A citation-based method for searching scientific literature

Danielle R Azzariti, Ada Hamosh. Annu Rev Genomics Hum Genet 2020
Times Cited: 19







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



Times Cited
  Times     Co-cited
Similarity


The Matchmaker Exchange: a platform for rare disease gene discovery.
Anthony A Philippakis, Danielle R Azzariti, Sergi Beltran, Anthony J Brookes, Catherine A Brownstein, Michael Brudno, Han G Brunner, Orion J Buske, Knox Carey, Cassie Doll,[...]. Hum Mutat 2015
261
52

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
860
42

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
72
36

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
36

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
704
36

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
31

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Jessica X Chong, Kati J Buckingham, Shalini N Jhangiani, Corinne Boehm, Nara Sobreira, Joshua D Smith, Tanya M Harrell, Margaret J McMillin, Wojciech Wiszniewski, Tomasz Gambin,[...]. Am J Hum Genet 2015
371
31

Insights into genetics, human biology and disease gleaned from family based genomic studies.
Jennifer E Posey, Anne H O'Donnell-Luria, Jessica X Chong, Tamar Harel, Shalini N Jhangiani, Zeynep H Coban Akdemir, Steven Buyske, Davut Pehlivan, Claudia M B Carvalho, Samantha Baxter,[...]. Genet Med 2019
85
31

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
Kimberly Splinter, David R Adams, Carlos A Bacino, Hugo J Bellen, Jonathan A Bernstein, Alys M Cheatle-Jarvela, Christine M Eng, Cecilia Esteves, William A Gahl, Rizwan Hamid,[...]. N Engl J Med 2018
138
26

The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
26

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
26

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
599
21

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
100
21

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
378
21

Japan's initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey.
Takeya Adachi, Kazuo Kawamura, Yoshihiko Furusawa, Yuji Nishizaki, Noriaki Imanishi, Senkei Umehara, Kazuo Izumi, Makoto Suematsu. Eur J Hum Genet 2017
48
21

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
520
21

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.
Jessica X Chong, Joon-Ho Yu, Peter Lorentzen, Karen M Park, Seema M Jamal, Holly K Tabor, Anita Rauch, Margarita Sifuentes Saenz, Eugen Boltshauser, Karynne E Patterson,[...]. Genet Med 2016
61
21

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.
Michelle M Clark, Zornitza Stark, Lauge Farnaes, Tiong Y Tan, Susan M White, David Dimmock, Stephen F Kingsmore. NPJ Genom Med 2018
217
21

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Natasha T Strande, Erin Rooney Riggs, Adam H Buchanan, Ozge Ceyhan-Birsoy, Marina DiStefano, Selina S Dwight, Jenny Goldstein, Rajarshi Ghosh, Bryce A Seifert, Tam P Sneddon,[...]. Am J Hum Genet 2017
219
21

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.
Stéphanie Nguengang Wakap, Deborah M Lambert, Annie Olry, Charlotte Rodwell, Charlotte Gueydan, Valérie Lanneau, Daniel Murphy, Yann Le Cam, Ana Rath. Eur J Hum Genet 2020
240
21

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
49
15

PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.
Orion J Buske, Marta Girdea, Sergiu Dumitriu, Bailey Gallinger, Taila Hartley, Heather Trang, Andriy Misyura, Tal Friedman, Chandree Beaulieu, William P Bone,[...]. Hum Mutat 2015
84
15

Matchmaker Exchange.
Nara L M Sobreira, Harindra Arachchi, Orion J Buske, Jessica X Chong, Ben Hutton, Julia Foreman, François Schiettecatte, Tudor Groza, Julius O B Jacobsen, Melissa A Haendel,[...]. Curr Protoc Hum Genet 2017
32
15



A structural variation reference for medical and population genetics.
Ryan L Collins, Harrison Brand, Konrad J Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C Francioli, Amit V Khera, Chelsea Lowther, Laura D Gauthier, Harold Wang,[...]. Nature 2020
200
15

The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.
Michael J Bamshad, Jay A Shendure, David Valle, Ada Hamosh, James R Lupski, Richard A Gibbs, Eric Boerwinkle, Richard P Lifton, Mark Gerstein, Murat Gunel,[...]. Am J Med Genet A 2012
84
15

The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles.
Orion J Buske, François Schiettecatte, Benjamin Hutton, Sergiu Dumitriu, Andriy Misyura, Lijia Huang, Taila Hartley, Marta Girdea, Nara Sobreira, Chris Mungall,[...]. Hum Mutat 2015
36
15

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.
Chandree L Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, Mark E Samuels, Bridget A Fernandez, Francois P Bernier, Michael Brudno, Bartha Knoppers, Janet Marcadier, David Dyment,[...]. Am J Hum Genet 2014
162
15

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Anath C Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S Reuter, S Mohsen Hosseini, Bhooma Thiruvahindrapuram, Daniele Merico, Rebekah Jobling, Thomas Nalpathamkalam,[...]. Genet Med 2018
228
15

Genomic disorders ten years on.
James R Lupski. Genome Med 2009
108
10

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
17
11

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
162
10

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
46
10

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
46
10

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
329
10

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
67
10

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
10


Mechanisms underlying structural variant formation in genomic disorders.
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
301
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
10

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
11
18


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
294
10


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
33
10


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
8
25

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.
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,[...]. Genome Med 2019
8
25

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
20
10


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.