A citation-based method for searching scientific literature

Michiala Cafferkey, Joo Wook Ahn, Frances Flinter, Caroline Ogilvie. Am J Med Genet A 2014
Times Cited: 35







List of co-cited articles
151 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
57

The 15q11.2 BP1-BP2 microdeletion syndrome: a review.
Devin M Cox, Merlin G Butler. Int J Mol Sci 2015
95
45

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
37

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
37

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
37

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
37

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
34


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
31


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
31

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
28

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
31

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
27
37

Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.
Pauline Chaste, Stephan J Sanders, Kommu N Mohan, Lambertus Klei, Youeun Song, Michael T Murtha, Vanessa Hus, Jennifer K Lowe, A Jeremy Willsey, Daniel Moreno-De-Luca,[...]. Autism Res 2014
44
25

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
29

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
22

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
43

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
20

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
17

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
17


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
182
17

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
17

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
17

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
20


BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications.
D P Locke, R Segraves, R D Nicholls, S Schwartz, D Pinkel, D G Albertson, E E Eichler. J Med Genet 2004
70
14

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
14

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
50

15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism.
Irene Madrigal, Laia Rodríguez-Revenga, Mar Xunclà, Montserrat Milà. Gene 2012
16
31

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

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
14

Prader-Willi syndrome.
Suzanne B Cassidy, Stuart Schwartz, Jennifer L Miller, Daniel J Driscoll. Genet Med 2012
609
14

Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR.
A Oguro-Ando, C Rosensweig, E Herman, Y Nishimura, D Werling, B R Bill, J M Berg, F Gao, G Coppola, B S Abrahams,[...]. Mol Psychiatry 2015
67
14

Genetic and morphological features of human iPSC-derived neurons with chromosome 15q11.2 (BP1-BP2) deletions.
D K Das, V Tapias, L D'Aiuto, K V Chowdari, L Francis, Y Zhi, Bhattacharjee A Ghosh, U Surti, J Tischfield, M Sheldon,[...]. Mol Neuropsychiatry 2015
26
19


A genome-wide CNV analysis of schizophrenia reveals a potential role for a multiple-hit model.
Danielle S Rudd, Michael Axelsen, Eric A Epping, Nancy C Andreasen, Thomas H Wassink. Am J Med Genet B Neuropsychiatr Genet 2014
19
21

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
11

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
11

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
11

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.
Trilochan Sahoo, Carlos A Bacino, Jennifer R German, Chad A Shaw, Lynne M Bird, Virginia Kimonis, Irinia Anselm, Susan Waisbren, Arthur L Beaudet, Sarika U Peters. Eur J Hum Genet 2007
58
11

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
11

CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation.
Silvia De Rubeis, Emanuela Pasciuto, Ka Wan Li, Esperanza Fernández, Daniele Di Marino, Andrea Buzzi, Linnaea E Ostroff, Eric Klann, Fried J T Zwartkruis, Noboru H Komiyama,[...]. Neuron 2013
152
11

Angelman syndrome 2005: updated consensus for diagnostic criteria.
Charles A Williams, Arthur L Beaudet, Jill Clayton-Smith, Joan H Knoll, Martin Kyllerman, Laura A Laan, R Ellen Magenis, Ann Moncla, Albert A Schinzel, Jane A Summers,[...]. Am J Med Genet A 2006
327
11

[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
33

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
11

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).
S L Christian, J A Fantes, S K Mewborn, B Huang, D H Ledbetter. Hum Mol Genet 1999
192
11

Rare CNVs and tag SNPs at 15q11.2 are associated with schizophrenia in the Han Chinese population.
Qian Zhao, Tao Li, XinZhi Zhao, Ke Huang, Ti Wang, ZhiQiang Li, Jue Ji, Zhen Zeng, Zhao Zhang, Kan Li,[...]. Schizophr Bull 2013
38
11

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
8


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.