A citation-based method for searching scientific literature

Dana Hollenbeck, Crescenda L Williams, Kathryn Drazba, Maria Descartes, Bruce R Korf, S Lane Rutledge, Edward J Lose, Nathaniel H Robin, Andrew J Carroll, Fady M Mikhail. Genet Med 2017
Times Cited: 12







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



Times Cited
  Times     Co-cited
Similarity


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
33

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.
Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera, Sarah T South. Genet Med 2011
533
33

Familial craniosynostosis associated with a microdeletion involving the NFIA gene.
Daniel Nyboe, Sven Kreiborg, Maria Kirchhoff, Hanne B Hove. Clin Dysmorphol 2015
14
25


Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.
Fady M Mikhail, Edward J Lose, Nathaniel H Robin, Maria D Descartes, Katherine D Rutledge, S Lane Rutledge, Bruce R Korf, Andrew J Carroll. Am J Med Genet A 2011
118
25

Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum.
L das Neves, C S Duchala, F Tolentino-Silva, M A Haxhiu, C Colmenares, W B Macklin, C E Campbell, K G Butz, R M Gronostajski. Proc Natl Acad Sci U S A 1999
171
25

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
Weining Lu, Fabiola Quintero-Rivera, Yanli Fan, Fowzan S Alkuraya, Diana J Donovan, Qiongchao Xi, Annick Turbe-Doan, Qing-Gang Li, Craig G Campbell, Alan L Shanske,[...]. PLoS Genet 2007
73
25

A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.
Udo Koehler, Elke Holinski-Feder, Birgit Ertl-Wagner, Juergen Kunz, Arpad von Moers, Hubertus von Voss, Chayim Schell-Apacik. Eur J Pediatr 2010
25
25

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth.
Menachem Fromer, Jennifer L Moran, Kimberly Chambert, Eric Banks, Sarah E Bergen, Douglas M Ruderfer, Robert E Handsaker, Steven A McCarroll, Michael C O'Donovan, Michael J Owen,[...]. Am J Hum Genet 2012
341
16

The promise of whole-exome sequencing in medical genetics.
Bahareh Rabbani, Mustafa Tekin, Nejat Mahdieh. J Hum Genet 2014
239
16





Truncating mutation in NFIA causes brain malformation and urinary tract defects.
Yutaka Negishi, Fuyuki Miya, Ayako Hattori, Kentaro Mizuno, Ikumi Hori, Naoki Ando, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki,[...]. Hum Genome Var 2015
10
20

Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene.
Allan Bayat, Maria Kirchhoff, Camilla G Madsen, Laura Roos, Sven Kreiborg. Clin Dysmorphol 2017
3
66

De novo gene disruptions in children on the autistic spectrum.
Ivan Iossifov, Michael Ronemus, Dan Levy, Zihua Wang, Inessa Hakker, Julie Rosenbaum, Boris Yamrom, Yoon-Ha Lee, Giuseppe Narzisi, Anthony Leotta,[...]. Neuron 2012
916
16

An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.
Anupam Rao, Sheridan O'Donnell, Nicole Bain, Cliff Meldrum, Damon Shorter, Himanshu Goel. Eur J Med Genet 2014
24
16

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.
Murim Choi, Ute I Scholl, Weizhen Ji, Tiewen Liu, Irina R Tikhonova, Paul Zumbo, Ahmet Nayir, Ayşin Bakkaloğlu, Seza Ozen, Sami Sanjad,[...]. Proc Natl Acad Sci U S A 2009
842
16

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
820
16

The clinical significance of small copy number variants in neurodevelopmental disorders.
Reza Asadollahi, Beatrice Oneda, Pascal Joset, Silvia Azzarello-Burri, Deborah Bartholdi, Katharina Steindl, Marie Vincent, Joana Cobilanschi, Heinrich Sticht, Rosa Baldinger,[...]. J Med Genet 2014
57
16


NFIB is a governor of epithelial-melanocyte stem cell behaviour in a shared niche.
Chiung-Ying Chang, H Amalia Pasolli, Eugenia G Giannopoulou, Géraldine Guasch, Richard M Gronostajski, Olivier Elemento, Elaine Fuchs. Nature 2013
102
16

Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum.
Ilan Gobius, Laura Morcom, Rodrigo Suárez, Jens Bunt, Polina Bukshpun, William Reardon, William B Dobyns, John L R Rubenstein, A James Barkovich, Elliott H Sherr,[...]. Cell Rep 2016
41
16

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Ina Schanze, Jens Bunt, Jonathan W C Lim, Denny Schanze, Ryan J Dean, Marielle Alders, Patricia Blanchet, Tania Attié-Bitach, Siren Berland, Steven Boogert,[...]. Am J Hum Genet 2018
15
16

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.
Anya Revah-Politi, Mythily Ganapathi, Louise Bier, Megan T Cho, David B Goldstein, Parisa Hemati, Alejandro Iglesias, Jane Juusola, John Pappas, Slavé Petrovski,[...]. Am J Med Genet A 2017
6
33


