A citation-based method for searching scientific literature

Johan T den Dunnen, Raymond Dalgleish, Donna R Maglott, Reece K Hart, Marc S Greenblatt, Jean McGowan-Jordan, Anne-Francoise Roux, Timothy Smith, Stylianos E Antonarakis, Peter E M Taschner. Hum Mutat 2016
Times Cited: 746



Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth R Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang, Karen Karapetyan, Kenneth Katz, Chunlei Liu, Zenith Maddipatla, Adriana Malheiro, Kurt McDaniel, Michael Ovetsky, George Riley, George Zhou, J Bradley Holmes, Brandi L Kattman, Donna R Maglott. Nucleic Acids Res 2018
Times Cited: 1193




List of shared articles



Times cited

Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms.
Nicole Weisschuh, Valerio Marino, Karin Schäferhoff, Paul Richter, Joohyun Park, Tobias B Haack, Daniele Dell'Orco. Hum Mol Genet 2022
2

Accurate Prediction of Protein Sequences for Proteogenomics Data Integration.
Yanick Paco Hagemeijer, Victor Guryev, Peter Horvatovich. Methods Mol Biol 2022
0

TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.
Gil Ben-Cohen, Flora Doffe, Michal Devir, Bernard Leroy, Thierry Soussi, Shai Rosenberg. Brief Bioinform 2022
0

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.
Julia Foreman, Simon Brent, Daniel Perrett, Andrew P Bevan, Sarah E Hunt, Fiona Cunningham, Matthew E Hurles, Helen V Firth. Hum Mutat 2022
2

A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
Milda Reith, Lena Zeltner, Karin Schäferhoff, Dennis Witt, Theresia Zuleger, Tobias B Haack, Antje Bornemann, Michael Alber, Susanne Ruf, Ludger Schoels,[...]. Int J Mol Sci 2022
1

Sequencing of BRCA1/2-alterations using NGS-based technology: annotation as a challenge.
Silvana Ebner, Ria Winkelmann, Saskia Martin, Jens Köllermann, Peter J Wild, Melanie Demes. Oncotarget 2022
0

A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.
Juliana Acosta-Uribe, David Aguillón, J Nicholas Cochran, Margarita Giraldo, Lucía Madrigal, Bradley W Killingsworth, Rijul Singhal, Sarah Labib, Diana Alzate, Lina Velilla,[...]. Genome Med 2022
0

FlyBase: a guided tour of highlighted features.
L Sian Gramates, Julie Agapite, Helen Attrill, Brian R Calvi, Madeline A Crosby, Gilberto Dos Santos, Joshua L Goodman, Damien Goutte-Gattat, Victoria K Jenkins, Thomas Kaufman,[...]. Genetics 2022
2

Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.
Ilya G Serebriiskii, Valery Pavlov, Rossella Tricarico, Grigorii Andrianov, Emmanuelle Nicolas, Mitchell I Parker, Justin Newberg, Garrett Frampton, Joshua E Meyer, Erica A Golemis. Nat Commun 2022
1

Best practices for the interpretation and reporting of clinical whole genome sequencing.
Christina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, David Bick, Ryan J Taft, Eric Venner, Richard A Gibbs, Ted Young, Sarah Barnett, John W Belmont,[...]. NPJ Genom Med 2022
0

Principles of molecular testing for hereditary cancer.
Chloe Mighton, Jordan P Lerner-Ellis. Genes Chromosomes Cancer 2022
0

MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants.
Agnese Giovannetti, Salvatore Daniele Bianco, Alice Traversa, Noemi Panzironi, Alessandro Bruselles, Sara Lazzari, Niccolò Liorni, Marco Tartaglia, Massimo Carella, Antonio Pizzuti,[...]. Hum Mutat 2022
0

Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia.
Umut Gerlevik, Ceren Saygı, Hakan Cangül, Aslı Kutlu, Erdal Fırat Çaralan, Yasemin Topçu, Nesrin Özören, Osman Uğur Sezerman. PLoS One 2022
0

MEN4, the MEN1 mimicker; a case series of 3 phenotypically heterogenous patients with unique CDKN1B mutations.
Amanda Seabrook, Ayanthi Wijewardene, Sunita De Sousa, Tang Wong, Nisa Sheriff, Anthony J Gill, Rakesh Iyer, Michael Field, Catherine Luxford, Roderick Clifton-Bligh,[...]. J Clin Endocrinol Metab 2022
0