A citation-based method for searching scientific literature

Ben Johnson, Gillian C Lowe, Jane Futterer, Marie Lordkipanidzé, David MacDonald, Michael A Simpson, Isabel Sanchez-Guiú, Sian Drake, Danai Bem, Vincenzo Leo, Sarah J Fletcher, Ban Dawood, José Rivera, David Allsup, Tina Biss, Paula Hb Bolton-Maggs, Peter Collins, Nicola Curry, Charlotte Grimley, Beki James, Mike Makris, Jayashree Motwani, Sue Pavord, Katherine Talks, Jecko Thachil, Jonathan Wilde, Mike Williams, Paul Harrison, Paul Gissen, Stuart Mundell, Andrew Mumford, Martina E Daly, Steve P Watson, Neil V Morgan. Haematologica 2016
Times Cited: 70







List of co-cited articles
685 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
35

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.
Ilenia Simeoni, Jonathan C Stephens, Fengyuan Hu, Sri V V Deevi, Karyn Megy, Tadbir K Bariana, Claire Lentaigne, Sol Schulman, Suthesh Sivapalaratnam, Minka J A Vries,[...]. Blood 2016
110
34

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
José M Bastida, María L Lozano, Rocío Benito, Kamila Janusz, Verónica Palma-Barqueros, Mónica Del Rey, Jesús M Hernández-Sánchez, Susana Riesco, Nuria Bermejo, Hermenegildo González-García,[...]. Haematologica 2018
58
39

A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
Ian M Morison, Elisabeth M Cramer Bordé, Emma J Cheesman, Pak Leng Cheong, Andrew J Holyoake, Serge Fichelson, Robert J Weeks, Alexandra Lo, Stefan M K Davies, Sigurd M Wilbanks,[...]. Nat Genet 2008
115
28

Inherited platelet disorders: toward DNA-based diagnosis.
Claire Lentaigne, Kathleen Freson, Michael A Laffan, Ernest Turro, Willem H Ouwehand. Blood 2016
79
25

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.
Sarah J Fletcher, Ben Johnson, Gillian C Lowe, Danai Bem, Sian Drake, Marie Lordkipanidzé, Isabel Sánchez Guiú, Ban Dawood, José Rivera, Michael A Simpson,[...]. J Clin Invest 2015
41
39

Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly.
Shinji Kunishima, Ryoji Kobayashi, Tomohiko J Itoh, Motohiro Hamaguchi, Hidehiko Saito. Blood 2009
99
22

ACTN1 mutations cause congenital macrothrombocytopenia.
Shinji Kunishima, Yusuke Okuno, Kenichi Yoshida, Yuichi Shiraishi, Masashi Sanada, Hideki Muramatsu, Kenichi Chiba, Hiroko Tanaka, Koji Miyazaki, Michio Sakai,[...]. Am J Hum Genet 2013
128
22


Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.
Eva Leinøe, Eva Zetterberg, Savvas Kinalis, Olga Østrup, Peter Kampmann, Eva Norström, Nadine Andersson, Jenny Klintman, Klaus Qvortrup, Finn Cilius Nielsen,[...]. Br J Haematol 2017
33
45

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.
Sarah K Westbury, Ernest Turro, Daniel Greene, Claire Lentaigne, Anne M Kelly, Tadbir K Bariana, Ilenia Simeoni, Xavier Pillois, Antony Attwood, Steve Austin,[...]. Genome Med 2015
79
20

Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics.
Daniela De Rocco, Cristina Cerqua, Paola Goffrini, Giovanna Russo, Annalisa Pastore, Francesca Meloni, Elena Nicchia, Carlos T Moraes, Alessandro Pecci, Leonardo Salviati,[...]. Biochim Biophys Acta 2014
43
30

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Simon Stritt, Paquita Nurden, Ernest Turro, Daniel Greene, Sjoert B Jansen, Sarah K Westbury, Romina Petersen, William J Astle, Sandrine Marlin, Tadbir K Bariana,[...]. Blood 2016
75
18

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
Alessandro Pecci, Catherine Klersy, Paolo Gresele, Kieran J D Lee, Daniela De Rocco, Valeria Bozzi, Giovanna Russo, Paula G Heller, Giuseppe Loffredo, Matthias Ballmaier,[...]. Hum Mutat 2014
106
17

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders.
Patrizia Noris, Ginevra Biino, Alessandro Pecci, Elisa Civaschi, Anna Savoia, Marco Seri, Federica Melazzini, Giuseppe Loffredo, Giovanna Russo, Valeria Bozzi,[...]. Blood 2014
67
17

