A citation-based method for searching scientific literature

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
Times Cited: 4







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



Times Cited
  Times     Co-cited
Similarity


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
47
75

The 15q11.2 BP1-BP2 microdeletion syndrome: a review.
Devin M Cox, Merlin G Butler. Int J Mol Sci 2015
92
75

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

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
177
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
156
50

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
89
50

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
39
50

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
50

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
25

Comparative genomic hybridisation.
M M Weiss, M A Hermsen, G A Meijer, N C van Grieken, J P Baak, E J Kuipers, P J van Diest. Mol Pathol 1999
110
25

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.
M T Carter, S M Nikkel, B A Fernandez, C R Marshall, A Noor, A C Lionel, A Prasad, D Pinto, A M Joseph-George, C Noakes,[...]. Clin Genet 2011
38
25


Wip1, a novel human protein phosphatase that is induced in response to ionizing radiation in a p53-dependent manner.
M Fiscella, H Zhang, S Fan, K Sakaguchi, S Shen, W E Mercer, G F Vande Woude, P M O'Connor, E Appella. Proc Natl Acad Sci U S A 1997
405
25

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
Janson White, Juliana F Mazzeu, Alexander Hoischen, Shalini N Jhangiani, Tomasz Gambin, Michele Calijorne Alcino, Samantha Penney, Jorge M Saraiva, Hanne Hove, Flemming Skovby,[...]. Am J Hum Genet 2015
66
25

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
M Cecilia Poli, Frédéric Ebstein, Sarah K Nicholas, Marietta M de Guzman, Lisa R Forbes, Ivan K Chinn, Emily M Mace, Tiphanie P Vogel, Alexandre F Carisey, Felipe Benavides,[...]. Am J Hum Genet 2018
48
25

Amplification of PPM1D in human tumors abrogates p53 tumor-suppressor activity.
Dmitry V Bulavin, Oleg N Demidov, Shin'ichi Saito, Paivikki Kauraniemi, Crissy Phillips, Sally A Amundson, Concetta Ambrosino, Guido Sauter, Angel R Nebreda, Carl W Anderson,[...]. Nat Genet 2002
327
25

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Johanna C Herkert, Elysa J Marco, Marjolein H Willemsen, Tjitske Kleefstra, Mark Hannibal,[...]. Am J Hum Genet 2017
26
25

PPM1D dephosphorylates Chk1 and p53 and abrogates cell cycle checkpoints.
Xiongbin Lu, Bonnie Nannenga, Lawrence A Donehower. Genes Dev 2005
283
25

Oncogenic properties of PPM1D located within a breast cancer amplification epicenter at 17q23.
Jing Li, Ying Yang, Yue Peng, Richard J Austin, Winfried G van Eyndhoven, Ken C Q Nguyen, Tim Gabriele, Mila E McCurrach, Jeffrey R Marks, Timothy Hoey,[...]. Nat Genet 2002
195
25

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
Janson J White, Juliana F Mazzeu, Alexander Hoischen, Yavuz Bayram, Marjorie Withers, Alper Gezdirici, Virginia Kimonis, Marloes Steehouwer, Shalini N Jhangiani, Donna M Muzny,[...]. Am J Hum Genet 2016
50
25

Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD.
D C Bittel, N Kibiryeva, Z Talebizadeh, M G Butler. J Med Genet 2003
36
25

Does variation in NIPA2 contribute to genetic generalized epilepsy?
Michael S Hildebrand, John A Damiano, Saul A Mullen, Susannah T Bellows, Ingrid E Scheffer, Samuel F Berkovic. Hum Genet 2014
6
25


[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
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
90
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
889
25

Fragile X syndrome and fragile X-associated disorders.
Akash Rajaratnam, Jasdeep Shergill, Maria Salcedo-Arellano, Wilmar Saldarriaga, Xianlai Duan, Randi Hagerman. F1000Res 2017
16
25

