A citation-based method for searching scientific literature

Vahid Bahrambeigi, Xiaofei Song, Karen Sperle, Christine R Beck, Hadia Hijazi, Christopher M Grochowski, Shen Gu, Pavel Seeman, Karen J Woodward, Claudia M B Carvalho, Grace M Hobson, James R Lupski. Genome Med 2019
Times Cited: 5







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



Times Cited
  Times     Co-cited
Similarity


Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements.
Xiaofei Song, Christine R Beck, Renqian Du, Ian M Campbell, Zeynep Coban-Akdemir, Shen Gu, Amy M Breman, Pawel Stankiewicz, Grzegorz Ira, Chad A Shaw,[...]. Genome Res 2018
35
100

Mechanisms underlying structural variant formation in genomic disorders.
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
276
80

Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Christine R Beck, Claudia M B Carvalho, Zeynep C Akdemir, Fritz J Sedlazeck, Xiaofei Song, Qingchang Meng, Jianhong Hu, Harsha Doddapaneni, Zechen Chong, Edward S Chen,[...]. Cell 2019
30
80

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
Shen Gu, Bo Yuan, Ian M Campbell, Christine R Beck, Claudia M B Carvalho, Sandesh C S Nagamani, Ayelet Erez, Ankita Patel, Carlos A Bacino, Chad A Shaw,[...]. Hum Mol Genet 2015
55
80

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
Claudia M B Carvalho, Melissa B Ramocki, Davut Pehlivan, Luis M Franco, Claudia Gonzaga-Jauregui, Ping Fang, Alanna McCall, Eniko Karman Pivnick, Stacy Hines-Dowell, Laurie H Seaver,[...]. Nat Genet 2011
128
80

An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Pengfei Liu, Bo Yuan, Claudia M B Carvalho, Arthur Wuster, Klaudia Walter, Ling Zhang, Tomasz Gambin, Zechen Chong, Ian M Campbell, Zeynep Coban Akdemir,[...]. Cell 2017
43
60

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
Christine R Beck, Claudia M B Carvalho, Linda Banser, Tomasz Gambin, Danielle Stubbolo, Bo Yuan, Karen Sperle, Suzanne M McCahan, Marco Henneke, Pavel Seeman,[...]. PLoS Genet 2015
41
60

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
60

Replicative mechanisms for CNV formation are error prone.
Claudia M B Carvalho, Davut Pehlivan, Melissa B Ramocki, Ping Fang, Benjamin Alleva, Luis M Franco, John W Belmont, P J Hastings, James R Lupski. Nat Genet 2013
90
60


CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Bo Yuan, Lei Wang, Pengfei Liu, Chad Shaw, Hongzheng Dai, Lance Cooper, Wenmiao Zhu, Stephanie A Anderson, Linyan Meng, Xia Wang,[...]. Genet Med 2020
14
60

Reanalysis of Clinical Exome Sequencing Data.
Pengfei Liu, Linyan Meng, Elizabeth A Normand, Fan Xia, Xiaofei Song, Andrew Ghazi, Jill Rosenfeld, Pilar L Magoulas, Alicia Braxton, Patricia Ward,[...]. N Engl J Med 2019
72
60

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Avinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Sami Al Masri, Jennifer Scull, Jennifer E Posey, Allen H Jiang, Weimin He,[...]. Genome Med 2019
15
60

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Jennifer E Posey, Tamar Harel, Pengfei Liu, Jill A Rosenfeld, Regis A James, Zeynep H Coban Akdemir, Magdalena Walkiewicz, Weimin Bi, Rui Xiao, Yan Ding,[...]. N Engl J Med 2017
342
60

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Davut Pehlivan, Yavuz Bayram, Nilay Gunes, Zeynep Coban Akdemir, Anju Shukla, Tatjana Bierhals, Burcu Tabakci, Yavuz Sahin, Alper Gezdirici, Jawid M Fatih,[...]. Am J Hum Genet 2019
40
60

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.
Nichole Link, Hyunglok Chung, Angad Jolly, Marjorie Withers, Burak Tepe, Benjamin R Arenkiel, Priya S Shah, Nevan J Krogan, Hatip Aydin, Bilgen B Geckinli,[...]. Dev Cell 2019
21
60

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
40


Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
Claudia M B Carvalho, Feng Zhang, Pengfei Liu, Ankita Patel, Trilochan Sahoo, Carlos A Bacino, Chad Shaw, Sandra Peacock, Amber Pursley, Y Jane Tavyev,[...]. Hum Mol Genet 2009
142
40


