A citation-based method for searching scientific literature

Mateja Vinkšel, Karin Writzl, Aleš Maver, Borut Peterlin. J Community Genet 2021
Times Cited: 3







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



Times Cited
  Times     Co-cited
Similarity


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
66

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
66

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.
Egor Dolzhenko, Viraj Deshpande, Felix Schlesinger, Peter Krusche, Roman Petrovski, Sai Chen, Dorothea Emig-Agius, Andrew Gross, Giuseppe Narzisi, Brett Bowman,[...]. Bioinformatics 2019
42
33

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
Darío G Lupiáñez, Katerina Kraft, Verena Heinrich, Peter Krawitz, Francesco Brancati, Eva Klopocki, Denise Horn, Hülya Kayserili, John M Opitz, Renata Laxova,[...]. Cell 2015
942
33

Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation.
Ales Maver, Luca Lovrecic, Marija Volk, Gorazd Rudolf, Karin Writzl, Ana Blatnik, Alenka Hodzic, Peterlin Borut. Genet Med 2016
25
33

DELLY: structural variant discovery by integrated paired-end and split-read analysis.
Tobias Rausch, Thomas Zichner, Andreas Schlattl, Adrian M Stütz, Vladimir Benes, Jan O Korbel. Bioinformatics 2012
861
33

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
Anja K Mayer, Caroline Van Cauwenbergh, Christine Rother, Britta Baumann, Peggy Reuter, Elfride De Baere, Bernd Wissinger, Susanne Kohl. Hum Mutat 2017
31
33

Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma.
P H Arn, E R Hauser, G H Thomas, G Herman, D Hess, S W Brusilow. N Engl J Med 1990
134
33

Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival.
Tatiana Cajuso, Päivi Sulo, Tomas Tanskanen, Riku Katainen, Aurora Taira, Ulrika A Hänninen, Johanna Kondelin, Linda Forsström, Niko Välimäki, Mervi Aavikko,[...]. Nat Commun 2019
16
33

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy.
Richard D Bagnall, Jodie Ingles, Marcel E Dinger, Mark J Cowley, Samantha Barratt Ross, André E Minoche, Sean Lal, Christian Turner, Alison Colley, Sulekha Rajagopalan,[...]. J Am Coll Cardiol 2018
78
33

In silico prediction of splice-altering single nucleotide variants in the human genome.
Xueqiu Jian, Eric Boerwinkle, Xiaoming Liu. Nucleic Acids Res 2014
210
33

Contribution of retrotransposition to developmental disorders.
Eugene J Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E Samocha, Juliet Handsaker, Sebastian S Gerety, Holly Ironfield, Patrick J Short, Alejandro Sifrim,[...]. Nat Commun 2019
14
33

Genomic medicine for undiagnosed diseases.
Anastasia L Wise, Teri A Manolio, George A Mensah, Josh F Peterson, Dan M Roden, Cecelia Tamburro, Marc S Williams, Eric D Green. Lancet 2019
30
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
334
33

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
194
33

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
60
33

TREX1 - Apex predator of cytosolic DNA metabolism.
Sean R Simpson, Wayne O Hemphill, Teesha Hudson, Fred W Perrino. DNA Repair (Amst) 2020
6
33

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.
Geraldine A Van der Auwera, Mauricio O Carneiro, Christopher Hartl, Ryan Poplin, Guillermo Del Angel, Ami Levy-Moonshine, Tadeusz Jordan, Khalid Shakir, David Roazen, Joel Thibault,[...]. Curr Protoc Bioinformatics 2013
33

OMIM.org: leveraging knowledge across phenotype-gene relationships.
Joanna S Amberger, Carol A Bocchini, Alan F Scott, Ada Hamosh. Nucleic Acids Res 2019
170
33

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcova, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James Polke,[...]. Nat Genet 2019
120
33

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.
Eline M C Hamilton, Enrico Bertini, Luba Kalaydjieva, Bharti Morar, Dana Dojčáková, Judy Liu, Adeline Vanderver, Julian Curiel, Claudia M Persoon, Daria Diodato,[...]. Neurology 2017
17
33

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Andrea Cortese, Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J Beecroft, Zane Jaunmuktane, Zoe Dyer, Gianina Ravenscroft, Phillipa J Lamont, Stuart Mossman,[...]. Brain 2020
48
33

Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.
Gaber Bergant, Ales Maver, Luca Lovrecic, Goran Čuturilo, Alenka Hodzic, Borut Peterlin. Genet Med 2018
26
33

Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome.
Erika Tavares, Chen Yu Tang, Anjali Vig, Shuning Li, Gail Billingsley, Wilson Sung, Ajoy Vincent, Bhooma Thiruvahindrapuram, Elise Héon. Mol Genet Genomic Med 2019
9
33

Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.
Toshiki Takenouchi, Tomu Kuchikata, Hiroshi Yoshihashi, Mineko Fujiwara, Tomoko Uehara, Sahoko Miyama, Shiro Yamada, Kenjiro Kosaki. Am J Med Genet A 2017
5
33

