A citation-based method for searching scientific literature

Laura S Kremer, Daniel M Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile, Eliška Koňaříková, Birgit Repp, Gabi Kastenmüller, Jerzy Adamski, Peter Lichtner, Christoph Leonhardt, Benoit Funalot, Alice Donati, Valeria Tiranti, Anne Lombes, Claude Jardel, Dieter Gläser, Robert W Taylor, Daniele Ghezzi, Johannes A Mayr, Agnes Rötig, Peter Freisinger, Felix Distelmaier, Tim M Strom, Thomas Meitinger, Julien Gagneur, Holger Prokisch. Nat Commun 2017
Times Cited: 200







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



Times Cited
  Times     Co-cited
Similarity


Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A Reghan Foley, Veronique Bolduc, Leigh B Waddell, Sarah A Sandaradura, Gina L O'Grady,[...]. Sci Transl Med 2017
271
54

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
45

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Laure Frésard, Craig Smail, Nicole M Ferraro, Nicole A Teran, Xin Li, Kevin S Smith, Devon Bonner, Kristin D Kernohan, Shruti Marwaha, Zachary Zappala,[...]. Nat Med 2019
74
40

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Hernan D Gonorazky, Sergey Naumenko, Arun K Ramani, Viswateja Nelakuditi, Pouria Mashouri, Peiqui Wang, Dennis Kao, Krish Ohri, Senthuri Viththiyapaskaran, Mark A Tarnopolsky,[...]. Am J Hum Genet 2019
71
33

Predicting Splicing from Primary Sequence with Deep Learning.
Kishore Jaganathan, Sofia Kyriazopoulou Panagiotopoulou, Jeremy F McRae, Siavash Fazel Darbandi, David Knowles, Yang I Li, Jack A Kosmicki, Juan Arbelaez, Wenwu Cui, Grace B Schwartz,[...]. Cell 2019
306
16

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
15

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
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
610
14

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Hane Lee, Alden Y Huang, Lee-Kai Wang, Amanda J Yoon, Genecee Renteria, Ascia Eskin, Rebecca H Signer, Naghmeh Dorrani, Shirley Nieves-Rodriguez, Jijun Wan,[...]. Genet Med 2020
34
41

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Ewa Pronicka, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Joanna Trubicka, Dariusz Rokicki, Agnieszka Karkucińska-Więckowska, Magdalena Pajdowska, Elżbieta Jurkiewicz, Paulina Halat, Joanna Kosińska,[...]. J Transl Med 2016
110
13

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Masakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita, Hiromi Nyuzuki, Yohsuke Moriyama, Yosuke Mizuno, Tomoko Hirata, Yukiko Yatsuka, Yzumi Yamashita-Sugahara, Yutaka Nakachi,[...]. PLoS Genet 2016
144
12

OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data.
Felix Brechtmann, Christian Mertes, Agnė Matusevičiūtė, Vicente A Yépez, Žiga Avsec, Maximilian Herzog, Daniel M Bader, Holger Prokisch, Julien Gagneur. Am J Hum Genet 2018
24
50

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
12

Mitochondrial diseases.
Gráinne S Gorman, Patrick F Chinnery, Salvatore DiMauro, Michio Hirano, Yasutoshi Koga, Robert McFarland, Anu Suomalainen, David R Thorburn, Massimo Zeviani, Douglass M Turnbull. Nat Rev Dis Primers 2016
431
11

STAR: ultrafast universal RNA-seq aligner.
Alexander Dobin, Carrie A Davis, Felix Schlesinger, Jorg Drenkow, Chris Zaleski, Sonali Jha, Philippe Batut, Mark Chaisson, Thomas R Gingeras. Bioinformatics 2013
11

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
454
11

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Robert W Taylor, Angela Pyle, Helen Griffin, Emma L Blakely, Jennifer Duff, Langping He, Tania Smertenko, Charlotte L Alston, Vivienne C Neeve, Andrew Best,[...]. JAMA 2014
207
10

Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complex.
Heinrich Heide, Lea Bleier, Mirco Steger, Jörg Ackermann, Stefan Dröse, Bettina Schwamb, Martin Zörnig, Andreas S Reichert, Ina Koch, Ilka Wittig,[...]. Cell Metab 2012
182
10

Whole exome sequencing of suspected mitochondrial patients in clinical practice.
Saskia B Wortmann, David A Koolen, Jan A Smeitink, Lambert van den Heuvel, Richard J Rodenburg. J Inherit Metab Dis 2015
117
10

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
809
10

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
165
10

Accessory subunits are integral for assembly and function of human mitochondrial complex I.
David A Stroud, Elliot E Surgenor, Luke E Formosa, Boris Reljic, Ann E Frazier, Marris G Dibley, Laura D Osellame, Tegan Stait, Traude H Beilharz, David R Thorburn,[...]. Nature 2016
189
10


Translating RNA sequencing into clinical diagnostics: opportunities and challenges.
Sara A Byron, Kendall R Van Keuren-Jensen, David M Engelthaler, John D Carpten, David W Craig. Nat Rev Genet 2016
275
10

Advancing genomic approaches to the molecular diagnosis of mitochondrial disease.
Sarah Louise Stenton, Holger Prokisch. Essays Biochem 2018
32
28

