A citation-based method for searching scientific literature

Andrea Kwan, M A Manning, Linda K Zollars, H Eugene Hoyme. Am J Med Genet A 2012
Times Cited: 11







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



Times Cited
  Times     Co-cited
Similarity


The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.
Christian T Thiel, Anita Rauch. Best Pract Res Clin Endocrinol Metab 2011
32
36

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.
Christian T Thiel, Geert Mortier, Ilkka Kaitila, André Reis, Anita Rauch. Am J Hum Genet 2007
55
36

Combined immunodeficiency associated with DOCK8 mutations.
Qian Zhang, Jeremiah C Davis, Ian T Lamborn, Alexandra F Freeman, Huie Jing, Amanda J Favreau, Helen F Matthews, Joie Davis, Maria L Turner, Gulbu Uzel,[...]. N Engl J Med 2009
454
36


Skin manifestations in primary immunodeficient children.
Waleed Al-Herz, Arti Nanda. Pediatr Dermatol 2011
43
36

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.
Cristina Woellner, E Michael Gertz, Alejandro A Schäffer, Macarena Lagos, Mario Perro, Erik-Oliver Glocker, Maria C Pietrogrande, Fausto Cossu, José L Franco, Nuria Matamoros,[...]. J Allergy Clin Immunol 2010
176
36

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
Waleed Al-Herz, Aziz Bousfiha, Jean-Laurent Casanova, Talal Chatila, Mary Ellen Conley, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, H Bobby Gaspar, Steven M Holland,[...]. Front Immunol 2014
296
36

Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome.
Chaim M Roifman, Yiping Gu, Amos Cohen. J Allergy Clin Immunol 2006
70
27

Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype.
Luigi D Notarangelo, Chaim M Roifman, Silvia Giliani. Curr Opin Allergy Clin Immunol 2008
34
27

Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations.
Fotini D Kavadas, Silvia Giliani, Yiping Gu, Evelina Mazzolari, Andrea Bates, Eleonora Pegoiani, Chaim M Roifman, Luigi D Notarangelo. J Allergy Clin Immunol 2008
35
27

Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.
Victoria Bordon, Andrew R Gennery, Mary A Slatter, Els Vandecruys, Genevieve Laureys, Paul Veys, Waseem Qasim, Wilhelm Friedrich, Nico M Wulfraat, Franziska Scherer,[...]. Blood 2010
35
27

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.
Michael J Ombrello, Elaine F Remmers, Guangping Sun, Alexandra F Freeman, Shrimati Datta, Parizad Torabi-Parizi, Naeha Subramanian, Tom D Bunney, Rhona W Baxendale, Marta S Martins,[...]. N Engl J Med 2012
236
27

Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency.
Agata Drewniak, Roel P Gazendam, Anton T J Tool, Michel van Houdt, Machiel H Jansen, John L van Hamme, Ester M M van Leeuwen, Dirk Roos, Emmanuel Scalais, Carine de Beaufort,[...]. Blood 2013
200
27

Cutaneous manifestations of DOCK8 deficiency syndrome.
Emily Y Chu, Alexandra F Freeman, Huie Jing, Edward W Cowen, Joie Davis, Helen C Su, Steven M Holland, Maria L Chanco Turner. Arch Dermatol 2012
83
27


Dyskeratosis congenita.
Inderjeet Dokal. Hematology Am Soc Hematol Educ Program 2011
176
27


Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.
Kerstin Felgentreff, Ruy Perez-Becker, Carsten Speckmann, Klaus Schwarz, Krzysztof Kalwak, Gasper Markelj, Tadej Avcin, Waseem Qasim, E G Davies, Tim Niehues,[...]. Clin Immunol 2011
102
27

Deep dermatophytosis and inherited CARD9 deficiency.
Fanny Lanternier, Saad Pathan, Quentin B Vincent, Luyan Liu, Sophie Cypowyj, Carolina Prando, Mélanie Migaud, Lynda Taibi, Aomar Ammar-Khodja, Omar Boudghene Stambouli,[...]. N Engl J Med 2013
212
27

ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.
Christie-Ann McCarl, Capucine Picard, Sara Khalil, Takumi Kawasaki, Jens Röther, Alexander Papolos, Jeffery Kutok, Claire Hivroz, Francoise Ledeist, Katrin Plogmann,[...]. J Allergy Clin Immunol 2009
226
27

Omenn syndrome: inflammation in leaky severe combined immunodeficiency.
Anna Villa, Luigi D Notarangelo, Chaim M Roifman. J Allergy Clin Immunol 2008
137
27

An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.
Bertrand Boisson, Chenhui Wang, Vincent Pedergnana, Ling Wu, Sophie Cypowyj, Michel Rybojad, Aziz Belkadi, Capucine Picard, Laurent Abel, Claire Fieschi,[...]. Immunity 2013
176
27

Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.
Jacinta Bustamante, Capucine Picard, Stéphanie Boisson-Dupuis, Laurent Abel, Jean-Laurent Casanova. Ann N Y Acad Sci 2011
60
27

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
310
27

Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients.
O Mäkitie, E Marttinen, I Kaitila. Pediatr Radiol 1992
24
27

