A citation-based method for searching scientific literature

Mark E Samuels, Jacek Majewski, Najmeh Alirezaie, Isabel Fernandez, Ferran Casals, Natalie Patey, Hélène Decaluwe, Isabelle Gosselin, Elie Haddad, Alan Hodgkinson, Youssef Idaghdour, Valerie Marchand, Jacques L Michaud, Marc-André Rodrigue, Sylvie Desjardins, Stéphane Dubois, Francoise Le Deist, Philip Awadalla, Vincent Raymond, Bruno Maranda. J Med Genet 2013
Times Cited: 68







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



Times Cited
  Times     Co-cited
Similarity


Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
Rui Chen, Silvia Giliani, Gaetana Lanzi, George I Mias, Silvia Lonardi, Kerry Dobbs, John Manis, Hogune Im, Jennifer E Gallagher, Douglas H Phanstiel,[...]. J Allergy Clin Immunol 2013
79
70

Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
Yaron Avitzur, Conghui Guo, Lucas A Mastropaolo, Ehsan Bahrami, Hannah Chen, Zhen Zhao, Abdul Elkadri, Sandeep Dhillon, Ryan Murchie, Ramzi Fattouh,[...]. Gastroenterology 2014
112
55

TTC7A mutations disrupt intestinal epithelial apicobasal polarity.
Amélie E Bigorgne, Henner F Farin, Roxane Lemoine, Nizar Mahlaoui, Nathalie Lambert, Marine Gil, Ansgar Schulz, Pierre Philippet, Patrick Schlesser, Tore G Abrahamsen,[...]. J Clin Invest 2014
99
47

Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.
Niti Sardana Agarwal, Lesley Northrop, Kwame Anyane-Yeboa, Vimla S Aggarwal, Peter L Nagy, Yesim Yilmaz Demirdag. J Clin Immunol 2014
19
89

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
Erik-Oliver Glocker, Daniel Kotlarz, Kaan Boztug, E Michael Gertz, Alejandro A Schäffer, Fatih Noyan, Mario Perro, Jana Diestelhorst, Anna Allroth, Dhaarini Murugan,[...]. N Engl J Med 2009
908
23

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.
Roxane Lemoine, Jana Pachlopnik-Schmid, Henner F Farin, Amélie Bigorgne, Marianne Debré, Fernando Sepulveda, Sébastien Héritier, Julie Lemale, Cécile Talbotec, Frédéric Rieux-Laucat,[...]. J Allergy Clin Immunol 2014
37
43

The diagnostic approach to monogenic very early onset inflammatory bowel disease.
Holm H Uhlig, Tobias Schwerd, Sibylle Koletzko, Neil Shah, Jochen Kammermeier, Abdul Elkadri, Jodie Ouahed, David C Wilson, Simon P Travis, Dan Turner,[...]. Gastroenterology 2014
326
22

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.
Elizabeth A Worthey, Alan N Mayer, Grant D Syverson, Daniel Helbling, Benedetta B Bonacci, Brennan Decker, Jaime M Serpe, Trivikram Dasu, Michael R Tschannen, Regan L Veith,[...]. Genet Med 2011
477
19


Donor immune reconstitution after liver-small bowel transplantation for multiple intestinal atresia with immunodeficiency.
Richard K Gilroy, Peter F Coccia, James E Talmadge, Lori I Hatcher, Samuel J Pirruccello, Byers W Shaw, Ronald J Rubocki, Debra L Sudan, Alan N Langnas, Simon P Horslen. Blood 2004
30
40

Infant colitis--it's in the genes.
Erik-Oliver Glocker, Natalie Frede, Mario Perro, Neil Sebire, Mamoun Elawad, Neil Shah, Bodo Grimbacher. Lancet 2010
180
17

Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy.
Daniel Kotlarz, Rita Beier, Dhaarini Murugan, Jana Diestelhorst, Ole Jensen, Kaan Boztug, Dietmar Pfeifer, Hans Kreipe, Eva-Doreen Pfister, Ulrich Baumann,[...]. Gastroenterology 2012
272
17

Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.
W Yang, P P W Lee, M-K Thong, T M Ramanujam, A Shanmugam, M-T Koh, K-W Chan, D Ying, Y Wang, J J Shen,[...]. Clin Genet 2015
17
70

Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family.
L A Moreno, F Gottrand, D Turck, S Manouvrier-Hanu, F Mazingue, C Morisot, F Le Deist, C Ricour, C Nihoul-Feketé, P Debeugny. Am J Med Genet 1990
44
25

Inflammatory skin and bowel disease linked to ADAM17 deletion.
Diana C Blaydon, Paolo Biancheri, Wei-Li Di, Vincent Plagnol, Rita M Cabral, Matthew A Brooke, David A van Heel, Franz Ruschendorf, Mark Toynbee, Amanda Walne,[...]. N Engl J Med 2011
211
16

Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.
Isabel Fernandez, Natalie Patey, Valérie Marchand, Mirela Birlea, Bruno Maranda, Elie Haddad, Hélène Decaluwe, Françoise Le Deist. Medicine (Baltimore) 2014
20
55

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency.
Abdullah Alangari, Abdulrahman Alsultan, Nouran Adly, Michel J Massaad, Iram Shakir Kiani, Abdulrahman Aljebreen, Emad Raddaoui, Abdul-Kareem Almomen, Saleh Al-Muhsen, Raif S Geha,[...]. J Allergy Clin Immunol 2012
155
14

Multiple atresias and a new syndrome of hereditary multiple atresias involving the gastrointestinal tract from stomach to rectum.
F M Guttman, P Braun, P H Garance, H Blanchard, P P Collin, L Dallaire, J G Desjardins, G Perreault. J Pediatr Surg 1973
106
13

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Luke Jostins, Stephan Ripke, Rinse K Weersma, Richard H Duerr, Dermot P McGovern, Ken Y Hui, James C Lee, L Philip Schumm, Yashoda Sharma, Carl A Anderson,[...]. Nature 2012
13

Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.
Karin R Engelhardt, Neil Shah, Intan Faizura-Yeop, Dilara F Kocacik Uygun, Natalie Frede, Aleixo M Muise, Eyal Shteyer, Serkan Filiz, Ronnie Chee, Mamoun Elawad,[...]. J Allergy Clin Immunol 2013
158
13

NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2.
Aleixo M Muise, Wei Xu, Cong-Hui Guo, Thomas D Walters, Victorien M Wolters, Ramzi Fattouh, Grace Y Lam, Pingzhao Hu, Ryan Murchie, Mary Sherlock,[...]. Gut 2012
119
13

Incidence, outcomes, and health services burden of very early onset inflammatory bowel disease.
Eric I Benchimol, David R Mack, Geoffrey C Nguyen, Scott B Snapper, Wenbin Li, Nassim Mojaverian, Pauline Quach, Aleixo M Muise. Gastroenterology 2014
140
13

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.
Gulbu Uzel, Elizabeth P Sampaio, Monica G Lawrence, Amy P Hsu, Mary Hackett, Morna J Dorsey, Richard J Noel, James W Verbsky, Alexandra F Freeman, Erin Janssen,[...]. J Allergy Clin Immunol 2013
180
13

Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.
Stavroula Woutsas, Caner Aytekin, Elisabeth Salzer, Cecilia Domínguez Conde, Sema Apaydin, Herbert Pichler, Nima Memaran-Dadgar, Ferda Ozbay Hosnut, Elisabeth Förster-Waldl, Susanne Matthes,[...]. Blood 2015
12
75

Positional cloning of the Ttc7 gene required for normal iron homeostasis and mutated in hea and fsn anemia mice.
Robert A White, Steven G McNulty, Ndona N Nsumu, Leigh A Boydston, Brandon P Brewer, Koji Shimizu. Genomics 2005
26
30

The Tetratricopeptide repeat domain 7 gene is mutated in flaky skin mice: a model for psoriasis, autoimmunity, and anemia.
Cynthia Helms, Stephen Pelsue, Li Cao, Erika Lamb, Brett Loffredo, Patricia Taillon-Miller, Brooke Herrin, Lisa M Burzenski, Bruce Gott, Bonnie L Lyons,[...]. Exp Biol Med (Maywood) 2005
22
36


Assembly of the PtdIns 4-kinase Stt4 complex at the plasma membrane requires Ypp1 and Efr3.
Dan Baird, Chris Stefan, Anjon Audhya, Sabine Weys, Scott D Emr. J Cell Biol 2008
95
11

Autoimmunity in wiskott-Aldrich syndrome: an unsolved enigma.
Marco Catucci, Maria Carmina Castiello, Francesca Pala, Marita Bosticardo, Anna Villa. Front Immunol 2012
74
11

Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.
Mary Ellen Conley, A Kerry Dobbs, Anita M Quintana, Amma Bosompem, Yong-Dong Wang, Elaine Coustan-Smith, Amber M Smith, Elena E Perez, Peter J Murray. J Exp Med 2012
138
11

Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome.
Laurence E Cheng, Bittoo Kanwar, Haig Tcheurekdjian, James P Grenert, Mica Muskat, Melvin B Heyman, Joseph M McCune, Diane W Wara. Clin Immunol 2009
48
16

Pediatric modification of the Montreal classification for inflammatory bowel disease: the Paris classification.
Arie Levine, Anne Griffiths, James Markowitz, David C Wilson, Dan Turner, Richard K Russell, John Fell, Frank M Ruemmele, Thomas Walters, Mary Sherlock,[...]. Inflamm Bowel Dis 2011
795
11

