A citation-based method for searching scientific literature

Bradley P Coe, Kali Witherspoon, Jill A Rosenfeld, Bregje W M van Bon, Anneke T Vulto-van Silfhout, Paolo Bosco, Kathryn L Friend, Carl Baker, Serafino Buono, Lisenka E L M Vissers, Janneke H Schuurs-Hoeijmakers, Alex Hoischen, Rolph Pfundt, Nik Krumm, Gemma L Carvill, Deana Li, David Amaral, Natasha Brown, Paul J Lockhart, Ingrid E Scheffer, Antonino Alberti, Marie Shaw, Rosa Pettinato, Raymond Tervo, Nicole de Leeuw, Margot R F Reijnders, Beth S Torchia, Hilde Peeters, Brian J O'Roak, Marco Fichera, Jayne Y Hehir-Kwa, Jay Shendure, Heather C Mefford, Eric Haan, Jozef Gécz, Bert B A de Vries, Corrado Romano, Evan E Eichler. Nat Genet 2014
Times Cited: 323







List of co-cited articles
549 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity



Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
Heather C Mefford, Jill A Rosenfeld, Natasha Shur, Anne M Slavotinek, Victoria A Cox, Raoul C Hennekam, Helen V Firth, Lionel Willatt, Patricia Wheeler, Eric M Morrow,[...]. J Med Genet 2012
29
6

CTCF: master weaver of the genome.
Jennifer E Phillips, Victor G Corces. Cell 2009
2

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
Daphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, Odile Boute-Benejean, Perrine Charles, Megan T Cho, Amanda Clarkson, Orrin Devinsky, Yannis Duffourd, Laurence Duplomb-Jego,[...]. J Med Genet 2017
17
11

Enhancer biology and enhanceropathies.
Edwin Smith, Ali Shilatifard. Nat Struct Mol Biol 2014
158
2

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
Asli Sirmaci, Michail Spiliopoulos, Francesco Brancati, Eric Powell, Duygu Duman, Alex Abrams, Guney Bademci, Emanuele Agolini, Shengru Guo, Berrin Konuk,[...]. Am J Hum Genet 2011
139
2

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
H Hu, S A Haas, J Chelly, H Van Esch, M Raynaud, A P M de Brouwer, S Weinert, G Froyen, S G M Frints, F Laumonnier,[...]. Mol Psychiatry 2016
152
2

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.
Stephen R Williams, Micheala A Aldred, Vazken M Der Kaloustian, Fahed Halal, Gordon Gowans, D Ross McLeod, Sara Zondag, Helga V Toriello, R Ellen Magenis, Sarah H Elsea. Am J Hum Genet 2010
186
2

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Patricia Fergelot, Martine Van Belzen, Julien Van Gils, Alexandra Afenjar, Christine M Armour, Benoit Arveiler, Lex Beets, Lydie Burglen, Tiffany Busa, Marie Collet,[...]. Am J Med Genet A 2016
52
3


YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Michele Gabriele, Anneke T Vulto-van Silfhout, Pierre-Luc Germain, Alessandro Vitriolo, Raman Kumar, Evelyn Douglas, Eric Haan, Kenjiro Kosaki, Toshiki Takenouchi, Anita Rauch,[...]. Am J Hum Genet 2017
54
3

Chromatin Domains: The Unit of Chromosome Organization.
Jesse R Dixon, David U Gorkin, Bing Ren. Mol Cell 2016
322
2

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Valerie A Arboleda, Hane Lee, Naghmeh Dorrani, Neda Zadeh, Mary Willis, Colleen Forsyth Macmurdo, Melanie A Manning, Andrea Kwan, Louanne Hudgins, Florian Barthelemy,[...]. Am J Hum Genet 2015
66
3

De novo mutations in the genome organizer CTCF cause intellectual disability.
Anne Gregor, Martin Oti, Evelyn N Kouwenhoven, Juliane Hoyer, Heinrich Sticht, Arif B Ekici, Susanne Kjaergaard, Anita Rauch, Hendrik G Stunnenberg, Steffen Uebe,[...]. Am J Hum Genet 2013
82
2

Familial KANK1 deletion that does not follow expected imprinting pattern.
Rena J Vanzo, Megan M Martin, Mallory R Sdano, Sarah T South. Eur J Med Genet 2013
13
15

