-Cell Transcriptomics Supports a Role of CHD8 in Autism.
Anke Hoffmann, Dietmar Spengler. Int J Mol Sci 2021
0

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Madelyn A Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N Kim, Bert B A De Vries, Lisenka E L M Vissers, Magnus Nordenskjold,[...]. Genome Med 2021
0

Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes.
Tao Wang, Yi Zhang, Liqui Liu, Yan Wang, Huiqian Chen, Tianda Fan, Jinchen Li, Kun Xia, Zhongsheng Sun. J Genet Genomics 2021
0


The Mammalian Family of Katanin Microtubule-Severing Enzymes.
Nicole A Lynn, Emily Martinez, Hieu Nguyen, Jorge Z Torres. Front Cell Dev Biol 2021
0

Behavioral, circuitry, and molecular aberrations by region-specific deficiency of the high-risk autism gene Cul3.
Maximiliano Rapanelli, Tao Tan, Wei Wang, Xue Wang, Zi-Jun Wang, Ping Zhong, Luciana Frick, Luye Qin, Kaijie Ma, Jun Qu,[...]. Mol Psychiatry 2021
14


Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.
Alexander J M Dingemans, Diante E Stremmelaar, Lisenka E L M Vissers, Sandra Jansen, Maria J Nabais Sá, Angela van Remortele, Noraly Jonis, Kim Truijen, Sam van de Ven, Jeroen Ewals,[...]. Am J Med Genet A 2021
2

An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
Cinzia Cameli, Marta Viggiano, Magali J Rochat, Alessandra Maresca, Leonardo Caporali, Claudio Fiorini, Flavia Palombo, Pamela Magini, Renée C Duardo, Fabiola Ceroni,[...]. J Cell Mol Med 2021
1

Distinct, dosage-sensitive requirements for the autism-associated factor CHD8 during cortical development.
Shaun Hurley, Conor Mohan, Philipp Suetterlin, Robert Ellingford, Kimberley L H Riegman, Jacob Ellegood, Angela Caruso, Caterina Michetti, Olivier Brock, Romy Evans,[...]. Mol Autism 2021
0

Chromatin remodelling complexes in cerebral cortex development and neurodevelopmental disorders.
Leora D'Souza, Asha S Channakkar, Bhavana Muralidharan. Neurochem Int 2021
0

Systematic phenomics analysis of autism-associated genes reveals parallel networks underlying reversible impairments in habituation.
Troy A McDiarmid, Manuel Belmadani, Joseph Liang, Fabian Meili, Eleanor A Mathews, Gregory P Mullen, Ardalan Hendi, Wan-Rong Wong, James B Rand, Kota Mizumoto,[...]. Proc Natl Acad Sci U S A 2020
11

Genetic evidence of gender difference in autism spectrum disorder supports the female-protective effect.
Yi Zhang, Na Li, Chao Li, Ze Zhang, Huajing Teng, Yan Wang, Tingting Zhao, Leisheng Shi, Kun Zhang, Kun Xia,[...]. Transl Psychiatry 2020
13