A citation-based method for searching scientific literature

Isabel Fernandez, Natalie Patey, Valérie Marchand, Mirela Birlea, Bruno Maranda, Elie Haddad, Hélène Decaluwe, Françoise Le Deist. Medicine (Baltimore) 2014
Times Cited: 20







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



Times Cited
  Times     Co-cited
Similarity


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
60

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
60

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
60

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
Mark E Samuels, Jacek Majewski, Najmeh Alirezaie, Isabel Fernandez, Ferran Casals, Natalie Patey, Hélène Decaluwe, Isabelle Gosselin, Elie Haddad, Alan Hodgkinson,[...]. J Med Genet 2013
68
55

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
50

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
52

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
36

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
58

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
35

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
55

Multiple intestinal atresia with combined immune deficiency.
Luigi D Notarangelo. Curr Opin Pediatr 2014
10
50

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
26

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
20

The complex surgical management of the first case of severe combined immunodeficiency and multiple intestinal atresias surviving after the fourth year of life.
Riccardo Guanà, Salvatore Garofano, Elisabetta Teruzzi, Simona Vinardi, Giulia Carbonaro, Alessia Cerrina, Isabella Morra, Davide Montin, Alessandro Mussa, Jürgen Schleef. Pediatr Gastroenterol Hepatol Nutr 2014
8
50

Novel Mutations of the Tetratricopeptide Repeat Domain 7A Gene and Phenotype/Genotype Comparison.
Reyin Lien, Yung-Feng Lin, Min-Wei Lai, Hui-Ying Weng, Ren-Chin Wu, Tang-Her Jaing, Jing-Long Huang, Shih-Feng Tsai, Wen-I Lee. Front Immunol 2017
16
25

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
20

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
15

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
15

Intestinal atresia and stenosis: a 25-year experience with 277 cases.
L K Dalla Vecchia, J L Grosfeld, K W West, F J Rescorla, L R Scherer, S A Engum. Arch Surg 1998
232
15


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
15


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
15

IBD and IBD mimicking enterocolitis in children younger than 2 years of age.
Z Cannioto, I Berti, S Martelossi, I Bruno, N Giurici, S Crovella, A Ventura. Eur J Pediatr 2009
73
15

Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.
Alexandre Fabre, Christine Martinez-Vinson, Bertrand Roquelaure, Chantal Missirian, Nicolas André, Anne Breton, Alain Lachaux, Egritas Odul, Virginie Colomb, Julie Lemale,[...]. Hum Mutat 2011
33
15

Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy.
Dylan Lawless, Anoop Mistry, Philip M Wood, Jens Stahlschmidt, Gururaj Arumugakani, Mark Hull, David Parry, Rashida Anwar, Clive Carter, Sinisa Savic. J Clin Immunol 2017
7
42

Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.
João Farela Neves, Isabel Afonso, Luis Borrego, Catarina Martins, Ana Isabel Cordeiro, Conceição Neves, Caroline Lacoste, Catherine Badens, Alexandre Fabre. Eur J Med Genet 2018
7
42

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Asbjørg Stray-Pedersen, Paul H Backe, Hanne S Sorte, Lars Mørkrid, Niti Y Chokshi, Hans Christian Erichsen, Tomasz Gambin, Katja B P Elgstøen, Magnar Bjørås, Marcin W Wlodarski,[...]. Am J Hum Genet 2014
100
10

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency.
Carrie L Lucas, Hye Sun Kuehn, Fang Zhao, Julie E Niemela, Elissa K Deenick, Umaimainthan Palendira, Danielle T Avery, Leen Moens, Jennifer L Cannons, Matthew Biancalana,[...]. Nat Immunol 2014
377
10

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.
Desirée Schubert, Claudia Bode, Rupert Kenefeck, Tie Zheng Hou, James B Wing, Alan Kennedy, Alla Bulashevska, Britt-Sabina Petersen, Alejandro A Schäffer, Björn A Grüning,[...]. Nat Med 2014
464
10

Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.
Carrie L Lucas, Yu Zhang, Anthony Venida, Ying Wang, Jason Hughes, Joshua McElwee, Morgan Butrick, Helen Matthews, Susan Price, Matthew Biancalana,[...]. J Exp Med 2014
153
10

Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.
Emma M Haapaniemi, Meri Kaustio, Hanna L M Rajala, Arjan J van Adrichem, Leena Kainulainen, Virpi Glumoff, Rainer Doffinger, Heikki Kuusanmäki, Tarja Heiskanen-Kosma, Luca Trotta,[...]. Blood 2015
157
10

Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity.
Juan Manuel Torres, Rubén Martinez-Barricarte, Sonia García-Gómez, Marina S Mazariegos, Yuval Itan, Bertrand Boisson, Rita Rholvarez, Anaïs Jiménez-Reinoso, Lucia del Pino, Rebeca Rodríguez-Pena,[...]. J Clin Invest 2014
60
10

