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: 405







List of co-cited articles
1147 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
925
33

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
24

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
667
21

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
201
20

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
18


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
67
19

Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses.
James P Clement, Massimiliano Aceti, Thomas K Creson, Emin D Ozkan, Yulin Shi, Nicholas J Reish, Antoine G Almonte, Brooke H Miller, Brian J Wiltgen, Courtney A Miller,[...]. Cell 2012
190
12

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Natalie Trump, Amy McTague, Helen Brittain, Apostolos Papandreou, Esther Meyer, Adeline Ngoh, Rodger Palmer, Deborah Morrogh, Christopher Boustred, Jane A Hurst,[...]. J Med Genet 2016
118
12

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
Fadi F Hamdan, Julie Gauthier, Dan Spiegelman, Anne Noreau, Yan Yang, Stéphanie Pellerin, Sylvia Dobrzeniecka, Mélanie Côté, Elizabeth Perreau-Linck, Lionel Carmant,[...]. N Engl J Med 2009
193
11

Synaptic, transcriptional and chromatin genes disrupted in autism.
Silvia De Rubeis, Xin He, Arthur P Goldberg, Christopher S Poultney, Kaitlin Samocha, A Erucment Cicek, Yan Kou, Li Liu, Menachem Fromer, Susan Walker,[...]. Nature 2014
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
11

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Martin H Berryer, Fadi F Hamdan, Laura L Klitten, Rikke S Møller, Lionel Carmant, Jeremy Schwartzentruber, Lysanne Patry, Sylvia Dobrzeniecka, Daniel Rochefort, Mathilde Neugnot-Cerioli,[...]. Hum Mutat 2013
115
10

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
37
27

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
247
10

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
10

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
391
10

Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Benjamin M Neale, Yan Kou, Li Liu, Avi Ma'ayan, Kaitlin E Samocha, Aniko Sabo, Chiao-Feng Lin, Christine Stevens, Li-San Wang, Vladimir Makarov,[...]. Nature 2012
10

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
762
10

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
228
10

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
118
10

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
188
9

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
176
9

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
58
15

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Saadet Mercimek-Mahmutoglu, Jaina Patel, Dawn Cordeiro, Stacy Hewson, David Callen, Elizabeth J Donner, Cecil D Hahn, Peter Kannu, Jeff Kobayashi, Berge A Minassian,[...]. Epilepsia 2015
127
9

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Elena Parrini, Carla Marini, Davide Mei, Anna Galuppi, Elena Cellini, Daniela Pucatti, Laura Chiti, Domenico Rutigliano, Claudia Bianchini, Simona Virdò,[...]. Hum Mutat 2017
87
10

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
Rikke S Møller, Line H G Larsen, Katrine M Johannesen, Inga Talvik, Tiina Talvik, Ulvi Vaher, Maria J Miranda, Muhammad Farooq, Jens E K Nielsen, Lene Lavard Svendsen,[...]. Mol Syndromol 2016
60
15

De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
I Ogiwara, K Ito, Y Sawaishi, H Osaka, E Mazaki, I Inoue, M Montal, T Hashikawa, T Shike, T Fujiwara,[...]. Neurology 2009
137
9

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
42
21

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
162
9

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Holly A F Stessman, Bo Xiong, Bradley P Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fenckova, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans,[...]. Nat Genet 2017
230
9

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
22
40

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
55
16

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
230
9

SYNGAP1: Mind the Gap.
Nallathambi Jeyabalan, James P Clement. Front Cell Neurosci 2016
41
19

Diagnostic exome sequencing in persons with severe intellectual disability.
Joep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, Tjitske Kleefstra, Helger G Yntema, Thessa Kroes, Anneke T Vulto-van Silfhout, David A Koolen, Petra de Vries, Christian Gilissen,[...]. N Engl J Med 2012
970
8

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
Katherine L Helbig, Kelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske, Zöe Powis, Shuwei Li, Sha Tang, Ingo Helbig. Genet Med 2016
172
8

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
156
8

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
Kazuyuki Nakamura, Mitsuhiro Kato, Hitoshi Osaka, Sumimasa Yamashita, Eiji Nakagawa, Kazuhiro Haginoya, Jun Tohyama, Mitsuko Okuda, Takahito Wada, Shuichi Shimakawa,[...]. Neurology 2013
129
8

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
8


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
254
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
89
8

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
131
8

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
643
8

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
33
24

SynGAP regulates ERK/MAPK signaling, synaptic plasticity, and learning in the complex with postsynaptic density 95 and NMDA receptor.
Noboru H Komiyama, Ayako M Watabe, Holly J Carlisle, Karen Porter, Paul Charlesworth, Jennifer Monti, Douglas J C Strathdee, Colin M O'Carroll, Stephen J Martin, Richard G M Morris,[...]. J Neurosci 2002
219
7

The role of synaptic GTPase-activating protein in neuronal development and synaptic plasticity.
Jee Hae Kim, Hey-Kyoung Lee, Kogo Takamiya, Richard L Huganir. J Neurosci 2003
134
7

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.
Fadi F Hamdan, Hussein Daoud, Amélie Piton, Julie Gauthier, Sylvia Dobrzeniecka, Marie-Odile Krebs, Ridha Joober, Jean-Claude Lacaille, Amélie Nadeau, Jeff M Milunsky,[...]. Biol Psychiatry 2011
104
7

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.
R H Wallace, D W Wang, R Singh, I E Scheffer, A L George, H A Phillips, K Saar, A Reis, E W Johnson, G R Sutherland,[...]. Nat Genet 1998
773
7


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.