A citation-based method for searching scientific literature

Francesco Brancati, Giuseppe Barrano, Jennifer L Silhavy, Sarah E Marsh, Lorena Travaglini, Stephanie L Bielas, Maria Amorini, Dominika Zablocka, Hulya Kayserili, Lihadh Al-Gazali, Enrico Bertini, Eugen Boltshauser, Marc D'Hooghe, Elisa Fazzi, Elif Y Fenerci, Raoul C M Hennekam, Andrea Kiss, Melissa M Lees, Elysa Marco, Shubha R Phadke, Luciana Rigoli, Stephane Romano, Carmelo D Salpietro, Elliott H Sherr, Sabrina Signorini, Petter Stromme, Bernard Stuart, Laszlo Sztriha, David H Viskochil, Adnan Yuksel, Bruno Dallapiccola, Enza Maria Valente, Joseph G Gleeson. Am J Hum Genet 2007
Times Cited: 108







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



Times Cited
  Times     Co-cited
Similarity


The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
John A Sayer, Edgar A Otto, John F O'Toole, Gudrun Nurnberg, Michael A Kennedy, Christian Becker, Hans Christian Hennies, Juliana Helou, Massimo Attanasio, Blake V Fausett,[...]. Nat Genet 2006
402
55

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Enza Maria Valente, Jennifer L Silhavy, Francesco Brancati, Giuseppe Barrano, Suguna Rani Krishnaswami, Marco Castori, Madeline A Lancaster, Eugen Boltshauser, Loredana Boccone, Lihadh Al-Gazali,[...]. Nat Genet 2006
280
50

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
Anneke I den Hollander, Robert K Koenekoop, Suzanne Yzer, Irma Lopez, Maarten L Arends, Krysta E J Voesenek, Marijke N Zonneveld, Tim M Strom, Thomas Meitinger, Han G Brunner,[...]. Am J Hum Genet 2006
451
46

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.
Lekbir Baala, Sophie Audollent, Jéléna Martinovic, Catherine Ozilou, Marie-Claude Babron, Sivanthiny Sivanandamoorthy, Sophie Saunier, Rémi Salomon, Marie Gonzales, Eleanor Rattenberry,[...]. Am J Hum Genet 2007
196
43

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Isabelle Perrault, Nathalie Delphin, Sylvain Hanein, Sylvie Gerber, Jean-Louis Dufier, Olivier Roche, Sabine Defoort-Dhellemmes, Hélène Dollfus, Elisa Fazzi, Arnold Munnich,[...]. Hum Mutat 2007
148
31

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
Nicholas T Gorden, Heleen H Arts, Melissa A Parisi, Karlien L M Coene, Stef J F Letteboer, Sylvia E C van Beersum, Dorus A Mans, Abigail Hikida, Melissa Eckert, Dana Knutzen,[...]. Am J Hum Genet 2008
157
29

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Marion Delous, Lekbir Baala, Rémi Salomon, Christine Laclef, Jeanette Vierkotten, Kàlmàn Tory, Christelle Golzio, Tiphanie Lacoste, Laurianne Besse, Catherine Ozilou,[...]. Nat Genet 2007
331
28

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
Lekbir Baala, Stephane Romano, Rana Khaddour, Sophie Saunier, Ursula M Smith, Sophie Audollent, Catherine Ozilou, Laurence Faivre, Nicole Laurent, Bernard Foliguet,[...]. Am J Hum Genet 2007
170
27

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
Russell J Ferland, Wafaa Eyaid, Randall V Collura, Laura D Tully, R Sean Hill, Doha Al-Nouri, Ahmed Al-Rumayyan, Meral Topcu, Generoso Gascon, Adria Bodell,[...]. Nat Genet 2004
293
26

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
Carmen C Leitch, Norann A Zaghloul, Erica E Davis, Corinne Stoetzel, Anna Diaz-Font, Suzanne Rix, Majid Alfadhel, Richard Alan Lewis, Wafaa Eyaid, Eyal Banin,[...]. Nat Genet 2008
289
26

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Frauke Coppieters, Steve Lefever, Bart P Leroy, Elfride De Baere. Hum Mutat 2010
179
25

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
Kálmán Tory, Tiphanie Lacoste, Lydie Burglen, Vincent Morinière, Nathalie Boddaert, Marie-Alice Macher, Brigitte Llanas, Hubert Nivet, Albert Bensman, Patrick Niaudet,[...]. J Am Soc Nephrol 2007
112
24

