A citation-based method for searching scientific literature

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, Martijn H Breuning, Najet Debili, Panos Deloukas, Rémi Favier, Janine Fiedler, Catherine M Hobbs, Ni Huang, Matthew E Hurles, Graham Kiddle, Ingrid Krapels, Paquita Nurden, Claudia A L Ruivenkamp, Jennifer G Sambrook, Kenneth Smith, Derek L Stemple, Gabriele Strauss, Chantal Thys, Chris van Geet, Ruth Newbury-Ecob, Willem H Ouwehand, Cedric Ghevaert. Nat Genet 2012
Times Cited: 247







List of co-cited articles
761 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
19

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
17

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
N Wu, X Ming, J Xiao, Z Wu, X Chen, M Shinawi, Y Shen, G Yu, J Liu, H Xie,[...]. N Engl J Med 2015
145
15

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
Eva Klopocki, Harald Schulze, Gabriele Strauss, Claus-Eric Ott, Judith Hall, Fabienne Trotier, Silke Fleischhauer, Lynn Greenhalgh, Ruth A Newbury-Ecob, Luitgard M Neumann,[...]. Am J Hum Genet 2007
197
15

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Heather C Mefford, Andrew J Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv K Maloney, John A Crolla, Diana Baralle,[...]. N Engl J Med 2008
513
12

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

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.
Francine P Favaro, Lucas Alvizi, Roseli M Zechi-Ceide, Debora Bertola, Temis M Felix, Josiane de Souza, Salmo Raskin, Stephen R F Twigg, Andrea M J Weiner, Pablo Armas,[...]. Am J Hum Genet 2014
54
20

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
Jill A Rosenfeld, Ryan N Traylor, G Bradley Schaefer, Elizabeth W McPherson, Blake C Ballif, Eva Klopocki, Stefan Mundlos, Lisa G Shaffer, Arthur S Aylsworth. Eur J Hum Genet 2012
61
18

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
150
10

Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.
Tetsuya Niihori, Meri Ouchi-Uchiyama, Yoji Sasahara, Takashi Kaneko, Yoshiko Hashii, Masahiro Irie, Atsushi Sato, Yuka Saito-Nanjo, Ryo Funayama, Takeshi Nagashima,[...]. Am J Hum Genet 2015
37
27

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
10

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
Ben Johnson, Gillian C Lowe, Jane Futterer, Marie Lordkipanidzé, David MacDonald, Michael A Simpson, Isabel Sanchez-Guiú, Sian Drake, Danai Bem, Vincenzo Leo,[...]. Haematologica 2016
68
14

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
72
13

Inherited platelet disorders: toward DNA-based diagnosis.
Claire Lentaigne, Kathleen Freson, Michael A Laffan, Ernest Turro, Willem H Ouwehand. Blood 2016
79
12

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Nicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, John Belmont, Carlos A Bacino, Trilochan Sahoo, Seema R Lalani, Brett Graham, Brendan Lee, Marwan Shinawi,[...]. Nat Genet 2008
387
10

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
127
9

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

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
156
8

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
19

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
96
8

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
20

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.
Cornelis A Albers, Ana Cvejic, Rémi Favier, Evelien E Bouwmans, Marie-Christine Alessi, Paul Bertone, Gregory Jordan, Ross N W Kettleborough, Graham Kiddle, Myrto Kostadima,[...]. Nat Genet 2011
169
8


Thrombocytopenia-absent radius syndrome: a clinical genetic study.
K L Greenhalgh, R T Howell, A Bottani, P J Ancliff, H G Brunner, C C Verschuuren-Bemelmans, E Vernon, K W Brown, R A Newbury-Ecob. J Med Genet 2002
93
8

Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly.
Hanqian Mao, Louis-Jan Pilaz, John J McMahon, Christelle Golzio, Danwei Wu, Lei Shi, Nicholas Katsanis, Debra L Silver. J Neurosci 2015
46
17

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Santhosh Girirajan, Jill A Rosenfeld, Bradley P Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A Filipink, Juliann S McConnell, Brad Angle, Wendy S Meschino,[...]. N Engl J Med 2012
350
8

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Dagmar Wieczorek, William G Newman, Thomas Wieland, Tea Berulava, Maria Kaffe, Daniela Falkenstein, Christian Beetz, Elisabeth Graf, Thomas Schwarzmayr, Sofia Douzgou,[...]. Am J Hum Genet 2014
44
18

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
56
14

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
777
8

Haploinsufficiency for Core Exon Junction Complex Components Disrupts Embryonic Neurogenesis and Causes p53-Mediated Microcephaly.
Hanqian Mao, John J McMahon, Yi-Hsuan Tsai, Zefeng Wang, Debra L Silver. PLoS Genet 2016
43
18

New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
Cornelis A Albers, Ruth Newbury-Ecob, Willem H Ouwehand, Cedric Ghevaert. Curr Opin Genet Dev 2013
39
17

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
98
7

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome.
Walter H A Kahr, Jesse Hinckley, Ling Li, Hansjörg Schwertz, Hilary Christensen, Jesse W Rowley, Fred G Pluthero, Denisa Urban, Shay Fabbro, Brie Nixon,[...]. Nat Genet 2011
149
7

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
8

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
17

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
7

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein,[...]. Am J Hum Genet 2010
7

A critical role of RBM8a in proliferation and differentiation of embryonic neural progenitors.
Donghua Zou, Colleen McSweeney, Aswathy Sebastian, Derrick James Reynolds, Fengping Dong, Yijing Zhou, Dazhi Deng, Yonggang Wang, Long Liu, Jun Zhu,[...]. Neural Dev 2015
25
28

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
98
6

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.
Patrizia Noris, Nicole Schlegel, Catherine Klersy, Paula G Heller, Elisa Civaschi, Nuria Pujol-Moix, Fabrizio Fabris, Remi Favier, Paolo Gresele, Véronique Latger-Cannard,[...]. Haematologica 2014
43
13

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
26
23

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
114
6

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
103
6


GFI1B mutation causes a bleeding disorder with abnormal platelet function.
W S Stevenson, M-C Morel-Kopp, Q Chen, H P Liang, C J Bromhead, S Wright, R Turakulov, A P Ng, A W Roberts, M Bahlo,[...]. J Thromb Haemost 2013
66
9

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
193
6

The exon junction complex component Magoh controls brain size by regulating neural stem cell division.
Debra L Silver, Dawn E Watkins-Chow, Karisa C Schreck, Tarran J Pierfelice, Denise M Larson, Anthony J Burnetti, Hung-Jiun Liaw, Kyungjae Myung, Christopher A Walsh, Nicholas Gaiano,[...]. Nat Neurosci 2010
110
6

Transcriptome-wide modulation of splicing by the exon junction complex.
Zhen Wang, Valentine Murigneux, Hervé Le Hir. Genome Biol 2014
53
11

The cellular EJC interactome reveals higher-order mRNP structure and an EJC-SR protein nexus.
Guramrit Singh, Alper Kucukural, Can Cenik, John D Leszyk, Scott A Shaffer, Zhiping Weng, Melissa J Moore. Cell 2012
206
6

Large recurrent microdeletions associated with schizophrenia.
Hreinn Stefansson, Dan Rujescu, Sven Cichon, Olli P H Pietiläinen, Andres Ingason, Stacy Steinberg, Ragnheidur Fossdal, Engilbert Sigurdsson, Thordur Sigmundsson, Jacobine E Buizer-Voskamp,[...]. Nature 2008
6


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.