A citation-based method for searching scientific literature

Michael S Hildebrand, John A Damiano, Saul A Mullen, Susannah T Bellows, Ingrid E Scheffer, Samuel F Berkovic. Hum Genet 2014
Times Cited: 6







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



Times Cited
  Times     Co-cited
Similarity


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
83

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
66

NIPA2 mutations are correlative with childhood absence epilepsy in the Han Chinese population.
Yuwu Jiang, Yuehua Zhang, Pingping Zhang, Feng Zhang, Han Xie, Piu Chan, Xiru Wu. Hum Genet 2014
6
66


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
66

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
381
50

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
131
50

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
50

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


Functional characterization of NIPA2, a selective Mg2+ transporter.
Angela Goytain, Rochelle M Hines, Gary A Quamme. Am J Physiol Cell Physiol 2008
54
33

The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1.
Emmanuel J Botzolakis, Jiali Zhao, Katharine N Gurba, Robert L Macdonald, Peter Hedera. Mol Cell Neurosci 2011
20
33



[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



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
33

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
33

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
33

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
33

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
33

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
33

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
170
33

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
33


Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics.
Linn Fagerberg, Björn M Hallström, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund,[...]. Mol Cell Proteomics 2014
33

Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Chiara Picinelli, Carla Lintas, Ignazio Stefano Piras, Stefano Gabriele, Roberto Sacco, Claudia Brogna, Antonio Maria Persico. Am J Med Genet B Neuropsychiatr Genet 2016
20
33

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
33

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
33

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
33

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
33

Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
Jacob A Tennessen, Abigail W Bigham, Timothy D O'Connor, Wenqing Fu, Eimear E Kenny, Simon Gravel, Sean McGee, Ron Do, Xiaoming Liu, Goo Jun,[...]. Science 2012
16

Stress management at the ER: regulators of ER stress-induced apoptosis.
Adrienne M Gorman, Sandra J M Healy, Richard Jäger, Afshin Samali. Pharmacol Ther 2012
245
16

A new approach for measurement of cytotoxicity using colorimetric assay.
R F Hussain, A M Nouri, R T Oliver. J Immunol Methods 1993
250
16

Magnesium modulates amyloid-beta protein precursor trafficking and processing.
Jia Yu, Miao Sun, Zheng Chen, Jiangyang Lu, Yi Liu, Liang Zhou, Xuemin Xu, Dongsheng Fan, Dehua Chui. J Alzheimers Dis 2010
31
16


Magnesium gates glutamate-activated channels in mouse central neurones.
L Nowak, P Bregestovski, P Ascher, A Herbet, A Prochiantz. Nature 1984
16




Functional analysis of Ca3.2 T-type calcium channel mutations linked to childhood absence epilepsy.
Jean B Peloquin, Houman Khosravani, Wendy Barr, Chris Bladen, Rhian Evans, Janette Mezeyova, David Parker, Terrance P Snutch, John E McRory, Gerald W Zamponi. Epilepsia 2006
44
16


Insight into renal Mg2+ transporters.
Silvia Ferrè, Joost G J Hoenderop, René J M Bindels. Curr Opin Nephrol Hypertens 2011
21
16

Mechanisms of generalized absence epilepsy.
Y Futatsugi, J J Riviello. Brain Dev 1998
56
16



Association between genetic variation of CACNA1H and childhood absence epilepsy.
Yucai Chen, Jianjun Lu, Hong Pan, Yuehua Zhang, Husheng Wu, Keming Xu, Xiaoyan Liu, Yuwu Jiang, Xinhua Bao, Zhijian Yao,[...]. Ann Neurol 2003
256
16

New variants in the CACNA1H gene identified in childhood absence epilepsy.
Jianmin Liang, Yuehua Zhang, Juli Wang, Hong Pan, Husheng Wu, Keming Xu, Xiaoyan Liu, Yuwu Jiang, Yan Shen, Xiru Wu. Neurosci Lett 2006
36
16

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
16


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.