A citation-based method for searching scientific literature

Sarah T South, Charles Lee, Allen N Lamb, Anne W Higgins, Hutton M Kearney. Genet Med 2013
Times Cited: 159







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



Times Cited
  Times     Co-cited
Similarity


Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
Cornelis A Albers, Dirk S Paul, Harald Schulze, Kathleen Freson, Jonathan C Stephens, Peter A Smethurst, Jennifer D Jolley, Ana Cvejic, Myrto Kostadima, Paul Bertone,[...]. Nat Genet 2012
247
3

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.
Christelle Golzio, Jason Willer, Michael E Talkowski, Edwin C Oh, Yu Taniguchi, Sébastien Jacquemont, Alexandre Reymond, Mei Sun, Akira Sawa, James F Gusella,[...]. Nature 2012
235
3

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
415
3

Large-scale copy number polymorphism in the human genome.
Jonathan Sebat, B Lakshmi, Jennifer Troge, Joan Alexander, Janet Young, Pär Lundin, Susanne Månér, Hillary Massa, Megan Walker, Maoyen Chi,[...]. Science 2004
3

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
N Wu, X Ming, J Xiao, Z Wu, X Chen, M Shinawi, Y Shen, G Yu, J Liu, H Xie,[...]. N Engl J Med 2015
145
3

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.
Douglas M Ruderfer, Tymor Hamamsy, Monkol Lek, Konrad J Karczewski, David Kavanagh, Kaitlin E Samocha, Mark J Daly, Daniel G MacArthur, Menachem Fromer, Shaun M Purcell. Nat Genet 2016
107
3

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.
Laura K Conlin, Brian D Thiel, Carsten G Bonnemann, Livija Medne, Linda M Ernst, Elaine H Zackai, Matthew A Deardorff, Ian D Krantz, Hakon Hakonarson, Nancy B Spinner. Hum Mol Genet 2010
265
3

Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence.
Christa Lese Martin, Dorothy Warburton. Annu Rev Genomics Hum Genet 2015
23
13

Chronic kidney disease: global dimension and perspectives.
Vivekanand Jha, Guillermo Garcia-Garcia, Kunitoshi Iseki, Zuo Li, Saraladevi Naicker, Brett Plattner, Rajiv Saran, Angela Yee-Moon Wang, Chih-Wei Yang. Lancet 2013
3


Guidelines for investigating causality of sequence variants in human disease.
D G MacArthur, T A Manolio, D P Dimmock, H L Rehm, J Shendure, G R Abecasis, D R Adams, R B Altman, S E Antonarakis, E A Ashley,[...]. Nature 2014
765
3

Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.
Asaf Vivante, Daw-Yang Hwang, Stefan Kohl, Jing Chen, Shirlee Shril, Julian Schulz, Amelie van der Ven, Ghaleb Daouk, Neveen A Soliman, Aravind Selvin Kumar,[...]. J Am Soc Nephrol 2017
43
6

Genomics is failing on diversity.
Alice B Popejoy, Stephanie M Fullerton. Nature 2016
511
3

Genetic Misdiagnoses and the Potential for Health Disparities.
Arjun K Manrai, Birgit H Funke, Heidi L Rehm, Morten S Olesen, Bradley A Maron, Peter Szolovits, David M Margulies, Joseph Loscalzo, Isaac S Kohane. N Engl J Med 2016
297
3

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Carolin E Sadowski, Svjetlana Lovric, Shazia Ashraf, Werner L Pabst, Heon Yung Gee, Stefan Kohl, Susanne Engelmann, Virginia Vega-Warner, Humphrey Fang, Jan Halbritter,[...]. J Am Soc Nephrol 2015
284
3

Comparison of cytogenetics and molecular karyotyping for chromosome testing of miscarriage specimens.
Meera Sridhar Shah, Cengiz Cinnioglu, Melissa Maisenbacher, Ioanna Comstock, Jonathan Kort, Ruth Bunker Lathi. Fertil Steril 2017
22
13

ACMG clinical laboratory standards for next-generation sequencing.
Heidi L Rehm, Sherri J Bale, Pinar Bayrak-Toydemir, Jonathan S Berg, Kerry K Brown, Joshua L Deignan, Michael J Friez, Birgit H Funke, Madhuri R Hegde, Elaine Lyon. Genet Med 2013
525
3

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Stephan J Sanders, A Gulhan Ercan-Sencicek, Vanessa Hus, Rui Luo, Michael T Murtha, Daniel Moreno-De-Luca, Su H Chu, Michael P Moreau, Abha R Gupta, Susanne A Thomson,[...]. Neuron 2011
800
3

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.
Heather J Cordell, Jamie Bentham, Ana Topf, Diana Zelenika, Simon Heath, Chrysovalanto Mamasoula, Catherine Cosgrove, Gillian Blue, Javier Granados-Riveron, Kerry Setchfield,[...]. Nat Genet 2013
74
4

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
Daniel Moreno-De-Luca, Jennifer G Mulle, Erin B Kaminsky, Stephan J Sanders, Scott M Myers, Margaret P Adam, Amy T Pakula, Nancy J Eisenhauer, Kim Uhas, LuAnn Weik,[...]. Am J Hum Genet 2010
198
3

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
3

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans.
Asaf Vivante, Stefan Kohl, Daw-Yang Hwang, Gabriel C Dworschak, Friedhelm Hildebrandt. Pediatr Nephrol 2014
96
3

