A citation-based method for searching scientific literature

Elaine Suk-Ying Goh, Brenda Banwell, Dimitri James Stavropoulos, Mary Shago, Grace Yoon. Am J Med Genet A 2014
Times Cited: 4







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



Times Cited
  Times     Co-cited
Similarity


Mutations in RAI1 associated with Smith-Magenis syndrome.
Rebecca E Slager, Tiffany Lynn Newton, Christopher N Vlangos, Brenda Finucane, Sarah H Elsea. Nat Genet 2003
204
75

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
F Greenberg, R A Lewis, L Potocki, D Glaze, J Parke, J Killian, M A Murphy, D Williamson, F Brown, R Dutton,[...]. Am J Med Genet 1996
205
75

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.
E A Edelman, S Girirajan, B Finucane, P I Patel, J R Lupski, A C M Smith, S H Elsea. Clin Genet 2007
90
75

Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.
Guénola Ricard, Jessica Molina, Jacqueline Chrast, Wenli Gu, Nele Gheldof, Sylvain Pradervand, Frédéric Schütz, Juan I Young, James R Lupski, Alexandre Reymond,[...]. PLoS Biol 2010
70
50

A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men.
Melanie Lacaria, Pradip Saha, Lorraine Potocki, Weimin Bi, Jiong Yan, Santhosh Girirajan, Brooke Burns, Sarah Elsea, Katherina Walz, Lawrence Chan,[...]. PLoS Genet 2012
31
50

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.
K S Chen, P Manian, T Koeuth, L Potocki, Q Zhao, A C Chinault, C C Lee, J R Lupski. Nat Genet 1997
288
50


Mechanisms underlying structural variant formation in genomic disorders.
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
276
50


Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.
Santhosh Girirajan, Christopher N Vlangos, Barbara B Szomju, Emily Edelman, Christopher D Trevors, Lucie Dupuis, Marjan Nezarati, David J Bunyan, Sarah H Elsea. Genet Med 2006
86
50

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.
Weimin Bi, G Mustafa Saifi, Christine J Shaw, Katherina Walz, Patricia Fonseca, Meredith Wilson, Lorraine Potocki, James R Lupski. Hum Genet 2004
77
50

Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.
Pengfei Liu, Melanie Lacaria, Feng Zhang, Marjorie Withers, P J Hastings, James R Lupski. Am J Hum Genet 2011
74
50

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
F Greenberg, V Guzzetta, R Montes de Oca-Luna, R E Magenis, A C Smith, S F Richter, I Kondo, W B Dobyns, P I Patel, J R Lupski. Am J Hum Genet 1991
252
50

Interstitial deletion of (17)(p11.2p11.2) in nine patients.
A C Smith, L McGavran, J Robinson, G Waldstein, J Macfarlane, J Zonona, J Reiss, M Lahr, L Allen, E Magenis. Am J Med Genet 1986
278
50

Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation.
S L Page, J C Shin, J Y Han, K H Choo, L G Shaffer. Hum Mol Genet 1996
73
25

Genomic disorders ten years on.
James R Lupski. Genome Med 2009
107
25

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Bo Yuan, Tamar Harel, Shen Gu, Pengfei Liu, Lydie Burglen, Sandra Chantot-Bastaraud, Violet Gelowani, Christine R Beck, Claudia M B Carvalho, Sau Wai Cheung,[...]. Am J Hum Genet 2015
21
25

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
151
25

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
Weimin Bi, Jiong Yan, Pawe Stankiewicz, Sung-Sup Park, Katherina Walz, Cornelius F Boerkoel, Lorraine Potocki, Lisa G Shaffer, Koen Devriendt, Magorzata J M Nowaczyk,[...]. Genome Res 2002
82
25

Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.
Bo Yuan, Pengfei Liu, Aditya Gupta, Christine R Beck, Anusha Tejomurtula, Ian M Campbell, Tomasz Gambin, Alexandra D Simmons, Marjorie A Withers, R Alan Harris,[...]. PLoS Genet 2015
16
25

Genome architecture catalyzes nonrecurrent chromosomal rearrangements.
Paweł Stankiewicz, Christine J Shaw, Jason D Dapper, Keiko Wakui, Lisa G Shaffer, Marjorie Withers, Leah Elizondo, Sung-Sup Park, James R Lupski. Am J Hum Genet 2003
145
25

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
Ian M Campbell, Svetlana A Yatsenko, Patricia Hixson, Tyler Reimschisel, Matthew Thomas, William Wilson, Usha Dayal, James W Wheless, Amy Crunk, Cynthia Curry,[...]. Genet Med 2012
37
25

DNA deletion associated with hereditary neuropathy with liability to pressure palsies.
P F Chance, M K Alderson, K A Leppig, M W Lensch, N Matsunami, B Smith, P D Swanson, S J Odelberg, C M Disteche, T D Bird. Cell 1993
678
25