Cytogenetically visible inversions are formed by multiple molecular mechanisms.
Maria Pettersson, Christopher M Grochowski, Josephine Wincent, Jesper Eisfeldt, Amy M Breman, Sau W Cheung, Ana C V Krepischi, Carla Rosenberg, James R Lupski, Jesper Ottosson,[...]. Hum Mutat 2020
4
50

Absence of heterozygosity due to template switching during replicative rearrangements.
Claudia M B Carvalho, Rolph Pfundt, Daniel A King, Sarah J Lindsay, Luciana W Zuccherato, Merryn V E Macville, Pengfei Liu, Diana Johnson, Pawel Stankiewicz, Chester W Brown,[...]. Am J Hum Genet 2015
37
40

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
Claudia M B Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J Turner, Rupa S Kanchi,[...]. Genome Med 2019
7
40



Genomic disorders ten years on.
James R Lupski. Genome Med 2009
107
40

Molecular findings among patients referred for clinical whole-exome sequencing.
Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay,[...]. JAMA 2014
819
40

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
40

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Justyna A Karolak, Marie Vincent, Gail Deutsch, Tomasz Gambin, Benjamin Cogné, Olivier Pichon, Francesco Vetrini, Heather C Mefford, Jennifer N Dines, Katie Golden-Grant,[...]. Am J Hum Genet 2019
39
40

Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange.
Danielle R Azzariti, Ada Hamosh. Annu Rev Genomics Hum Genet 2020
7
40

Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
B B Roa, C A Garcia, U Suter, D A Kulpa, C A Wise, J Mueller, A A Welcher, G J Snipes, E M Shooter, P I Patel,[...]. N Engl J Med 1993
327
40

The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David A Fasel, Ekaterina Batourina, Matthew G Sampson,[...]. Nat Genet 2019
56
40


Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
Ender Karaca, Stefan Weitzer, Davut Pehlivan, Hiroshi Shiraishi, Tasos Gogakos, Toshikatsu Hanada, Shalini N Jhangiani, Wojciech Wiszniewski, Marjorie Withers, Ian M Campbell,[...]. Cell 2014
123
40

DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
J R Lupski, R M de Oca-Luna, S Slaugenhaupt, L Pentao, V Guzzetta, B J Trask, O Saucedo-Cardenas, D F Barker, J M Killian, C A Garcia,[...]. Cell 1991
40

Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.
Xiaojun Ren, Nan Yang, Nan Wu, Ximing Xu, Weisheng Chen, Ling Zhang, Yingping Li, Ren-Qian Du, Shuangshuang Dong, Sen Zhao,[...]. J Med Genet 2020
10
40


Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Pengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, Shweta U Dhar, Katarzyna E Kołodziejska, Avinash V Dharmadhikari, M Lance Cooper, Joanna Wiszniewska, Feng Zhang, Marjorie A Withers,[...]. Cell 2011
286
40




Massive genomic rearrangement acquired in a single catastrophic event during cancer development.
Philip J Stephens, Chris D Greenman, Beiyuan Fu, Fengtang Yang, Graham R Bignell, Laura J Mudie, Erin D Pleasance, King Wai Lau, David Beare, Lucy A Stebbings,[...]. Cell 2011
40

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Claudia Gonzaga-Jauregui, Gozde Yesil, Harikiran Nistala, Alper Gezdirici, Yavuz Bayram, Kalyan C Nannuru, Davut Pehlivan, Bo Yuan, Johanna Jimenez, Yavuz Sahin,[...]. Eur J Hum Genet 2020
7
40

Mendelian Gene Discovery: Fast and Furious with No End in Sight.
Michael J Bamshad, Deborah A Nickerson, Jessica X Chong. Am J Hum Genet 2019
54
40

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
114
40

Genome sequencing and implications for rare disorders.
Jennifer E Posey. Orphanet J Rare Dis 2019
33
40

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.
Tomasz Gambin, Qian Liu, Justyna A Karolak, Christopher M Grochowski, Nina G Xie, Lucia R Wu, Yan Helen Yan, Ye Cao, Zeynep H Coban Akdemir, Theresa A Wilson,[...]. Genet Med 2020
6
40

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
Tomasz Gambin, Zeynep C Akdemir, Bo Yuan, Shen Gu, Theodore Chiang, Claudia M B Carvalho, Chad Shaw, Shalini Jhangiani, Philip M Boone, Mohammad K Eldomery,[...]. Nucleic Acids Res 2017
68
40

Copy number variations and cognitive phenotypes in unselected populations.
Katrin Männik, Reedik Mägi, Aurélien Macé, Ben Cole, Anna L Guyatt, Hashem A Shihab, Anne M Maillard, Helene Alavere, Anneli Kolk, Anu Reigo,[...]. JAMA 2015
87
40



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.