The transcription factor Nfix is essential for normal brain development.
Christine E Campbell, Michael Piper, Céline Plachez, Yu-Ting Yeh, Joan S Baizer, Jason M Osinski, E David Litwack, Linda J Richards, Richard M Gronostajski. BMC Dev Biol 2008
111
16

Targeted capture and massively parallel sequencing of 12 human exomes.
Sarah B Ng, Emily H Turner, Peggy D Robertson, Steven D Flygare, Abigail W Bigham, Choli Lee, Tristan Shaffer, Michelle Wong, Arindam Bhattacharjee, Evan E Eichler,[...]. Nature 2009
8

Exome sequence read depth methods for identifying copy number changes.
Latha Kadalayil, Sajjad Rafiq, Matthew J J Rose-Zerilli, Reuben J Pengelly, Helen Parker, David Oscier, Jonathan C Strefford, William J Tapper, Jane Gibson, Sarah Ennis,[...]. Brief Bioinform 2015
49
8

Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Christopher S Poultney, Arthur P Goldberg, Elodie Drapeau, Yan Kou, Hala Harony-Nicolas, Yuji Kajiwara, Silvia De Rubeis, Simon Durand, Christine Stevens, Karola Rehnström,[...]. Am J Hum Genet 2013
107
8

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives.
Min Zhao, Qingguo Wang, Quan Wang, Peilin Jia, Zhongming Zhao. BMC Bioinformatics 2013
267
8

Identification of copy number variants from exome sequence data.
Pubudu Saneth Samarakoon, Hanne Sørmo Sorte, Bjørn Evert Kristiansen, Tove Skodje, Ying Sheng, Geir E Tjønnfjord, Barbro Stadheim, Asbjørg Stray-Pedersen, Olaug Kristin Rødningen, Robert Lyle. BMC Genomics 2014
41
8

Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes.
Desheng Liang, Ying Peng, Weigang Lv, Linbei Deng, Yanghui Zhang, Haoxian Li, Pu Yang, Jianguang Zhang, Zhuo Song, Genming Xu,[...]. J Mol Diagn 2014
68
8



Exome sequencing and whole genome sequencing for the detection of copy number variation.
Jayne Y Hehir-Kwa, Rolph Pfundt, Joris A Veltman. Expert Rev Mol Diagn 2015
46
8

Mapping copy number variation by population-scale genome sequencing.
Ryan E Mills, Klaudia Walter, Chip Stewart, Robert E Handsaker, Ken Chen, Can Alkan, Alexej Abyzov, Seungtai Chris Yoon, Kai Ye, R Keira Cheetham,[...]. Nature 2011
714
8

The complete genome sequence of the plant growth-promoting bacterium Pseudomonas sp. UW4.
Jin Duan, Wei Jiang, Zhenyu Cheng, John J Heikkila, Bernard R Glick. PLoS One 2013
119
8

Comparison of sequencing based CNV discovery methods using monozygotic twin quartets.
Marc-André Legault, Simon Girard, Louis-Philippe Lemieux Perreault, Guy A Rouleau, Marie-Pierre Dubé. PLoS One 2015
10
10

Copy number variants, aneuploidies, and human disease.
Christa Lese Martin, Brianne E Kirkpatrick, David H Ledbetter. Clin Perinatol 2015
36
8

Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities.
Francesco Fiorentino, Stefania Napoletano, Fiorina Caiazzo, Mariateresa Sessa, Sara Bono, Letizia Spizzichino, Anthony Gordon, Andrea Nuccitelli, Giuseppe Rizzo, Marina Baldi. Eur J Hum Genet 2013
62
8

Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with Tetralogy of Fallot.
Vikas Bansal, Cornelia Dorn, Marcel Grunert, Sabine Klaassen, Roland Hetzer, Felix Berger, Silke R Sperling. PLoS One 2014
15
8

Detection of clinically relevant exonic copy-number changes by array CGH.
Philip M Boone, Carlos A Bacino, Chad A Shaw, Patricia A Eng, Patricia M Hixson, Amber N Pursley, Sung-Hae L Kang, Yaping Yang, Joanna Wiszniewska, Beata A Nowakowska,[...]. Hum Mutat 2010
185
8

An evaluation of copy number variation detection tools from whole-exome sequencing data.
Renjie Tan, Yadong Wang, Sarah E Kleinstein, Yongzhuang Liu, Xiaolin Zhu, Hongzhe Guo, Qinghua Jiang, Andrew S Allen, Mingfu Zhu. Hum Mutat 2014
125
8

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.
Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Ryoko Fukai, Eri Imagawa, Chihiro Ohba, Ichiro Kuki, Megumi Nukui, Atsushi Araki, Yoshio Makita,[...]. J Hum Genet 2015
42
8

Structural variation of the human genome.
Andrew J Sharp, Ze Cheng, Evan E Eichler. Annu Rev Genomics Hum Genet 2006
158
8

Comparative study of exome copy number variation estimation tools using array comparative genomic hybridization as control.
Yan Guo, Quanghu Sheng, David C Samuels, Brian Lehmann, Joshua A Bauer, Jennifer Pietenpol, Yu Shyr. Biomed Res Int 2013
35
8


Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data.
Menachem Fromer, Shaun M Purcell. Curr Protoc Hum Genet 2014
92
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.