A citation-based method for searching scientific literature

Ann E Frazier, Alison G Compton, Yoshihito Kishita, Daniella H Hock, AnneMarie E Welch, Sumudu S C Amarasekera, Rocio Rius, Luke E Formosa, Atsuko Imai-Okazaki, David Francis, Min Wang, Nicole J Lake, Simone Tregoning, Jafar S Jabbari, Alexis Lucattini, Kazuhiro R Nitta, Akira Ohtake, Kei Murayama, David J Amor, George McGillivray, Flora Y Wong, Marjo S van der Knaap, R Jeroen Vermeulen, Esko J Wiltshire, Janice M Fletcher, Barry Lewis, Gareth Baynam, Carolyn Ellaway, Shanti Balasubramaniam, Kaustuv Bhattacharya, Mary-Louise Freckmann, Susan Arbuckle, Michael Rodriguez, Ryan J Taft, Simon Sadedin, Mark J Cowley, André E Minoche, Sarah E Calvo, Vamsi K Mootha, Michael T Ryan, Yasushi Okazaki, David A Stroud, Cas Simons, John Christodoulou, David R Thorburn. Med (N Y) 2021
Times Cited: 6







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



Times Cited
  Times     Co-cited
Similarity


ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Radha Desai, Ann E Frazier, Romina Durigon, Harshil Patel, Aleck W Jones, Ilaria Dalla Rosa, Nicole J Lake, Alison G Compton, Hayley S Mountford, Elena J Tucker,[...]. Brain 2017
52
83

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
83

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Adam C Gunning, Klaudia Strucinska, Mikel Muñoz Oreja, Andrew Parrish, Richard Caswell, Karen L Stals, Romina Durigon, Karina Durlacher-Betzer, Mitchell H Cunningham, Christopher M Grochowski,[...]. Am J Hum Genet 2020
12
66

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.
Helen M Cooper, Yang Yang, Emil Ylikallio, Rafil Khairullin, Rosa Woldegebriel, Kai-Lan Lin, Liliya Euro, Eino Palin, Alexander Wolf, Ras Trokovic,[...]. Hum Mol Genet 2017
34
66

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
197
50

ATAD3A oligomerization causes neurodegeneration by coupling mitochondrial fragmentation and bioenergetics defects.
Yuanyuan Zhao, Xiaoyan Sun, Di Hu, Domenick A Prosdocimo, Charles Hoppel, Mukesh K Jain, Rajesh Ramachandran, Xin Qi. Nat Commun 2019
26
50

Mitochondrial nucleoid interacting proteins support mitochondrial protein synthesis.
J He, H M Cooper, A Reyes, M Di Re, H Sembongi, T R Litwin, J Gao, K C Neuman, I M Fearnley, A Spinazzola,[...]. Nucleic Acids Res 2012
124
50

The AAA+ ATPase ATAD3A controls mitochondrial dynamics at the interface of the inner and outer membranes.
Benoît Gilquin, Emmanuel Taillebourg, Nadia Cherradi, Arnaud Hubstenberger, Olivia Gay, Nicolas Merle, Nicole Assard, Marie-Odile Fauvarque, Shiho Tomohiro, Osamu Kuge,[...]. Mol Cell Biol 2010
82
50


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
78
33

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
33

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
213
33

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
183
33

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
33

Integrative omics for health and disease.
Konrad J Karczewski, Michael P Snyder. Nat Rev Genet 2018
281
33

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.
Laura Sánchez-Caballero, Benedetta Ruzzenente, Lucas Bianchi, Zahra Assouline, Giulia Barcia, Metodi D Metodiev, Marlène Rio, Benoît Funalot, Mariël A M van den Brand, Sergio Guerrero-Castillo,[...]. Am J Hum Genet 2016
32
33

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
33

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
Charlotte L Alston, Alison G Compton, Luke E Formosa, Valentina Strecker, Monika Oláhová, Tobias B Haack, Joél Smet, Katrien Stouffs, Peter Diakumis, Elżbieta Ciara,[...]. Am J Hum Genet 2016
37
33

First-line genomic diagnosis of mitochondrial disorders.
F Lucy Raymond, Rita Horvath, Patrick F Chinnery. Nat Rev Genet 2018
20
33

TMEM70 functions in the assembly of complexes I and V.
Laura Sánchez-Caballero, Dei M Elurbe, Fabian Baertling, Sergio Guerrero-Castillo, Mariel van den Brand, Joeri van Strien, Teunis J P van Dam, Richard Rodenburg, Ulrich Brandt, Martijn A Huynen,[...]. Biochim Biophys Acta Bioenerg 2020
21
33

