A citation-based method for searching scientific literature

Sasha Jardine, Neel Dhingani, Aleixo M Muise. Cell Mol Gastroenterol Hepatol 2019
Times Cited: 28







List of co-cited articles
138 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
128
46

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
118
42

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
29
35

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
76
35

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
91
28

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
22
36

Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency.
Sasha Jardine, Sierra Anderson, Stephen Babcock, Gabriella Leung, Jie Pan, Neel Dhingani, Neil Warner, Conghui Guo, Iram Siddiqui, Daniel Kotlarz,[...]. Gastroenterology 2020
20
40

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
367
25

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
25

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
45
25

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
960
21

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
71
21

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.
Charline Miot, Kohsuke Imai, Chihaya Imai, Anthony J Mancini, Zeynep Yesim Kucuk, Tokomki Kawai, Ryuta Nishikomori, Etsuro Ito, Isabelle Pellier, Sophie Dupuis Girod,[...]. Blood 2017
51
17

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
22
22

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
11
45

Advances in Evaluation of Chronic Diarrhea in Infants.
Jay R Thiagarajah, Daniel S Kamin, Sari Acra, Jeffrey D Goldsmith, Joseph T Roland, Wayne I Lencer, Aleixo M Muise, James R Goldenring, Yaron Avitzur, Martín G Martín. Gastroenterology 2018
76
17

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
Katrina M de Lange, Loukas Moutsianas, James C Lee, Christopher A Lamb, Yang Luo, Nicholas A Kennedy, Luke Jostins, Daniel L Rice, Javier Gutierrez-Achury, Sun-Gou Ji,[...]. Nat Genet 2017
497
14

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
20
20

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
12
33

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study.
Fabienne Charbit-Henrion, Marianna Parlato, Sylvain Hanein, Rémi Duclaux-Loras, Jan Nowak, Bernadette Begue, Sabine Rakotobe, Julie Bruneau, Cécile Fourrage, Olivier Alibeu,[...]. J Crohns Colitis 2018
46
14

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
Jimmy Z Liu, Suzanne van Sommeren, Hailiang Huang, Siew C Ng, Rudi Alberts, Atsushi Takahashi, Stephan Ripke, James C Lee, Luke Jostins, Tejas Shah,[...]. Nat Genet 2015
14

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
16
25

Architecture of the human PI4KIIIα lipid kinase complex.
Joshua A Lees, Yixiao Zhang, Michael S Oh, Curtis M Schauder, Xiaoling Yu, Jeremy M Baskin, Kerry Dobbs, Luigi D Notarangelo, Pietro De Camilli, Thomas Walz,[...]. Proc Natl Acad Sci U S A 2017
37
14

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
10
40

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
25
16

Probing the Architecture, Dynamics, and Inhibition of the PI4KIIIα/TTC7/FAM126 Complex.
Gillian L Dornan, Udit Dalwadi, David J Hamelin, Reece M Hoffmann, Calvin K Yip, John E Burke. J Mol Biol 2018
15
26

Evaluation of phosphatidylinositol-4-kinase IIIα as a hepatitis C virus drug target.
Frédéric H Vaillancourt, Martine Brault, Louise Pilote, Nathalie Uyttersprot, Elias T Gaillard, James H Stoltz, Brian L Knight, Lynn Pantages, Mary McFarland, Steffen Breitfelder,[...]. J Virol 2012
50
10

Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing.
James J Ashton, Gaia Andreoletti, Tracy Coelho, Rachel Haggarty, Akshay Batra, Nadeem A Afzal, R Mark Beattie, Sarah Ennis. Inflamm Bowel Dis 2016
28
10

Novel Exonic Deletions in TTC7A in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency.
Jessica R Saunders, Anna Lehman, Stuart E Turvey, Jie Pan, Evica Rajcan-Separovic, Aleixo M Muise, Jonathan W Bush. J Clin Immunol 2019
3
100

Clinical Genomics in Inflammatory Bowel Disease.
Holm H Uhlig, Aleixo M Muise. Trends Genet 2017
57
10

Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia.
Abdul Elkadri, Cornelia Thoeni, Sophie J Deharvengt, Ryan Murchie, Conghui Guo, James D Stavropoulos, Christian R Marshall, Paul Wales, Robert Bandsma, Ernest Cutz,[...]. Cell Mol Gastroenterol Hepatol 2015
28
10

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.
Andreas R Janecke, Peter Heinz-Erian, Jianyi Yin, Britt-Sabina Petersen, Andre Franke, Silvia Lechner, Irene Fuchs, Serge Melancon, Holm H Uhlig, Simon Travis,[...]. Hum Mol Genet 2015
81
10

Dysgenesis of enteroendocrine cells in Aristaless-Related Homeobox polyalanine expansion mutations.
Natalie A Terry, Randall A Lee, Erik R Walp, Klaus H Kaestner, Catherine Lee May. J Pediatr Gastroenterol Nutr 2015
7
42

