A citation-based method for searching scientific literature

Samya Chakravorty, Madhuri Hegde. Hum Mutat 2018
Times Cited: 13







List of co-cited articles
71 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
23

How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.
David Salgado, Matthew I Bellgard, Jean-Pierre Desvignes, Christophe Béroud. Hum Mutat 2016
22
23

Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies.
Samya Chakravorty, Madhuri Hegde. Annu Rev Genomics Hum Genet 2017
20
23

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
Richard J L F Lemmers, Rabi Tawil, Lisa M Petek, Judit Balog, Gregory J Block, Gijs W E Santen, Amanda M Amell, Patrick J van der Vliet, Rowida Almomani, Kirsten R Straasheijm,[...]. Nat Genet 2012
349
15

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.
Jaakko Sarparanta, Per Harald Jonson, Christelle Golzio, Satu Sandell, Helena Luque, Mark Screen, Kristin McDonald, Jeffrey M Stajich, Ibrahim Mahjneh, Anna Vihola,[...]. Nat Genet 2012
159
15

Conformational dynamics is key to understanding loss-of-function of NQO1 cancer-associated polymorphisms and its correction by pharmacological ligands.
Encarnación Medina-Carmona, Rogelio J Palomino-Morales, Julian E Fuchs, Esperanza Padín-Gonzalez, Noel Mesa-Torres, Eduardo Salido, David J Timson, Angel L Pey. Sci Rep 2016
27
15

The yin-yang of kinase activation and unfolding explains the peculiarity of Val600 in the activation segment of BRAF.
Christina Kiel, Hannah Benisty, Veronica Lloréns-Rico, Luis Serrano. Elife 2016
17
15

Intrinsically disordered segments affect protein half-life in the cell and during evolution.
Robin van der Lee, Benjamin Lang, Kai Kruse, Jörg Gsponer, Natalia Sánchez de Groot, Martijn A Huynen, Andreas Matouschek, Monika Fuxreiter, M Madan Babu. Cell Rep 2014
118
15

The stability effects of protein mutations appear to be universally distributed.
Nobuhiko Tokuriki, Francois Stricher, Joost Schymkowitz, Luis Serrano, Dan S Tawfik. J Mol Biol 2007
257
15

A Universal Pattern in the Percolation and Dissipation of Protein Structural Perturbations.
Nandakumar Rajasekaran, Ashok Sekhar, Athi N Naganathan. J Phys Chem Lett 2017
27
15

Disruption of the DT diaphorase (NQO1) gene in mice leads to increased menadione toxicity.
V Radjendirane, P Joseph, Y H Lee, S Kimura, A J Klein-Szanto, F J Gonzalez, A K Jaiswal. J Biol Chem 1998
208
15

Protein activity regulation by conformational entropy.
Shiou-Ru Tzeng, Charalampos G Kalodimos. Nature 2012
323
15


Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency.
Laurent R Chiarelli, Simone M Morera, Paola Bianchi, Elisa Fermo, Alberto Zanella, Alessandro Galizzi, Giovanna Valentini. PLoS One 2012
39
15

Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations.
Sofie V Nielsen, Amelie Stein, Alexander B Dinitzen, Elena Papaleo, Michael H Tatham, Esben G Poulsen, Maher M Kassem, Lene J Rasmussen, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen. PLoS Genet 2017
44
15

A General Mechanism for the Propagation of Mutational Effects in Proteins.
Nandakumar Rajasekaran, Swaathiratna Suresh, Soundhararajan Gopi, Karthik Raman, Athi N Naganathan. Biochemistry 2017
37
15

Rapid polyubiquitination and proteasomal degradation of a mutant form of NAD(P)H:quinone oxidoreductase 1.
D Siegel, A Anwar, S L Winski, J K Kepa, K L Zolman, D Ross. Mol Pharmacol 2001
175
15

Natural Small Molecules as Stabilizers and Activators of Cancer-Associated NQO1 Polymorphisms.
Angel L Pey, Clare F Megarity, Encarnación Medina-Carmona, David J Timson. Curr Drug Targets 2016
19
15

Structural and energetic basis of protein kinetic destabilization in human phosphoglycerate kinase 1 deficiency.
Angel L Pey, Noel Mesa-Torres, Laurent R Chiarelli, Giovanna Valentini. Biochemistry 2013
18
15

Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria.
Fredj ben Bdira, Esperanza González, Paula Pluta, Ana Laín, Arantza Sanz-Parra, Juan Manuel Falcon-Perez, Oscar Millet. Hum Mol Genet 2014
15
15






Functional Sites Induce Long-Range Evolutionary Constraints in Enzymes.
Benjamin R Jack, Austin G Meyer, Julian Echave, Claus O Wilke. PLoS Biol 2016
54
15

Mutational effects and the evolution of new protein functions.
Misha Soskine, Dan S Tawfik. Nat Rev Genet 2010
249
15

Collapse of the native structure caused by a single amino acid exchange in human NAD(P)H:quinone oxidoreductase(1.).
Wolf-Dieter Lienhart, Venugopal Gudipati, Michael K Uhl, Alexandra Binter, Sergio A Pulido, Robert Saf, Klaus Zangger, Karl Gruber, Peter Macheroux. FEBS J 2014
40
15