A human immunodeficiency caused by mutations in the PIK3R1 gene.
Marie-Céline Deau, Lucie Heurtier, Pierre Frange, Felipe Suarez, Christine Bole-Feysot, Patrick Nitschke, Marina Cavazzana, Capucine Picard, Anne Durandy, Alain Fischer,[...]. J Clin Invest 2014
146
10

The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency.
Stuart E Turvey, Anne Durandy, Alain Fischer, Shan-Yu Fung, Raif S Geha, Andreas Gewies, Thomas Giese, Johann Greil, Bärbel Keller, Margaret L McKinnon,[...]. J Allergy Clin Immunol 2014
80
10

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.
Michael A Spinner, Lauren A Sanchez, Amy P Hsu, Pamela A Shaw, Christa S Zerbe, Katherine R Calvo, Diane C Arthur, Wenjuan Gu, Christine M Gould, Carmen C Brewer,[...]. Blood 2014
378
10

Congenital B cell lymphocytosis explained by novel germline CARD11 mutations.
Andrew L Snow, Wenming Xiao, Jeffrey R Stinson, Wei Lu, Benjamin Chaigne-Delalande, Lixin Zheng, Stefania Pittaluga, Helen F Matthews, Roland Schmitz, Sameer Jhavar,[...]. J Exp Med 2012
106
10

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.
Joshua D Milner, Tiphanie P Vogel, Lisa Forbes, Chi A Ma, Asbjørg Stray-Pedersen, Julie E Niemela, Jonathan J Lyons, Karin R Engelhardt, Yu Zhang, Nermina Topcagic,[...]. Blood 2015
291
10

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.
Atfa Sassi, Sandra Lazaroski, Gang Wu, Stuart M Haslam, Manfred Fliegauf, Fethi Mellouli, Turkan Patiroglu, Ekrem Unal, Mehmet Akif Ozdemir, Zineb Jouhadi,[...]. J Allergy Clin Immunol 2014
107
10

The evolution of cellular deficiency in GATA2 mutation.
Rachel E Dickinson, Paul Milne, Laura Jardine, Sasan Zandi, Sabina I Swierczek, Naomi McGovern, Sharon Cookson, Zaveyna Ferozepurwalla, Alexander Langridge, Sarah Pagan,[...]. Blood 2014
137
10

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
Luyan Liu, Satoshi Okada, Xiao-Fei Kong, Alexandra Y Kreins, Sophie Cypowyj, Avinash Abhyankar, Julie Toubiana, Yuval Itan, Magali Audry, Patrick Nitschke,[...]. J Exp Med 2011
495
10

Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency.
Johann Greil, Tobias Rausch, Thomas Giese, Obul R Bandapalli, Volker Daniel, Isabelle Bekeredjian-Ding, Adrian M Stütz, Christoph Drees, Susanne Roth, Jürgen Ruland,[...]. J Allergy Clin Immunol 2013
87
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

A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency.
Haifa H Jabara, Toshiro Ohsumi, Janet Chou, Michel J Massaad, Halli Benson, Andre Megarbane, Eliane Chouery, Raymond Mikhael, Oliver Gorka, Andreas Gewies,[...]. J Allergy Clin Immunol 2013
88
10

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
Sarah E Flanagan, Emma Haapaniemi, Mark A Russell, Richard Caswell, Hana Lango Allen, Elisa De Franco, Timothy J McDonald, Hanna Rajala, Anita Ramelius, John Barton,[...]. Nat Genet 2014
291
10

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.
Hye Sun Kuehn, Weiming Ouyang, Bernice Lo, Elissa K Deenick, Julie E Niemela, Danielle T Avery, Jean-Nicolas Schickel, Dat Q Tran, Jennifer Stoddard, Yu Zhang,[...]. Science 2014
490
10

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.
Ivan Angulo, Oscar Vadas, Fabien Garçon, Edward Banham-Hall, Vincent Plagnol, Timothy R Leahy, Helen Baxendale, Tanya Coulter, James Curtis, Changxin Wu,[...]. Science 2013
360
10

Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.
Yoshiyuki Minegishi, Masako Saito, Shigeru Tsuchiya, Ikuya Tsuge, Hidetoshi Takada, Toshiro Hara, Nobuaki Kawamura, Tadashi Ariga, Srdjan Pasic, Oliver Stojkovic,[...]. Nature 2007
679
10

Fetal duodenal obstructions: increased risk of prenatal sudden death.
A Brantberg, H-G K Blaas, K A Salvesen, S E Haugen, G Møllerløkken, S H Eik-Nes. Ultrasound Obstet Gynecol 2002
20
10


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.