A citation-based method for searching scientific literature

Anna Lindstrand, Stephan Frangakis, Claudia M B Carvalho, Ellen B Richardson, Kelsey A McFadden, Jason R Willer, Davut Pehlivan, Pengfei Liu, Igor L Pediaditakis, Aniko Sabo, Richard Alan Lewis, Eyal Banin, James R Lupski, Erica E Davis, Nicholas Katsanis. Am J Hum Genet 2016
Times Cited: 60







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



Times Cited
  Times     Co-cited
Similarity


Bardet-Biedl syndrome.
Elizabeth Forsythe, Philip L Beales. Eur J Hum Genet 2013
280
26

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.
P L Beales, N Elcioglu, A S Woolf, D Parker, F A Flinter. J Med Genet 1999
495
26

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
N Katsanis, S J Ansley, J L Badano, E R Eichers, R A Lewis, B E Hoskins, P J Scambler, W S Davidson, P L Beales, J R Lupski. Science 2001
410
23

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.
Maxence V Nachury, Alexander V Loktev, Qihong Zhang, Christopher J Westlake, Johan Peränen, Andreas Merdes, Diane C Slusarski, Richard H Scheller, J Fernando Bazan, Val C Sheffield,[...]. Cell 2007
957
23

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
Anna Lindstrand, Erica E Davis, Claudia M B Carvalho, Davut Pehlivan, Jason R Willer, I-Chun Tsai, Subhadra Ramanathan, Craig Zuppan, Aniko Sabo, Donna Muzny,[...]. Am J Hum Genet 2014
55
23

Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
Elise Heon, Gunhee Kim, Sophie Qin, Janelle E Garrison, Erika Tavares, Ajoy Vincent, Nina Nuangchamnong, C Anthony Scott, Diane C Slusarski, Val C Sheffield. Hum Mol Genet 2016
58
22

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
286
20

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
20

The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.
Hua Jin, Susan Roehl White, Toshinobu Shida, Stefan Schulz, Mike Aguiar, Steven P Gygi, J Fernando Bazan, Maxence V Nachury. Cell 2010
397
20

Genetics of human Bardet-Biedl syndrome, an updates.
S A Khan, N Muhammad, M A Khan, A Kamal, Z U Rehman, S Khan. Clin Genet 2016
70
18

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
18

Genes and molecular pathways underpinning ciliopathies.
Jeremy F Reiter, Michel R Leroux. Nat Rev Mol Cell Biol 2017
497
18

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
Kinga M Bujakowska, Qi Zhang, Anna M Siemiatkowska, Qin Liu, Emily Place, Marni J Falk, Mark Consugar, Marie-Elise Lancelot, Aline Antonio, Christine Lonjou,[...]. Hum Mol Genet 2015
90
16

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
Claire Redin, Stéphanie Le Gras, Oussema Mhamdi, Véronique Geoffroy, Corinne Stoetzel, Marie-Claire Vincent, Pietro Chiurazzi, Didier Lacombe, Ines Ouertani, Florence Petit,[...]. J Med Genet 2012
83
16


Dissection of epistasis in oligogenic Bardet-Biedl syndrome.
Jose L Badano, Carmen C Leitch, Stephen J Ansley, Helen May-Simera, Shaneka Lawson, Richard Alan Lewis, Philip L Beales, Harry C Dietz, Shannon Fisher, Nicholas Katsanis. Nature 2006
200
15

A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.
Alexander V Loktev, Qihong Zhang, John S Beck, Charles C Searby, Todd E Scheetz, J Fernando Bazan, Diane C Slusarski, Val C Sheffield, Peter K Jackson, Maxence V Nachury. Dev Cell 2008
202
15

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
Philip L Beales, Jose L Badano, Alison J Ross, Stephen J Ansley, Bethan E Hoskins, Brigitta Kirsten, Charles A Mein, Philippe Froguel, Peter J Scambler, Richard Alan Lewis,[...]. Am J Hum Genet 2003
177
15

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
Seongjin Seo, Lisa M Baye, Nathan P Schulz, John S Beck, Qihong Zhang, Diane C Slusarski, Val C Sheffield. Proc Natl Acad Sci U S A 2010
194
15

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.
Mohammed A Aldahmesh, Yuanyuan Li, Amal Alhashem, Shams Anazi, Hisham Alkuraya, Mais Hashem, Ali A Awaji, Sameera Sogaty, Abdullah Alkharashi, Saeed Alzahrani,[...]. Hum Mol Genet 2014
89
15

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.
Elise Schaefer, Corinne Stoetzel, Sophie Scheidecker, Véronique Geoffroy, Megana K Prasad, Claire Redin, Isabelle Missotte, Didier Lacombe, Jean-Louis Mandel, Jean Muller,[...]. J Hum Genet 2016
42
21

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.
Susan J Moore, Jane S Green, Yanli Fan, Ashvinder K Bhogal, Elizabeth Dicks, Bridget A Fernandez, Mark Stefanelli, Christopher Murphy, Benvon C Cramer, John C S Dean,[...]. Am J Med Genet A 2005
175
15