Mutant neurogenin-3 in congenital malabsorptive diarrhea.
Jiafang Wang, Galen Cortina, S Vincent Wu, Robert Tran, Jang-Hyeon Cho, Ming-Jer Tsai, Travis J Bailey, Milan Jamrich, Marvin E Ament, William R Treem,[...]. N Engl J Med 2006
210
10

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.
Eleonora Gambineri, Sara Ciullini Mannurita, David Hagin, Marina Vignoli, Stephanie Anover-Sombke, Stacey DeBoer, Gesmar R S Segundo, Eric J Allenspach, Claudio Favre, Hans D Ochs,[...]. Front Immunol 2018
91
10

Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations.
Polina Stepensky, Jack Bartram, Thomas F Barth, Kai Lehmberg, Paul Walther, Kerstin Amann, Alan D Philips, Ortraud Beringer, Udo Zur Stadt, Ansgar Schulz,[...]. Pediatr Blood Cancer 2013
47
10

Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort.
Martín G Martín, Iris Lindberg, R Sergio Solorzano-Vargas, Jiafang Wang, Yaron Avitzur, Robert Bandsma, Christiane Sokollik, Sarah Lawrence, Lindsay A Pickett, Zijun Chen,[...]. Gastroenterology 2013
90
10

Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
Julie Salomon, Olivier Goulet, Danielle Canioni, Nicole Brousse, Julie Lemale, Patrick Tounian, Aurore Coulomb, Evelyne Marinier, Jean-Pierre Hugot, Frank Ruemmele,[...]. Hum Genet 2014
57
10

Fine-mapping inflammatory bowel disease loci to single-variant resolution.
Hailiang Huang, Ming Fang, Luke Jostins, Maša Umićević Mirkov, Gabrielle Boucher, Carl A Anderson, Vibeke Andersen, Isabelle Cleynen, Adrian Cortes, François Crins,[...]. Nature 2017
274
10

Inherited p40phox deficiency differs from classic chronic granulomatous disease.
Annemarie van de Geer, Alejandro Nieto-Patlán, Douglas B Kuhns, Anton Tj Tool, Andrés A Arias, Matthieu Bouaziz, Martin de Boer, José Luis Franco, Roel P Gazendam, John L van Hamme,[...]. J Clin Invest 2018
59
10

Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.
Jochen Kammermeier, Suzanne Drury, Chela T James, Robert Dziubak, Louise Ocaka, Mamoun Elawad, Philip Beales, Nicholas Lench, Holm H Uhlig, Chiara Bacchelli,[...]. J Med Genet 2014
66
10

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.
Tobias Schwerd, Sumeet Pandey, Huei-Ting Yang, Katrin Bagola, Elisabeth Jameson, Jonathan Jung, Robin H Lachmann, Neil Shah, Smita Y Patel, Claire Booth,[...]. Gut 2017
97
10

A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease.
Y Ogura, D K Bonen, N Inohara, D L Nicolae, F F Chen, R Ramos, H Britton, T Moran, R Karaliuskas, R H Duerr,[...]. Nature 2001
10

SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase.
Lasse Holt-Danborg, Julia Vodopiutz, Annika W Nonboe, Jan De Laffolie, Signe Skovbjerg, Victorien M Wolters, Thomas Müller, Benjamin Hetzer, Alexander Querfurt, Klaus-Peter Zimmer,[...]. Hum Mol Genet 2019
16
18

IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.
Yukihide Momozawa, Julia Dmitrieva, Emilie Théâtre, Valérie Deffontaine, Souad Rahmouni, Benoît Charloteaux, François Crins, Elisa Docampo, Mahmoud Elansary, Ann-Stephan Gori,[...]. Nat Commun 2018
97
10

PI4KIIIα is required for cortical integrity and cell polarity during Drosophila oogenesis.
Julie Tan, Karen Oh, Jason Burgess, David R Hipfner, Julie A Brill. J Cell Sci 2014
32
10

Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.
Eileen Crowley, Neil Warner, Jie Pan, Sam Khalouei, Abdul Elkadri, Karoline Fiedler, Justin Foong, Andrei L Turinsky, Dana Bronte-Tinkew, Shiqi Zhang,[...]. Gastroenterology 2020
43
10

Congenital intestinal atresias with multiple episodes of sepsis: A case report and review of literature.
Natalia Mandiá, Alejandro Pérez-Muñuzuri, Olalla López-Suárez, Carolina López-Sanguos, Adolfo Bautista-Casanovas, Mariá-Luz Couce. Medicine (Baltimore) 2018
5
60

Phosphoinositides in cell regulation and membrane dynamics.
Gilbert Di Paolo, Pietro De Camilli. Nature 2006
10

TTC7A mutation must be considered in patients with repeated intestinal atresia associated with early inflammatory bowel disease: Two new case reports and a literature review.
J Fayard, S Collardeau, Y Bertrand, M-P Cordier, C Malcus, R Dubois, P-Y Mure, G de Saint Basile, T Louazon, B Rohmer,[...]. Arch Pediatr 2018
6
50


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.