A citation-based method for searching scientific literature

Gemma L Carvill, Heather C Mefford. Curr Opin Genet Dev 2013
Times Cited: 28







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



Times Cited
  Times     Co-cited
Similarity


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
21

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
820
21

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
97
21

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.
Kai Wang, Mingyao Li, Dexter Hadley, Rui Liu, Joseph Glessner, Struan F A Grant, Hakon Hakonarson, Maja Bucan. Genome Res 2007
17

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
294
17

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
17

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
334
14

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
320
14

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
398
14

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
59
14

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
Michael Steffens, Costin Leu, Ann-Kathrin Ruppert, Federico Zara, Pasquale Striano, Angela Robbiano, Giuseppe Capovilla, Paolo Tinuper, Antonio Gambardella, Amedeo Bianchi,[...]. Hum Mol Genet 2012
106
10

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
935
10

Duplication hotspots, rare genomic disorders, and common disease.
Heather C Mefford, Evan E Eichler. Curr Opin Genet Dev 2009
154
10

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison Merikangas, Lambertus Klei, Bhooma Thiruvahindrapuram, Xiao Xu, Robert Ziman, Zhuozhi Wang,[...]. Am J Hum Genet 2014
539
10

Epilepsies in twins: genetics of the major epilepsy syndromes.
S F Berkovic, R A Howell, D A Hay, J L Hopper. Ann Neurol 1998
262
10

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
Leanne M Dibbens, Saul Mullen, Ingo Helbig, Heather C Mefford, Marta A Bayly, Susannah Bellows, Costin Leu, Holger Trucks, Tanja Obermeier, Michael Wittig,[...]. Hum Mol Genet 2009
167
10

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
47
10

Genome sequencing identifies major causes of severe intellectual disability.
Christian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, Maartje van de Vorst, Bregje W M van Bon, Marjolein H Willemsen, Michael Kwint, Irene M Janssen, Alexander Hoischen, Annette Schenck,[...]. Nature 2014
641
10

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
10


Second-generation PLINK: rising to the challenge of larger and richer datasets.
Christopher C Chang, Carson C Chow, Laurent Cam Tellier, Shashaank Vattikuti, Shaun M Purcell, James J Lee. Gigascience 2015
10

Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank.
Karen Crawford, Matthew Bracher-Smith, David Owen, Kimberley M Kendall, Elliott Rees, Antonio F Pardiñas, Mark Einon, Valentina Escott-Price, James T R Walters, Michael C O'Donovan,[...]. J Med Genet 2019
42
10

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.
P Striano, Y G Weber, M R Toliat, J Schubert, C Leu, R Chaimana, S Baulac, R Guerrero, E LeGuern, A-E Lehesjoki,[...]. Neurology 2012
62
7

A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy.
Iori Ohmori, Mamoru Ouchida, Takafumi Miki, Nobuyoshi Mimaki, Shigeki Kiyonaka, Teiichi Nishiki, Kazuhito Tomizawa, Yasuo Mori, Hideki Matsui. Neurobiol Dis 2008
36
7

A polygenic heterogeneity model for common epilepsies with complex genetics.
L M Dibbens, S E Heron, J C Mulley. Genes Brain Behav 2007
38
7

Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Tara Klassen, Caleb Davis, Alica Goldman, Dan Burgess, Tim Chen, David Wheeler, John McPherson, Traci Bourquin, Lora Lewis, Donna Villasana,[...]. Cell 2011
215
7

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
Nanda A Singh, Chris Pappas, E Jill Dahle, Lieve R F Claes, Timothy H Pruess, Peter De Jonghe, Joel Thompson, Missy Dixon, Christina Gurnett, Andy Peiffer,[...]. PLoS Genet 2009
164
7

Investigation of NRXN1 deletions: clinical and molecular characterization.
Mindy Preston Dabell, Jill A Rosenfeld, Patricia Bader, Luis F Escobar, Dima El-Khechen, Stephanie E Vallee, Mary Beth Palko Dinulos, Cynthia Curry, Jamie Fisher, Raymond Tervo,[...]. Am J Med Genet A 2013
71
7

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Santhosh Girirajan, Jill A Rosenfeld, Bradley P Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A Filipink, Juliann S McConnell, Brad Angle, Wendy S Meschino,[...]. N Engl J Med 2012
358
7

Functional impact of global rare copy number variation in autism spectrum disorders.
Dalila Pinto, Alistair T Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan, Judith Conroy, Tiago R Magalhaes, Catarina Correia, Brett S Abrahams,[...]. Nature 2010
7

Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
Jacob A Tennessen, Abigail W Bigham, Timothy D O'Connor, Wenqing Fu, Eimear E Kenny, Simon Gravel, Sean McGee, Ron Do, Xiaoming Liu, Goo Jun,[...]. Science 2012
7

A map of human genome variation from population-scale sequencing.
Gonçalo R Abecasis, David Altshuler, Adam Auton, Lisa D Brooks, Richard M Durbin, Richard A Gibbs, Matt E Hurles, Gil A McVean. Nature 2010
7

Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.
Saul A Mullen, Carla Marini, Arvid Suls, Davide Mei, Elvio Della Giustina, Daniela Buti, Todor Arsov, John Damiano, Kate Lawrence, Peter De Jonghe,[...]. Arch Neurol 2011
86
7

Mutations in EFHC1 cause juvenile myoclonic epilepsy.
Toshimitsu Suzuki, Antonio V Delgado-Escueta, Kripamoy Aguan, Maria E Alonso, Jun Shi, Yuji Hara, Motohiro Nishida, Tomohiro Numata, Marco T Medina, Tamaki Takeuchi,[...]. Nat Genet 2004
225
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
777
7

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.
Erin L Heinzen, Chantal Depondt, Gianpiero L Cavalleri, Elizabeth K Ruzzo, Nicole M Walley, Anna C Need, Dongliang Ge, Min He, Elizabeth T Cirulli, Qian Zhao,[...]. Am J Hum Genet 2012
82
7

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.
Patrick Cossette, Lidong Liu, Katéri Brisebois, Haiheng Dong, Anne Lortie, Michel Vanasse, Jean-Marc Saint-Hilaire, Lionel Carmant, Andrei Verner, Wei-Yang Lu,[...]. Nat Genet 2002
418
7

Association between genetic variation of CACNA1H and childhood absence epilepsy.
Yucai Chen, Jianjun Lu, Hong Pan, Yuehua Zhang, Husheng Wu, Keming Xu, Xiaoyan Liu, Yuwu Jiang, Xinhua Bao, Zhijian Yao,[...]. Ann Neurol 2003
256
7

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.
S Baulac, G Huberfeld, I Gourfinkel-An, G Mitropoulou, A Beranger, J F Prud'homme, M Baulac, A Brice, R Bruzzone, E LeGuern. Nat Genet 2001
545
7

GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier.
G Seidner, M G Alvarez, J I Yeh, K R O'Driscoll, J Klepper, T S Stump, D Wang, N B Spinner, M J Birnbaum, D C De Vivo. Nat Genet 1998
262
7

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.
R H Wallace, C Marini, S Petrou, L A Harkin, D N Bowser, R G Panchal, D A Williams, G R Sutherland, J C Mulley, I E Scheffer,[...]. Nat Genet 2001
568
7

A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Aparna Prasad, Daniele Merico, Bhooma Thiruvahindrapuram, John Wei, Anath C Lionel, Daisuke Sato, Jessica Rickaby, Chao Lu, Peter Szatmari, Wendy Roberts,[...]. G3 (Bethesda) 2012
124
7

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
A Escayg, B T MacDonald, M H Meisler, S Baulac, G Huberfeld, I An-Gourfinkel, A Brice, E LeGuern, B Moulard, D Chaigne,[...]. Nat Genet 2000
699
7

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
Arvid Suls, Saul A Mullen, Yvonne G Weber, Kristien Verhaert, Berten Ceulemans, Renzo Guerrini, Thomas V Wuttke, Alberto Salvo-Vargas, Liesbet Deprez, Lieve R F Claes,[...]. Ann Neurol 2009
156
7

Genome architecture, rearrangements and genomic disorders.
Paweł Stankiewicz, James R Lupski. Trends Genet 2002
627
7



Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing.
Yanlin Wang, Yan Chen, Feng Tian, Jianguang Zhang, Zhuo Song, Yi Wu, Xu Han, Wenjing Hu, Duan Ma, David Cram,[...]. Clin Chem 2014
146
7

ACMG statement on noninvasive prenatal screening for fetal aneuploidy.
Anthony R Gregg, S J Gross, R G Best, K G Monaghan, K Bajaj, B G Skotko, B H Thompson, M S Watson. Genet Med 2013
177
7

A new era in noninvasive prenatal testing.
Stephanie Morain, Michael F Greene, Michelle M Mello. N Engl J Med 2013
69
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.