A citation-based method for searching scientific literature

Inés Quintela, Jesús Eirís, Carmen Gómez-Lado, Laura Pérez-Gay, David Dacruz, Raquel Cruz, Manuel Castro-Gago, Luz Míguez, Ángel Carracedo, Francisco Barros. Gene 2017
Times Cited: 11







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



Times Cited
  Times     Co-cited
Similarity


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
36

The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.
Stefano D'Arrigo, Francesco Gavazzi, Enrico Alfei, Orsetta Zuffardi, Cristina Montomoli, Barbara Corso, Erika Buzzi, Francesca L Sciacca, Sara Bulgheroni, Daria Riva,[...]. J Child Neurol 2016
22
27

Global variation in copy number in the human genome.
Richard Redon, Shumpei Ishikawa, Karen R Fitch, Lars Feuk, George H Perry, T Daniel Andrews, Heike Fiegler, Michael H Shapero, Andrew R Carson, Wenwei Chen,[...]. Nature 2006
27

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
E Di Gregorio, E Riberi, E F Belligni, E Biamino, M Spielmann, U Ala, A Calcia, I Bagnasco, D Carli, G Gai,[...]. Clin Genet 2017
22
27

Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy.
Xiuhua Bozarth, Jennifer N Dines, Qian Cong, Ghayda M Mirzaa, Kimberly Foss, J Lawrence Merritt, Jenny Thies, Heather C Mefford, Edward Novotny. Am J Med Genet A 2018
10
30

High resolution chromosomal microarray in undiagnosed neurological disorders.
Katherine B Howell, Andrew J Kornberg, A Simon Harvey, Monique M Ryan, Mark T Mackay, Jeremy L Freeman, M Victoria Rodriguez Casero, Kevin J Collins, Michael Hayman, Ahmad Mohamed,[...]. J Paediatr Child Health 2013
16
18

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Santhosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane E McCarthy, Carl Baker,[...]. Nat Genet 2010
411
18

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
152
18

Copy number variations in children with brain malformations and refractory epilepsy.
Josephine Wincent, Sintia Kolbjer, Daniel Martin, Aron Luthman, Per Åmark, Maria Dahlin, Britt-Marie Anderlid. Am J Med Genet A 2015
8
25

Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Ivona Sansović, Ana-Maria Ivankov, Adriana Bobinec, Mijana Kero, Ingeborg Barišić. Croat Med J 2017
10
20

The Clinical Utility of a Single-Nucleotide Polymorphism Microarray in Patients With Epilepsy at a Tertiary Medical Center.
Sarah A Hrabik, Shannon M Standridge, Hansel M Greiner, Derek E Neilson, Valentina V Pilipenko, Sarah L Zimmerman, Jessica A Connor, Christine G Spaeth. J Child Neurol 2015
5
40

The penetrance of copy number variations for schizophrenia and developmental delay.
George Kirov, Elliott Rees, James T R Walters, Valentina Escott-Price, Lyudmila Georgieva, Alexander L Richards, Kimberly D Chambert, Gerwyn Davies, Sophie E Legge, Jennifer L Moran,[...]. Biol Psychiatry 2014
194
18

Array CGH analysis of a cohort of Russian patients with intellectual disability.
Anna A Kashevarova, Lyudmila P Nazarenko, Nikolay A Skryabin, Olga A Salyukova, Nataliya N Chechetkina, Ekaterina N Tolmacheva, Elena A Sazhenova, Pamela Magini, Claudio Graziano, Giovanni Romeo,[...]. Gene 2014
30
18

Autism spectrum disorder and epilepsy: Disorders with a shared biology.
Bo Hoon Lee, Tristram Smith, Alex R Paciorkowski. Epilepsy Behav 2015
79
18


Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
Agatino Battaglia, Viola Doccini, Laura Bernardini, Antonio Novelli, Sara Loddo, Anna Capalbo, Tiziana Filippi, John C Carey. Eur J Paediatr Neurol 2013
118
18

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
102
18

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
513
18

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
38
18

Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil.
G S Vianna, P F V Medeiros, A F Alves, T O Silva, F S Jehee. Genet Mol Res 2016
7
28

Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability.
Rolph Pfundt, Kat Kwiatkowski, Alan Roter, Anju Shukla, Eric Thorland, Richard Hockett, Barbara DuPont, Eric T Fung, Alka Chaubey. Genet Med 2016
7
28

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.
Gerarda Cappuccio, Francesco Vitiello, Alberto Casertano, Paolo Fontana, Rita Genesio, Dario Bruzzese, Virginia Maria Ginocchio, Angela Mormile, Lucio Nitsch, Generoso Andria,[...]. Ital J Pediatr 2016
10
20

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.
Magdalena Bartnik, Beata Nowakowska, Katarzyna Derwińska, Barbara Wiśniowiecka-Kowalnik, Marta Kędzior, Joanna Bernaciak, Kamila Ziemkiewicz, Tomasz Gambin, Maciej Sykulski, Natalia Bezniakow,[...]. J Appl Genet 2014
30
18

SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.
Guylaine D'Amours, Mathieu Langlois, Géraldine Mathonnet, Raouf Fetni, Sonia Nizard, Myriam Srour, Frédérique Tihy, Michael S Phillips, Jacques L Michaud, Emmanuelle Lemyre. BMC Med Genomics 2014
10
20

