A citation-based method for searching scientific literature

Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, Jacinta M McMahon, Brian J O'Roak, Joseph Cook, Adiba Khan, Michael O Dorschner, Molly Weaver, Sophie Calvert, Stephen Malone, Geoffrey Wallace, Thorsten Stanley, Ann M E Bye, Andrew Bleasel, Katherine B Howell, Sara Kivity, Mark T Mackay, Victoria Rodriguez-Casero, Richard Webster, Amos Korczyn, Zaid Afawi, Nathanel Zelnick, Tally Lerman-Sagie, Dorit Lev, Rikke S Møller, Deepak Gill, Danielle M Andrade, Jeremy L Freeman, Lynette G Sadleir, Jay Shendure, Samuel F Berkovic, Ingrid E Scheffer, Heather C Mefford. Nat Genet 2013
Times Cited: 440







List of co-cited articles
1287 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


De novo mutations in epileptic encephalopathies.
Andrew S Allen, Samuel F Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E Eichler, Michael P Epstein, Tracy Glauser, David B Goldstein, Yujun Han,[...]. Nature 2013
32

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
28

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology.
Ingrid E Scheffer, Samuel Berkovic, Giuseppe Capovilla, Mary B Connolly, Jacqueline French, Laura Guilhoto, Edouard Hirsch, Satish Jain, Gary W Mathern, Solomon L Moshé,[...]. Epilepsia 2017
19

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
Arvid Suls, Johanna A Jaehn, Angela Kecskés, Yvonne Weber, Sarah Weckhuysen, Dana C Craiu, Aleksandra Siekierska, Tania Djémié, Tatiana Afrikanova, Padhraig Gormley,[...]. Am J Hum Genet 2013
132
18

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.
Rhys H Thomas, Lin Mei Zhang, Gemma L Carvill, John S Archer, Sinéad B Heavin, Simone A Mandelstam, Dana Craiu, Samuel F Berkovic, Deepak S Gill, Heather C Mefford,[...]. Neurology 2015
52
34

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Anita Rauch, Dagmar Wieczorek, Elisabeth Graf, Thomas Wieland, Sabine Endele, Thomas Schwarzmayr, Beate Albrecht, Deborah Bartholdi, Jasmin Beygo, Nataliya Di Donato,[...]. Lancet 2012
719
17

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard,[...]. Brain 2017
271
15

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.
Sébastien Chénier, Grace Yoon, Bob Argiropoulos, Julie Lauzon, Rachel Laframboise, Joo Wook Ahn, Caroline Mackie Ogilvie, Anath C Lionel, Christian R Marshall, Andrea K Vaags,[...]. J Neurodev Disord 2014
59
20


Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy.
Kay-Marie J Lamar, Gemma L Carvill. Front Mol Neurosci 2018
31
38

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Danique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T Myers, Mark F Bennett, Wenshu XiangWei, Danielle Williams,[...]. Neurology 2019
69
17

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
Karin Weiss, Paulien A Terhal, Lior Cohen, Michael Bruccoleri, Melita Irving, Ariel F Martinez, Jill A Rosenfeld, Keren Machol, Yaping Yang, Pengfei Liu,[...]. Am J Hum Genet 2016
71
16

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
Genay O Pilarowski, Hilary J Vernon, Carolyn D Applegate, Leandros Boukas, Megan T Cho, Christina A Gurnett, Paul J Benke, Erin Beaver, Jennifer M Heeley, Livija Medne,[...]. J Med Genet 2018
29
41

The genetic landscape of the epileptic encephalopathies of infancy and childhood.
Amy McTague, Katherine B Howell, J Helen Cross, Manju A Kurian, Ingrid E Scheffer. Lancet Neurol 2016
312
11

CHD2 variants are a risk factor for photosensitivity in epilepsy.
Elizabeth C Galizia, Candace T Myers, Costin Leu, Carolien G F de Kovel, Tatiana Afrikanova, Maria Lorena Cordero-Maldonado, Teresa G Martins, Maxime Jacmin, Suzanne Drury, V Krishna Chinthapalli,[...]. Brain 2015
70
15

