A citation-based method for searching scientific literature

Hemanth Tummala, Amanda J Walne, Mike Williams, Nicholas Bockett, Laura Collopy, Shirleny Cardoso, Alicia Ellison, Rob Wynn, Thierry Leblanc, Jude Fitzgibbon, David P Kelsell, David A van Heel, Elspeth Payne, Vincent Plagnol, Inderjeet Dokal, Tom Vulliamy. Am J Hum Genet 2016
Times Cited: 50







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



Times Cited
  Times     Co-cited
Similarity


Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.
Santhosh Dhanraj, Anna Matveev, Hongbing Li, Supanun Lauhasurayotin, Lawrence Jardine, Michaela Cada, Bozana Zlateska, Chetankumar S Tailor, Joseph Zhou, Roberto Mendoza-Londono,[...]. Blood 2017
69
70

Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome.
Polina Stepensky, Montserrat Chacón-Flores, Katherine H Kim, Omar Abuzaitoun, Arnulfo Bautista-Santos, Natalia Simanovsky, Dritan Siliqi, Davide Altamura, Alfonso Méndez-Godoy, Abril Gijsbers,[...]. J Med Genet 2017
66
62

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.
Andrew J Finch, Christine Hilcenko, Nicolas Basse, Lesley F Drynan, Beatriz Goyenechea, Tobias F Menne, Africa González Fernández, Paul Simpson, Clive S D'Santos, Mark J Arends,[...]. Genes Dev 2011
184
54

Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Graeme R B Boocock, Jodi A Morrison, Maja Popovic, Nicole Richards, Lynda Ellis, Peter R Durie, Johanna M Rommens. Nat Genet 2003
481
54

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
Raphael Carapito, Martina Konantz, Catherine Paillard, Zhichao Miao, Angélique Pichot, Magalie S Leduc, Yaping Yang, Katie L Bergstrom, Donald H Mahoney, Deborah L Shardy,[...]. J Clin Invest 2017
80
46

Mechanism of eIF6 release from the nascent 60S ribosomal subunit.
Félix Weis, Emmanuel Giudice, Mark Churcher, Li Jin, Christine Hilcenko, Chi C Wong, David Traynor, Robert R Kay, Alan J Warren. Nat Struct Mol Biol 2015
110
34

The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast.
Tobias F Menne, Beatriz Goyenechea, Nuria Sánchez-Puig, Chi C Wong, Louise M Tonkin, Philip J Ancliff, Renée L Brost, Michael Costanzo, Charles Boone, Alan J Warren. Nat Genet 2007
227
32

Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.
Kasiani C Myers, Audrey Anna Bolyard, Barbara Otto, Trisha E Wong, Amanda T Jones, Richard E Harris, Stella M Davies, David C Dale, Akiko Shimamura. J Pediatr 2014
83
28

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.
Yigal Dror, Jean Donadieu, Jutta Koglmeier, John Dodge, Sanna Toiviainen-Salo, Outi Makitie, Elizabeth Kerr, Cornelia Zeidler, Akiko Shimamura, Neil Shah,[...]. Ann N Y Acad Sci 2011
110
26


Defective ribosome assembly in Shwachman-Diamond syndrome.
Chi C Wong, David Traynor, Nicolas Basse, Robert R Kay, Alan J Warren. Blood 2011
105
24

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome.
Jean Donadieu, Odile Fenneteau, Blandine Beaupain, Sandrine Beaufils, Florence Bellanger, Nizar Mahlaoui, Anne Lambilliotte, Nathalie Aladjidi, Yves Bertrand, Valérie Mialou,[...]. Haematologica 2012
78
24

A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
Olivier Bluteau, Marie Sebert, Thierry Leblanc, Régis Peffault de Latour, Samuel Quentin, Elodie Lainey, Lucie Hernandez, Jean-Hugues Dalle, Flore Sicre de Fontbrune, Etienne Lengline,[...]. Blood 2018
135
22

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.
Christine Bellanné-Chantelot, Barbara Schmaltz-Panneau, Caroline Marty, Odile Fenneteau, Isabelle Callebaut, Séverine Clauin, Aurélie Docet, Gandhi-Laurent Damaj, Thierry Leblanc, Isabelle Pellier,[...]. Blood 2018
56
22

THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.
H SHWACHMAN, L K DIAMOND, F A OSKI, K T KHAW. J Pediatr 1964
371
20

