A citation-based method for searching scientific literature

Aia Elise Jønch, Elise Douard, Clara Moreau, Anke Van Dijck, Marzia Passeggeri, Frank Kooy, Jacques Puechberty, Carolyn Campbell, Damien Sanlaville, Henrietta Lefroy, Sonia Richetin, Aurelie Pain, David Geneviève, Usha Kini, Cédric Le Caignec, James Lespinasse, Anne-Bine Skytte, Bertrand Isidor, Christiane Zweier, Jean-Hubert Caberg, Marie-Ange Delrue, Rikke Steensbjerre Møller, Anders Bojesen, Helle Hjalgrim, Charlotte Brasch-Andersen, Emmanuelle Lemyre, Lilian Bomme Ousager, Sébastien Jacquemont. J Med Genet 2019
Times Cited: 14







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



Times Cited
  Times     Co-cited
Similarity


Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition.
Dennis van der Meer, Ida E Sønderby, Tobias Kaufmann, G Bragi Walters, Abdel Abdellaoui, David Ames, Katrin Amunts, Micael Andersson, Nicola J Armstrong, Manon Bernard,[...]. JAMA Psychiatry 2020
20
50

CNVs conferring risk of autism or schizophrenia affect cognition in controls.
Hreinn Stefansson, Andreas Meyer-Lindenberg, Stacy Steinberg, Brynja Magnusdottir, Katrin Morgen, Sunna Arnarsdottir, Gyda Bjornsdottir, G Bragi Walters, Gudrun A Jonsdottir, Orla M Doyle,[...]. Nature 2014
371
50

The 15q11.2 BP1-BP2 microdeletion syndrome: a review.
Devin M Cox, Merlin G Butler. Int J Mol Sci 2015
94
50

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.
Rachel D Burnside, Romela Pasion, Fady M Mikhail, Andrew J Carroll, Nathaniel H Robin, Erin L Youngs, Inder K Gadi, Elizabeth Keitges, Vikram L Jaswaney, Peter R Papenhausen,[...]. Hum Genet 2011
159
42

Estimates of penetrance for recurrent pathogenic copy-number variations.
Jill A Rosenfeld, Bradley P Coe, Evan E Eichler, Howard Cuckle, Lisa G Shaffer. Genet Med 2013
184
35

Reciprocal White Matter Changes Associated With Copy Number Variation at 15q11.2 BP1-BP2: A Diffusion Tensor Imaging Study.
Ana I Silva, Magnus O Ulfarsson, Hreinn Stefansson, Omar Gustafsson, G Bragi Walters, David E J Linden, Lawrence S Wilkinson, Mark Drakesmith, Michael J Owen, Jeremy Hall,[...]. Biol Psychiatry 2019
18
35

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.
Christian R Marshall, Daniel P Howrigan, Daniele Merico, Bhooma Thiruvahindrapuram, Wenting Wu, Douglas S Greer, Danny Antaki, Aniket Shetty, Peter A Holmans, Dalila Pinto,[...]. Nat Genet 2017
398
35


15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
Clémence Vanlerberghe, Florence Petit, Valérie Malan, Catherine Vincent-Delorme, Sonia Bouquillon, Odile Boute, Muriel Holder-Espinasse, Bruno Delobel, Bénédicte Duban, Louis Vallee,[...]. Eur J Med Genet 2015
49
28

Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank.
Kimberley M Kendall, Matthew Bracher-Smith, Harry Fitzpatrick, Amy Lynham, Elliott Rees, Valentina Escott-Price, Michael J Owen, Michael C O'Donovan, James T R Walters, George Kirov. Br J Psychiatry 2019
31
28

Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects.
Kimberley M Kendall, Elliott Rees, Valentina Escott-Price, Mark Einon, Rhys Thomas, Jonathan Hewitt, Michael C O'Donovan, Michael J Owen, James T R Walters, George Kirov. Biol Psychiatry 2017
74
28

Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis.
K Naga Mohan, Ye Cao, Justin Pham, Sau Wai Cheung, Lori Hoffner, Z Zishuo Ou, Urvashi Surti, Edwin H Cook, Arthur L Beaudet. J Hum Genet 2019
7
57


22q11.2 deletion syndrome.
Donna M McDonald-McGinn, Kathleen E Sullivan, Bruno Marino, Nicole Philip, Ann Swillen, Jacob A S Vorstman, Elaine H Zackai, Beverly S Emanuel, Joris R Vermeesch, Bernice E Morrow,[...]. Nat Rev Dis Primers 2015
381
28

15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia.
M O Ulfarsson, G B Walters, O Gustafsson, S Steinberg, A Silva, O M Doyle, M Brammer, D F Gudbjartsson, S Arnarsdottir, G A Jonsdottir,[...]. Transl Psychiatry 2017
37
21

Large recurrent microdeletions associated with schizophrenia.
Hreinn Stefansson, Dan Rujescu, Sven Cichon, Olli P H Pietiläinen, Andres Ingason, Stacy Steinberg, Ragnheidur Fossdal, Engilbert Sigurdsson, Thordur Sigmundsson, Jacobine E Buizer-Voskamp,[...]. Nature 2008
21

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.
Marianne Doornbos, Birgit Sikkema-Raddatz, Claudia A L Ruijvenkamp, Trijnie Dijkhuizen, Emilia K Bijlsma, Antoinet C J Gijsbers, Yvonne Hilhorst-Hofstee, Roel Hordijk, Krijn T Verbruggen, W S Mieke Kerstjens-Frederikse,[...]. Eur J Med Genet 2009
115
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
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
803
21

Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples.
Guillaume Huguet, Catherine Schramm, Elise Douard, Lai Jiang, Aurélie Labbe, Frédérique Tihy, Géraldine Mathonnet, Sonia Nizard, Emmanuelle Lemyre, Alexandre Mathieu,[...]. JAMA Psychiatry 2018
36
21

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
38
21

Clinical phenotype of the recurrent 1q21.1 copy-number variant.
Raphael Bernier, Kyle J Steinman, Beau Reilly, Arianne Stevens Wallace, Elliott H Sherr, Nicholas Pojman, Heather C Mefford, Jennifer Gerdts, Rachel Earl, Ellen Hanson,[...]. Genet Med 2016
73
21

Genetic counseling for susceptibility loci and neurodevelopmental disorders: the del15q11.2 as an example.
Veerle De Wolf, Nathalie Brison, Koenraad Devriendt, Hilde Peeters. Am J Med Genet A 2013
41
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
311
14

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.
Rachel Soemedi, Ian J Wilson, Jamie Bentham, Rebecca Darlay, Ana Töpf, Diana Zelenika, Catherine Cosgrove, Kerry Setchfield, Chris Thornborough, Javier Granados-Riveron,[...]. Am J Hum Genet 2012
180
14

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.
Juan Geng, Jonathan Picker, Zhaojing Zheng, Xiaoqing Zhang, Jian Wang, Fuki Hisama, David W Brown, Mary P Mullen, David Harris, Joan Stoler,[...]. BMC Genomics 2014
45
14

15q11.2 microdeletion - seven new patients with delayed development and/or behavioural problems.
C von der Lippe, C Rustad, K Heimdal, O K Rødningen. Eur J Med Genet 2011
30
14

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
Joseph T Glessner, Alexander G Bick, Kaoru Ito, Jason Homsy, Laura Rodriguez-Murillo, Menachem Fromer, Erica Mazaika, Badri Vardarajan, Michael Italia, Jeremy Leipzig,[...]. Circ Res 2014
128
14

NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter.
Angela Goytain, Rochelle M Hines, Alaa El-Husseini, Gary A Quamme. J Biol Chem 2007
91
14

Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: further delineation of an emerging syndrome.
Michiala Cafferkey, Joo Wook Ahn, Frances Flinter, Caroline Ogilvie. Am J Med Genet A 2014
35
14

Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion.
Yukiko Kuroda, Ikuko Ohashi, Takuya Naruto, Kazumi Ida, Yumi Enomoto, Toshiyuki Saito, Jun-Ichi Nagai, Sadamitsu Yanagi, Hideaki Ueda, Kenji Kurosawa. J Hum Genet 2018
5
40

Prenatal diagnosis of a familial 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction on prenatal ultrasound.
Chih-Ping Chen, Shu-Yuan Chang, Liang-Kai Wang, Tung-Yao Chang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang,[...]. Taiwan J Obstet Gynecol 2018
8
25

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.
Mary Ella Pierpont, Martina Brueckner, Wendy K Chung, Vidu Garg, Ronald V Lacro, Amy L McGuire, Seema Mital, James R Priest, William T Pu, Amy Roberts,[...]. Circulation 2018
101
14

Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts.
D Wong, S M Johnson, D Young, L Iwamoto, S Sood, T P Slavin. Case Rep Genet 2013
16
14

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons.
Miguel Angel Pujana, Marga Nadal, Miriam Guitart, Lluís Armengol, Mònica Gratacòs, Xavier Estivill. Eur J Hum Genet 2002
77
14

Familial transmission of recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 associated with phenotypic variability in developmental, speech, and motor delay.
Chih-Ping Chen, Shuan-Pei Lin, Chung-Lin Lee, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Wayseen Wang. Taiwan J Obstet Gynecol 2017
10
20

Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11.2 (BP1-BP2) deletion in the UK Biobank.
Simon G Williams, Apostol Nakev, Hui Guo, Simon Frain, Gennadiy Tenin, Anna Liakhovitskaia, Priyanka Saha, James R Priest, Kathryn E Hentges, Bernard D Keavney. Eur J Hum Genet 2020
3
66

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
14

Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population.
Bita Hashemi, Anne Bassett, David Chitayat, Karen Chong, Mark Feldman, Janine Flanagan, Sharan Goobie, Anne Kawamura, Chelsea Lowther, Chitra Prasad,[...]. Am J Med Genet A 2015
26
14

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
14


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
136
14

A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.
Bert van der Zwaag, Wouter G Staal, Ron Hochstenbach, Martin Poot, Henk A Spierenburg, Maretha V de Jonge, Nienke E Verbeek, Ruben van 't Slot, Michael A van Es, Frank J Staal,[...]. Am J Med Genet B Neuropsychiatr Genet 2010
69
14

Chromosomal microarray analysis in fetuses with congenital anomalies of the kidney and urinary tract: A prospective cohort study and meta-analysis.
Shuyuan Li, Xu Han, Yanlin Wang, Songchang Chen, Jianmei Niu, Zhaoxia Qian, Pin Li, Li Jin, Chenming Xu. Prenat Diagn 2019
6
33

Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada.
Christine M Armour, Shelley Danielle Dougan, Jo-Ann Brock, Radha Chari, Bernie N Chodirker, Isabelle DeBie, Jane A Evans, William T Gibson, Elena Kolomietz, Tanya N Nelson,[...]. J Med Genet 2018
28
14

NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy.
Yuwu Jiang, Yuehua Zhang, Pingping Zhang, Tian Sang, Feng Zhang, Taoyun Ji, Qionghui Huang, Han Xie, Renqian Du, Bin Cai,[...]. Hum Genet 2012
25
14



Genotype-phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study.
Samuel J R A Chawner, Michael J Owen, Peter Holmans, F Lucy Raymond, David Skuse, Jeremy Hall, Marianne B M van den Bree. Lancet Psychiatry 2019
32
14

1q21.1 Microduplication expression in adults.
Alessia Dolcetti, Candice K Silversides, Christian R Marshall, Anath C Lionel, Dimitri J Stavropoulos, Stephen W Scherer, Anne S Bassett. Genet Med 2013
58
14


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.