De novo mutations in moderate or severe intellectual disability.
Fadi F Hamdan, Myriam Srour, Jose-Mario Capo-Chichi, Hussein Daoud, Christina Nassif, Lysanne Patry, Christine Massicotte, Amirthagowri Ambalavanan, Dan Spiegelman, Ousmane Diallo,[...]. PLoS Genet 2014
273
11

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H Rodan, Catherine B Nowak, Jessica Douglas, Kathryn J Swoboda,[...]. Nat Commun 2018
44
25

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
Lisenka E L M Vissers, Conny M A van Ravenswaaij, Ronald Admiraal, Jane A Hurst, Bert B A de Vries, Irene M Janssen, Walter A van der Vliet, Erik H L P G Huys, Pieter J de Jong, Ben C J Hamel,[...]. Nat Genet 2004
806
11

Disruptive CHD8 mutations define a subtype of autism early in development.
Raphael Bernier, Christelle Golzio, Bo Xiong, Holly A Stessman, Bradley P Coe, Osnat Penn, Kali Witherspoon, Jennifer Gerdts, Carl Baker, Anneke T Vulto-van Silfhout,[...]. Cell 2014
448
11

Chd2 Is Necessary for Neural Circuit Development and Long-Term Memory.
Young J Kim, Sattar Khoshkhoo, Jan C Frankowski, Bingyao Zhu, Saad Abbasi, Sunyoung Lee, Ye Emily Wu, Robert F Hunt. Neuron 2018
38
28

Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case.
Chiara Veredice, Flaviana Bianco, Ilaria Contaldo, Daniela Orteschi, Maria Chiara Stefanini, Domenica Battaglia, Donatella Lettori, Francesco Guzzetta, Marcella Zollino. Epilepsia 2009
27
37

Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Johannes R Lemke, Erik Riesch, Tim Scheurenbrand, Max Schubach, Christian Wilhelm, Isabelle Steiner, Jörg Hansen, Carolina Courage, Sabina Gallati, Sarah Bürki,[...]. Epilepsia 2012
241
9

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
L Claes, J Del-Favero, B Ceulemans, L Lagae, C Van Broeckhoven, P De Jonghe. Am J Hum Genet 2001
847
9

Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy.
Frank H Yu, Massimo Mantegazza, Ruth E Westenbroek, Carol A Robbins, Franck Kalume, Kimberly A Burton, William J Spain, G Stanley McKnight, Todd Scheuer, William A Catterall. Nat Neurosci 2006
715
9

Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency.
Leonardo P Capelli, Ana C V Krepischi, Juliana Gurgel-Giannetti, Mirian Fabiola S Mendes, Tatiane Rodrigues, Monica C Varela, Célia P Koiffmann, Carla Rosenberg. Eur J Med Genet 2012
36
25

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Hannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoit, Mauro Budetta, Almuth Caliebe,[...]. Neurology 2016
170
9

De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Stephan J Sanders, Michael T Murtha, Abha R Gupta, John D Murdoch, Melanie J Raubeson, A Jeremy Willsey, A Gulhan Ercan-Sencicek, Nicholas M DiLullo, Neelroop N Parikshak, Jason L Stein,[...]. Nature 2012
9


Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
Cyril Mignot, Celina von Stülpnagel, Caroline Nava, Dorothée Ville, Damien Sanlaville, Gaetan Lesca, Agnès Rastetter, Benoit Gachet, Yannick Marie, G Christoph Korenke,[...]. J Med Genet 2016
81
11

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Brian J O'Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D Smith,[...]. Nature 2012
9

CHD2 mutations in Lennox-Gastaut syndrome.
Caroline Lund, Eylert Brodtkorb, Ane-Marte Øye, Oddveig Røsby, Kaja Kristine Selmer. Epilepsy Behav 2014
37
21