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.
Bo Chang, Hemant Khanna, Norman Hawes, David Jimeno, Shirley He, Concepcion Lillo, Sunil K Parapuram, Hong Cheng, Alison Scott, Ron E Hurd,[...]. Hum Mol Genet 2006
288
24

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
Melissa A Parisi, Craig L Bennett, Melissa L Eckert, William B Dobyns, Joseph G Gleeson, Dennis W W Shaw, Ruth McDonald, Allison Eddy, Phillip F Chance, Ian A Glass. Am J Hum Genet 2004
177
24

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Annalisa Mazzotta, Enrico Bertini, Eugen Boltshauser, Stefano D'Arrigo, Francesco Emma, Elisa Fazzi, Romina Gallizzi,[...]. Hum Mutat 2009
68
35

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
Valeska Frank, Anneke I den Hollander, Nadina Ortiz Brüchle, Marijke N Zonneveld, Gudrun Nürnberg, Christian Becker, Gabriele Du Bois, Heide Kendziorra, Susanne Roosing, Jan Senderek,[...]. Hum Mutat 2008
102
23

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.
Tracy Dixon-Salazar, Jennifer L Silhavy, Sarah E Marsh, Carrie M Louie, Lesley C Scott, Aithala Gururaj, Lihadh Al-Gazali, Asma A Al-Tawari, Hulya Kayserili, László Sztriha,[...]. Am J Hum Genet 2004
214
23

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
Vincent Cantagrel, Jennifer L Silhavy, Stephanie L Bielas, Dominika Swistun, Sarah E Marsh, Julien Y Bertrand, Sophie Audollent, Tania Attié-Bitach, Kenton R Holden, William B Dobyns,[...]. Am J Hum Genet 2008
251
23

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.
Juliana Helou, Edgar A Otto, Massimo Attanasio, Susan J Allen, Melissa A Parisi, Ian Glass, Boris Utsch, Seema Hashmi, Elisa Fazzi, Heymut Omran,[...]. J Med Genet 2007
74
29

The ciliopathies: an emerging class of human genetic disorders.
Jose L Badano, Norimasa Mitsuma, Phil L Beales, Nicholas Katsanis. Annu Rev Genomics Hum Genet 2006
805
20

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Heleen H Arts, Dan Doherty, Sylvia E C van Beersum, Melissa A Parisi, Stef J F Letteboer, Nicholas T Gorden, Theo A Peters, Tina Märker, Krysta Voesenek, Aileen Kartono,[...]. Nat Genet 2007
236
20

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Enza Maria Valente, Francesco Brancati, Jennifer L Silhavy, Marco Castori, Sarah E Marsh, Giuseppe Barrano, Enrico Bertini, Eugen Boltshauser, Maha S Zaki, Alice Abdel-Aleem,[...]. Ann Neurol 2006
96
20


Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
Joseph G Gleeson, Lesley C Keeler, Melissa A Parisi, Sarah E Marsh, Phillip F Chance, Ian A Glass, John M Graham, Bernard L Maria, A James Barkovich, William B Dobyns. Am J Med Genet A 2004
175
19

"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation.
B L Maria, K B Hoang, R J Tusa, A A Mancuso, L M Hamed, R G Quisling, M T Hove, E B Fennell, M Booth-Jones, D M Ringdahl,[...]. J Child Neurol 1997
218
18

Joubert Syndrome and related disorders.
Francesco Brancati, Bruno Dallapiccola, Enza Maria Valente. Orphanet J Rare Dis 2010
210
18

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
M A Parisi, D Doherty, M L Eckert, D W W Shaw, H Ozyurek, S Aysun, O Giray, A Al Swaid, S Al Shahwan, N Dohayan,[...]. J Med Genet 2006
85
20

CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease.
William Y Tsang, Carine Bossard, Hemant Khanna, Johan Peränen, Anand Swaroop, Vivek Malhotra, Brian David Dynlacht. Dev Cell 2008
180
17

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
D Doherty, M A Parisi, L S Finn, M Gunay-Aygun, M Al-Mateen, D Bates, C Clericuzio, H Demir, M Dorschner, A J van Essen,[...]. J Med Genet 2010
89
19

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Hemant Khanna, Erica E Davis, Carlos A Murga-Zamalloa, Alejandro Estrada-Cuzcano, Irma Lopez, Anneke I den Hollander, Marijke N Zonneveld, Mohammad I Othman, Naushin Waseem, Christina F Chakarova,[...]. Nat Genet 2009
215
17

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Stephanie L Bielas, Jennifer L Silhavy, Francesco Brancati, Marina V Kisseleva, Lihadh Al-Gazali, Laszlo Sztriha, Riad A Bayoumi, Maha S Zaki, Alice Abdel-Aleem, Rasim Ozgur Rosti,[...]. Nat Genet 2009
283
17

