A citation-based method for searching scientific literature

Andre E Minoche, Ben Lundie, Greg B Peters, Thomas Ohnesorg, Mark Pinese, David M Thomas, Andreas Zankl, Tony Roscioli, Nicole Schonrock, Sarah Kummerfeld, Leslie Burnett, Marcel E Dinger, Mark J Cowley. Genome Med 2021
Times Cited: 2







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



Times Cited
  Times     Co-cited
Similarity


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
100

Integrative genomics viewer.
James T Robinson, Helga Thorvaldsdóttir, Wendy Winckler, Mitchell Guttman, Eric S Lander, Gad Getz, Jill P Mesirov. Nat Biotechnol 2011
100

Novel (ovario) leukodystrophy related to AARS2 mutations.
Cristina Dallabona, Daria Diodato, Sietske H Kevelam, Tobias B Haack, Lee-Jun Wong, Gajja S Salomons, Enrico Baruffini, Laura Melchionda, Caterina Mariotti, Tim M Strom,[...]. Neurology 2014
119
50

Exome sequence read depth methods for identifying copy number changes.
Latha Kadalayil, Sajjad Rafiq, Matthew J J Rose-Zerilli, Reuben J Pengelly, Helen Parker, David Oscier, Jonathan C Strefford, William J Tapper, Jane Gibson, Sarah Ennis,[...]. Brief Bioinform 2015
46
50

A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era.
Saskia B Wortmann, Johannes A Mayr, Jean Marc Nuoffer, Holger Prokisch, Wolfgang Sperl. Neuropediatrics 2017
25
50

Genetic diagnosis of Mendelian disorders via RNA sequencing.
Laura S Kremer, Daniel M Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile,[...]. Nat Commun 2017
194
50

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
31
50

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
Damian Smedley, Max Schubach, Julius O B Jacobsen, Sebastian Köhler, Tomasz Zemojtel, Malte Spielmann, Marten Jäger, Harry Hochheiser, Nicole L Washington, Julie A McMurry,[...]. Am J Hum Genet 2016
98
50

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
50

Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.
Zornitza Stark, Tiffany Boughtwood, Peta Phillips, John Christodoulou, David P Hansen, Jeffrey Braithwaite, Ainsley J Newson, Clara L Gaff, Andrew H Sinclair, Kathryn N North. Am J Hum Genet 2019
34
50

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
201
50

Expansion of the clinical spectrum associated with AARS2-related disorders.
Siddharth Srivastava, Ankur Butala, Sonal Mahida, John Richter, Weiyi Mu, Andrea Poretti, Hilary Vernon, Jay VanGerpen, Paldeep S Atwal, Erik H Middlebrooks,[...]. Am J Med Genet A 2019
9
50

GEMINI: integrative exploration of genetic variation and genome annotations.
Umadevi Paila, Brad A Chapman, Rory Kirchner, Aaron R Quinlan. PLoS Comput Biol 2013
236
50

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
103
50

Seave: a comprehensive web platform for storing and interrogating human genomic variation.
Velimir Gayevskiy, Tony Roscioli, Marcel E Dinger, Mark J Cowley. Bioinformatics 2019
17
50

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
113
50

A general framework for estimating the relative pathogenicity of human genetic variants.
Martin Kircher, Daniela M Witten, Preti Jain, Brian J O'Roak, Gregory M Cooper, Jay Shendure. Nat Genet 2014
50

Mitochondrial disease criteria: diagnostic applications in children.
E Morava, L van den Heuvel, F Hol, M C de Vries, M Hogeveen, R J Rodenburg, J A M Smeitink. Neurology 2006
145
50

Towards understanding human mitochondrial leucine aminoacylation identity.
Bénédicte Sohm, Magali Frugier, Hervé Brulé, Krzysztof Olszak, Anna Przykorska, Catherine Florentz. J Mol Biol 2003
72
50

Clinical sequencing: is WGS the better WES?
Janine Meienberg, Rémy Bruggmann, Konrad Oexle, Gabor Matyas. Hum Genet 2016
122
50

Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP.
Sanjay Sonney, Jeremy Leipzig, Marie T Lott, Shiping Zhang, Vincent Procaccio, Douglas C Wallace, Neal Sondheimer. PLoS Comput Biol 2017
37
50

Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle.
John P Grady, Julie L Murphy, Emma L Blakely, Ronald G Haller, Robert W Taylor, Doug M Turnbull, Helen A L Tuppen. PLoS One 2014
35
50

The neurological evolution of Pearson syndrome: case report and literature review.
Hsiu-Fen Lee, Huei-Jane Lee, Ching-Shiang Chi, Chi-Ren Tsai, Te-Kau Chang, Chau-Jong Wang. Eur J Paediatr Neurol 2007
38
50

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.
Rashesh V Sanghvi, Christian J Buhay, Bradford C Powell, Ellen A Tsai, Michael O Dorschner, Celine S Hong, Matthew S Lebo, Ariella Sasson, David S Hanna, Sean McGee,[...]. Genet Med 2018
12
50

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.
Liliya Euro, Svetlana Konovalova, Jorge Asin-Cayuela, Már Tulinius, Helen Griffin, Rita Horvath, Robert W Taylor, Patrick F Chinnery, Ulrike Schara, David R Thorburn,[...]. Front Genet 2015
33
50

HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV.
Daniella H Hock, Boris Reljic, Ching-Seng Ang, Linden Muellner-Wong, Hayley S Mountford, Alison G Compton, Michael T Ryan, David R Thorburn, David A Stroud. Mol Cell Proteomics 2020
12
50

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.
Rocio Rius, Lisa G Riley, Yiran Guo, Minal Menezes, Alison G Compton, Nicole J Van Bergen, Velimir Gayevskiy, Mark J Cowley, Beryl B Cummings, Louisa Adams,[...]. Mol Genet Metab 2019
7
50

Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease.
Matias Wagner, Riccardo Berutti, Bettina Lorenz-Depiereux, Elisabeth Graf, Gertrud Eckstein, Johannes A Mayr, Thomas Meitinger, Uwe Ahting, Holger Prokisch, Tim M Strom,[...]. J Inherit Metab Dis 2019
31
50

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.
Sanna Puusepp, Karit Reinson, Sander Pajusalu, Ülle Murumets, Eve Õiglane-Shlik, Reet Rein, Inga Talvik, Richard J Rodenburg, Katrin Õunap. Mol Genet Metab Rep 2018
17
50

Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.
Guy Helman, Alison G Compton, Daniella H Hock, Marzena Walkiewicz, Gemma R Brett, Lynn Pais, Tiong Y Tan, Ricardo De Paoli-Iseppi, Michael B Clark, John Christodoulou,[...]. Hum Mutat 2021
3
50

Mamit-tRNA, a database of mammalian mitochondrial tRNA primary and secondary structures.
Joern Pütz, Bruno Dupuis, Marie Sissler, Catherine Florentz. RNA 2007
104
50

A framework for variation discovery and genotyping using next-generation DNA sequencing data.
Mark A DePristo, Eric Banks, Ryan Poplin, Kiran V Garimella, Jared R Maguire, Christopher Hartl, Anthony A Philippakis, Guillermo del Angel, Manuel A Rivas, Matt Hanna,[...]. Nat Genet 2011
50

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
Tobias B Haack, Birgit Haberberger, Eva-Maria Frisch, Thomas Wieland, Arcangela Iuso, Matteo Gorza, Valentina Strecker, Elisabeth Graf, Johannes A Mayr, Ulrike Herberg,[...]. J Med Genet 2012
115
50

Mitochondrial medicine in the omics era.
Joyeeta Rahman, Shamima Rahman. Lancet 2018
89
50

Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques.
Anna Rohlin, Josephine Wernersson, Yvonne Engwall, Leif Wiklund, Jan Björk, Margareta Nordling. Hum Mutat 2009
107
50

Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation.
David Czell, Angela Abicht, Jürgen Hench, Markus Weber. BMJ Case Rep 2012
5
50

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders.
Hong Cui, Fangyuan Li, David Chen, Guoli Wang, Cavatina K Truong, Gregory M Enns, Brett Graham, Margherita Milone, Megan L Landsverk, Jing Wang,[...]. Genet Med 2013
62
50


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
84
50

The Ensembl Variant Effect Predictor.
William McLaren, Laurent Gil, Sarah E Hunt, Harpreet Singh Riat, Graham R S Ritchie, Anja Thormann, Paul Flicek, Fiona Cunningham. Genome Biol 2016
50

Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica).
Piero Farruggia, Andrea Di Cataldo, Rita M Pinto, Elena Palmisani, Alessandra Macaluso, Laura Lo Valvo, Maria E Cantarini, Assunta Tornesello, Paola Corti, Francesca Fioredda,[...]. JIMD Rep 2016
21
50

Predicting the functional effect of amino acid substitutions and indels.
Yongwook Choi, Gregory E Sims, Sean Murphy, Jason R Miller, Agnes P Chan. PLoS One 2012
50

mtDNA Variation and Analysis Using Mitomap and Mitomaster.
Marie T Lott, Jeremy N Leipzig, Olga Derbeneva, H Michael Xie, Dimitra Chalkia, Mahdi Sarmady, Vincent Procaccio, Douglas C Wallace. Curr Protoc Bioinformatics 2013
223
50


Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Nicole J Lake, Bryn D Webb, David A Stroud, Tara R Richman, Benedetta Ruzzenente, Alison G Compton, Hayley S Mountford, Juliette Pulman, Coralie Zangarelli, Marlene Rio,[...]. Am J Hum Genet 2017
47
50

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
50

Accurate and comprehensive analysis of single nucleotide variants and large deletions of the human mitochondrial genome in DNA and single cells.
Filippo Zambelli, Kim Vancampenhout, Dorien Daneels, Daniel Brown, Joke Mertens, Sonia Van Dooren, Ben Caljon, Luca Gianaroli, Karen Sermon, Thierry Voet,[...]. Eur J Hum Genet 2017
7
50

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.
Lauren S Akesson, Stefanie Eggers, Clare J Love, Belinda Chong, Emma I Krzesinski, Natasha J Brown, Tiong Y Tan, Christopher M Richmond, David R Thorburn, John Christodoulou,[...]. Eur J Hum Genet 2019
8
50

Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.
Sarah L Stenton, Holger Prokisch. EBioMedicine 2020
24
50

Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome.
Takahiro Ikeda, Hitoshi Osaka, Hiroko Shimbo, Makiko Tajika, Masayo Yamazaki, Ayako Ueda, Kei Murayama, Takanori Yamagata. Hum Genome Var 2018
6
50


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.