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.
Mohammed Uddin, Kristiina Tammimies, Giovanna Pellecchia, Babak Alipanahi, Pingzhao Hu, Zhuozhi Wang, Dalila Pinto, Lynette Lau, Thomas Nalpathamkalam, Christian R Marshall,[...]. Nat Genet 2014
99
2

Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.
Israela Lerer, Michal Sagi, Vardiella Meiner, Tirza Cohen, Joel Zlotogora, Dvorah Abeliovich. Hum Mol Genet 2005
84
2

Copy number variations in cryptogenic cerebral palsy.
Reeval Segel, Hilla Ben-Pazi, Sharon Zeligson, Aviva Fatal-Valevski, Adi Aran, Varda Gross-Tsur, Nira Schneebaum-Sender, Dorit Shmueli, Dorit Lev, Shira Perlberg,[...]. Neurology 2015
42
4

Clinically relevant copy number variations detected in cerebral palsy.
Maryam Oskoui, Matthew J Gazzellone, Bhooma Thiruvahindrapuram, Mehdi Zarrei, John Andersen, John Wei, Zhuozhi Wang, Richard F Wintle, Christian R Marshall, Ronald D Cohn,[...]. Nat Commun 2015
76
2

Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders.
Joseph T Glessner, Jin Li, Dai Wang, Michael March, Leandro Lima, Akshatha Desai, Dexter Hadley, Charlly Kao, Raquel E Gur, Nadine Cohen,[...]. Genome Med 2017
21
9

Kank proteins: structure, functions and diseases.
N Kakinuma, Y Zhu, Y Wang, B C Roy, R Kiyama. Cell Mol Life Sci 2009
59
3


Mechanical model of brain convolutional development.
D P Richman, R M Stewart, J W Hutchinson, V S Caviness. Science 1975
339
2

Abnormal functional connectivity in autism spectrum disorders during face processing.
Natalia M Kleinhans, Todd Richards, Lindsey Sterling, Keith C Stegbauer, Roderick Mahurin, L Clark Johnson, Jessica Greenson, Geraldine Dawson, Elizabeth Aylward. Brain 2008
311
2


[Schinzel-Giedion syndrome: a new mutation in SETBP1].
V López-González, M R Domingo-Jiménez, L Burglen, M J Ballesta-Martínez, S Whalen, J A Piñero-Fernández, E Guillén-Navarro. An Pediatr (Barc) 2015
10
20

SETBP1 dysregulation in congenital disorders and myeloid neoplasms.
Nicoletta Coccaro, Giuseppina Tota, Antonella Zagaria, Luisa Anelli, Giorgina Specchia, Francesco Albano. Oncotarget 2017
7
28

Variance component model to account for sample structure in genome-wide association studies.
Hyun Min Kang, Jae Hoon Sul, Susan K Service, Noah A Zaitlen, Sit-Yee Kong, Nelson B Freimer, Chiara Sabatti, Eleazar Eskin. Nat Genet 2010
2


GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
Gemma L Carvill, Sarah Weckhuysen, Jacinta M McMahon, Corinna Hartmann, Rikke S Møller, Helle Hjalgrim, Joseph Cook, Eileen Geraghty, Brian J O'Roak, Steve Petrou,[...]. Neurology 2014
145
2

The genetic basis of DOORS syndrome: an exome-sequencing study.
Philippe M Campeau, Dalia Kasperaviciute, James T Lu, Lindsay C Burrage, Choel Kim, Mutsuki Hori, Berkley R Powell, Fiona Stewart, Têmis Maria Félix, Jenneke van den Ende,[...]. Lancet Neurol 2014
86
2

Mutation of the PDK1 PH domain inhibits protein kinase B/Akt, leading to small size and insulin resistance.
Jose R Bayascas, Stephan Wullschleger, Kei Sakamoto, Juan M García-Martínez, Carol Clacher, David Komander, Daan M F van Aalten, Krishna M Boini, Florian Lang, Christopher Lipina,[...]. Mol Cell Biol 2008
93
2

Molecular cloning, expression and immunolocalization of a novel human cementum-derived protein (CP-23).
Marco Antonio Alvarez-Pérez, Sampath Narayanan, Margarita Zeichner-David, Bruno Rodríguez Carmona, Higinio Arzate. Bone 2006
89
2


The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood.
Paul Lichtenstein, Eva Carlström, Maria Råstam, Christopher Gillberg, Henrik Anckarsäter. Am J Psychiatry 2010
388
2