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Heather C Mefford, Andrew J Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv K Maloney, John A Crolla, Diana Baralle,[...]. N Engl J Med 2008
513
3

Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT.
Iekuni Ichikawa, Fumiyo Kuwayama, John C Pope, F Douglas Stephens, Yoichi Miyazaki. Kidney Int 2002
120
3


Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Nicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, John Belmont, Carlos A Bacino, Trilochan Sahoo, Seema R Lalani, Brett Graham, Brendan Lee, Marwan Shinawi,[...]. Nat Genet 2008
387
3

Strong association of de novo copy number mutations with autism.
Jonathan Sebat, B Lakshmi, Dheeraj Malhotra, Jennifer Troge, Christa Lese-Martin, Tom Walsh, Boris Yamrom, Seungtai Yoon, Alex Krasnitz, Jude Kendall,[...]. Science 2007
3

Mutations in DSTYK and dominant urinary tract malformations.
Simone Sanna-Cherchi, Rosemary V Sampogna, Natalia Papeta, Katelyn E Burgess, Shannon N Nees, Brittany J Perry, Murim Choi, Monica Bodria, Yan Liu, Patricia L Weng,[...]. N Engl J Med 2013
71
4

Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.
Yanqin Yu, Xianbo Zuo, Miao He, Jinping Gao, Yuchuan Fu, Chuanqi Qin, Liuyan Meng, Wenjun Wang, Yaling Song, Yong Cheng,[...]. Nat Commun 2017
108
3

Renal outcome in patients with congenital anomalies of the kidney and urinary tract.
Simone Sanna-Cherchi, Pietro Ravani, Valentina Corbani, Stefano Parodi, Riccardo Haupt, Giorgio Piaggio, Maria L Degli Innocenti, Danio Somenzi, Antonella Trivelli, Gianluca Caridi,[...]. Kidney Int 2009
182
3

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.
Aziz Belkadi, Alexandre Bolze, Yuval Itan, Aurélie Cobat, Quentin B Vincent, Alexander Antipenko, Lei Shang, Bertrand Boisson, Jean-Laurent Casanova, Laurent Abel. Proc Natl Acad Sci U S A 2015
241
3

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
52
5

Epidemiology of chronic kidney disease in children.
Jérôme Harambat, Karlijn J van Stralen, Jon Jin Kim, E Jane Tizard. Pediatr Nephrol 2012
362
3


Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
Konstantinos N Lazaridis, Kimberly A Schahl, Margot A Cousin, Dusica Babovic-Vuksanovic, Douglas L Riegert-Johnson, Ralitza H Gavrilova, Tammy M McAllister, Noralane M Lindor, Roshini S Abraham, Michael J Ackerman,[...]. Mayo Clin Proc 2016
59
5

Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.
Sneh Lata, Maddalena Marasa, Yifu Li, David A Fasel, Emily Groopman, Vaidehi Jobanputra, Hila Rasouly, Adele Mitrotti, Rik Westland, Miguel Verbitsky,[...]. Ann Intern Med 2018
70
4

Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization.
Stefanie Weber, Christina Landwehr, Miriam Renkert, Alexander Hoischen, Elke Wühl, Jonas Denecke, Bernhard Radlwimmer, Dieter Haffner, Franz Schaefer, Ruthild G Weber. Nephrol Dial Transplant 2011
43
6

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.
Stefan H Lelieveld, Malte Spielmann, Stefan Mundlos, Joris A Veltman, Christian Gilissen. Hum Mutat 2015
86
3

Genomic diagnosis for children with intellectual disability and/or developmental delay.
Kevin M Bowling, Michelle L Thompson, Michelle D Amaral, Candice R Finnila, Susan M Hiatt, Krysta L Engel, J Nicholas Cochran, Kyle B Brothers, Kelly M East, David E Gray,[...]. Genome Med 2017
85
3

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.
Aaron M Wenger, Harendra Guturu, Jonathan A Bernstein, Gill Bejerano. Genet Med 2017
130
3

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
Carol Jean Saunders, Neil Andrew Miller, Sarah Elizabeth Soden, Darrell Lee Dinwiddie, Aaron Noll, Noor Abu Alnadi, Nevene Andraws, Melanie LeAnn Patterson, Lisa Ann Krivohlavek, Joel Fellis,[...]. Sci Transl Med 2012
362
3

Lessons learned from additional research analyses of unsolved clinical exome cases.
Mohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, Jill A Rosenfeld, Tomasz Gambin, Asbjørg Stray-Pedersen, Sébastien Küry, Sandra Mercier, Davor Lessel, Jonas Denecke,[...]. Genome Med 2017
101
3


Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype.
Eran Bornstein, Sharon Berger, Sau W Cheung, Kristen T Maliszewski, Ankita Patel, Amber N Pursley, Erez Lenchner, Carlos Bacino, Arthur L Beaudet, Michael Y Divon. Am J Perinatol 2017
13
23


UPD detection using homozygosity profiling with a SNP genotyping microarray.
Peter Papenhausen, Stuart Schwartz, Hiba Risheg, Elisabeth Keitges, Inder Gadi, Rachel D Burnside, Vikram Jaswaney, John Pappas, Romela Pasion, Kenneth Friedman,[...]. Am J Med Genet A 2011
86
3


Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
Joseph T Glessner, Alexander G Bick, Kaoru Ito, Jason Homsy, Laura Rodriguez-Murillo, Menachem Fromer, Erica Mazaika, Badri Vardarajan, Michael Italia, Jeremy Leipzig,[...]. Circ Res 2014
126
3

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
60
5



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.