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Magdalena Bartnik, Elżbieta Szczepanik, Katarzyna Derwińska, Barbara Wiśniowiecka-Kowalnik, Tomasz Gambin, Maciej Sykulski, Kamila Ziemkiewicz, Marta Kędzior, Monika Gos, Dorota Hoffman-Zacharska,[...]. Am J Med Genet B Neuropsychiatr Genet 2012
36
18

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
18

1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay.
Ahmed T Abdelmoity, John J Hall, Douglas C Bittel, Shihui Yu. Eur J Med Genet 2011
23
18

12p13 rearrangements: 6 Mb deletion responsible for ID/MCA and reciprocal duplication without clinical responsibility.
Irene Madrigal, Margarita Martinez, Laia Rodriguez-Revenga, Ana Carrió, Montserrat Milà. Am J Med Genet A 2012
8
25

A familial cryptic subtelomeric deletion 12p with variable phenotypic effect.
E Baker, L Hinton, D F Callen, E A Haan, A Dobbie, G R Sutherland. Clin Genet 2002
26
18

Calcium Channel Mutations in Cardiac Arrhythmia Syndromes.
Matthew J Betzenhauser, Geoffrey S Pitt, Charles Antzelevitch. Curr Mol Pharmacol 2015
26
18

Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.
Isabella Fanizza, Sara Bertuzzo, Silvana Beri, Elisabetta Scalera, Angelo Massagli, Maria Enrica Sali, Roberto Giorda, Maria Clara Bonaglia. Eur J Med Genet 2014
4
50

Subtelomeric deletion of 12p: Description of a third case and review.
A H Macdonald, L Rodríguez, I Aceña, M L Martínez-Fernández, D Sánchez-Izquierdo, E Zuazo, M L Martínez-Frías. Am J Med Genet A 2010
16
18

Screening for subtelomeric chromosome alteration in a consecutive series of newborns with congenital defects.
Laura Rodríguez, María Luisa Martínez-Fernández, Elena Mansilla, Jacobo Mendioroz, Rosa María Arteaga, Joaquín Fernández Toral, Nieves Martínez Guardia, Angel García, Fernando Centeno, Jorge Pantoja,[...]. Clin Dysmorphol 2008
7
28


12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
Julien Thevenon, Patrick Callier, Joris Andrieux, Bruno Delobel, Albert David, Sylvie Sukno, Delphine Minot, Laure Mosca Anne, Nathalie Marle, Damien Sanlaville,[...]. Eur J Hum Genet 2013
43
18

A 4.5 Mb terminal deletion of chromosome 12p helps further define a psychosis-associated locus.
Hilda Vargas, Gail Beldia, William Korosh, Vicki Sudhalter, Anwar Iqbal, Jose Arturo Sanchez-Lacay, Milen Velinov. Eur J Med Genet 2012
8
25

Psychotic manifestations in a patient with mental retardation and a 6.2 megabase deletion at the distal short arm of chromosome 12.
Milen Velinov, Gail Beldia, Hong Gu, John A Tsiouris, Edmund C Jenkins, W T Brown. CNS Spectr 2008
11
18

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.
Caroline Rooryck, Marianne Stef, Ingrid Burgelin, Delphine Simon, Noui Souakri, Jean-Benoît Thambo, Jean-François Chateil, Didier Lacombe, Benoît Arveiler. Eur J Med Genet 2009
31
18

CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers.
Catia Mio, Nadia Passon, Federica Baldan, Elisa Bregant, Elisabetta Monaco, Loretta Mancini, Eliana Demori, Giuseppe Damante. Eur J Med Genet 2020
4
50

The contribution of de novo coding mutations to autism spectrum disorder.
Ivan Iossifov, Brian J O'Roak, Stephan J Sanders, Michael Ronemus, Niklas Krumm, Dan Levy, Holly A Stessman, Kali T Witherspoon, Laura Vives, Karynne E Patterson,[...]. Nature 2014
18

Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.
Hilary J Vernon, Rebecca McClellan, Denise A S Batista, Sakkubai Naidu. Am J Med Genet A 2015
21
9

Lack of the sodium-driven chloride bicarbonate exchanger NCBE impairs visual function in the mouse retina.
Gerrit Hilgen, Antje K Huebner, Naoyuki Tanimoto, Vithiyanjali Sothilingam, Christina Seide, Marina Garcia Garrido, Karl-Friedrich Schmidt, Mathias W Seeliger, Siegrid Löwel, Reto Weiler,[...]. PLoS One 2012
22
9

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
327
9

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.
J Elia, X Gai, H M Xie, J C Perin, E Geiger, J T Glessner, M D'arcy, R deBerardinis, E Frackelton, C Kim,[...]. Mol Psychiatry 2010
352
9


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
9

The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines.
M Pathania, E C Davenport, J Muir, D F Sheehan, G López-Doménech, J T Kittler. Transl Psychiatry 2014
116
9

A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder.
Kevin A Strauss, Sander Markx, Benjamin Georgi, Steven M Paul, Robert N Jinks, Toshinori Hoshi, Ann McDonald, Michael B First, Wencheng Liu, Abigail R Benkert,[...]. Hum Mol Genet 2014
32
9

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
Abdulraheem Almalki, Charlotte L Alston, Alasdair Parker, Ingrid Simonic, Sarju G Mehta, Langping He, Mojgan Reza, Jorge M A Oliveira, Robert N Lightowlers, Robert McFarland,[...]. Biochim Biophys Acta 2014
45
9

The genetics of microdeletion and microduplication syndromes: an update.
Corey T Watson, Tomas Marques-Bonet, Andrew J Sharp, Heather C Mefford. Annu Rev Genomics Hum Genet 2014
78
9


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.