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
Kate Downes, Karyn Megy, Daniel Duarte, Minka Vries, Johanna Gebhart, Stefanie Hofer, Olga Shamardina, Sri V V Deevi, Jonathan Stephens, Rutendo Mapeta,[...]. Blood 2019
52
23

Enhancing the peroxidase activity of cytochrome c by mutation of residue 41: implications for the peroxidase mechanism and cytochrome c release.
Tracy M Josephs, Ian M Morison, Catherine L Day, Sigurd M Wilbanks, Elizabeth C Ledgerwood. Biochem J 2014
29
37

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
Ernest Turro, Daniel Greene, Anouck Wijgaerts, Chantal Thys, Claire Lentaigne, Tadbir K Bariana, Sarah K Westbury, Anne M Kelly, Dominik Selleslag, Jonathan C Stephens,[...]. Sci Transl Med 2016
53
20

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
Cornelis A Albers, Dirk S Paul, Harald Schulze, Kathleen Freson, Jonathan C Stephens, Peter A Smethurst, Jennifer D Jolley, Ana Cvejic, Myrto Kostadima, Paul Bertone,[...]. Nat Genet 2012
251
15

Increased dynamics in the 40-57 Ω-loop of the G41S variant of human cytochrome c promote its pro-apoptotic conformation.
Andreas Ioannis Karsisiotis, Oliver M Deacon, Michael T Wilson, Colin Macdonald, Tharin M A Blumenschein, Geoffrey R Moore, Jonathan A R Worrall. Sci Rep 2016
32
34

Hereditary thrombocytopenias: a growing list of disorders.
Patrizia Noris, Alessandro Pecci. Hematology Am Soc Hematol Educ Program 2017
45
24

A dominant-negative GFI1B mutation in the gray platelet syndrome.
Davide Monteferrario, Nikhita A Bolar, Anna E Marneth, Konnie M Hebeda, Saskia M Bergevoet, Hans Veenstra, Britta A P Laros-van Gorkom, Marius A MacKenzie, Cyrus Khandanpour, Lacramiora Botezatu,[...]. N Engl J Med 2014
97
14

Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.
V C Leo, N V Morgan, D Bem, M L Jones, G C Lowe, M Lordkipanidzé, S Drake, M A Simpson, P Gissen, A Mumford,[...]. J Thromb Haemost 2015
41
24

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
14


Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia.
Irina Pleines, Joanne Woods, Stephane Chappaz, Verity Kew, Nicola Foad, José Ballester-Beltrán, Katja Aurbach, Chiara Lincetto, Rachael M Lane, Galina Schevzov,[...]. J Clin Invest 2017
31
32

TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia.
Shinji Kunishima, Satoshi Nishimura, Hidenori Suzuki, Masue Imaizumi, Hidehiko Saito. Eur J Haematol 2014
39
25

The proapoptotic G41S mutation to human cytochrome c alters the heme electronic structure and increases the electron self-exchange rate.
Matthew D Liptak, Robert D Fagerlund, Elizabeth C Ledgerwood, Sigurd M Wilbanks, Kara L Bren. J Am Chem Soc 2011
38
23

Cooperative omega loops in cytochrome c: role in folding and function.
Mallela M G Krishna, Yan Lin, Jon N Rumbley, S Walter Englander. J Mol Biol 2003
110
12

Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey.
P Gresele, P Harrison, L Bury, E Falcinelli, C Gachet, C P Hayward, D Kenny, D Mezzano, A D Mumford, D Nugent,[...]. J Thromb Haemost 2014
92
12

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
Patrizia Noris, Silverio Perrotta, Marco Seri, Alessandro Pecci, Chiara Gnan, Giuseppe Loffredo, Nuria Pujol-Moix, Marco Zecca, Francesca Scognamiglio, Daniela De Rocco,[...]. Blood 2011
157
12

ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders.
F Rodeghiero, A Tosetto, T Abshire, D M Arnold, B Coller, P James, C Neunert, D Lillicrap. J Thromb Haemost 2010
357
12

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.
Jacqueline Stockley, Neil V Morgan, Danai Bem, Gillian C Lowe, Marie Lordkipanidzé, Ban Dawood, Michael A Simpson, Kirsty Macfarlane, Kevin Horner, Vincenzo C Leo,[...]. Blood 2013
73
12

Structure of a mitochondrial cytochrome c conformer competent for peroxidase activity.
Levi J McClelland, Tung-Chung Mou, Margaret E Jeakins-Cooley, Stephen R Sprang, Bruce E Bowler. Proc Natl Acad Sci U S A 2014
68
13