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.
Maaret Ridanpää, Pertti Sistonen, Susanna Rockas, David L Rimoin, Outi Mäkitie, Ilkka Kaitila. Eur J Hum Genet 2002
66
27

Increased incidence of cancer in patients with cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, L Teppo, I Kaitila. J Pediatr 1999
62
18

Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.
Leslie E Rogler, Brian Kosmyna, David Moskowitz, Remon Bebawee, Joseph Rahimzadeh, Katrina Kutchko, Alain Laederach, Luigi D Notarangelo, Silvia Giliani, Eric Bouhassira,[...]. Hum Mol Genet 2014
64
18

Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
Miguel A de la Fuente, Mike Recher, Nicholas L Rider, Kevin A Strauss, D Holmes Morton, Margaret Adair, Francisco A Bonilla, Hans D Ochs, Erwin W Gelfand, Itai M Pessach,[...]. J Allergy Clin Immunol 2011
26
18

Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-α mAbs.
Despina Moshous, Isabelle Meyts, Sylvie Fraitag, Carl E I Janssen, Marianne Debré, Felipe Suarez, Jaan Toelen, Kris De Boeck, Tania Roskams, Antoine Deschildre,[...]. J Allergy Clin Immunol 2011
16
18

Dermatologic manifestations of ataxia-telangiectasia syndrome.
Shoshana Greenberger, Yackov Berkun, Bruria Ben-Zeev, Yonit Banet Levi, Aviv Barziliai, Andreea Nissenkorn. J Am Acad Dermatol 2013
25
18

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.
S Chavanas, C Bodemer, A Rochat, D Hamel-Teillac, M Ali, A D Irvine, J L Bonafé, J Wilkinson, A Taïeb, Y Barrandon,[...]. Nat Genet 2000
561
18

Hematologically important mutations: leukocyte adhesion deficiency (first update).
Edith van de Vijver, Anne Maddalena, Özden Sanal, Steven M Holland, Gulbu Uzel, Manisha Madkaikar, Martin de Boer, Karin van Leeuwen, M Yavuz Köker, Nima Parvaneh,[...]. Blood Cells Mol Dis 2012
98
18

Homeostatic tissue responses in skin biopsies from NOMID patients with constitutive overproduction of IL-1β.
Pamela Aubert, Mayte Suárez-Fariñas, Hiroshi Mitsui, Leanne M Johnson-Huang, Jamie Lynn Harden, Katherine C Pierson, Joseph G Dolan, Inna Novitskaya, Israel Coats, Jacob Estes,[...]. PLoS One 2012
25
18


Primary immunodeficiencies underlying fungal infections.
Fanny Lanternier, Sophie Cypowyj, Capucine Picard, Jacinta Bustamante, Olivier Lortholary, Jean-Laurent Casanova, Anne Puel. Curr Opin Pediatr 2013
117
18

Mechanisms of cellular invasion by intracellular parasites.
Dawn M Walker, Steve Oghumu, Gaurav Gupta, Bradford S McGwire, Mark E Drew, Abhay R Satoskar. Cell Mol Life Sci 2014
81
18

Erythroderma/exfoliative dermatitis: a synopsis.
Virendra N Sehgal, Govind Srivastava, Kabir Sardana. Int J Dermatol 2004
55
18


Reviewing Omenn syndrome.
K Aleman, J G Noordzij, R de Groot, J J van Dongen, N G Hartwig. Eur J Pediatr 2001
78
18

Wiskott-Aldrich syndrome: a comprehensive review.
Michel J Massaad, Narayanaswamy Ramesh, Raif S Geha. Ann N Y Acad Sci 2013
166
18

Cutaneous manifestations in patients with Wiskott-Aldrich syndrome submitted to haematopoietic stem cell transplantation.
Juliana Gomes Loyola Presa, Vania Oliveira de Carvalho, Laura Rogers Morrisey, Carmem Maria Bonfim, Kerstin Taniguchi Abagge, Angélica Vasselai, Leide Parolin Marinoni. Arch Dis Child 2013
6
33

CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update.
Nikoletta Nagy, Péter Vályi, Zsanett Csoma, Adrienn Sulák, Kornélia Tripolszki, Katalin Farkas, Ekaterine Paschali, Ferenc Papp, Lola Tóth, Beáta Fábos,[...]. Mol Genet Genomic Med 2014
34
18

The molecular basis of leukocyte recruitment and its deficiencies.
Sarah Schmidt, Markus Moser, Markus Sperandio. Mol Immunol 2013
117
18

Complement deficiencies in systemic lupus erythematosus.
Angela R Bryan, Eveline Y Wu. Curr Allergy Asthma Rep 2014
27
18


Cutaneous purulent aspergillosis in a young man with chronic granulomatous disease.
S Chatzipanagiotou, K Takou, A Perogamvros. Mycoses 1998
11
18

Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.
W Introne, R E Boissy, W A Gahl. Mol Genet Metab 1999
192
18

A multiinstitutional survey of the Wiskott-Aldrich syndrome.
K E Sullivan, C A Mullen, R M Blaese, J A Winkelstein. J Pediatr 1994
432
18

Ichthyosis in the newborn.
Brittany G Craiglow. Semin Perinatol 2013
21
18


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.