Whole-genome sequencing of patients with rare diseases in a national health system.
Ernest Turro, William J Astle, Karyn Megy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis-Juan, Mattia Frontini, Chantal Thys,[...]. Nature 2020
91
33

Rare or Overlooked? Structural Disruption of Regulatory Domains in Human Neurocristopathies.
Víctor Sánchez-Gaya, Maria Mariner-Faulí, Alvaro Rada-Iglesias. Front Genet 2020
5
33

Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
Wakako Ogino, Yasuhiro Takeshima, Atsushi Nishiyama, Yo Okizuka, Mariko Yagi, Shuichi Tsuneishi, Kayoko Saiki, Masaaki Kugo, Masafumi Matsuo. Kobe J Med Sci 2007
28
33

X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency.
T Yorifuji, J Muroi, A Uematsu, K Tanaka, K Kiwaki, F Endo, I Matsuda, H Nagasaka, K Furusho. Clin Genet 1998
54
33


Shaping national plans and strategies for rare diseases in Europe: past, present, and future.
Victoria Hedley, Valentina Bottarelli, Ariane Weinman, Domenica Taruscio. J Community Genet 2021
1
100

Clinical genetics in transition-a comparison of genetic services in Estonia, Finland, and the Netherlands.
T Vrijenhoek, N Tonisson, H Kääriäinen, L Leitsalu, T Rigter. J Community Genet 2021
1
100

Curative gene therapies for rare diseases.
Rocio Maldonado, Sami Jalil, Kirmo Wartiovaara. J Community Genet 2021
2
50

European Reference Networks: challenges and opportunities.
Birute Tumiene, Holm Graessner, Irene Mj Mathijssen, Alberto M Pereira, Franz Schaefer, Maurizio Scarpa, Jean-Yves Blay, Helene Dollfus, Nicoline Hoogerbrugge. J Community Genet 2021
3
33

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.
Stéphanie Nguengang Wakap, Deborah M Lambert, Annie Olry, Charlotte Rodwell, Charlotte Gueydan, Valérie Lanneau, Daniel Murphy, Yann Le Cam, Ana Rath. Eur J Hum Genet 2020
168
33

Our greatest untapped resource: our patients.
Matt Bolz-Johnson, Tom Kenny, Yann Le Cam, Ines Hernando. J Community Genet 2021
2
50

Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide.
Martina C Cornel, Tessel Rigter, Marleen E Jansen, Lidewij Henneman. J Community Genet 2021
6
33

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.
Aaron M Wenger, Harendra Guturu, Jonathan A Bernstein, Gill Bejerano. Genet Med 2017
140
33

Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
Eden V Haverfield, Amanda J Whited, Kristin S Petras, William B Dobyns, Soma Das. Eur J Hum Genet 2009
39
33

Insights into genetics, human biology and disease gleaned from family based genomic studies.
Jennifer E Posey, Anne H O'Donnell-Luria, Jessica X Chong, Tamar Harel, Shalini N Jhangiani, Zeynep H Coban Akdemir, Steven Buyske, Davut Pehlivan, Claudia M B Carvalho, Samantha Baxter,[...]. Genet Med 2019
71
33

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
49
33

New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.
Taila Hartley, Gabrielle Lemire, Kristin D Kernohan, Heather E Howley, David R Adams, Kym M Boycott. Annu Rev Genomics Hum Genet 2020
19
33

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives.
Min Zhao, Qingguo Wang, Quan Wang, Peilin Jia, Zhongming Zhao. BMC Bioinformatics 2013
267
33

STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic.
Pavlina Plevova, Martina Paprskarova, Petra Tvrda, Petra Turska, Rastislav Slavkovsky, Eva Mrazkova. Otol Neurotol 2017
15
33

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
972
33

Optical Genome Mapping as a Next-Generation Cytogenomic Tool for Detection of Structural and Copy Number Variations for Prenatal Genomic Analyses.
Nikhil Shri Sahajpal, Hayk Barseghyan, Ravindra Kolhe, Alex Hastie, Alka Chaubey. Genes (Basel) 2021
6
33

NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Maureen S Mulhern, Constance Stumpel, Nicholas Stong, Han G Brunner, Louise Bier, Natalie Lippa, James Riviello, Rob P W Rouhl, Marlies Kempers, Rolph Pfundt,[...]. Ann Neurol 2018
18
33

Analysis of gene mutations in PKD1/PKD2 by multiplex ligation-dependent probe amplification: some new findings.
Guopeng Yu, Xiaoqiang Qian, Yu Wu, Xinjuan Li, Jianhua Chen, Jianfeng Xu, Jun Qi. Ren Fail 2015
3
33


The emotional effects of genetic diseases: implications for clinical genetics.
Marion McAllister, Linda Davies, Katherine Payne, Stuart Nicholls, Dian Donnai, Rhona MacLeod. Am J Med Genet A 2007
45
33


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.