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.
Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, Bertrand Roquelaure, Egritas Odul, Ersin Sayar, Hilary Smith, Virginie Colomb, Nicolas Andre, Jean-Pierre Hugot,[...]. Am J Hum Genet 2012
87
11


Ichthyosis as the dermatological phenotype associated with TTC7A mutations.
S Leclerc-Mercier, R Lemoine, A E Bigorgne, F Sepulveda, C Leveau, A Fischer, N Mahlaoui, S Hadj-Rabia, G de Saint Basile. Br J Dermatol 2016
9
88

Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.
Jochen Kammermeier, Robert Dziubak, Matilde Pescarin, Suzanne Drury, Heather Godwin, Kate Reeve, Sibongile Chadokufa, Bonita Huggett, Sara Sider, Chela James,[...]. J Crohns Colitis 2017
68
11

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
10

Children with early-onset inflammatory bowel disease (IBD): analysis of a pediatric IBD consortium registry.
Melvin B Heyman, Barbara S Kirschner, Benjamin D Gold, George Ferry, Robert Baldassano, Stanley A Cohen, Harland S Winter, Patricia Fain, Chris King, Terry Smith,[...]. J Pediatr 2005
335
10

Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease.
Bernadette Begue, Julien Verdier, Frédéric Rieux-Laucat, Olivier Goulet, Alain Morali, Danielle Canioni, Jean-Pierre Hugot, Cécile Daussy, Virginie Verkarre, Bénédicte Pigneur,[...]. Am J Gastroenterol 2011
155
10

PtdIns4P synthesis by PI4KIIIα at the plasma membrane and its impact on plasma membrane identity.
Fubito Nakatsu, Jeremy M Baskin, Jeeyun Chung, Lukas B Tanner, Guanghou Shui, Sang Yoon Lee, Michelle Pirruccello, Mingming Hao, Nicholas T Ingolia, Markus R Wenk,[...]. J Cell Biol 2012
162
10

CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes.
Amy A Caudy, Sreelatha T Reddy, Talal Chatila, John P Atkinson, James W Verbsky. J Allergy Clin Immunol 2007
253
10

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.
Qing Zhou, Geun-Shik Lee, Jillian Brady, Shrimati Datta, Matilda Katan, Afzal Sheikh, Marta S Martins, Tom D Bunney, Brian H Santich, Susan Moir,[...]. Am J Hum Genet 2012
193
10

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia.
Siobhan O Burns, Helen L Zenner, Vincent Plagnol, James Curtis, Kin Mok, Michael Eisenhut, Dinakantha Kumararatne, Rainer Doffinger, Adrian J Thrasher, Sergey Nejentsev. J Allergy Clin Immunol 2012
68
10

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.
Gabriela Lopez-Herrera, Giacomo Tampella, Qiang Pan-Hammarström, Peer Herholz, Claudia M Trujillo-Vargas, Kanchan Phadwal, Anna Katharina Simon, Michel Moutschen, Amos Etzioni, Adi Mory,[...]. Am J Hum Genet 2012
293
10


Familial diarrhea syndrome caused by an activating GUCY2C mutation.
Torunn Fiskerstrand, Najla Arshad, Bjørn Ivar Haukanes, Rune Rose Tronstad, Khanh Do-Cong Pham, Stefan Johansson, Bjarte Håvik, Siv L Tønder, Shawn E Levy, Damien Brackman,[...]. N Engl J Med 2012
125
10

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).
Jane Louise Hartley, Nicholas C Zachos, Ban Dawood, Mark Donowitz, Julia Forman, Rodney J Pollitt, Neil V Morgan, Louise Tee, Paul Gissen, Walter H A Kahr,[...]. Gastroenterology 2010
78
10

XIAP variants in male Crohn's disease.
Yvonne Zeissig, Britt-Sabina Petersen, Snezana Milutinovic, Esther Bosse, Gabriele Mayr, Kenneth Peuker, Jelka Hartwig, Andreas Keller, Martina Kohl, Martin W Laass,[...]. Gut 2015
101
10

The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.
Jeremy M Baskin, Xudong Wu, Romain Christiano, Michael S Oh, Curtis M Schauder, Elisabetta Gazzerro, Mirko Messa, Simona Baldassari, Stefania Assereto, Roberta Biancheri,[...]. Nat Cell Biol 2016
54
12

Stem cell transplantation for tetratricopeptide repeat domain 7A deficiency: long-term follow-up.
Jochen Kammermeier, Giovanna Lucchini, Sung-Yun Pai, Austen Worth, Dyanne Rampling, Persis Amrolia, Juliana Silva, Robert Chiesa, Kanchan Rao, Gabriele Noble-Jamieson,[...]. Blood 2016
19
36


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.