Refining the phenotype associated with biallelic DNAJC21 mutations.
G D'Amours, F Lopes, J Gauthier, V Saillour, C Nassif, R Wynn, N Alos, T Leblanc, Y Capri, S Nizard,[...]. Clin Genet 2018
20
50

Ribosomal biogenesis genes play an essential and p53-independent role in zebrafish pancreas development.
Elayne Provost, Karen A Wehner, Xiangang Zhong, Foram Ashar, Elizabeth Nguyen, Rachel Green, Michael J Parsons, Steven D Leach. Development 2012
54
18

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Johannes G Dauwerse, Jill Dixon, Saskia Seland, Claudia A L Ruivenkamp, Arie van Haeringen, Lies H Hoefsloot, Dorien J M Peters, Agnes Clement-de Boers, Cornelia Daumer-Haas, Robert Maiwald,[...]. Nat Genet 2011
202
18

Ribosomopathies: how a common root can cause a tree of pathologies.
Nadia Danilova, Hanna T Gazda. Dis Model Mech 2015
107
16

Defining the pathway of cytoplasmic maturation of the 60S ribosomal subunit.
Kai-Yin Lo, Zhihua Li, Cyril Bussiere, Stefan Bresson, Edward M Marcotte, Arlen W Johnson. Mol Cell 2010
137
16

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome.
Karyn M Austin, Mohan L Gupta, Scott A Coats, Asmin Tulpule, Gustavo Mostoslavsky, Alejandro B Balazs, Richard C Mulligan, George Daley, David Pellman, Akiko Shimamura. J Clin Invest 2008
88
16

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
N Draptchinskaia, P Gustavsson, B Andersson, M Pettersson, T N Willig, I Dianzani, S Ball, G Tchernia, J Klar, H Matsson,[...]. Nat Genet 1999
610
16

Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation.
R Coleman Lindsley, Wael Saber, Brenton G Mar, Robert Redd, Tao Wang, Michael D Haagenson, Peter V Grauman, Zhen-Huan Hu, Stephen R Spellman, Stephanie J Lee,[...]. N Engl J Med 2017
363
16

Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.
Heather L Ball, Bing Zhang, J Jacob Riches, Rikesh Gandhi, Jing Li, Johanna M Rommens, Jeremy S Myers. Hum Mol Genet 2009
44
18

Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis.
Rajiv K Khajuria, Mathias Munschauer, Jacob C Ulirsch, Claudia Fiorini, Leif S Ludwig, Sean K McFarland, Nour J Abdulhay, Harrison Specht, Hasmik Keshishian, D R Mani,[...]. Cell 2018
173
16

Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.
Queenie K-G Tan, Heidi Cope, Rebecca C Spillmann, Nicholas Stong, Yong-Hui Jiang, Marie T McDonald, Jennifer A Rothman, Megan W Butler, Donald P Frush, Ralph S Lachman,[...]. Cold Spring Harb Mol Case Stud 2018
15
53

Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules.
Marina E Tourlakis, Jian Zhong, Rikesh Gandhi, Siyi Zhang, Lingling Chen, Peter R Durie, Johanna M Rommens. Gastroenterology 2012
29
24

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
Karen W Gripp, Cynthia Curry, Ann Haskins Olney, Claudio Sandoval, Jamie Fisher, Jessica Xiao-Ling Chong, Lisa Pilchman, Rebecca Sahraoui, Deborah L Stabley, Katia Sol-Church. Am J Med Genet A 2014
82
14

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.
Alexandre Bolze, Nizar Mahlaoui, Minji Byun, Bridget Turner, Nikolaus Trede, Steven R Ellis, Avinash Abhyankar, Yuval Itan, Etienne Patin, Samuel Brebner,[...]. Science 2013
124
14

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen.
Benjamin L Ebert, Jennifer Pretz, Jocelyn Bosco, Cindy Y Chang, Pablo Tamayo, Naomi Galili, Azra Raza, David E Root, Eyal Attar, Steven R Ellis,[...]. Nature 2008
649
14

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.
M Ridanpää, H van Eenennaam, K Pelin, R Chadwick, C Johnson, B Yuan, W vanVenrooij, G Pruijn, R Salmela, S Rockas,[...]. Cell 2001
312
14

A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.
Nahuel A Paolini, Martin Attwood, Samuel B Sondalle, Carolina Marques Dos Santos Vieira, Anita M van Adrichem, Franca M di Summa, Marie-Françoise O'Donohue, Pierre-Emmanuel Gleizes, Swaksha Rachuri, Joseph W Briggs,[...]. Am J Hum Genet 2017
47
14