Conduction block in PMP22 deficiency.
Yunhong Bai, Xuebao Zhang, Istvan Katona, Mario Andre Saporta, Michael E Shy, Heather A O'Malley, Lori L Isom, Ueli Suter, Jun Li. J Neurosci 2010
42
25

Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update.
Nicolas Chrestian, Hugh McMillan, Chantal Poulin, Craig Campbell, Jiri Vajsar. Neuromuscul Disord 2015
18
25

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
Ian M Campbell, Bo Yuan, Caroline Robberecht, Rolph Pfundt, Przemyslaw Szafranski, Meriel E McEntagart, Sandesh C S Nagamani, Ayelet Erez, Magdalena Bartnik, Barbara Wiśniowiecka-Kowalnik,[...]. Am J Hum Genet 2014
145
25

Assessing structural variation in a personal genome-towards a human reference diploid genome.
Adam C English, William J Salerno, Oliver A Hampton, Claudia Gonzaga-Jauregui, Shruthi Ambreth, Deborah I Ritter, Christine R Beck, Caleb F Davis, Mahmoud Dahdouli, Singer Ma,[...]. BMC Genomics 2015
88
25

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.
R C Juyal, L E Figuera, X Hauge, S H Elsea, J R Lupski, F Greenberg, A Baldini, P I Patel. Am J Hum Genet 1996
105
25

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Przemyslaw Szafranski, Tomasz Gambin, Avinash V Dharmadhikari, Kadir Caner Akdemir, Shalini N Jhangiani, Jennifer Schuette, Nihal Godiwala, Svetlana A Yatsenko, Jessica Sebastian, Suneeta Madan-Khetarpal,[...]. Hum Genet 2016
54
25

The phenotype of recurrent 10q22q23 deletions and duplications.
Bregje W M van Bon, Jorune Balciuniene, Gary Fruhman, Sandesh Chakravarthy Sreenath Nagamani, Diane L Broome, Elizabeth Cameron, Danielle Martinet, Eliane Roulet, Sebastien Jacquemont, Jacques S Beckmann,[...]. Eur J Hum Genet 2011
45
25

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.
Feng Zhang, Mehrdad Khajavi, Anne M Connolly, Charles F Towne, Sat Dev Batish, James R Lupski. Nat Genet 2009
300
25

Hereditary neuropathy with liability to pressure palsies in childhood.
A A Gabreëls-Festen, F J Gabreëls, E M Joosten, H M Vingerhoets, W O Renier. Neuropediatrics 1992
40
25

Real-time DNA sequencing from single polymerase molecules.
John Eid, Adrian Fehr, Jeremy Gray, Khai Luong, John Lyle, Geoff Otto, Paul Peluso, David Rank, Primo Baybayan, Brad Bettman,[...]. Science 2009
25


Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients.
B J Trask, H Mefford, G van den Engh, H F Massa, R C Juyal, L Potocki, B Finucane, D N Abuelo, D R Witt, E Magenis,[...]. Hum Genet 1996
39
25

DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage.
Ryan Mayle, Ian M Campbell, Christine R Beck, Yang Yu, Marenda Wilson, Chad A Shaw, Lotte Bjergbaek, James R Lupski, Grzegorz Ira. Science 2015
125
25

PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations.
Min Wang, Christine R Beck, Adam C English, Qingchang Meng, Christian Buhay, Yi Han, Harsha V Doddapaneni, Fuli Yu, Eric Boerwinkle, James R Lupski,[...]. BMC Genomics 2015
40
25

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
Darío G Lupiáñez, Katerina Kraft, Verena Heinrich, Peter Krawitz, Francesco Brancati, Eva Klopocki, Denise Horn, Hülya Kayserili, John M Opitz, Renata Laxova,[...]. Cell 2015
942
25

Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.
Jun Li, Khaled Ghandour, Danijela Radovanovic, Rosemary R Shy, Karen M Krajewski, Michael E Shy, Garth A Nicholson. Arch Neurol 2007
27
25

Hereditary compression syndrome of peripheral nerves.
A Staal, C J de Weerdt, L N Went. Neurology 1965
48
25


Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome.
P T Brook-Carter, B Peral, C J Ward, P Thompson, J Hughes, M M Maheshwar, M Nellist, V Gamble, P C Harris, J R Sampson. Nat Genet 1994
343
25


Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.
R T Zori, J R Lupski, Z Heju, F Greenberg, J M Killian, B A Gray, D J Driscoll, P I Patel, J L Zackowski. Am J Med Genet 1993
67
25

Structural variation in the human genome and its role in disease.
Paweł Stankiewicz, James R Lupski. Annu Rev Med 2010
676
25


Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
N Liburd, M Ghosh, S Riazuddin, S Naz, S Khan, Z Ahmed, S Riazuddin, Y Liang, P S Menon, T Smith,[...]. Hum Genet 2001
89
25

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.
A Ballabio, B Bardoni, R Carrozzo, G Andria, D Bick, L Campbell, B Hamel, M A Ferguson-Smith, G Gimelli, M Fraccaro. Proc Natl Acad Sci U S A 1989
228
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.