A citation-based method for searching scientific literature

Marc Pauper, Erdi Kucuk, Aaron M Wenger, Shreyasee Chakraborty, Primo Baybayan, Michael Kwint, Bart van der Sanden, Marcel R Nelen, Ronny Derks, Han G Brunner, Alexander Hoischen, Lisenka E L M Vissers, Christian Gilissen. Eur J Hum Genet 2021
Times Cited: 2







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



Times Cited
  Times     Co-cited
Similarity


Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele, Marjolein Carron, Alexander Aslanidis, Caroline Van Cauwenbergh, Anja Kathrin Mayer, Mattias Van Heetvelde, Miriam Bauwens, Hannah Verdin,[...]. Genet Med 2018
20
50

Identifying haplotypes in recessive inherited retinal dystrophies using whole-genome linked-read sequencing.
Pauliina Repo, Reetta-Stiina Järvinen, Eeva-Marja Sankila, Maarjaliis Paavo, Pekka Ellonen, Tero T Kivelä, Joni A Turunen. Clin Genet 2021
1
100

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.
Muhammad Ansar, Emmanuelle Ranza, Madhur Shetty, Sohail A Paracha, Maleeha Azam, Ilse Kern, Justyna Iwaszkiewicz, Omer Farooq, Constantin J Pournaras, Ariane Malcles,[...]. Hum Mol Genet 2020
9
50

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
50


Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.
Nikolas Pontikos, Gavin Arno, Neringa Jurkute, Elena Schiff, Rola Ba-Abbad, Samantha Malka, Ainoa Gimenez, Michalis Georgiou, Genevieve Wright, Monica Armengol,[...]. Ophthalmology 2020
43
50

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
50

Long-read sequencing to understand genome biology and cell function.
Florian Kraft, Ingo Kurth. Int J Biochem Cell Biol 2020
7
50


Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Solaf M Elsayed, Jennifer B Phillips, Raoul Heller, Michaela Thoenes, Ezzat Elsobky, Gudrun Nürnberg, Peter Nürnberg, Saskia Seland, Inga Ebermann, Janine Altmüller,[...]. Hum Mol Genet 2015
19
50

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
612
50

Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome.
I Ebermann, S M Elsayed, T Y Abdel-Ghaffar, G Nürnberg, P Nürnberg, E Elsobky, H J Bolz. Neurology 2008
7
50

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
Johannes Birtel, Martin Gliem, Elisabeth Mangold, Philipp L Müller, Frank G Holz, Christine Neuhaus, Steffen Lenzner, Diana Zahnleiter, Christian Betz, Tobias Eisenberger,[...]. PLoS One 2018
40
50

Emerging therapies for inherited retinal degeneration.
Hendrik P N Scholl, Rupert W Strauss, Mandeep S Singh, Deniz Dalkara, Botond Roska, Serge Picaud, José-Alain Sahel. Sci Transl Med 2016
113
50

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
Feng Wang, Hui Wang, Han-Fang Tuan, Duy H Nguyen, Vincent Sun, Vafa Keser, Sara J Bowne, Lori S Sullivan, Hongrong Luo, Ling Zhao,[...]. Hum Genet 2014
158
50

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
50

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
Suzanne E de Bruijn, Alessia Fiorentino, Daniele Ottaviani, Stephanie Fanucchi, Uirá S Melo, Julio C Corral-Serrano, Timo Mulders, Michalis Georgiou, Carlo Rivolta, Nikolas Pontikos,[...]. Am J Hum Genet 2020
17
50

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Jennifer E Posey, Tamar Harel, Pengfei Liu, Jill A Rosenfeld, Regis A James, Zeynep H Coban Akdemir, Magdalena Walkiewicz, Weimin Bi, Rui Xiao, Yan Ding,[...]. N Engl J Med 2017
342
50

Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR.
Jasmina Cehajic-Kapetanovic, Kanmin Xue, Cristina Martinez-Fernandez de la Camara, Anika Nanda, Alexandra Davies, Laura J Wood, Anna Paola Salvetti, M Dominik Fischer, James W Aylward, Alun R Barnard,[...]. Nat Med 2020
80
50

A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping.
Peter Charbel Issa, Martin Gliem, Imran H Yusuf, Johannes Birtel, Philipp L Müller, Elisabeth Mangold, Susan M Downes, Robert E MacLaren, Christian Betz, Hanno J Bolz. Invest Ophthalmol Vis Sci 2019
7
50

Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
Markus N Preising, Boris Görg, Christoph Friedburg, Natalia Qvartskhava, Birgit S Budde, Michele Bonus, Mohammad R Toliat, Christopher Pfleger, Janine Altmüller, Diran Herebian,[...]. FASEB J 2019
14
50

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization.
Matteo Di Scipio, Erika Tavares, Shriya Deshmukh, Isabelle Audo, Kit Green-Sanderson, Yuliya Zubak, Fayçal Zine-Eddine, Alexander Pearson, Anjali Vig, Chen Yu Tang,[...]. Invest Ophthalmol Vis Sci 2020
10
50

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Tobias Eisenberger, Christine Neuhaus, Arif O Khan, Christian Decker, Markus N Preising, Christoph Friedburg, Anika Bieg, Martin Gliem, Peter Charbel Issa, Frank G Holz,[...]. PLoS One 2013
149
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
71
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

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Xia Wang, Hui Wang, Vincent Sun, Han-Fang Tuan, Vafa Keser, Keqing Wang, Huanan Ren, Irma Lopez, Jacques E Zaneveld, Sorath Siddiqui,[...]. J Med Genet 2013
111
50

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.
Peter D Stenson, Matthew Mort, Edward V Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S Millar, Andrew D Phillips,[...]. Hum Genet 2020
63
50

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
50

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
Susanne Roosing, L Ingeborgh van den Born, Riccardo Sangermano, Sandro Banfi, Robert K Koenekoop, Marijke N Zonneveld-Vrieling, Caroline C W Klaver, Janneke J C van Lith-Verhoeven, Frans P M Cremers, Anneke I den Hollander,[...]. Ophthalmology 2015
37
50

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.
Omar Soukarieh, Pascaline Gaildrat, Mohamad Hamieh, Aurélie Drouet, Stéphanie Baert-Desurmont, Thierry Frébourg, Mario Tosi, Alexandra Martins. PLoS Genet 2016
94
50

When One Diagnosis Is Not Enough.
Kym M Boycott, A Micheil Innes. N Engl J Med 2017
16
50

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
641
50

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
50

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Mubeen Khan, Stéphanie S Cornelis, Marta Del Pozo-Valero, Laura Whelan, Esmee H Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Elfride De Baere,[...]. Genet Med 2020
32
50

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
50

Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories.
Ron Hochstenbach, Thomas Liehr, Rosalind J Hastings. Eur J Hum Genet 2021
5
50

Reflections on dynamic consent in biomedical research: the story so far.
Harriet J A Teare, Megan Prictor, Jane Kaye. Eur J Hum Genet 2021
6
50

A human case of GIMAP6 deficiency: a novel primary immune deficiency.
Bella Shadur, Nathalie Asherie, Shlomit Kfir-Erenfeld, Taly Dubnikov, Adeeb NaserEddin, Yael Dinur Schejter, Orly Elpeleg, Hagar Mor-Shaked, Polina Stepensky. Eur J Hum Genet 2021
3
50

Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome.
Amanda Brignell, Conway Gu, Alison Holm, Bronwyn Carrigg, Daisy A Sheppard, David J Amor, Angela T Morgan. Eur J Hum Genet 2021
3
50

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity.
Alexander J M Blakes, Emily Gaul, Wayne Lam, Nora Shannon, Karen M Knapp, Louise S Bicknell, Meremaihi R Jackson, Emma M Wade, Stephen Robertson, Susan M White,[...]. Eur J Hum Genet 2021
1
100

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
Meena Balasubramanian, Alexander J M Dingemans, Shadi Albaba, Ruth Richardson, Thabo M Yates, Helen Cox, Sofia Douzgou, Ruth Armstrong, Francis H Sansbury, Katherine B Burke,[...]. Eur J Hum Genet 2021
1
100

'CTRL': an online, Dynamic Consent and participant engagement platform working towards solving the complexities of consent in genomic research.
Matilda A Haas, Harriet Teare, Megan Prictor, Gabi Ceregra, Miranda E Vidgen, David Bunker, Jane Kaye, Tiffany Boughtwood. Eur J Hum Genet 2021
6
50

Whole-exome sequencing of Finnish patients with vascular cognitive impairment.
Saana Mönkäre, Liina Kuuluvainen, Celia Kun-Rodrigues, Susana Carmona, Johanna Schleutker, Jose Bras, Minna Pöyhönen, Rita Guerreiro, Liisa Myllykangas. Eur J Hum Genet 2021
1
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.