A citation-based method for searching scientific literature

Ilaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, Maria Garzo, Chiara Valtorta, Melissa Alfonsi, Alberta Alghisi, Stefania Cappellani, Rosario Casalone, Rossella Caselli, Caterina Ceccarini, Carlo Ceglia, Anna Maria Ciaschini, Domenico Coviello, Francesca Crosti, Annamaria D'Aprile, Antonella Fabretto, Rita Genesio, Marzia Giagnacovo, Paola Granata, Ilaria Longo, Michela Malacarne, Giuseppina Marseglia, Annamaria Montaldi, Anna Maria Nardone, Chiara Palka, Vanna Pecile, Chiara Pessina, Diana Postorivo, Serena Redaelli, Alessandra Renieri, Chiara Rigon, Fabiola Tiberi, Mariella Tonelli, Nicoletta Villa, Anna Zilio, Daniela Zuccarello, Antonio Novelli, Lidia Larizza, Daniela Giardino. Mol Genet Genomic Med 2020
Times Cited: 4







List of co-cited articles
4 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
75

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
50

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Erin B Kaminsky, Vineith Kaul, Justin Paschall, Deanna M Church, Brian Bunke, Dawn Kunig, Daniel Moreno-De-Luca, Andres Moreno-De-Luca, Jennifer G Mulle, Stephen T Warren,[...]. Genet Med 2011
286
50

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
50

Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literature.
Chiara Castronovo, Milena Crippa, Ilaria Bestetti, Daniela Rusconi, Silvia Russo, Lidia Larizza, Roberto Sangermani, Maria Teresa Bonati, Palma Finelli. Am J Med Genet A 2015
10
25

European guidelines for constitutional cytogenomic analysis.
Marisa Silva, Nicole de Leeuw, Kathy Mann, Heleen Schuring-Blom, Sian Morgan, Daniela Giardino, Katrina Rack, Ros Hastings. Eur J Hum Genet 2019
31
25

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
25

Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.
Adrian Mc Cormack, Karen Claxton, Fern Ashton, Philip Asquith, Edward Atack, Roberto Mazzaschi, Paula Moverley, Rachel O'Connor, Methat Qorri, Karen Sheath,[...]. Mol Cytogenet 2016
4
25

SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control.
N de Leeuw, J Y Hehir-Kwa, A Simons, A Geurts van Kessel, D F Smeets, B H W Faas, R Pfundt. Cytogenet Genome Res 2011
31
25

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


Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Carla Lintas, Chiara Picinelli, Ignazio Stefano Piras, Roberto Sacco, Claudia Brogna, Antonio M Persico. Am J Med Genet B Neuropsychiatr Genet 2017
3
33

Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature.
Maria Paola Recalcati, Maria Teresa Bonati, Nicola Beltrami, Laura Cardarelli, Ilaria Catusi, Asia Costa, Maria Garzo, Isabella Mammi, Teresa Mattina, Elisa Nalesso,[...]. Eur J Med Genet 2018
3
33

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
25

Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years' clinical application for over 8,700 patients.
Joo Wook Ahn, Susan Bint, Anne Bergbaum, Kathy Mann, Richard P Hall, Caroline Mackie Ogilvie. Mol Cytogenet 2013
36
25

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
25

Recent segmental duplications in the human genome.
Jeffrey A Bailey, Zhiping Gu, Royden A Clark, Knut Reinert, Rhea V Samonte, Stuart Schwartz, Mark D Adams, Eugene W Myers, Peter W Li, Evan E Eichler. Science 2002
930
25

Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders.
Eleonora Napoli, Serena Russo, Laura Casula, Viola Alesi, Filomena Alessandra Amendola, Adriano Angioni, Antonio Novelli, Giovanni Valeri, Deny Menghini, Stefano Vicari. J Autism Dev Disord 2018
10
25


Diagnostic implications of genetic copy number variation in epilepsy plus.
Antonietta Coppola, Elena Cellini, Hannah Stamberger, Elmo Saarentaus, Valentina Cetica, Dennis Lal, Tania Djémié, Magdalena Bartnik-Glaska, Berten Ceulemans, J Helen Cross,[...]. Epilepsia 2019
27
25

Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features.
Valentina Cirello, Valentina Giorgini, Chiara Castronovo, Susan Marelli, Ester Mainini, Alessandra Sironi, Maria Paola Recalcati, Marco Pessina, Daniela Giardino, Lidia Larizza,[...]. Front Genet 2018
3
33

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
25

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
25

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
25

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
25

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Andrew E Fry, Elliott Rees, Rose Thompson, Kiran Mantripragada, Penny Blake, Glyn Jones, Sian Morgan, Sian Jose, Hood Mugalaasi, Hayley Archer,[...]. BMC Med Genet 2016
13
25