Ribosomopathies: There's strength in numbers.
Eric W Mills, Rachel Green. Science 2017
201
14

Impaired ribosomal subunit association in Shwachman-Diamond syndrome.
Nicholas Burwick, Scott A Coats, Tomoka Nakamura, Akiko Shimamura. Blood 2012
50
12

The cytosolic J-protein, Jjj1, and Rei1 function in the removal of the pre-60 S subunit factor Arx1.
Alison E Meyer, Lindsey A Hoover, Elizabeth A Craig. J Biol Chem 2010
41
14

An overview of pre-ribosomal RNA processing in eukaryotes.
Anthony K Henras, Célia Plisson-Chastang, Marie-Françoise O'Donohue, Anirban Chakraborty, Pierre-Emmanuel Gleizes. Wiley Interdiscip Rev RNA 2015
314
12

Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.
Camille Shammas, Tobias F Menne, Christine Hilcenko, Stephen R Michell, Beatriz Goyenechea, Graeme R B Boocock, Peter R Durie, Johanna M Rommens, Alan J Warren. J Biol Chem 2005
86
12

Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar.
H Ginzberg, J Shin, L Ellis, J Morrison, W Ip, Y Dror, M Freedman, L A Heitlinger, M A Belt, M Corey,[...]. J Pediatr 1999
149
12

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.
Vijay G Sankaran, Roxanne Ghazvinian, Ron Do, Prathapan Thiru, Jo-Anne Vergilio, Alan H Beggs, Colin A Sieff, Stuart H Orkin, David G Nathan, Eric S Lander,[...]. J Clin Invest 2012
225
12

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.
N S Heiss, S W Knight, T J Vulliamy, S M Klauck, S Wiemann, P J Mason, A Poustka, I Dokal. Nat Genet 1998
648
12

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.
Michael Landowski, Marie-Françoise O'Donohue, Christopher Buros, Roxanne Ghazvinian, Nathalie Montel-Lehry, Adrianna Vlachos, Colin A Sieff, Peter E Newburger, Edyta Niewiadomska, Michal Matysiak,[...]. Hum Genet 2013
78
12

BMS1 is mutated in aplasia cutis congenita.
Alexander G Marneros. PLoS Genet 2013
29
20

SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention.
Piera Calamita, Annarita Miluzio, Arianna Russo, Elisa Pesce, Sara Ricciardi, Farhat Khanim, Cristina Cheroni, Roberta Alfieri, Marilena Mancino, Chiara Gorrini,[...]. PLoS Genet 2017
24
25

Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality.
Siyi Zhang, Mingjun Shi, Chi-Chung Hui, Johanna M Rommens. Mol Cell Biol 2006
77
12

In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.
Marina E Tourlakis, Siyi Zhang, Heather L Ball, Rikesh Gandhi, Hongrui Liu, Jian Zhong, Julie S Yuan, Cynthia J Guidos, Peter R Durie, Johanna M Rommens. PLoS Genet 2015
25
24

Mesenchymal Inflammation Drives Genotoxic Stress in Hematopoietic Stem Cells and Predicts Disease Evolution in Human Pre-leukemia.
Noemi A Zambetti, Zhen Ping, Si Chen, Keane J G Kenswil, Maria A Mylona, Mathijs A Sanders, Remco M Hoogenboezem, Eric M J Bindels, Maria N Adisty, Paulina M H Van Strien,[...]. Cell Stem Cell 2016
195
12

A congenital neutrophil defect syndrome associated with mutations in VPS45.
Thierry Vilboux, Atar Lev, May Christine V Malicdan, Amos J Simon, Päivi Järvinen, Tomas Racek, Jacek Puchalka, Raman Sood, Blake Carrington, Kevin Bishop,[...]. N Engl J Med 2013
80
12

Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.
Natalie C Jones, Megan L Lynn, Karin Gaudenz, Daisuke Sakai, Kazushi Aoto, Jean-Phillipe Rey, Earl F Glynn, Lacey Ellington, Chunying Du, Jill Dixon,[...]. Nat Med 2008
294
12

Altered translation of GATA1 in Diamond-Blackfan anemia.
Leif S Ludwig, Hanna T Gazda, Jennifer C Eng, Stephen W Eichhorn, Prathapan Thiru, Roxanne Ghazvinian, Tracy I George, Jason R Gotlib, Alan H Beggs, Colin A Sieff,[...]. Nat Med 2014
180
12

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
12


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.