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.
Mohammed Uddin, Kristiina Tammimies, Giovanna Pellecchia, Babak Alipanahi, Pingzhao Hu, Zhuozhi Wang, Dalila Pinto, Lynette Lau, Thomas Nalpathamkalam, Christian R Marshall,[...]. Nat Genet 2014
98
25


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
376
25

Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies.
Johanna A Jähn, Sarah von Spiczak, Hiltrud Muhle, Tanja Obermeier, Andre Franke, Heather C Mefford, Ulrich Stephani, Ingo Helbig. Epilepsy Res 2014
15
25

Parental origin impairment of synaptic functions and behaviors in cytoplasmic FMRP interacting protein 1 (Cyfip1) deficient mice.
Leeyup Chung, Xiaoming Wang, Li Zhu, Aaron J Towers, Xinyu Cao, Il Hwan Kim, Yong-hui Jiang. Brain Res 2015
13
25


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
69
25

Cyfip1 Regulates Presynaptic Activity during Development.
Kuangfu Hsiao, Hala Harony-Nicolas, Joseph D Buxbaum, Ozlem Bozdagi-Gunal, Deanna L Benson. J Neurosci 2016
28
25

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
25

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
25

Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene.
D Arkadir, A Noreau, J S Goldman, G A Rouleau, R N Alcvalay. Eur J Neurol 2014
4
25

Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.
Karen S Ho, Sarah T South, Amanda Lortz, Charles H Hensel, Mallory R Sdano, Rena J Vanzo, Megan M Martin, Andreas Peiffer, Christophe G Lambert, Amy Calhoun,[...]. J Med Genet 2016
26
25


Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.
B B de Vries, J P Fryns, M G Butler, F Canziani, E Wesby-van Swaay, J O van Hemel, B A Oostra, D J Halley, M F Niermeijer. J Med Genet 1993
64
25

Molecular Karyotyping in Children and Adolescents with Gender Dysphoria.
Ken C Pang, Debi Feldman, Ralph Oertel, Michelle Telfer. Transgend Health 2018
3
33

Fragile X mental retardation protein (FMRP) interacting proteins exhibit different expression patterns during development.
C M Bonaccorso, M Spatuzza, B Di Marco, A Gloria, G Barrancotto, A Cupo, S A Musumeci, S D'Antoni, B Bardoni, M V Catania. Int J Dev Neurosci 2015
28
25

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
Margot R F Reijnders, Nurhuda M Ansor, Maria Kousi, Wyatt W Yue, Perciliz L Tan, Katie Clarkson, Jill Clayton-Smith, Ken Corning, Julie R Jones, Wayne W K Lam,[...]. Am J Hum Genet 2017
49
25

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.
Ricky S Joshi, Paras Garg, Noah Zaitlen, Tuuli Lappalainen, Corey T Watson, Nidha Azam, Daniel Ho, Xin Li, Stylianos E Antonarakis, Han G Brunner,[...]. Am J Hum Genet 2016
31
25

An assessment of sex bias in neurodevelopmental disorders.
Andrew Polyak, Jill A Rosenfeld, Santhosh Girirajan. Genome Med 2015
40
25

Functional study of NIPA2 mutations identified from the patients with childhood absence epilepsy.
Han Xie, Yuehua Zhang, Pingping Zhang, Jingmin Wang, Ye Wu, Xiru Wu, Theoden Netoff, Yuwu Jiang. PLoS One 2014
15
25

A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project.
Latarsha J Carithers, Kristin Ardlie, Mary Barcus, Philip A Branton, Angela Britton, Stephen A Buia, Carolyn C Compton, David S DeLuca, Joanne Peter-Demchok, Ellen T Gelfand,[...]. Biopreserv Biobank 2015
307
25

Rare missense TUBGCP5 gene variant in a patient with primary microcephaly.
Aleš Maver, Goran Čuturilo, Anja Kovanda, Aleksandra Miletić, Borut Peterlin. Eur J Med Genet 2019
9
25

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
36
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.