A citation-based method for searching scientific literature

Kornelia Neveling, Ilse Feenstra, Christian Gilissen, Lies H Hoefsloot, Erik-Jan Kamsteeg, Arjen R Mensenkamp, Richard J T Rodenburg, Helger G Yntema, Liesbeth Spruijt, Sascha Vermeer, Tuula Rinne, Koen L van Gassen, Danielle Bodmer, Dorien Lugtenberg, Rick de Reuver, Wendy Buijsman, Ronny C Derks, Nienke Wieskamp, Bert van den Heuvel, Marjolijn J L Ligtenberg, Hannie Kremer, David A Koolen, Bart P C van de Warrenburg, Frans P M Cremers, Carlo L M Marcelis, Jan A M Smeitink, Saskia B Wortmann, Wendy A G van Zelst-Stams, Joris A Veltman, Han G Brunner, Hans Scheffer, Marcel R Nelen. Hum Mutat 2013
Times Cited: 218







List of co-cited articles
491 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
46

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
24

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
115
16

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
14

A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
12

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
443
11

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
564
11

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
603
11

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
798
10

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
104
9

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
S L Sawyer, T Hartley, D A Dyment, C L Beaulieu, J Schwartzentruber, A Smith, H M Bedford, G Bernard, F P Bernier, B Brais,[...]. Clin Genet 2016
201
8

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
104
8

Diagnostic exome sequencing in persons with severe intellectual disability.
Joep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, Tjitske Kleefstra, Helger G Yntema, Thessa Kroes, Anneke T Vulto-van Silfhout, David A Koolen, Petra de Vries, Christian Gilissen,[...]. N Engl J Med 2012
965
8

Genome sequencing identifies major causes of severe intellectual disability.
Christian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, Maartje van de Vorst, Bregje W M van Bon, Marjolein H Willemsen, Michael Kwint, Irene M Janssen, Alexander Hoischen, Annette Schenck,[...]. Nature 2014
624
8

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Sarah E Soden, Carol J Saunders, Laurel K Willig, Emily G Farrow, Laurie D Smith, Josh E Petrikin, Jean-Baptiste LePichon, Neil A Miller, Isabelle Thiffault, Darrell L Dinwiddie,[...]. Sci Transl Med 2014
313
8


Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
Kelly D Farwell, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Elizabeth C Chao, Brigette Tippin Davis, Ruth M Baxter, Wenqi Zeng, Cameron Mroske, Melissa C Parra,[...]. Genet Med 2015
288
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 usefulness of whole-exome sequencing in routine clinical practice.
Alejandro Iglesias, Kwame Anyane-Yeboa, Julia Wynn, Ashley Wilson, Megan Truitt Cho, Edwin Guzman, Rebecca Sisson, Claire Egan, Wendy K Chung. Genet Med 2014
128
7

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
204
7

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.
Barbara Vona, Tobias Müller, Indrajit Nanda, Cordula Neuner, Michaela A H Hofrichter, Jörg Schröder, Oliver Bartsch, Anne Läßig, Annerose Keilmann, Sebastian Schraven,[...]. Genet Med 2014
55
12

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
7

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Christina M Sloan-Heggen, Amanda O Bierer, A Eliot Shearer, Diana L Kolbe, Carla J Nishimura, Kathy L Frees, Sean S Ephraim, Seiji B Shibata, Kevin T Booth, Colleen A Campbell,[...]. Hum Genet 2016
183
7

A post hoc study on gene panel analysis for the diagnosis of dystonia.
Martje E van Egmond, Coen H A Lugtenberg, Oebele F Brouwer, Maria Fiorella Contarino, Victor S C Fung, M Rebecca Heiner-Fokkema, Jacobus J van Hilten, Annemarie H van der Hout, Kathryn J Peall, Richard J Sinke,[...]. Mov Disord 2017
33
21

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
414
7

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
7

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
26
26

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Rolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, Michael P Kwint, Irene M Janssen, Nicole de Leeuw, Helger G Yntema, Marcel R Nelen, Dorien Lugtenberg, Erik-Jan Kamsteeg,[...]. Genet Med 2017
75
9

Copy number variation detection and genotyping from exome sequence data.
Niklas Krumm, Peter H Sudmant, Arthur Ko, Brian J O'Roak, Maika Malig, Bradley P Coe, Aaron R Quinlan, Deborah A Nickerson, Evan E Eichler. Genome Res 2012
362
7

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
6

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
300
6

Exome sequencing as a tool for Mendelian disease gene discovery.
Michael J Bamshad, Sarah B Ng, Abigail W Bigham, Holly K Tabor, Mary J Emond, Deborah A Nickerson, Jay Shendure. Nat Rev Genet 2011
6

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
142
6

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Sarah S Kalia, Kathy Adelman, Sherri J Bale, Wendy K Chung, Christine Eng, James P Evans, Gail E Herman, Sophia B Hufnagel, Teri E Klein, Bruce R Korf,[...]. Genet Med 2017
814
6


Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.
Tao Yang, Xiaoming Wei, Yongchuan Chai, Lei Li, Hao Wu. Orphanet J Rare Dis 2013
113
6

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins.
Sarah E Calvo, Karl R Clauser, Vamsi K Mootha. Nucleic Acids Res 2016
719
6

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
Stefan H Lelieveld, Margot R F Reijnders, Rolph Pfundt, Helger G Yntema, Erik-Jan Kamsteeg, Petra de Vries, Bert B A de Vries, Marjolein H Willemsen, Tjitske Kleefstra, Katharina Löhner,[...]. Nat Neurosci 2016
220
6

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.
Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, Deborah Schofield, Khurshid Alam, Rupendra Shrestha, Belinda Chong, Dean Phelan, Gemma R Brett, Emma Creed,[...]. JAMA Pediatr 2017
138
6

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
262
6

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Zornitza Stark, Tiong Y Tan, Belinda Chong, Gemma R Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie,[...]. Genet Med 2016
195
6

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
6

Biochemical diagnosis of mitochondrial disorders.
Richard J T Rodenburg. J Inherit Metab Dis 2011
125
5

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
166
5


Exome Sequencing and the Management of Neurometabolic Disorders.
Maja Tarailo-Graovac, Casper Shyr, Colin J Ross, Gabriella A Horvath, Ramona Salvarinova, Xin C Ye, Lin-Hua Zhang, Amit P Bhavsar, Jessica J Y Lee, Britt I Drögemöller,[...]. N Engl J Med 2016
167
5

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Jenny C Taylor, Hilary C Martin, Stefano Lise, John Broxholme, Jean-Baptiste Cazier, Andy Rimmer, Alexander Kanapin, Gerton Lunter, Simon Fiddy, Chris Allan,[...]. Nat Genet 2015
192
5

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.
Vandana Shashi, Allyn McConkie-Rosell, Bruce Rosell, Kelly Schoch, Kasturi Vellore, Marie McDonald, Yong-Hui Jiang, Pingxing Xie, Anna Need, David B Goldstein. Genet Med 2014
153
5

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.
Maiko Miyagawa, Takehiko Naito, Shin-ya Nishio, Naoyuki Kamatani, Shin-ichi Usami. PLoS One 2013
69
7

Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.
Byung Yoon Choi, Gibeom Park, Jungsoo Gim, Ah Reum Kim, Bong-Jik Kim, Hyo-Sang Kim, Joo Hyun Park, Taesung Park, Seung-Ha Oh, Kyu-Hee Han,[...]. PLoS One 2013
62
8


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.