A citation-based method for searching scientific literature

Avery H Weiss, Dan Doherty, Melissa Parisi, Dennis Shaw, Ian Glass, James O Phillips. Invest Ophthalmol Vis Sci 2009
Times Cited: 20







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



Times Cited
  Times     Co-cited
Similarity


"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
217
55


Clinical features and revised diagnostic criteria in Joubert syndrome.
B L Maria, E Boltshauser, S C Palmer, T X Tran. J Child Neurol 1999
164
40

Ophthalmic features of Joubert syndrome.
Arif O Khan, Darren T Oystreck, Mohamed Z Seidahmed, Abdulmajeed AlDrees, Salah A Elmalik, Ibrahim A Alorainy, Mustafa A Salih. Ophthalmology 2008
34
40

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
290
40

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
212
40

Joubert syndrome: long-term follow-up.
Peter R Hodgkins, Christopher M Harris, Fatima S Shawkat, Dorothy A Thompson, Kling Chong, Christine Timms, Isabelle Russell-Eggitt, David S Taylor, Anthony Kriss. Dev Med Child Neurol 2004
44
40

Ophthalmological findings in Joubert syndrome.
V Sturm, H Leiba, M N Menke, E M Valente, A Poretti, K Landau, E Boltshauser. Eye (Lond) 2010
24
40

Joubert syndrome: a review.
J M Saraiva, M Baraitser. Am J Med Genet 1992
225
35

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
277
35



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
399
30

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
156
30

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
Francesco Brancati, Giuseppe Barrano, Jennifer L Silhavy, Sarah E Marsh, Lorena Travaglini, Stephanie L Bielas, Maria Amorini, Dominika Zablocka, Hulya Kayserili, Lihadh Al-Gazali,[...]. Am J Hum Genet 2007
105
30

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
174
30

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
84
30

Follow-up in children with Joubert syndrome.
M Steinlin, M Schmid, K Landau, E Boltshauser. Neuropediatrics 1997
106
30

Ocular and oculomotor signs in Joubert syndrome.
R J Tusa, M T Hove. J Child Neurol 1999
41
30

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
86
30

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
93
30

Genotypes and phenotypes of Joubert syndrome and related disorders.
Enza Maria Valente, Francesco Brancati, Bruno Dallapiccola. Eur J Med Genet 2008
100
30

Joubert Syndrome and related disorders.
Francesco Brancati, Bruno Dallapiccola, Enza Maria Valente. Orphanet J Rare Dis 2010
203
30

Joubert syndrome: congenital cerebellar ataxia with the molar tooth.
Marta Romani, Alessia Micalizzi, Enza Maria Valente. Lancet Neurol 2013
192
30

Joubert syndrome.
S R Lambert, A Kriss, M Gresty, S Benton, D Taylor. Arch Ophthalmol 1989
74
25

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
800
25

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
25

Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
Enza Maria Valente, Sarah E Marsh, Marco Castori, Tracy Dixon-Salazar, Enrico Bertini, Lihadh Al-Gazali, Jean Messer, Clara Barbot, C Geoffrey Woods, Eugen Boltshauser,[...]. Ann Neurol 2005
64
25

The face of Joubert syndrome: a study of dysmorphology and anthropometry.
Stephen R Braddock, Kimberly M Henley, Bernard L Maria. Am J Med Genet A 2007
22
25

Joubert syndrome (and related disorders) (OMIM 213300).
Melissa A Parisi, Dan Doherty, Phillip F Chance, Ian A Glass. Eur J Hum Genet 2007
143
25

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
176
25

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
65
25

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
168
20

Oromotor and communication findings in joubert syndrome: further evidence of multisystem apraxia.
Barbara A Braddock, Janet E Farmer, Kathleen M Deidrick, Jana M Iverson, Bernard L Maria. J Child Neurol 2006
21
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
233
20

Prenatal diagnosis of Joubert syndrome complicated with encephalocele using two-dimensional and three-dimensional ultrasound.
P Wang, F M Chang, C H Chang, C H Yu, Y C Jung, C C Huang. Ultrasound Obstet Gynecol 1999
27
20


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
247
20

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
327
20

Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker syndrome.
B L Maria, A Bozorgmanesh, K N Kimmel, D Theriaque, R G Quisling. J Child Neurol 2001
20
20


Neurobehavioral development in Joubert syndrome.
J Gitten, D Dede, E Fennell, R Quisling, B L Maria. J Child Neurol 1998
37
20

Cognition, behavior, and development in Joubert syndrome.
E B Fennell, J C Gitten, D E Dede, B L Maria. J Child Neurol 1999
33
20

Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.
B L Maria, R G Quisling, L C Rosainz, A T Yachnis, J Gitten, D Dede, E Fennell. J Child Neurol 1999
151
20

Neuropathology of Joubert syndrome.
A T Yachnis, L B Rorke. J Child Neurol 1999
98
20

Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders.
Joel Fluss, Susan Blaser, David Chitayat, Hani Akoury, Phyllis Glanc, Martin Skidmore, Charles Raybaud. J Child Neurol 2006
35
20

Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
Dan Doherty, Ian A Glass, Joseph R Siebert, Peter J Strouse, Melissa A Parisi, Dennis W W Shaw, Phillip F Chance, Mason Barr, David Nyberg. Prenat Diagn 2005
47
20

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.
Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory J Hannon, Alan L Shanske, John Moshe Gomori, Joseph Ekstein, Orly Elpeleg. Am J Hum Genet 2010
63
20

The retinal ciliopathies.
N A Adams, Ahmed Awadein, Hassanain S Toma. Ophthalmic Genet 2007
129
20

Clinical and molecular features of Joubert syndrome and related disorders.
Melissa A Parisi. Am J Med Genet C Semin Med Genet 2009
124
20


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.