A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder.
Joanna Martin, Raymond K Walters, Ditte Demontis, Manuel Mattheisen, S Hong Lee, Elise Robinson, Isabell Brikell, Laura Ghirardi, Henrik Larsson, Paul Lichtenstein,[...]. Biol Psychiatry 2018
74
2

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.
Andrea Ganna, F Kyle Satterstrom, Seyedeh M Zekavat, Indraniel Das, Mitja I Kurki, Claire Churchhouse, Jessica Alfoldi, Alicia R Martin, Aki S Havulinna, Andrea Byrnes,[...]. Am J Hum Genet 2018
39
5

Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses.
Sarah R Gilman, Ivan Iossifov, Dan Levy, Michael Ronemus, Michael Wigler, Dennis Vitkup. Neuron 2011
426
2

Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Stephen J Mosca, Lisa Marie Langevin, Deborah Dewey, A Micheil Innes, Anath C Lionel, Christian C Marshall, Stephen W Scherer, Jillian S Parboosingh, Francois P Bernier. J Med Genet 2016
20
10

The association between developmental coordination disorder and other developmental traits.
Raghu Lingam, Jean Golding, Marian J Jongmans, Linda P Hunt, Matthew Ellis, Alan Emond. Pediatrics 2010
75
2

Association of copy number variation across the genome with neuropsychiatric traits in the general population.
Anna L Guyatt, Evie Stergiakouli, Joanna Martin, James Walters, Michael O'Donovan, Michael Owen, Anita Thapar, George Kirov, Santiago Rodriguez, Dheeraj Rai,[...]. Am J Med Genet B Neuropsychiatr Genet 2018
14
14

Advancing the understanding of autism disease mechanisms through genetics.
Luis de la Torre-Ubieta, Hyejung Won, Jason L Stein, Daniel H Geschwind. Nat Med 2016
349
2

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population.
Elise B Robinson, Beate St Pourcain, Verneri Anttila, Jack A Kosmicki, Brendan Bulik-Sullivan, Jakob Grove, Julian Maller, Kaitlin E Samocha, Stephan J Sanders, Stephan Ripke,[...]. Nat Genet 2016
194
2

22q11.2 deletion syndrome.
Donna M McDonald-McGinn, Kathleen E Sullivan, Bruno Marino, Nicole Philip, Ann Swillen, Jacob A S Vorstman, Elaine H Zackai, Beverly S Emanuel, Joris R Vermeesch, Bernice E Morrow,[...]. Nat Rev Dis Primers 2015
381
2

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.
Heather C Mefford, Severine Clauin, Andrew J Sharp, Rikke S Moller, Reinhard Ullmann, Raj Kapur, Dan Pinkel, Gregory M Cooper, Mario Ventura, H Hilger Ropers,[...]. Am J Hum Genet 2007
174
2

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
Ruxandra Bachmann-Gagescu, Heather C Mefford, Charles Cowan, Gwen M Glew, Anne V Hing, Stephanie Wallace, Patricia I Bader, Aline Hamati, Pamela J Reitnauer, Rosemarie Smith,[...]. Genet Med 2010
120
2

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
David A Koolen, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E Veenstra-Knol, Jessie H Conta, Ana Maria Fortuna, Gabriele Gillessen-Kaesbach, Sarah Dugan, Sara Halbach,[...]. Eur J Hum Genet 2016
44
4

Segmental duplications and copy-number variation in the human genome.
Andrew J Sharp, Devin P Locke, Sean D McGrath, Ze Cheng, Jeffrey A Bailey, Rhea U Vallente, Lisa M Pertz, Royden A Clark, Stuart Schwartz, Rick Segraves,[...]. Am J Hum Genet 2005
661
2

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
Camille Leroy, Emilie Landais, Sylvain Briault, Albert David, Olivier Tassy, Nicolas Gruchy, Bruno Delobel, Marie-José Grégoire, Bruno Leheup, Laurence Taine,[...]. Eur J Hum Genet 2013
54
3

STAR: ultrafast universal RNA-seq aligner.
Alexander Dobin, Carrie A Davis, Felix Schlesinger, Jorg Drenkow, Chris Zaleski, Sonali Jha, Philippe Batut, Mark Chaisson, Thomas R Gingeras. Bioinformatics 2013
2


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.