A citation-based method for searching scientific literature

Chaim M Roifman, Yiping Gu, Amos Cohen. J Allergy Clin Immunol 2006
Times Cited: 69







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



Times Cited
  Times     Co-cited
Similarity


Omenn syndrome in an infant with IL7RA gene mutation.
Silvia Giliani, Carmen Bonfim, Genevieve de Saint Basile, Gaetana Lanzi, Nicole Brousse, Adriana Koliski, Mariester Malvezzi, Alain Fischer, Luigi D Notarangelo, Francoise Le Deist. J Pediatr 2006
66
54

Omenn syndrome due to ARTEMIS mutations.
Markus Ege, Yunmei Ma, Burkhard Manfras, Krzysztof Kalwak, Haihui Lu, Michael R Lieber, Klaus Schwarz, Ulrich Pannicke. Blood 2005
140
46

Partial V(D)J recombination activity leads to Omenn syndrome.
A Villa, S Santagata, F Bozzi, S Giliani, A Frattini, L Imberti, L B Gatta, H D Ochs, K Schwarz, L D Notarangelo,[...]. Cell 1998
307
43


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
301
28

Adenosine deaminase deficiency can present with features of Omenn syndrome.
Chaim M Roifman, Junyan Zhang, Adelle Atkinson, Eyal Grunebaum, Karen Mandel. J Allergy Clin Immunol 2008
35
57

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
A Villa, C Sobacchi, L D Notarangelo, F Bozzi, M Abinun, T G Abrahamsen, P D Arkwright, M Baniyash, E G Brooks, M E Conley,[...]. Blood 2001
241
27

Omenn syndrome is associated with mutations in DNA ligase IV.
Eyal Grunebaum, Andrea Bates, Chaim M Roifman. J Allergy Clin Immunol 2008
71
27

Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.
B Corneo, D Moshous, T Güngör, N Wulffraat, P Philippet, F L Le Deist, A Fischer, J P de Villartay. Blood 2001
140
26

Skin infiltration of CD56(bright) CD16(-) natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations.
Fumie Shibata, Tomoko Toma, Taizo Wada, Masayuki Inoue, Yumi Tone, Kazuhide Ohta, Yoshihito Kasahara, Fumie Sano, Mitsuaki Kimura, Mitsuru Ikeno,[...]. Eur J Haematol 2007
24
66

AIRE deficiency in thymus of 2 patients with Omenn syndrome.
Patrizia Cavadini, William Vermi, Fabio Facchetti, Stefania Fontana, Seiho Nagafuchi, Evelina Mazzolari, Anna Sediva, Veronica Marrella, Anna Villa, Alain Fischer,[...]. J Clin Invest 2005
109
21

RAG-dependent primary immunodeficiencies.
Cristina Sobacchi, Veronica Marrella, Francesca Rucci, Paolo Vezzoni, Anna Villa. Hum Mutat 2006
84
21

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
Christian T Thiel, Denise Horn, Bernhard Zabel, Arif B Ekici, Kelly Salinas, Erich Gebhart, Franz Rüschendorf, Heinrich Sticht, Jürgen Spranger, Dietmar Müller,[...]. Am J Hum Genet 2005
91
18


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
64
20

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
52
25

Omenn syndrome: inflammation in leaky severe combined immunodeficiency.
Anna Villa, Luigi D Notarangelo, Chaim M Roifman. J Allergy Clin Immunol 2008
134
18

Reviewing Omenn syndrome.
K Aleman, J G Noordzij, R de Groot, J J van Dongen, N G Hartwig. Eur J Pediatr 2001
77
17

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
Luisa Bonafé, Emmanouil T Dermitzakis, Sheila Unger, Cheryl R Greenberg, Belinda A Campos-Xavier, Andreas Zankl, Catherine Ucla, Stylianos E Antonarakis, Andrea Superti-Furga, Alexandre Reymond. PLoS Genet 2005
48
25

DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA.
V A MCKUSICK, R ELDRIDGE, J A HOSTETLER, U RUANGWIT, J A EGELAND. Bull Johns Hopkins Hosp 1965
265
17


Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.
A R Gennery, M A Slatter, J Rice, L H Hoefsloot, D Barge, A McLean-Tooke, T Montgomery, J A Goodship, A D Burt, T J Flood,[...]. Clin Exp Immunol 2008
68
17

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
34

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene.
T W Kuijpers, M Ridanpää, M Peters, I de Boer, J M J J Vossen, S T Pals, I Kaitila, R C M Hennekam. J Med Genet 2003
28
39

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.
Pia Hermanns, Alison A Bertuch, Terry K Bertin, Brian Dawson, Mark E Schmitt, Chad Shaw, Bernhard Zabel, Brendan Lee. Hum Mol Genet 2005
74
15


Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome.
S Signorini, L Imberti, S Pirovano, A Villa, F Facchetti, M Ungari, F Bozzi, A Albertini, A G Ugazio, P Vezzoni,[...]. Blood 1999
68
16

