A citation-based method for searching scientific literature

Irene Madrigal, Laia Rodríguez-Revenga, Mar Xunclà, Montserrat Milà. Gene 2012
Times Cited: 16







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



Times Cited
  Times     Co-cited
Similarity


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
62

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
62


Haploinsufficiency of Cyfip1 produces fragile X-like phenotypes in mice.
Ozlem Bozdagi, Takeshi Sakurai, Nathan Dorr, Marion Pilorge, Nagahide Takahashi, Joseph D Buxbaum. PLoS One 2012
72
56

15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features.
Ahmed T Abdelmoity, Jean-Baptiste LePichon, Sarah S Nyp, Sarah E Soden, Carol A Daniel, Shihui Yu. J Dev Behav Pediatr 2012
32
56

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
31
56

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
50


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
43

The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP.
Ilaria Napoli, Valentina Mercaldo, Pietro Pilo Boyl, Boris Eleuteri, Francesca Zalfa, Silvia De Rubeis, Daniele Di Marino, Evita Mohr, Marzia Massimi, Mattia Falconi,[...]. Cell 2008
383
43

NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).
Shirley Rainier, Jing-Hua Chai, Debra Tokarz, Robert D Nicholls, John K Fink. Am J Hum Genet 2003
132
43

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
43

[15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity].
A Sempere Pérez, I Manchón Trives, I Palazón Azorín, L Alcaraz Más, E Pérez Lledó, F Galán Sánchez. An Pediatr (Barc) 2011
12
50

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
185
37

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
355
37

Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy.
Merlin G Butler, Douglas C Bittel, Nataliya Kibiryeva, Zohreh Talebizadeh, Travis Thompson. Pediatrics 2004
171
37


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
31

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
413
31


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
31

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia.
George Kirov, Detelina Grozeva, Nadine Norton, Dobril Ivanov, Kiran K Mantripragada, Peter Holmans, Nick Craddock, Michael J Owen, Michael C O'Donovan. Hum Mol Genet 2009
305
31

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
375
31

CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.
Annette Schenck, Barbara Bardoni, Caillin Langmann, Nicholas Harden, Jean Louis Mandel, Angela Giangrande. Neuron 2003
242
31

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
31

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
31

Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype.
Katja M Milner, Ellen E Craig, Russell J Thompson, Marijcke W M Veltman, N Simon Thomas, Sian Roberts, Margaret Bellamy, Sarah R Curran, Caroline M J Sporikou, Patrick F Bolton. J Child Psychol Psychiatry 2005
105
25

Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.
Suqin Chen, Chun Song, Hui Guo, Pingyi Xu, Weijun Huang, Yan Zhou, Jiandong Sun, Cai-Xia Li, Yong Du, Xunhua Li,[...]. Hum Mutat 2005
38
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
419
25


FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism.
Jennifer C Darnell, Sarah J Van Driesche, Chaolin Zhang, Ka Ying Sharon Hung, Aldo Mele, Claire E Fraser, Elizabeth F Stone, Cynthia Chen, John J Fak, Sung Wook Chi,[...]. Cell 2011
25

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
25

Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?
K M Usrey, C A Williams, M Dasouki, L C Fairbrother, M G Butler. Case Rep Genet 2014
10
40


The 15q11.2 BP1-BP2 microdeletion syndrome: a review.
Devin M Cox, Merlin G Butler. Int J Mol Sci 2015
95
25

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
25


Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Claire S Leblond, Jutta Heinrich, Richard Delorme, Christian Proepper, Catalina Betancur, Guillaume Huguet, Marina Konyukh, Pauline Chaste, Elodie Ey, Maria Rastam,[...]. PLoS Genet 2012
263
18


A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.
Heather C Mefford, Gregory M Cooper, Troy Zerr, Joshua D Smith, Carl Baker, Neil Shafer, Erik C Thorland, Cindy Skinner, Charles E Schwartz, Deborah A Nickerson,[...]. Genome Res 2009
102
18

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
18

Functional characterization of NIPA2, a selective Mg2+ transporter.
Angela Goytain, Rochelle M Hines, Gary A Quamme. Am J Physiol Cell Physiol 2008
54
18

Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations.
T Sahoo, S U Peters, N S Madduri, D G Glaze, J R German, L M Bird, R Barbieri-Welge, T J Bichell, A L Beaudet, C A Bacino. J Med Genet 2006
62
18

Behavioural disorders induced by external globus pallidus dysfunction in primates: I. Behavioural study.
David Grabli, Kevin McCairn, Etienne C Hirsch, Yves Agid, Jean Féger, Chantal François, Léon Tremblay. Brain 2004
158
18

Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome.
Sigan L Hartley, William E Maclean, Merlin G Butler, Jennifer Zarcone, Travis Thompson. Am J Med Genet A 2005
69
18

Altered synaptic plasticity in a mouse model of fragile X mental retardation.
Kimberly M Huber, Sean M Gallagher, Stephen T Warren, Mark F Bear. Proc Natl Acad Sci U S A 2002
940
18

Drosophila fragile X-related gene regulates the MAP1B homolog Futsch to control synaptic structure and function.
Y Q Zhang, A M Bailey, H J Matthies, R B Renden, M A Smith, S D Speese, G M Rubin, K Broadie. Cell 2001
495
18

Cell motility: braking WAVEs.
Giles O C Cory, Anne J Ridley. Nature 2002
48
18

Fragile X Syndrome: from molecular pathology to therapy.
Thomas Maurin, Samantha Zongaro, Barbara Bardoni. Neurosci Biobehav Rev 2014
56
18

FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.
Marie Castets, Céline Schaeffer, Elias Bechara, Annette Schenck, Edward W Khandjian, Sylvie Luche, Hervé Moine, Thierry Rabilloud, Jean-Louis Mandel, Barbara Bardoni. Hum Mol Genet 2005
115
18


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.