A citation-based method for searching scientific literature

Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A Rosenfeld, Zeynep Coban-Akdemir, Amber N Pursley, Sandesh C S Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G Petrie, Reuben Matalon, Lisa Emrick, Monica B Proud, Diane Treadwell-Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth R Roeder, Kimberly M Nugent, Patricia I Bader, Gary Bellus, Michael Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert Wildin, Anita E Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L Kang, Seema R Lalani, Carlos A Bacino, Arthur L Beaudet, Amy M Breman, Janice L Smith, Sau Wai Cheung, James R Lupski, Ankita Patel, Chad A Shaw, Paweł Stankiewicz. Genome Med 2017
Times Cited: 38







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



Times Cited
  Times     Co-cited
Similarity


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
28

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
28

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
28

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N Engl J Med 2013
26

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
23

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
21

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
18

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
18

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
18

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
Joanna Wiszniewska, Weimin Bi, Chad Shaw, Pawel Stankiewicz, Sung-Hae L Kang, Amber N Pursley, Seema Lalani, Patricia Hixson, Tomasz Gambin, Chun-hui Tsai,[...]. Eur J Hum Genet 2014
81
15

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Rolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, Michael P Kwint, Irene M Janssen, Nicole de Leeuw, Helger G Yntema, Marcel R Nelen, Dorien Lugtenberg, Erik-Jan Kamsteeg,[...]. Genet Med 2017
80
15

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.
Kyle Retterer, Julie Scuffins, Daniel Schmidt, Rachel Lewis, Daniel Pineda-Alvarez, Amanda Stafford, Lindsay Schmidt, Stephanie Warren, Federica Gibellini, Anastasia Kondakova,[...]. Genet Med 2015
76
15

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
Nara Sobreira, François Schiettecatte, David Valle, Ada Hamosh. Hum Mutat 2015
612
15

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
13

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Caroline F Wright, Tomas W Fitzgerald, Wendy D Jones, Stephen Clayton, Jeremy F McRae, Margriet van Kogelenberg, Daniel A King, Kirsty Ambridge, Daniel M Barrett, Tanya Bayzetinova,[...]. Lancet 2015
381
13

Phenotypic expansion illuminates multilocus pathogenic variation.
Ender Karaca, Jennifer E Posey, Zeynep Coban Akdemir, Davut Pehlivan, Tamar Harel, Shalini N Jhangiani, Yavuz Bayram, Xiaofei Song, Vahid Bahrambeigi, Ozge Ozalp Yuregir,[...]. Genet Med 2018
62
13

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
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
10

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
Piotr Dittwald, Tomasz Gambin, Przemyslaw Szafranski, Jian Li, Stephen Amato, Michael Y Divon, Lisa Ximena Rodríguez Rojas, Lindsay E Elton, Daryl A Scott, Christian P Schaaf,[...]. Genome Res 2013
78
10

Clinical application of whole-exome sequencing across clinical indications.
Kyle Retterer, Jane Juusola, Megan T Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G Monaghan,[...]. Genet Med 2016
458
10

A copy number variation map of the human genome.
Mehdi Zarrei, Jeffrey R MacDonald, Daniele Merico, Stephen W Scherer. Nat Rev Genet 2015
383
10

Development and validation of a CGH microarray for clinical cytogenetic diagnosis.
Sau W Cheung, Chad A Shaw, Wei Yu, Jiangzham Li, Zhishuo Ou, Ankita Patel, Svetlana A Yatsenko, Mitchell L Cooper, Patti Furman, Pawel Stankiewicz,[...]. Genet Med 2005
200
10

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Seema R Lalani, Pengfei Liu, Jill A Rosenfeld, Levi B Watkin, Theodore Chiang, Magalie S Leduc, Wenmiao Zhu, Yan Ding, Shujuan Pan, Francesco Vetrini,[...]. Am J Hum Genet 2016
44
10



Clan genomics and the complex architecture of human disease.
James R Lupski, John W Belmont, Eric Boerwinkle, Richard A Gibbs. Cell 2011
229
10

Mechanisms underlying structural variant formation in genomic disorders.
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
276
10

Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Hane Lee, Joshua L Deignan, Naghmeh Dorrani, Samuel P Strom, Sibel Kantarci, Fabiola Quintero-Rivera, Kingshuk Das, Traci Toy, Bret Harry, Michael Yourshaw,[...]. JAMA 2014
567
10

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
7




Mechanisms for recurrent and complex human genomic rearrangements.
Pengfei Liu, Claudia M B Carvalho, P J Hastings, James R Lupski. Curr Opin Genet Dev 2012
216
7

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Kristiina Tammimies, Christian R Marshall, Susan Walker, Gaganjot Kaur, Bhooma Thiruvahindrapuram, Anath C Lionel, Ryan K C Yuen, Mohammed Uddin, Wendy Roberts, Rosanna Weksberg,[...]. JAMA 2015
211
7

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
Robert C Green, Jonathan S Berg, Wayne W Grody, Sarah S Kalia, Bruce R Korf, Christa L Martin, Amy L McGuire, Robert L Nussbaum, Julianne M O'Daniel, Kelly E Ormond,[...]. Genet Med 2013
7


Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline.
Jeffrey G Reid, Andrew Carroll, Narayanan Veeraraghavan, Mahmoud Dahdouli, Andreas Sundquist, Adam English, Matthew Bainbridge, Simon White, William Salerno, Christian Buhay,[...]. BMC Bioinformatics 2014
130
7

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
7

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
972
7

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Bo Yuan, Davut Pehlivan, Ender Karaca, Nisha Patel, Wu-Lin Charng, Tomasz Gambin, Claudia Gonzaga-Jauregui, V Reid Sutton, Gozde Yesil, Sevcan Tug Bozdogan,[...]. J Clin Invest 2015
95
7

MEIS2 involvement in cardiac development, cleft palate, and intellectual disability.
Jacoba J Louw, Anniek Corveleyn, Yaojuan Jia, Greet Hens, Marc Gewillig, Koenraad Devriendt. Am J Med Genet A 2015
38
7

A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder.
Keiko Shimojima, Yumiko Ondo, Nobuhiko Okamoto, Toshiyuki Yamamoto. Hum Genome Var 2017
8
37

15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization.
Nicola Brunetti-Pierri, Trilochan Sahoo, Sarah Frioux, Craig Chinault, Roxanne Zascavage, Sau-Wai Cheung, Sarika Peters, Marwan Shinawi. Am J Med Genet A 2008
11
27

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.
Anne Rovelet-Lecrux, Didier Hannequin, Gregory Raux, Nathalie Le Meur, Annie Laquerrière, Anne Vital, Cécile Dumanchin, Sébastien Feuillette, Alexis Brice, Martine Vercelletto,[...]. Nat Genet 2006
819
7

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
Kelly D Farwell, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Elizabeth C Chao, Brigette Tippin Davis, Ruth M Baxter, Wenqi Zeng, Cameron Mroske, Melissa C Parra,[...]. Genet Med 2015
292
7

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.
L Potocki, K S Chen, T Koeuth, J Killian, S T Iannaccone, S K Shapira, C D Kashork, A S Spikes, L G Shaffer, J R Lupski. Am J Hum Genet 1999
49
7

The contribution of de novo coding mutations to autism spectrum disorder.
Ivan Iossifov, Brian J O'Roak, Stephan J Sanders, Michael Ronemus, Niklas Krumm, Dan Levy, Holly A Stessman, Kali T Witherspoon, Laura Vives, Karynne E Patterson,[...]. Nature 2014
7

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Tamar Harel, Wan Hee Yoon, Caterina Garone, Shen Gu, Zeynep Coban-Akdemir, Mohammad K Eldomery, Jennifer E Posey, Shalini N Jhangiani, Jill A Rosenfeld, Megan T Cho,[...]. Am J Hum Genet 2016
87
7

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Bo Yuan, Juanita Neira, Davut Pehlivan, Teresa Santiago-Sim, Xiaofei Song, Jill Rosenfeld, Jennifer E Posey, Vipulkumar Patel, Weihong Jin, Margaret P Adam,[...]. Genet Med 2019
29
10

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
7


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.