Rare copy number variants are an important cause of epileptic encephalopathies.
Heather C Mefford, Simone C Yendle, Cynthia Hsu, Joseph Cook, Eileen Geraghty, Jacinta M McMahon, Orvar Eeg-Olofsson, Lynette G Sadleir, Deepak Gill, Bruria Ben-Zeev,[...]. Ann Neurol 2011
166
8

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Fadi F Hamdan, Candace T Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre Dionne Laporte, Christina Nassif, Ousmane Diallo, Jean Monlong, Maxime Cadieux-Dion,[...]. Am J Hum Genet 2017
232
8

Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
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,[...]. Nat Commun 2014
216
8

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
Carolien G F de Kovel, Eva H Brilstra, Marjan J A van Kempen, Ruben Van't Slot, Isaac J Nijman, Zaid Afawi, Peter De Jonghe, Tania Djémié, Renzo Guerrini, Katia Hardies,[...]. Mol Genet Genomic Med 2016
62
12

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
174
8

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.
Amanda S Lindy, Mary Beth Stosser, Elizabeth Butler, Courtney Downtain-Pickersgill, Anita Shanmugham, Kyle Retterer, Tracy Brandt, Gabriele Richard, Dianalee A McKnight. Epilepsia 2018
140
8

The phenotypic spectrum of SCN8A encephalopathy.
Jan Larsen, Gemma L Carvill, Elena Gardella, Gerhard Kluger, Gudrun Schmiedel, Nina Barisic, Christel Depienne, Eva Brilstra, Yuan Mang, Jens Erik Klint Nielsen,[...]. Neurology 2015
193
8

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
Mary Beth Stosser, Amanda S Lindy, Elizabeth Butler, Kyle Retterer, Caitlin M Piccirillo-Stosser, Gabriele Richard, Dianalee A McKnight. Genet Med 2018
94
8

NaV1.1 channels and epilepsy.
William A Catterall, Franck Kalume, John C Oakley. J Physiol 2010
277
8

The Chd family of chromatin remodelers.
Concetta G A Marfella, Anthony N Imbalzano. Mutat Res 2007
262
8

CHD2 is Required for Embryonic Neurogenesis in the Developing Cerebral Cortex.
Tianjin Shen, Fen Ji, Zengqiang Yuan, Jianwei Jiao. Stem Cells 2015
50
16

Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.
Shashikant Kulkarni, Prabakaran Nagarajan, Jonathan Wall, Diana J Donovan, Robert L Donell, Azra H Ligon, Sundaresan Venkatachalam, Bradley J Quade. Am J Med Genet A 2008
46
17

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
R E Amir, I B Van den Veyver, M Wan, C Q Tran, U Francke, H Y Zoghbi. Nat Genet 1999
7

A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients.
Yishan Sun, Sergiu P Paşca, Thomas Portmann, Carleton Goold, Kathleen A Worringer, Wendy Guan, Karen C Chan, Hui Gai, Daniel Vogt, Ying-Jiun J Chen,[...]. Elife 2016
83
8

Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.
Julia Oyrer, Snezana Maljevic, Ingrid E Scheffer, Samuel F Berkovic, Steven Petrou, Christopher A Reid. Pharmacol Rev 2018
125
7

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
Anne T Berg, Samuel F Berkovic, Martin J Brodie, Jeffrey Buchhalter, J Helen Cross, Walter van Emde Boas, Jerome Engel, Jacqueline French, Tracy A Glauser, Gary W Mathern,[...]. Epilepsia 2010
7

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
Krishna R Veeramah, Janelle E O'Brien, Miriam H Meisler, Xiaoyang Cheng, Sulayman D Dib-Hajj, Stephen G Waxman, Dinesh Talwar, Santhosh Girirajan, Evan E Eichler, Linda L Restifo,[...]. Am J Hum Genet 2012
281
7

The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.
Andrea Klunder Petersen, Haley Streff, Mari Tokita, Bret L Bostwick. Am J Med Genet A 2018
10
70


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.