A citation-based method for searching scientific literature

Antonietta Coppola, Elena Cellini, Hannah Stamberger, Elmo Saarentaus, Valentina Cetica, Dennis Lal, Tania Djémié, Magdalena Bartnik-Glaska, Berten Ceulemans, J Helen Cross, Tine Deconinck, Salvatore De Masi, Thomas Dorn, Renzo Guerrini, Dorotha Hoffman-Zacharska, Frank Kooy, Lieven Lagae, Nicholas Lench, Johannes R Lemke, Ersilia Lucenteforte, Francesca Madia, Heather C Mefford, Deborah Morrogh, Peter Nuernberg, Aarno Palotie, An-Sofie Schoonjans, Pasquale Striano, Elzbieta Szczepanik, Anna Tostevin, Joris R Vermeesch, Hilde Van Esch, Wim Van Paesschen, Jonathan J Waters, Sarah Weckhuysen, Federico Zara, Peter De Jonghe, Sanjay M Sisodiya, Carla Marini. Epilepsia 2019
Times Cited: 29







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



Times Cited
  Times     Co-cited
Similarity


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
34

Copy number variation plays an important role in clinical epilepsy.
Heather Olson, Yiping Shen, Jennifer Avallone, Beth R Sheidley, Rebecca Pinsky, Ann M Bergin, Gerard T Berry, Frank H Duffy, Yaman Eksioglu, David J Harris,[...]. Ann Neurol 2014
103
31

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
170
27

Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.
Felippe Borlot, Brigid M Regan, Anne S Bassett, D James Stavropoulos, Danielle M Andrade. JAMA Neurol 2017
39
24

De novo variants in neurodevelopmental disorders with epilepsy.
Henrike O Heyne, Tarjinder Singh, Hannah Stamberger, Rami Abou Jamra, Hande Caglayan, Dana Craiu, Peter De Jonghe, Renzo Guerrini, Katherine L Helbig, Bobby P C Koeleman,[...]. Nat Genet 2018
104
24

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
Carolien G F de Kovel, Holger Trucks, Ingo Helbig, Heather C Mefford, Carl Baker, Costin Leu, Christian Kluck, Hiltrud Muhle, Sarah von Spiczak, Philipp Ostertag,[...]. Brain 2010
313
24

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein,[...]. Am J Hum Genet 2010
20

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.
Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera, Sarah T South. Genet Med 2011
516
20

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
920
20


Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.
Heather C Mefford, Hiltrud Muhle, Philipp Ostertag, Sarah von Spiczak, Karen Buysse, Carl Baker, Andre Franke, Alain Malafosse, Pierre Genton, Pierre Thomas,[...]. PLoS Genet 2010
328
17

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
153
17

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
17

The hidden genetics of epilepsy-a clinically important new paradigm.
Rhys H Thomas, Samuel F Berkovic. Nat Rev Neurol 2014
137
17

Early-Life Epilepsies and the Emerging Role of Genetic Testing.
Anne T Berg, Jason Coryell, Russell P Saneto, Zachary M Grinspan, John J Alexander, Mariana Kekis, Joseph E Sullivan, Elaine C Wirrell, Renée A Shellhaas, John R Mytinger,[...]. JAMA Pediatr 2017
72
17

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
17

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability.
Saul A Mullen, Gemma L Carvill, Susannah Bellows, Marta A Bayly, Holger Trucks, Dennis Lal, Thoman Sander, Samuel F Berkovic, Leanne M Dibbens, Ingrid E Scheffer,[...]. Neurology 2013
93
17

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
Francesca M Snoeijen-Schouwenaars, Jans S van Ool, Judith S Verhoeven, Petra van Mierlo, Hilde M H Braakman, Eric E Smeets, Joost Nicolai, Jeroen Schoots, Mariel W A Teunissen, Rob P W Rouhl,[...]. Epilepsia 2019
29
17

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.
Dennis Lal, Ann-Kathrin Ruppert, Holger Trucks, Herbert Schulz, Carolien G de Kovel, Dorothée Kasteleijn-Nolst Trenité, Anja C M Sonsma, Bobby P Koeleman, Dick Lindhout, Yvonne G Weber,[...]. PLoS Genet 2015
57
13

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
Pasquale Striano, Antonietta Coppola, Roberta Paravidino, Michela Malacarne, Stefania Gimelli, Angela Robbiano, Monica Traverso, Marianna Pezzella, Vincenzo Belcastro, Amedeo Bianchi,[...]. Arch Neurol 2012
46
13

Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study.
Iván Sánchez Fernández, Tobias Loddenkemper, Marina Gaínza-Lein, Beth Rosen Sheidley, Annapurna Poduri. Neurology 2019
27
14

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
86
13

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
Ingo Helbig, Heather C Mefford, Andrew J Sharp, Michel Guipponi, Marco Fichera, Andre Franke, Hiltrud Muhle, Carolien de Kovel, Carl Baker, Sarah von Spiczak,[...]. Nat Genet 2009
394
13

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
O K Steinlein, J C Mulley, P Propping, R H Wallace, H A Phillips, G R Sutherland, I E Scheffer, S F Berkovic. Nat Genet 1995
818
13


Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
Elizabeth E Palmer, Deborah Schofield, Rupendra Shrestha, Tejaswi Kandula, Rebecca Macintosh, John A Lawson, Ian Andrews, Hugo Sampaio, Alexandra M Johnson, Michelle A Farrar,[...]. Mol Genet Genomic Med 2018
33
13

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
174
13

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
13


A copy number variation morbidity map of developmental delay.
Gregory M Cooper, Bradley P Coe, Santhosh Girirajan, Jill A Rosenfeld, Tiffany H Vu, Carl Baker, Charles Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig,[...]. Nat Genet 2011
805
13

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Anne Rochtus, Heather E Olson, Lacey Smith, Louisa G Keith, Christelle El Achkar, Alan Taylor, Sonal Mahida, Meredith Park, McKenna Kelly, Catherine Shain,[...]. Epilepsia 2020
21
19

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, Sibel Kantarci, Hutton Kearney, Ankita Patel, Gordana Raca, Deborah I Ritter, Sarah T South, Erik C Thorland,[...]. Genet Med 2020
146
13

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.
Dalila Pinto, Katayoon Darvishi, Xinghua Shi, Diana Rajan, Diane Rigler, Tom Fitzgerald, Anath C Lionel, Bhooma Thiruvahindrapuram, Jeffrey R Macdonald, Ryan Mills,[...]. Nat Biotechnol 2011
291
10

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.
Eduardo Pérez-Palma, Ingo Helbig, Karl Martin Klein, Verneri Anttila, Heiko Horn, Eva Maria Reinthaler, Padhraig Gormley, Andrea Ganna, Andrea Byrnes, Katharina Pernhorst,[...]. J Med Genet 2017
11
27

Structural genomic variation in childhood epilepsies with complex phenotypes.
Ingo Helbig, Marielle E M Swinkels, Emmelien Aten, Almuth Caliebe, Ruben van 't Slot, Rainer Boor, Sarah von Spiczak, Hiltrud Muhle, Johanna A Jähn, Ellen van Binsbergen,[...]. Eur J Hum Genet 2014
18
16

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
664
10

Chromosomal microarray in unexplained severe early onset epilepsy - A single centre cohort.
Nicholas M Allen, Judith Conroy, Amre Shahwan, Sean Ennis, Bryan Lynch, Sally A Lynch, Mary D King. Eur J Paediatr Neurol 2015
12
25

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Sarah S Kalia, Kathy Adelman, Sherri J Bale, Wendy K Chung, Christine Eng, James P Evans, Gail E Herman, Sophia B Hufnagel, Teri E Klein, Bruce R Korf,[...]. Genet Med 2017
814
10

Incorporating epilepsy genetics into clinical practice: a 360°evaluation.
Stephanie Oates, Shan Tang, Richard Rosch, Rosalie Lear, Elaine F Hughes, Ruth E Williams, Line H G Larsen, Qin Hao, Hans Atli Dahl, Rikke S Møller,[...]. NPJ Genom Med 2018
25
12

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.
Tyler Mark Pierson, Hongjie Yuan, Eric D Marsh, Karin Fuentes-Fajardo, David R Adams, Thomas Markello, Gretchen Golas, Dimitre R Simeonov, Conisha Holloman, Anel Tankovic,[...]. Ann Clin Transl Neurol 2014
136
10

Precision therapy for epilepsy due to KCNT1 mutations: A randomized trial of oral quinidine.
Saul A Mullen, Patrick W Carney, Annie Roten, Michael Ching, Paul A Lightfoot, Leonid Churilov, Umesh Nair, Melody Li, Samuel F Berkovic, Steven Petrou,[...]. Neurology 2018
47
10


ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
Robert C Green, Jonathan S Berg, Wayne W Grody, Sarah S Kalia, Bruce R Korf, Christa L Martin, Amy L McGuire, Robert L Nussbaum, Julianne M O'Daniel, Kelly E Ormond,[...]. Genet Med 2013
10

A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy.
Katherine B Howell, Stefanie Eggers, Kim Dalziel, Jessica Riseley, Simone Mandelstam, Candace T Myers, Jacinta M McMahon, Amy Schneider, Gemma L Carvill, Heather C Mefford,[...]. Epilepsia 2018
31
10

Genetic testing in the epilepsies--report of the ILAE Genetics Commission.
Ruth Ottman, Shinichi Hirose, Satish Jain, Holger Lerche, Iscia Lopes-Cendes, Jeffrey L Noebels, José Serratosa, Federico Zara, Ingrid E Scheffer. Epilepsia 2010
119
10

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
Gaetan Lesca, Gabrielle Rudolf, Nadine Bruneau, Natalia Lozovaya, Audrey Labalme, Nadia Boutry-Kryza, Manal Salmi, Timur Tsintsadze, Laura Addis, Jacques Motte,[...]. Nat Genet 2013
247
10

GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Vincent Strehlow, Henrike O Heyne, Danique R M Vlaskamp, Katie F M Marwick, Gabrielle Rudolf, Julitta de Bellescize, Saskia Biskup, Eva H Brilstra, Oebele F Brouwer, Petra M C Callenbach,[...]. Brain 2019
48
10

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
200
10

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
Patrick May, Simon Girard, Merle Harrer, Dheeraj R Bobbili, Julian Schubert, Stefan Wolking, Felicitas Becker, Pamela Lachance-Touchette, Caroline Meloche, Micheline Gravel,[...]. Lancet Neurol 2018
34
10



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.