A citation-based method for searching scientific literature

Jill A Rosenfeld, Bradley P Coe, Evan E Eichler, Howard Cuckle, Lisa G Shaffer. Genet Med 2013
Times Cited: 174







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



Times Cited
  Times     Co-cited
Similarity



Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?
Malgorzata I Srebniak, Laura J C M van Zutven, Florence Petit, Sonia Bouquillon, Ilse P J van Heel, Maarten F C M Knapen, Jerome M J Cornette, Andreas Kremer, Diane Van Opstal, Karin E M Diderich. Mol Cytogenet 2016
5
60

Expanding the phenotype associated with 17q12 duplication: case report and review of the literature.
Tatjana Bierhals, Satish Babu Maddukuri, Kerstin Kutsche, Katta Mohan Girisha. Am J Med Genet A 2013
21
14

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow.
Malgorzata Srebniak, Marjan Boter, Grétel Oudesluijs, Marieke Joosten, Lutgarde Govaerts, Diane Van Opstal, Robert-Jan H Galjaard. Eur J Hum Genet 2011
69
4

Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.
Shao-Qing Kuang, Dong-Chuan Guo, Siddharth K Prakash, Merry-Lynn N McDonald, Ralph J Johnson, Min Wang, Ellen S Regalado, Ludivine Russell, Jiu-Mei Cao, Callie Kwartler,[...]. PLoS Genet 2011
54
5

Disruption of the neurexin 1 gene is associated with schizophrenia.
Dan Rujescu, Andres Ingason, Sven Cichon, Olli P H Pietiläinen, Michael R Barnes, Timothea Toulopoulou, Marco Picchioni, Evangelos Vassos, Ulrich Ettinger, Elvira Bramon,[...]. Hum Mol Genet 2009
323
3

Use of array genomic hybridization technology in prenatal diagnosis in Canada.
Alessandra Duncan, Sylvie Langlois. J Obstet Gynaecol Can 2011
21
14


Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
Reinhard Ullmann, Gillian Turner, Maria Kirchhoff, Wei Chen, Bruce Tonge, Carla Rosenberg, Michael Field, Angela M Vianna-Morgante, Louise Christie, Ana C Krepischi-Santos,[...]. Hum Mutat 2007
197
3


Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
Christian P Schaaf, Philip M Boone, Srirangan Sampath, Charles Williams, Patricia I Bader, Jennifer M Mueller, Oleg A Shchelochkov, Chester W Brown, Heather P Crawford, James A Phalen,[...]. Eur J Hum Genet 2012
65
4

Whole-genome array as a first-line cytogenetic test in prenatal diagnosis.
M I Srebniak, D Van Opstal, M Joosten, K E M Diderich, F A T de Vries, S Riedijk, M F C M Knapen, A T J I Go, L C P Govaerts, R-J H Galjaard. Ultrasound Obstet Gynecol 2015
13
23

A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism.
H E Yu, K Hawash, J Picker, J Stoler, D Urion, B-L Wu, Y Shen. Clin Genet 2012
27
11

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
Michael S L Ching, Yiping Shen, Wen-Hann Tan, Shafali S Jeste, Eric M Morrow, Xiaoli Chen, Nahit M Mukaddes, Seung-Yun Yoo, Ellen Hanson, Rachel Hundley,[...]. Am J Med Genet B Neuropsychiatr Genet 2010
182
3

Copy number variations of chromosome 16p13.1 region associated with schizophrenia.
A Ingason, D Rujescu, S Cichon, E Sigurdsson, T Sigmundsson, O P H Pietiläinen, J E Buizer-Voskamp, E Strengman, C Francks, P Muglia,[...]. Mol Psychiatry 2011
172
3

The genetics of microdeletion and microduplication syndromes: an update.
Corey T Watson, Tomas Marques-Bonet, Andrew J Sharp, Heather C Mefford. Annu Rev Genomics Hum Genet 2014
76
3

A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.
Sébastien Jacquemont, Bradley P Coe, Micha Hersch, Michael H Duyzend, Niklas Krumm, Sven Bergmann, Jacques S Beckmann, Jill A Rosenfeld, Evan E Eichler. Am J Hum Genet 2014
244
3

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.
Tom Walsh, Jon M McClellan, Shane E McCarthy, Anjené M Addington, Sarah B Pierce, Greg M Cooper, Alex S Nord, Mary Kusenda, Dheeraj Malhotra, Abhishek Bhandari,[...]. Science 2008
3

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
41
7

Genomic copy number variation in disorders of cognitive development.
Eric M Morrow. J Am Acad Child Adolesc Psychiatry 2010
71
4

The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.
Andres Moreno-De-Luca, David W Evans, K B Boomer, Ellen Hanson, Raphael Bernier, Robin P Goin-Kochel, Scott M Myers, Thomas D Challman, Daniel Moreno-De-Luca, Mylissa M Slane,[...]. JAMA Psychiatry 2015
77
3