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
Carrie M Louie, Gianluca Caridi, Vanda S Lopes, Francesco Brancati, Andreas Kispert, Madeline A Lancaster, Andrew M Schlossman, Edgar A Otto, Michael Leitges, Hermann-Josef Gröne,[...]. Nat Genet 2010
138
17

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
Ursula M Smith, Mark Consugar, Louise J Tee, Brandy M McKee, Esther N Maina, Shelly Whelan, Neil V Morgan, Erin Goranson, Paul Gissen, Stacie Lilliquist,[...]. Nat Genet 2006
199
16

Joubert syndrome (and related disorders) (OMIM 213300).
Melissa A Parisi, Dan Doherty, Phillip F Chance, Ian A Glass. Eur J Hum Genet 2007
145
16


Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
Enza Maria Valente, Clare V Logan, Soumaya Mougou-Zerelli, Jeong Ho Lee, Jennifer L Silhavy, Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Sveva Romani, Barbara Illi,[...]. Nat Genet 2010
187
16

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
Liyun Sang, Julie J Miller, Kevin C Corbit, Rachel H Giles, Matthew J Brauer, Edgar A Otto, Lisa M Baye, Xiaohui Wen, Suzie J Scales, Mandy Kwong,[...]. Cell 2011
404
16

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
Mira Kyttälä, Jonna Tallila, Riitta Salonen, Outi Kopra, Nicolai Kohlschmidt, Paulina Paavola-Sakki, Leena Peltonen, Marjo Kestilä. Nat Genet 2006
181
15

Leber congenital amaurosis: genes, proteins and disease mechanisms.
Anneke I den Hollander, Ronald Roepman, Robert K Koenekoop, Frans P M Cremers. Prog Retin Eye Res 2008
540
15

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Soumaya Mougou-Zerelli, Sophie Thomas, Emmanuelle Szenker, Sophie Audollent, Nadia Elkhartoufi, Candice Babarit, Stéphane Romano, Rémi Salomon, Jeanne Amiel, Chantal Esculpavit,[...]. Hum Mutat 2009
66
22

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
Francesc R Garcia-Gonzalo, Kevin C Corbit, María Salomé Sirerol-Piquer, Gokul Ramaswami, Edgar A Otto, Thomas R Noriega, Allen D Seol, Jon F Robinson, Christopher L Bennett, Dragana J Josifova,[...]. Nat Genet 2011
422
15

NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.
M Castori, E M Valente, M A Donati, S Salvi, E Fazzi, E Procopio, T Galluccio, F Emma, B Dallapiccola, E Bertini. J Med Genet 2005
70
20

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
Helen R Dawe, Ursula M Smith, Andrew R Cullinane, Dianne Gerrelli, Phillip Cox, Jose L Badano, Sarah Blair-Reid, Nisha Sriram, Nicholas Katsanis, Tania Attie-Bitach,[...]. Hum Mol Genet 2007
193
13

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
Rana Khaddour, Ursula Smith, Lekbir Baala, Jéléna Martinovic, Davina Clavering, Rizwana Shaffiq, Catherine Ozilou, Andrew Cullinane, Mira Kyttälä, Stavit Shalev,[...]. Hum Mutat 2007
65
20

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
Edgar A Otto, Bart Loeys, Hemant Khanna, Jan Hellemans, Ralf Sudbrak, Shuling Fan, Ulla Muerb, John F O'Toole, Juliana Helou, Massimo Attanasio,[...]. Nat Genet 2005
283
13

Clinical features and revised diagnostic criteria in Joubert syndrome.
B L Maria, E Boltshauser, S C Palmer, T X Tran. J Child Neurol 1999
166
13


OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
Karlien L M Coene, Ronald Roepman, Dan Doherty, Bushra Afroze, Hester Y Kroes, Stef J F Letteboer, Lock H Ngu, Bartlomiej Budny, Erwin van Wijk, Nicholas T Gorden,[...]. Am J Hum Genet 2009
133
13

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Erica E Davis, Qi Zhang, Qin Liu, Bill H Diplas, Lisa M Davey, Jane Hartley, Corinne Stoetzel, Katarzyna Szymanska, Gokul Ramaswami, Clare V Logan,[...]. Nat Genet 2011
247
13

Diffusion tensor imaging in Joubert syndrome.
A Poretti, E Boltshauser, T Loenneker, E M Valente, F Brancati, K Il'yasov, T A G M Huisman. AJNR Am J Neuroradiol 2007
88
13


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.