A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.
Veronica Marrella, Pietro Luigi Poliani, Anna Casati, Francesca Rucci, Laura Frascoli, Marie-Lise Gougeon, Brigitte Lemercier, Marita Bosticardo, Maria Ravanini, Manuela Battaglia,[...]. J Clin Invest 2007
78
15

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
Jean-Pierre de Villartay, Annick Lim, Hamoud Al-Mousa, Sophie Dupont, Julie Déchanet-Merville, Edith Coumau-Gatbois, Marie-Lise Gougeon, Arnaud Lemainque, Céline Eidenschenk, Emmanuelle Jouanguy,[...]. J Clin Invest 2005
134
15

RMRP mutations in Japanese patients with cartilage-hair hypoplasia.
Eiji Nakashima, Akihiko Mabuchi, Kenichi Kashimada, Toshikazu Onishi, Junwei Zhang, Hirofumi Ohashi, Gen Nishimura, Shiro Ikegawa. Am J Med Genet A 2003
26
38

Omenn's syndrome occurring in patients without mutations in recombination activating genes.
Andrew R Gennery, Elizabeth Hodges, Anthony P Williams, Susan Harris, Anna Villa, Brian Angus, Andrew J Cant, John L Smith. Clin Immunol 2005
20
50

Evolution of a T-B- SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection.
Ilan Dalal, Uri Tabori, Bela Bielorai, Hana Golan, Eli Rosenthal, Ninette Amariglio, Gidi Rechavi, Amos Toren. Clin Immunol 2005
33
30

RAG mutations in human B cell-negative SCID.
K Schwarz, G H Gauss, L Ludwig, U Pannicke, Z Li, D Lindner, W Friedrich, R A Seger, T E Hansen-Hagge, S Desiderio,[...]. Science 1996
352
14

An interleukin-2 receptor gamma chain mutation with normal thymus morphology.
N Sharfe, M Shahar, C M Roifman. J Clin Invest 1997
72
13

Deficiency of humoral immunity in cartilage-hair hypoplasia.
O Mäkitie, I Kaitila, E Savilahti. J Pediatr 2000
41
21

RMRP mutations in cartilage-hair hypoplasia.
Pia Hermanns, Alyssa Tran, Elda Munivez, Susan Carter, Bernhard Zabel, Brendan Lee, Jules G Leroy. Am J Med Genet A 2006
39
23


Homeostatically proliferating CD4 T cells are involved in the pathogenesis of an Omenn syndrome murine model.
Khie Khiong, Masaaki Murakami, Chika Kitabayashi, Naoko Ueda, Shin-ichiro Sawa, Akemi Sakamoto, Brian L Kotzin, Stephen J Rozzo, Katsuhiko Ishihara, Marileila Verella-Garcia,[...]. J Clin Invest 2007
57
15

Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome).
G de Saint-Basile, F Le Deist, J P de Villartay, N Cerf-Bensussan, O Journet, N Brousse, C Griscelli, A Fischer. J Clin Invest 1991
125
13

Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases.
M Louise Markert, Marilyn J Alexieff, Jie Li, Marcella Sarzotti, Daniel A Ozaki, Blythe H Devlin, Gregory D Sempowski, Maria E Rhein, Paul Szabolcs, Laura P Hale,[...]. J Allergy Clin Immunol 2004
97
13

A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.
Mirjam van der Burg, Lieneke R van Veelen, Nicole S Verkaik, Wouter W Wiegant, Nico G Hartwig, Barbara H Barendregt, Linda Brugmans, Anja Raams, Nicolaas G J Jaspers, Malgorzata Z Zdzienicka,[...]. J Clin Invest 2006
129
13

Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.
Eiji Nakashima, Joseph R Tran, Tim J M Welting, Ger J M Pruijn, Yuichiro Hirose, Gen Nishimura, Hirofumi Ohashi, Shepherd H Schurman, Jun Cheng, Fabio Candotti,[...]. Am J Med Genet A 2007
25
36

Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency.
Tuba Turul, Ilhan Tezcan, Hasibe Artac, Sandra de Bruin-Versteeg, Barbara H Barendregt, Ismail Reisli, Ozden Sanal, Jacques J M van Dongen, Mirjam van der Burg. Eur J Pediatr 2009
64
14

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
440
13


RNase MRP cleaves the CLB2 mRNA to promote cell cycle progression: novel method of mRNA degradation.
Tina Gill, Ti Cai, Jason Aulds, Sara Wierzbicki, Mark E Schmitt. Mol Cell Biol 2004
117
11


A variant of SCID with specific immune responses and predominance of gamma delta T cells.
Stephan Ehl, Klaus Schwarz, Anselm Enders, Ulrich Duffner, Ulrich Pannicke, Joachim Kühr, Françoise Mascart, Annette Schmitt-Graeff, Charlotte Niemeyer, Paul Fisch. J Clin Invest 2005
106
11

Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor.
N Sharfe, H K Dadi, M Shahar, C M Roifman. Proc Natl Acad Sci U S A 1997
267
11

Bone marrow transplantation for cartilage-hair-hypoplasia.
R Guggenheim, R Somech, E Grunebaum, A Atkinson, C M Roifman. Bone Marrow Transplant 2006
29
27


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.