A citation-based method for searching scientific literature

Daniel Danis, Julius O B Jacobsen, Leigh C Carmody, Michael A Gargano, Julie A McMurry, Ayushi Hegde, Melissa A Haendel, Giorgio Valentini, Damian Smedley, Peter N Robinson. Am J Hum Genet 2021
Times Cited: 1







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



Times Cited
  Times     Co-cited
Similarity


The Kipoi repository accelerates community exchange and reuse of predictive models for genomics.
Žiga Avsec, Roman Kreuzhuber, Johnny Israeli, Nancy Xu, Jun Cheng, Avanti Shrikumar, Abhimanyu Banerjee, Daniel S Kim, Thorsten Beier, Lara Urban,[...]. Nat Biotechnol 2019
45
100

Integrative analysis of 111 reference human epigenomes.
Anshul Kundaje, Wouter Meuleman, Jason Ernst, Misha Bilenky, Angela Yen, Alireza Heravi-Moussavi, Pouya Kheradpour, Zhizhuo Zhang, Jianrong Wang, Michael J Ziller,[...]. Nature 2015
100

VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.
Peter J Freeman, Reece K Hart, Liam J Gretton, Anthony J Brookes, Raymond Dalgleish. Hum Mutat 2018
47
100

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
819
100

Annotating pathogenic non-coding variants in genic regions.
Sahar Gelfman, Quanli Wang, K Melodi McSweeney, Zhong Ren, Francesca La Carpia, Matt Halvorsen, Kelly Schoch, Fanni Ratzon, Erin L Heinzen, Michael J Boland,[...]. Nat Commun 2017
59
100


CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores.
Philipp Rentzsch, Max Schubach, Jay Shendure, Martin Kircher. Genome Med 2021
21
100

S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing.
Karthik A Jagadeesh, Joseph M Paggi, James S Ye, Peter D Stenson, David N Cooper, Jonathan A Bernstein, Gill Bejerano. Nat Genet 2019
24
100

Rapid generation of splicing reporters with pSpliceExpress.
Shivendra Kishore, Amit Khanna, Stefan Stamm. Gene 2008
42
100

Annotating high-impact 5'untranslated region variants with the UTRannotator.
Xiaolei Zhang, Matthew Wakeling, James Ware, Nicola Whiffin. Bioinformatics 2021
5
100

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
Hui Y Xiong, Babak Alipanahi, Leo J Lee, Hannes Bretschneider, Daniele Merico, Ryan K C Yuen, Yimin Hua, Serge Gueroussov, Hamed S Najafabadi, Timothy R Hughes,[...]. Science 2015
559
100

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
100


Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
Anneke I den Hollander, Robert K Koenekoop, Suzanne Yzer, Irma Lopez, Maarten L Arends, Krysta E J Voesenek, Marijke N Zonneveld, Tim M Strom, Thomas Meitinger, Han G Brunner,[...]. Am J Hum Genet 2006
441
100

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
100

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk.
Stephane E Castel, Alejandra Cervera, Pejman Mohammadi, François Aguet, Ferran Reverter, Aaron Wolman, Roderic Guigo, Ivan Iossifov, Ana Vasileva, Tuuli Lappalainen. Nat Genet 2018
78
100

De novo mutations in regulatory elements in neurodevelopmental disorders.
Patrick J Short, Jeremy F McRae, Giuseppe Gallone, Alejandro Sifrim, Hyejung Won, Daniel H Geschwind, Caroline F Wright, Helen V Firth, David R FitzPatrick, Jeffrey C Barrett,[...]. Nature 2018
104
100

Splicing mutations in inherited retinal diseases.
Nicole Weisschuh, Elena Buena-Atienza, Bernd Wissinger. Prog Retin Eye Res 2021
7
100

Transcript expression-aware annotation improves rare variant interpretation.
Beryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, Eleanor G Seaby, Nicholas A Watts, Moriel Singer-Berk, Jonathan M Mudge, Juha Karjalainen, F Kyle Satterstrom, Anne H O'Donnell-Luria,[...]. Nature 2020
39
100

Molecular findings from 537 individuals with inherited retinal disease.
Jamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, James O'Sullivan, Simon G Williams, Janine A Lamb, Binay Panda, Panagiotis I Sergouniotis, Rachel L Gillespie, Stephen P Daiger,[...]. J Med Genet 2016
85
100


Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, Esmee H Runhart, Miriam Bauwens, Nathalie M Bax, L Ingeborgh van den Born, Muhammad Imran Khan, Stéphanie S Cornelis, Joke B G M Verheij,[...]. Genet Med 2019
65
100