Copy number and SNP arrays in clinical diagnostics.
Christian P Schaaf, Joanna Wiszniewska, Arthur L Beaudet. Annu Rev Genomics Hum Genet 2011
93
3

Copy number variation plays an important role in clinical epilepsy.
Heather Olson, Yiping Shen, Jennifer Avallone, Beth R Sheidley, Rebecca Pinsky, Ann M Bergin, Gerard T Berry, Frank H Duffy, Yaman Eksioglu, David J Harris,[...]. Ann Neurol 2014
100
3


Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.
Ron Hochstenbach, Ellen van Binsbergen, John Engelen, Aggie Nieuwint, Abeltje Polstra, Pino Poddighe, Claudia Ruivenkamp, Birgit Sikkema-Raddatz, Dominique Smeets, Martin Poot. Eur J Med Genet 2009
112
3

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.
Juan Geng, Jonathan Picker, Zhaojing Zheng, Xiaoqing Zhang, Jian Wang, Fuki Hisama, David W Brown, Mary P Mullen, David Harris, Joan Stoler,[...]. BMC Genomics 2014
41
7

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Holly A F Stessman, Marjolein H Willemsen, Michaela Fenckova, Osnat Penn, Alexander Hoischen, Bo Xiong, Tianyun Wang, Kendra Hoekzema, Laura Vives, Ida Vogel,[...]. Am J Hum Genet 2016
65
4


Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
Juliane Hoyer, Arif B Ekici, Sabine Endele, Bernt Popp, Christiane Zweier, Antje Wiesener, Eva Wohlleber, Andreas Dufke, Eva Rossier, Corinna Petsch,[...]. Am J Hum Genet 2012
158
3

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.
Tychele N Turner, Fereydoun Hormozdiari, Michael H Duyzend, Sarah A McClymont, Paul W Hook, Ivan Iossifov, Archana Raja, Carl Baker, Kendra Hoekzema, Holly A Stessman,[...]. Am J Hum Genet 2016
143
3

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Anita Rauch, Dagmar Wieczorek, Elisabeth Graf, Thomas Wieland, Sabine Endele, Thomas Schwarzmayr, Beate Albrecht, Deborah Bartholdi, Jasmin Beygo, Nataliya Di Donato,[...]. Lancet 2012
632
3

Diagnostic exome sequencing in persons with severe intellectual disability.
Joep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, Tjitske Kleefstra, Helger G Yntema, Thessa Kroes, Anneke T Vulto-van Silfhout, David A Koolen, Petra de Vries, Christian Gilissen,[...]. N Engl J Med 2012
925
3

Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
B J O'Roak, H A Stessman, E A Boyle, K T Witherspoon, B Martin, C Lee, L Vives, C Baker, J B Hiatt, D A Nickerson,[...]. Nat Commun 2014
177
3

Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study.
Ye Cao, Zhihua Li, Jill A Rosenfeld, Amber N Pursley, Ankita Patel, Jin Huang, Huilin Wang, Min Chen, Xiaofang Sun, Tak Yeung Leung,[...]. Genet Med 2016
13
23

Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics.
Joris R Vermeesch, Paul D Brady, Damien Sanlaville, Klaas Kok, Rosalind J Hastings. Hum Mutat 2012
50
6


Prenatal diagnosis: array comparative genomic hybridization in fetuses with abnormal sonographic findings.
Else Marie Vestergaard, Rikke Christensen, Olav B Petersen, Ida Vogel. Acta Obstet Gynecol Scand 2013
22
13

Increased nuchal translucency with normal karyotype.
Athena P Souka, Constantin S Von Kaisenberg, Jonathan A Hyett, Jiri D Sonek, Kypros H Nicolaides. Am J Obstet Gynecol 2005
203
3

Structural variation in the human genome.
Lars Feuk, Andrew R Carson, Stephen W Scherer. Nat Rev Genet 2006
3


A framework for the interpretation of de novo mutation in human disease.
Kaitlin E Samocha, Elise B Robinson, Stephan J Sanders, Christine Stevens, Aniko Sabo, Lauren M McGrath, Jack A Kosmicki, Karola Rehnström, Swapan Mallick, Andrew Kirby,[...]. Nat Genet 2014
488
3

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
12


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
31
9

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
71
4

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
81
3

Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.
Karen S Ho, E Robert Wassman, Adrianne L Baxter, Charles H Hensel, Megan M Martin, Aparna Prasad, Hope Twede, Rena J Vanzo, Merlin G Butler. Int J Mol Sci 2016
25
12

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
36
8

Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years' clinical application for over 8,700 patients.
Joo Wook Ahn, Susan Bint, Anne Bergbaum, Kathy Mann, Richard P Hall, Caroline Mackie Ogilvie. Mol Cytogenet 2013
35
8

The 16p11.2 deletion mouse model of autism exhibits altered cortical progenitor proliferation and brain cytoarchitecture linked to the ERK MAPK pathway.
Joanna Pucilowska, Joseph Vithayathil, Emmanuel J Tavares, Caitlin Kelly, J Colleen Karlo, Gary E Landreth. J Neurosci 2015
78
3


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.