Copy number variation analysis of patients with intellectual disability from North-West Spain.
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
11
25

Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.
Isabel Marques Carreira, Susana Isabel Ferreira, Eunice Matoso, Luís Miguel Pires, José Ferrão, Ana Jardim, Alexandra Mascarenhas, Marta Pinto, Nuno Lavoura, Cláudia Pais,[...]. Mol Cytogenet 2015
13
25

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
25

Population analysis of large copy number variants and hotspots of human genetic disease.
Andy Itsara, Gregory M Cooper, Carl Baker, Santhosh Girirajan, Jun Li, Devin Absher, Ronald M Krauss, Richard M Myers, Paul M Ridker, Daniel I Chasman,[...]. Am J Hum Genet 2009
417
25

Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Hui Guo, Yu Peng, Zhengmao Hu, Ying Li, Guanglei Xun, Jianjun Ou, Liangdan Sun, Zhimin Xiong, Yanling Liu, Tianyun Wang,[...]. Sci Rep 2017
21
25

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
David A Koolen, Lisenka E L M Vissers, Rolph Pfundt, Nicole de Leeuw, Samantha J L Knight, Regina Regan, R Frank Kooy, Edwin Reyniers, Corrado Romano, Marco Fichera,[...]. Nat Genet 2006
299
25

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
238
25

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
92
25

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions.
Yanjie Fan, Yanming Wu, Lili Wang, Yu Wang, Zhuwen Gong, Wenjuan Qiu, Jingmin Wang, Huiwen Zhang, Xing Ji, Jun Ye,[...]. BMC Med Genomics 2018
11
25

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
920
25

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.
Douglas M Ruderfer, Tymor Hamamsy, Monkol Lek, Konrad J Karczewski, David Kavanagh, Kaitlin E Samocha, Mark J Daly, Daniel G MacArthur, Menachem Fromer, Shaun M Purcell. Nat Genet 2016
108
25

Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Dan Levy, Michael Ronemus, Boris Yamrom, Yoon-ha Lee, Anthony Leotta, Jude Kendall, Steven Marks, B Lakshmi, Deepa Pai, Kenny Ye,[...]. Neuron 2011
434
25

CNVbase: Batch identification of novel and rare copy number variations based on multi-ethnic population data.
Cheng Zhang, Jianqi Lu, Haiyi Lou, Renqian Du, Shuhua Xu, Yiping Shen, Feng Zhang, Li Jin. J Genet Genomics 2017
1
100


Copy number variations and clinical cytogenetic diagnosis of constitutional disorders.
Charles Lee, A John Iafrate, Arthur R Brothman. Nat Genet 2007
270
25

Strong association of de novo copy number mutations with autism.
Jonathan Sebat, B Lakshmi, Dheeraj Malhotra, Jennifer Troge, Christa Lese-Martin, Tom Walsh, Boris Yamrom, Seungtai Yoon, Alex Krasnitz, Jude Kendall,[...]. Science 2007
25

Clinical genetic testing for patients with autism spectrum disorders.
Yiping Shen, Kira A Dies, Ingrid A Holm, Carolyn Bridgemohan, Magdi M Sobeih, Elizabeth B Caronna, Karen J Miller, Jean A Frazier, Iris Silverstein, Jonathan Picker,[...]. Pediatrics 2010
241
25

Genetics and Genomics of Congenital Heart Disease.
Samir Zaidi, Martina Brueckner. Circ Res 2017
140
25

Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong.
Shirley S W Cheng, Kelvin Y K Chan, Kelphen K P Leung, Patrick K C Au, Wai-Keung Tam, Samuel K M Li, Ho-Ming Luk, Anita S Y Kan, Brian H Y Chung, Ivan F M Lo,[...]. Am J Med Genet C Semin Med Genet 2019
12
25

Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray.
Guorui Hu, Yanjie Fan, Lili Wang, Ru-En Yao, Xiaodong Huang, Yiping Shen, Yongguo Yu, Xuefan Gu. Mol Cytogenet 2016
6
25

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
Bradley P Coe, Holly A F Stessman, Arvis Sulovari, Madeleine R Geisheker, Trygve E Bakken, Allison M Lake, Joseph D Dougherty, Ed S Lein, Fereydoun Hormozdiari, Raphael A Bernier,[...]. Nat Genet 2019
95
25

Pax6 3' deletion results in aniridia, autism and mental retardation.
L K Davis, K J Meyer, D S Rudd, A L Librant, E A Epping, V C Sheffield, T H Wassink. Hum Genet 2008
72
25

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
353
25

Regulation of neuronal survival factor MEF2D by chaperone-mediated autophagy.
Qian Yang, Hua She, Marla Gearing, Emanuela Colla, Michael Lee, John J Shacka, Zixu Mao. Science 2009
223
25


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.