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Anjali Vig, James A Poulter, Daniele Ottaviani, Erika Tavares, Katerina Toropova, Anna Maria Tracewska, Antonio Mollica, Jasmine Kang, Oshini Kehelwathugoda, Tara Paton,[...]. Genet Med 2020
15
100

MMSplice: modular modeling improves the predictions of genetic variant effects on splicing.
Jun Cheng, Thi Yen Duong Nguyen, Kamil J Cygan, Muhammed Hasan Çelik, William G Fairbrother, Žiga Avsec, Julien Gagneur. Genome Biol 2019
39
100

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms.
Come Raczy, Roman Petrovski, Christopher T Saunders, Ilya Chorny, Semyon Kruglyak, Elliott H Margulies, Han-Yu Chuang, Morten Källberg, Swathi A Kumar, Arnold Liao,[...]. Bioinformatics 2013
171
100


Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.
Melissa Lee, Patrick Roos, Neeraj Sharma, Melis Atalar, Taylor A Evans, Matthew J Pellicore, Emily Davis, Anh-Thu N Lam, Susan E Stanley, Sara E Khalil,[...]. Am J Hum Genet 2017
41
100

Pre-mRNA splicing and human disease.
Nuno André Faustino, Thomas A Cooper. Genes Dev 2003
902
100

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
Jamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, Simon G Williams, Panagiotis I Sergouniotis, James O'Sullivan, Janine A Lamb, Rahat Perveen, Georgina Hall, William G Newman,[...]. Ophthalmology 2016
64
100

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications.
Xiaoyu Chen, Ole Schulz-Trieglaff, Richard Shaw, Bret Barnes, Felix Schlesinger, Morten Källberg, Anthony J Cox, Semyon Kruglyak, Christopher T Saunders. Bioinformatics 2016
528
100

A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.
D Gareth R Evans, Elke M van Veen, Helen J Byers, Andrew J Wallace, Jamie M Ellingford, Glenda Beaman, Javier Santoyo-Lopez, Timothy J Aitman, Diana M Eccles, Fiona I Lalloo,[...]. Am J Hum Genet 2018
37
100

High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.
Kristy Lee, Jonathan S Berg, Laura Milko, Kristy Crooks, Mei Lu, Chris Bizon, Phillips Owen, Kirk C Wilhelmsen, Karen E Weck, James P Evans,[...]. Am J Ophthalmol 2015
19
100

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
100

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Htoo A Wai, Jenny Lord, Matthew Lyon, Adam Gunning, Hugh Kelly, Penelope Cibin, Eleanor G Seaby, Kerry Spiers-Fitzgerald, Jed Lye, Sian Ellard,[...]. Genet Med 2020
25
100

Personalized diagnosis and management of congenital cataract by next-generation sequencing.
Rachel L Gillespie, James O'Sullivan, Jane Ashworth, Sanjeev Bhaskar, Simon Williams, Susmito Biswas, Elias Kehdi, Simon C Ramsden, Jill Clayton-Smith, Graeme C Black,[...]. Ophthalmology 2014
95
100

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

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
100


Canvas: versatile and scalable detection of copy number variants.
Eric Roller, Sergii Ivakhno, Steve Lee, Thomas Royce, Stephen Tanner. Bioinformatics 2016
66
100

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS.
Clare Turnbull, Richard H Scott, Ellen Thomas, Louise Jones, Nirupa Murugaesu, Freya Boardman Pretty, Dina Halai, Emma Baple, Clare Craig, Angela Hamblin,[...]. BMJ 2018
176
100

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.
Sean V Tavtigian, Marc S Greenblatt, Steven M Harrison, Robert L Nussbaum, Snehit A Prabhu, Kenneth M Boucher, Leslie G Biesecker. Genet Med 2018
118
100

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
100


Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer.
Gemma Montalban, Sandra Bonache, Alejandro Moles-Fernández, Alexandra Gisbert-Beamud, Anna Tenés, Vanessa Bach, Estela Carrasco, Adrià López-Fernández, Neda Stjepanovic, Judith Balmaña,[...]. J Med Genet 2019
11
100

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.
Michael Krawczak, Nick S T Thomas, Bernd Hundrieser, Matthew Mort, Michael Wittig, Jochen Hampe, David N Cooper. Hum Mutat 2007
253
100

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd, Mubeen Khan, Françoise Sadler, Irina Balikova, Caroline Van Cauwenbergh,[...]. Genet Med 2019
45
100


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.