Evolutionary Divergent Suppressor Mutations in Conformational Diseases.
Noel Mesa-Torres, Isabel Betancor-Fernández, Elisa Oppici, Barbara Cellini, Eduardo Salido, Angel L Pey. Genes (Basel) 2018
9
22

The FoldX web server: an online force field.
Joost Schymkowitz, Jesper Borg, Francois Stricher, Robby Nys, Frederic Rousseau, Luis Serrano. Nucleic Acids Res 2005
15

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
15

Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.
Elisa Oppici, Sonia Fargue, Emma S Reid, Philippa B Mills, Peter T Clayton, Christopher J Danpure, Barbara Cellini. Hum Mol Genet 2015
31
15

In vivo aspects of protein folding and quality control.
David Balchin, Manajit Hayer-Hartl, F Ulrich Hartl. Science 2016
589
15

Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
Thomas J McCorvie, Jolanta Kopec, Angel L Pey, Fiona Fitzpatrick, Dipali Patel, Rod Chalk, Leela Shrestha, Wyatt W Yue. Hum Mol Genet 2016
28
15

Site-to-site interdomain communication may mediate different loss-of-function mechanisms in a cancer-associated NQO1 polymorphism.
Encarnación Medina-Carmona, Jose L Neira, Eduardo Salido, Julian E Fuchs, Rogelio Palomino-Morales, David J Timson, Angel L Pey. Sci Rep 2017
23
15


Protein Misfolding Diseases.
F Ulrich Hartl. Annu Rev Biochem 2017
160
15

VarAFT: a variant annotation and filtration system for human next generation sequencing data.
Jean-Pierre Desvignes, Marc Bartoli, Valérie Delague, Martin Krahn, Morgane Miltgen, Christophe Béroud, David Salgado. Nucleic Acids Res 2018
62
15

Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.
Heidi Erlandsen, Angel L Pey, Alejandra Gámez, Belén Pérez, Lourdes R Desviat, Cristina Aguado, Richard Koch, Sankar Surendran, Stephen Tyring, Reuben Matalon,[...]. Proc Natl Acad Sci U S A 2004
133
15

The crystal structure of NAD(P)H quinone oxidoreductase 1 in complex with its potent inhibitor dicoumarol.
Gad Asher, Orly Dym, Peter Tsvetkov, Julia Adler, Yosef Shaul. Biochemistry 2006
99
15

Repositioning tolcapone as a potent inhibitor of transthyretin amyloidogenesis and associated cellular toxicity.
Ricardo Sant'Anna, Pablo Gallego, Lei Z Robinson, Alda Pereira-Henriques, Nelson Ferreira, Francisca Pinheiro, Sebastian Esperante, Irantzu Pallares, Oscar Huertas, Maria Rosário Almeida,[...]. Nat Commun 2016
89
15

Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.
Jean-Marc Blouin, Ganeko Bernardo-Seisdedos, Emma Sasso, Julie Esteve, Cécile Ged, Magalie Lalanne, Arantza Sanz-Parra, Pedro Urquiza, Hubert de Verneuil, Oscar Millet,[...]. Hum Mol Genet 2017
19
15


Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.
Angel L Pey, Belén Pérez, Lourdes R Desviat, Maria Angeles Martínez, Cristina Aguado, Heidi Erlandsen, Alejandra Gámez, Raymond C Stevens, Matthías Thórólfsson, Magdalena Ugarte,[...]. Hum Mutat 2004
97
15

Genetic basis of limb-girdle muscular dystrophies: the 2014 update.
Vincenzo Nigro, Marco Savarese. Acta Myol 2014
164
15

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
J Liu, M Aoki, I Illa, C Wu, M Fardeau, C Angelini, C Serrano, J A Urtizberea, F Hentati, M B Hamida,[...]. Nat Genet 1998
647
15

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
John Vissing, Rita Barresi, Nanna Witting, Marijke Van Ghelue, Lise Gammelgaard, Laurence A Bindoff, Volker Straub, Hanns Lochmüller, Judith Hudson, Christoph M Wahl,[...]. Brain 2016
50
15

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
Hemakumar M Reddy, Kyung-Ah Cho, Monkol Lek, Elicia Estrella, Elise Valkanas, Michael D Jones, Satomi Mitsuhashi, Basil T Darras, Anthony A Amato, Hart Gw Lidov,[...]. J Hum Genet 2017
42
15

Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis.
Rashna Sam Dastur, Pradnya Satish Gaitonde, Munira Kachwala, Babi R R Nallamilli, Arunkanth Ankala, Satish V Khadilkar, Nalini Atchayaram, N Gayathri, A K Meena, Laura Rufibach,[...]. Ann Indian Acad Neurol 2017
4
50

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.
Eduard Gallardo, Noemi de Luna, Jordi Diaz-Manera, Ricardo Rojas-García, Lidia Gonzalez-Quereda, Bàrbara Flix, Antoine de Morrée, Silvère van der Maarel, Isabel Illa. PLoS One 2011
33
15


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.