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.
Karlien L M Coene, Leo A J Kluijtmans, Ed van der Heeft, Udo F H Engelke, Siebolt de Boer, Brechtje Hoegen, Hanneke J T Kwast, Maartje van de Vorst, Marleen C D G Huigen, Irene M L W Keularts,[...]. J Inherit Metab Dis 2018
66
33

Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.
Sarah L Stenton, Holger Prokisch. EBioMedicine 2020
37
33

Detection of aberrant splicing events in RNA-seq data using FRASER.
Christian Mertes, Ines F Scheller, Vicente A Yépez, Muhammed H Çelik, Yingjiqiong Liang, Laura S Kremer, Mirjana Gusic, Holger Prokisch, Julien Gagneur. Nat Commun 2021
11
33

Widespread macromolecular interaction perturbations in human genetic disorders.
Nidhi Sahni, Song Yi, Mikko Taipale, Juan I Fuxman Bass, Jasmin Coulombe-Huntington, Fan Yang, Jian Peng, Jochen Weile, Georgios I Karras, Yang Wang,[...]. Cell 2015
273
33

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
33

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
14
33

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
204
33

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
121
33

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
89
33

A Quantitative Proteome Map of the Human Body.
Lihua Jiang, Meng Wang, Shin Lin, Ruiqi Jian, Xiao Li, Joanne Chan, Guanlan Dong, Huaying Fang, Aaron E Robinson, Michael P Snyder. Cell 2020
43
33

Building a complex complex: Assembly of mitochondrial respiratory chain complex I.
Luke E Formosa, Marris G Dibley, David A Stroud, Michael T Ryan. Semin Cell Dev Biol 2018
68
33

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
148
33

Transcriptomic signatures across human tissues identify functional rare genetic variation.
Nicole M Ferraro, Benjamin J Strober, Jonah Einson, Nathan S Abell, Francois Aguet, Alvaro N Barbeira, Margot Brandt, Maja Bucan, Stephane E Castel, Joe R Davis,[...]. Science 2020
27
33

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
33

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
33

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins.
Sarah E Calvo, Karl R Clauser, Vamsi K Mootha. Nucleic Acids Res 2016
752
33

Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.
Susana Peralta, Adrián González-Quintana, Marta Ybarra, Aitor Delmiro, Rafael Pérez-Pérez, Jorge Docampo, Joaquín Arenas, Alberto Blázquez, Cristina Ugalde, Miguel A Martín. Mol Genet Metab 2019
6
33

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
33

Mitochondrial DNA in innate immune responses and inflammatory pathology.
A Phillip West, Gerald S Shadel. Nat Rev Immunol 2017
334
33

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
33

Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology.
Ann E Frazier, David R Thorburn, Alison G Compton. J Biol Chem 2019
94
33

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
456
33

Atad3 function is essential for early post-implantation development in the mouse.
Tobias Goller, Ursula K Seibold, Elisabeth Kremmer, Wolfgang Voos, Waldemar Kolanus. PLoS One 2013
28
33

Mitochondrial dysfunction caused by novel ATAD3A mutations.
Nathalie Dorison, Pauline Gaignard, Aurélien Bayot, Antoinette Gelot, Pierre Hadrien Becker, Salma Fourati, Elise Lebigot, Perrine Charles, Timothy Wai, Patrice Therond,[...]. Mol Genet Metab 2020
4
50

Mitochondria-associated membrane formation in hormone-stimulated Leydig cell steroidogenesis: role of ATAD3.
Leeyah Issop, Jinjiang Fan, Sunghoon Lee, Malena B Rone, Kaustuv Basu, Jeannie Mui, Vassilios Papadopoulos. Endocrinology 2015
80
33

C. elegans ATAD-3 is essential for mitochondrial activity and development.
Michael Hoffmann, Nadège Bellance, Rodrigue Rossignol, Werner J H Koopman, Peter H G M Willems, Ertan Mayatepek, Olaf Bossinger, Felix Distelmaier. PLoS One 2009
45
33

A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome.
Ilana Hanes, Hugh J McMillan, Yoko Ito, Kristin D Kernohan, Joanna Lazier, Matthew A Lines, David A Dyment. Neurol Genet 2020
3
66

A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data.
Ramakrishnan Rajagopalan, Jill R Murrell, Minjie Luo, Laura K Conlin. Genome Med 2020
13
16

Expression Atlas update: from tissues to single cells.
Irene Papatheodorou, Pablo Moreno, Jonathan Manning, Alfonso Muñoz-Pomer Fuentes, Nancy George, Silvie Fexova, Nuno A Fonseca, Anja Füllgrabe, Matthew Green, Ni Huang,[...]. Nucleic Acids Res 2020
120
16



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.