A citation-based method for searching scientific literature

Chiara Di Resta, Giovanni Battista Pipitone, Paola Carrera, Maurizio Ferrari. Neural Regen Res 2021
Times Cited: 2







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



Times Cited
  Times     Co-cited
Similarity


Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.
Jeana T DaRe, Valeria Vasta, John Penn, Nguyen-Thao B Tran, Si Houn Hahn. BMC Med Genet 2013
40
50

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Dustin Baldridge, Jennifer Heeley, Marisa Vineyard, Linda Manwaring, Tomi L Toler, Emily Fassi, Elise Fiala, Sarah Brown, Charles W Goss, Marcia Willing,[...]. Genet Med 2017
44
50

Rapid whole genome sequencing and precision neonatology.
Joshua E Petrikin, Laurel K Willig, Laurie D Smith, Stephen F Kingsmore. Semin Perinatol 2015
104
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
35
50

Evolution of genetic techniques: past, present, and beyond.
Asude Alpman Durmaz, Emin Karaca, Urszula Demkow, Gokce Toruner, Jacqueline Schoumans, Ozgur Cogulu. Biomed Res Int 2015
27
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
29
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
114
50

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Sarah J Beecroft, Kyle S Yau, Richard J N Allcock, Kym Mina, Rebecca Gooding, Fathimath Faiz, Vanessa J Atkinson, Cheryl Wise, Padma Sivadorai, Daniel Trajanoski,[...]. Ann Clin Transl Neurol 2020
8
50


Diagnostic odyssey of patients with myotonic dystrophy.
James E Hilbert, Tetsuo Ashizawa, John W Day, Elizabeth A Luebbe, William B Martens, Michael P McDermott, Rabi Tawil, Charles A Thornton, Richard T Moxley. J Neurol 2013
49
50

Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.
Stefania Zampatti, Luca Colantoni, Claudia Strafella, Rosaria Maria Galota, Valerio Caputo, Giulia Campoli, Giulia Pagliaroli, Stefania Carboni, Julia Mela, Cristina Peconi,[...]. Neurogenetics 2019
6
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
50

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.
Natasha T Strande, Sarah E Brnich, Tamara S Roman, Jonathan S Berg. Genet Med 2018
22
50

Improving genetic diagnostics of skeletal muscle channelopathies.
Vinojini Vivekanandam, Roope Männikkö, Emma Matthews, Michael G Hanna. Expert Rev Mol Diagn 2020
4
50

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Sarah E Calvo, Elena J Tucker, Alison G Compton, Denise M Kirby, Gabriel Crawford, Noel P Burtt, Manuel Rivas, Candace Guiducci, Damien L Bruno, Olga A Goldberger,[...]. Nat Genet 2010
265
50

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.
Deborah Schofield, Khurshid Alam, Lyndal Douglas, Rupendra Shrestha, Daniel G MacArthur, Mark Davis, Nigel G Laing, Nigel F Clarke, Joshua Burns, Sandra T Cooper,[...]. NPJ Genom Med 2017
40
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
30
50

Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.
Mahmoud Fawzi Elsaid, Nader Chalhoub, Tawfeg Ben-Omran, Pankaj Kumar, Hussein Kamel, Khalid Ibrahim, Yasmin Mohamoud, Eman Al-Dous, Iman Al-Azwani, Joel A Malek,[...]. Ann Neurol 2017
38
50

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
16
50

Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?
Maria Carmela Pera, Giorgia Coratti, Beatrice Berti, Adele D'Amico, Maria Sframeli, Emilio Albamonte, Roberto de Sanctis, Sonia Messina, Michela Catteruccia, Giorgia Brigati,[...]. PLoS One 2020
12
50

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.
Tarunashree Yavarna, Nader Al-Dewik, Mariam Al-Mureikhi, Rehab Ali, Fatma Al-Mesaifri, Laila Mahmoud, Noora Shahbeck, Shenela Lakhani, Mariam AlMulla, Zafar Nawaz,[...]. Hum Genet 2015
114
50

Early Referral to an ALS Center Reduces Several Months the Diagnostic Delay: A Multicenter-Based Study.
Marina Martínez-Molina, Herminia Argente-Escrig, Margarita F Polo, David Hervás, Marina Frasquet, Victoria Cortés, Teresa Sevilla, Juan F Vázquez-Costa. Front Neurol 2020
2
50

Analysis of short tandem repeat expansions and their methylation state with nanopore sequencing.
Pay Giesselmann, Björn Brändl, Etienne Raimondeau, Rebecca Bowen, Christian Rohrandt, Rashmi Tandon, Helene Kretzmer, Günter Assum, Christina Galonska, Reiner Siebert,[...]. Nat Biotechnol 2019
37
50