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.
D C Wallace, G Singh, M T Lott, J A Hodge, T G Schurr, A M Lezza, L J Elsas, E K Nikoskelainen. Science 1988
9

Annotation-free quantification of RNA splicing using LeafCutter.
Yang I Li, David A Knowles, Jack Humphrey, Alvaro N Barbeira, Scott P Dickinson, Hae Kyung Im, Jonathan K Pritchard. Nat Genet 2018
161
9

Targeted exome sequencing of suspected mitochondrial disorders.
Daniel S Lieber, Sarah E Calvo, Kristy Shanahan, Nancy G Slate, Shangtao Liu, Steven G Hershman, Nina B Gold, Brad A Chapman, David R Thorburn, Gerard T Berry,[...]. Neurology 2013
105
8

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
188
8

"Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.
Laura S Kremer, Saskia B Wortmann, Holger Prokisch. J Inherit Metab Dis 2018
18
44

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
570
8

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
257
8

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing.
Ahmed Alfares, Taghrid Aloraini, Lamia Al Subaie, Abdulelah Alissa, Ahmed Al Qudsi, Ahmed Alahmad, Fuad Al Mutairi, Abdulrahman Alswaid, Ali Alothaim, Wafaa Eyaid,[...]. Genet Med 2018
58
13

The Assembly Pathway of Mitochondrial Respiratory Chain Complex I.
Sergio Guerrero-Castillo, Fabian Baertling, Daniel Kownatzki, Hans J Wessels, Susanne Arnold, Ulrich Brandt, Leo Nijtmans. Cell Metab 2017
177
8

ClinVar: public archive of relationships among sequence variation and human phenotype.
Melissa J Landrum, Jennifer M Lee, George R Riley, Wonhee Jang, Wendy S Rubinstein, Deanna M Church, Donna R Maglott. Nucleic Acids Res 2014
8

Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification.
A Ohtake, K Murayama, M Mori, H Harashima, T Yamazaki, S Tamaru, Y Yamashita, Y Kishita, Y Nakachi, M Kohda,[...]. Biochim Biophys Acta 2014
34
23

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
Tobias B Haack, Katharina Danhauser, Birgit Haberberger, Jonathan Hoser, Valentina Strecker, Detlef Boehm, Graziella Uziel, Eleonora Lamantea, Federica Invernizzi, Joanna Poulton,[...]. Nat Genet 2010
167
8

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Tom E J Theunissen, Minh Nguyen, Rick Kamps, Alexandra T Hendrickx, Suzanne C E H Sallevelt, Ralph W H Gottschalk, Chantal M Calis, Alphons P M Stassen, Bart de Koning, Elvira N M Mulder-Den Hartog,[...]. Front Genet 2018
32
25

Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq.
Joseph K Aicher, Paul Jewell, Jorge Vaquero-Garcia, Yoseph Barash, Elizabeth J Bhoj. Genet Med 2020
12
66

Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.
Sarah L Stenton, Holger Prokisch. EBioMedicine 2020
32
25

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Sarah E Calvo, Alison G Compton, Steven G Hershman, Sze Chern Lim, Daniel S Lieber, Elena J Tucker, Adrienne Laskowski, Caterina Garone, Shangtao Liu, David B Jaffe,[...]. Sci Transl Med 2012
301
7

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.
Andrea Legati, Aurelio Reyes, Alessia Nasca, Federica Invernizzi, Eleonora Lamantea, Valeria Tiranti, Barbara Garavaglia, Costanza Lamperti, Anna Ardissone, Isabella Moroni,[...]. Biochim Biophys Acta 2016
61
11

The architecture of respiratory supercomplexes.
James A Letts, Karol Fiedorczuk, Leonid A Sazanov. Nature 2016
270
7

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins.
Sarah E Calvo, Karl R Clauser, Vamsi K Mootha. Nucleic Acids Res 2016
734
7

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.
John P Grady, Sarah J Pickett, Yi Shiau Ng, Charlotte L Alston, Emma L Blakely, Steven A Hardy, Catherine L Feeney, Alexandra A Bright, Andrew M Schaefer, Gráinne S Gorman,[...]. EMBO Mol Med 2018
88
7

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Charlotte L Alston, Juliana Heidler, Marris G Dibley, Laura S Kremer, Lucie S Taylor, Carl Fratter, Courtney E French, Ruth I C Glasgow, René G Feichtinger, Isabelle Delon,[...]. Am J Hum Genet 2018
29
24

Integrative omics for health and disease.
Konrad J Karczewski, Michael P Snyder. Nat Rev Genet 2018
267
7

Pathogenic variants that alter protein code often disrupt splicing.
Rachel Soemedi, Kamil J Cygan, Christy L Rhine, Jing Wang, Charlston Bulacan, John Yang, Pinar Bayrak-Toydemir, Jamie McDonald, William G Fairbrother. Nat Genet 2017
87
8

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
Peter D Stenson, Matthew Mort, Edward V Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D Phillips, David N Cooper. Hum Genet 2017
617
7

Deep intronic mutations and human disease.
Rita Vaz-Drago, Noélia Custódio, Maria Carmo-Fonseca. Hum Genet 2017
150
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.