The hydrogen-peroxide-induced radical behaviour in human cytochrome c-phospholipid complexes: implications for the enhanced pro-apoptotic activity of the G41S mutant.
Badri S Rajagopal, Ann N Edzuma, Michael A Hough, Katie L I M Blundell, Valerian E Kagan, Alexandr A Kapralov, Lewis A Fraser, Julea N Butt, Gary G Silkstone, Michael T Wilson,[...]. Biochem J 2013
61
14

Cytochrome c acts as a cardiolipin oxygenase required for release of proapoptotic factors.
Valerian E Kagan, Vladimir A Tyurin, Jianfei Jiang, Yulia Y Tyurina, Vladimir B Ritov, Andrew A Amoscato, Anatoly N Osipov, Natalia A Belikova, Alexandr A Kapralov, Vidisha Kini,[...]. Nat Chem Biol 2005
814
12

Diagnosis of inherited bleeding disorders in the genomic era.
Suthesh Sivapalaratnam, Janine Collins, Keith Gomez. Br J Haematol 2017
28
32

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.
Leila Noetzli, Richard W Lo, Alisa B Lee-Sherick, Michael Callaghan, Patrizia Noris, Anna Savoia, Madhvi Rajpurkar, Kenneth Jones, Katherine Gowan, Carlo Balduini,[...]. Nat Genet 2015
153
12

Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia.
C Levin, A Koren, E Pretorius, N Rosenberg, B Shenkman, H Hauschner, L Zalman, M Khayat, I Salama, O Elpeleg,[...]. J Thromb Haemost 2015
27
33

A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene.
Vladimir T Manchev, Morgane Hilpert, Eliane Berrou, Ziane Elaib, Achille Aouba, Siham Boukour, Sylvie Souquere, Gerard Pierron, Philippe Rameau, Robert Andrews,[...]. Blood 2014
40
22

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.
Paquita Nurden, Najet Debili, Isabelle Coupry, Marijke Bryckaert, Ibtissam Youlyouz-Marfak, Guilhem Solé, Anne-Cécile Pons, Eliane Berrou, Frédéric Adam, Alexandre Kauskot,[...]. Blood 2011
100
12

Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg(2+) homeostasis and cytoskeletal architecture.
Simon Stritt, Paquita Nurden, Remi Favier, Marie Favier, Silvia Ferioli, Sanjeev K Gotru, Judith M M van Eeuwijk, Harald Schulze, Alan T Nurden, Michele P Lambert,[...]. Nat Commun 2016
52
17

Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.
Walter H A Kahr, Fred G Pluthero, Abdul Elkadri, Neil Warner, Marko Drobac, Chang Hua Chen, Richard W Lo, Ling Li, Ren Li, Qi Li,[...]. Nat Commun 2017
95
12

Mutation in GNE is associated with severe congenital thrombocytopenia.
Jane Futterer, Amanda Dalby, Gillian C Lowe, Ben Johnson, Michael A Simpson, Jayashree Motwani, Mike Williams, Steve P Watson, Neil V Morgan. Blood 2018
22
40

The incredible journey: From megakaryocyte development to platelet formation.
Kellie R Machlus, Joseph E Italiano. J Cell Biol 2013
308
11

A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO.
Paula H B Bolton-Maggs, Elizabeth A Chalmers, Peter W Collins, Paul Harrison, Stephen Kitchen, Ri J Liesner, Adrian Minford, Andrew D Mumford, Liakat A Parapia, David J Perry,[...]. Br J Haematol 2006
195
11

Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
W J Song, M G Sullivan, R D Legare, S Hutchings, X Tan, D Kufrin, J Ratajczak, I C Resende, C Haworth, R Hock,[...]. Nat Genet 1999
779
11

Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.
Veronique Latger-Cannard, Christophe Philippe, Alexandre Bouquet, Veronique Baccini, Marie-Christine Alessi, Annick Ankri, Anne Bauters, Sophie Bayart, Pascale Cornillet-Lefebvre, Sylvie Daliphard,[...]. Orphanet J Rare Dis 2016
51
15

Conformational change and human cytochrome c function: mutation of residue 41 modulates caspase activation and destabilizes Met-80 coordination.
Tracy M Josephs, Matthew D Liptak, Gillian Hughes, Alexandra Lo, Rebecca M Smith, Sigurd M Wilbanks, Kara L Bren, Elizabeth C Ledgerwood. J Biol Inorg Chem 2013
31
25

Spectrum of the mutations in Bernard-Soulier syndrome.
Anna Savoia, Shinji Kunishima, Daniela De Rocco, Barbara Zieger, Margaret L Rand, Nuria Pujol-Moix, Umran Caliskan, Huseyin Tokgoz, Alessandro Pecci, Patrizia Noris,[...]. Hum Mutat 2014
71
11


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.