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.
Eugenio Mercuri, Basil T Darras, Claudia A Chiriboga, John W Day, Craig Campbell, Anne M Connolly, Susan T Iannaccone, Janbernd Kirschner, Nancy L Kuntz, Kayoko Saito,[...]. N Engl J Med 2018
528
50

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.
Véronique Bolduc, A Reghan Foley, Herimela Solomon-Degefa, Apurva Sarathy, Sandra Donkervoort, Ying Hu, Grace S Chen, Katherine Sizov, Matthew Nalls, Haiyan Zhou,[...]. JCI Insight 2019
16
50

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement.
Kai Wang, Cecilia Kim, Jonathan Bradfield, Yunfei Guo, Elina Toskala, Frederick G Otieno, Cuiping Hou, Kelly Thomas, Christopher Cardinale, Gholson J Lyon,[...]. Genome Med 2013
53
50

The genetic architecture of ALS.
Aleksey Shatunov, Ammar Al-Chalabi. Neurobiol Dis 2021
10
50

Opportunities and challenges of whole-genome and -exome sequencing.
Britt-Sabina Petersen, Broder Fredrich, Marc P Hoeppner, David Ellinghaus, Andre Franke. BMC Genet 2017
88
50

Targeted next-generation sequencing assay for detection of mutations in primary myopathies.
Anni Evilä, Meharji Arumilli, Bjarne Udd, Peter Hackman. Neuromuscul Disord 2016
61
50

Nanopore-based single molecule sequencing of the D4Z4 array responsible for facioscapulohumeral muscular dystrophy.
Satomi Mitsuhashi, So Nakagawa, Mahoko Takahashi Ueda, Tadashi Imanishi, Martin C Frith, Hiroaki Mitsuhashi. Sci Rep 2017
22
50

Genetic approaches to the treatment of inherited neuromuscular diseases.
Bhavya Ravi, Anthony Antonellis, Charlotte J Sumner, Andrew P Lieberman. Hum Mol Genet 2019
10
50

Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease.
Mark T W Ebbert, Stefan L Farrugia, Jonathon P Sens, Karen Jansen-West, Tania F Gendron, Mercedes Prudencio, Ian J McLaughlin, Brett Bowman, Matthew Seetin, Mariely DeJesus-Hernandez,[...]. Mol Neurodegener 2018
44
50

Advantages and Perils of Clinical Whole-Exome and Whole-Genome Sequencing in Cardiomyopathy.
Francesco Mazzarotto, Iacopo Olivotto, Roddy Walsh. Cardiovasc Drugs Ther 2020
12
50

217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29-31 January 2016.
Heinz Jungbluth, James J Dowling, Ana Ferreiro, Francesco Muntoni. Neuromuscul Disord 2016
25
50

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
D R Rosen, T Siddique, D Patterson, D A Figlewicz, P Sapp, A Hentati, D Donaldson, J Goto, J P O'Regan, H X Deng. Nature 1993
50

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
Roula Ghaoui, Sandra T Cooper, Monkol Lek, Kristi Jones, Alastair Corbett, Stephen W Reddel, Merrilee Needham, Christina Liang, Leigh B Waddell, Garth Nicholson,[...]. JAMA Neurol 2015
108
50

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
50

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.
Gladys Montenegro, Eric Powell, Jia Huang, Fiorella Speziani, Yvonne J K Edwards, Gary Beecham, William Hulme, Carly Siskind, Jeffery Vance, Michael Shy,[...]. Ann Neurol 2011
92
50

The structure of DNA.
J D WATSON, F H CRICK. Cold Spring Harb Symp Quant Biol 1953
522
50

DNA sequencing with chain-terminating inhibitors.
F Sanger, S Nicklen, A R Coulson. Proc Natl Acad Sci U S A 1977
50

Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing.
Wenbo Mu, Hsiao-Mei Lu, Jefferey Chen, Shuwei Li, Aaron M Elliott. J Mol Diagn 2016
96
50

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.
Arunkanth Ankala, Cristina da Silva, Francesca Gualandi, Alessandra Ferlini, Lora J H Bean, Christin Collins, Alice K Tanner, Madhuri R Hegde. Ann Neurol 2015
103
50



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
65
50


NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.
Ana Fernandez-Marmiesse, Sofia Gouveia, Maria L Couce. Curr Med Chem 2018
56
50

Next-generation sequencing in neuromuscular diseases.
Stephanie Efthymiou, Andreea Manole, Henry Houlden. Curr Opin Neurol 2016
18
50


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
275
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.