Managing Bardet-Biedl Syndrome-Now and in the Future.
Elizabeth Forsythe, Joanna Kenny, Chiara Bacchelli, Philip L Beales. Front Pediatr 2018
56
16

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
R Bachmann-Gagescu, J C Dempsey, I G Phelps, B J O'Roak, D M Knutzen, T C Rue, G E Ishak, C R Isabella, N Gorden, J Adkins,[...]. J Med Genet 2015
128
13

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
Philip L Beales, Elizabeth Bland, Jonathan L Tobin, Chiara Bacchelli, Beyhan Tuysuz, Josephine Hill, Suzanne Rix, Chad G Pearson, Masatake Kai, Jane Hartley,[...]. Nat Genet 2007
216
13

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.
Stephen J Ansley, Jose L Badano, Oliver E Blacque, Josephine Hill, Bethan E Hoskins, Carmen C Leitch, Jun Chul Kim, Alison J Ross, Erica R Eichers, Tanya M Teslovich,[...]. Nature 2003
470
13

Ciliopathies: an expanding disease spectrum.
Aoife M Waters, Philip L Beales. Pediatr Nephrol 2011
387
13

Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia.
Nicolas F Berbari, Jacqueline S Lewis, Georgia A Bishop, Candice C Askwith, Kirk Mykytyn. Proc Natl Acad Sci U S A 2008
320
13

Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes.
Veronika Niederlova, Martin Modrak, Oksana Tsyklauri, Martina Huranova, Ondrej Stepanek. Hum Mutat 2019
26
30

The BBSome controls IFT assembly and turnaround in cilia.
Qing Wei, Yuxia Zhang, Yujie Li, Qing Zhang, Kun Ling, Jinghua Hu. Nat Cell Biol 2012
142
11

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
244
11

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.
Norann A Zaghloul, Nicholas Katsanis. J Clin Invest 2009
248
11

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
Jan Halbritter, Albane A Bizet, Miriam Schmidts, Jonathan D Porath, Daniela A Braun, Heon Yung Gee, Aideen M McInerney-Leo, Pauline Krug, Emilie Filhol, Erica E Davis,[...]. Am J Hum Genet 2013
133
11

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.
Darryl Y Nishimura, Melissa Fath, Robert F Mullins, Charles Searby, Michael Andrews, Roger Davis, Jeaneen L Andorf, Kirk Mykytyn, Ruth E Swiderski, Baoli Yang,[...]. Proc Natl Acad Sci U S A 2004
272
11

In search of triallelism in Bardet-Biedl syndrome.
Leen Abu-Safieh, Shamsa Al-Anazi, Lama Al-Abdi, Mais Hashem, Hisham Alkuraya, Mushari Alamr, Mugtaba O Sirelkhatim, Zuhair Al-Hassnan, Basim Alkuraya, Jawahir Y Mohamed,[...]. Eur J Hum Genet 2012
70
11

Characterizing the morbid genome of ciliopathies.
Ranad Shaheen, Katarzyna Szymanska, Basudha Basu, Nisha Patel, Nour Ewida, Eissa Faqeih, Amal Al Hashem, Nada Derar, Hadeel Alsharif, Mohammed A Aldahmesh,[...]. Genome Biol 2016
78
11

Ciliopathies.
Friedhelm Hildebrandt, Thomas Benzing, Nicholas Katsanis. N Engl J Med 2011
830
10

Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella.
G J Pazour, B L Dickert, Y Vucica, E S Seeley, J L Rosenbaum, G B Witman, D G Cole. J Cell Biol 2000
791
10

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
Caroline Alby, Kevin Piquand, Céline Huber, André Megarbané, Amale Ichkou, Marine Legendre, Fanny Pelluard, Ferechté Encha-Ravazi, Georges Abi-Tayeh, Bettina Bessières,[...]. Am J Hum Genet 2015
52
11

Ciliary disorder of the skeleton.
Celine Huber, Valerie Cormier-Daire. Am J Med Genet C Semin Med Genet 2012
150
10

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.
Ivan Duran, S Paige Taylor, Wenjuan Zhang, Jorge Martin, Kimberly N Forlenza, Rhonda P Spiro, Deborah A Nickerson, Michael Bamshad, Daniel H Cohn, Deborah Krakow. Sci Rep 2016
28
21

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.
Jun Chul Kim, Jose L Badano, Sonja Sibold, Muneer A Esmail, Josephine Hill, Bethan E Hoskins, Carmen C Leitch, Kerrie Venner, Stephen J Ansley, Alison J Ross,[...]. Nat Genet 2004
318
10

The oligogenic properties of Bardet-Biedl syndrome.
Nicholas Katsanis. Hum Mol Genet 2004
149
10

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
Corinne Stoetzel, Virginie Laurier, Erica E Davis, Jean Muller, Suzanne Rix, José L Badano, Carmen C Leitch, Nabiha Salem, Eliane Chouery, Sandra Corbani,[...]. Nat Genet 2006
190
10

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
Jose L Badano, Jun Chul Kim, Bethan E Hoskins, Richard Alan Lewis, Stephen J Ansley, David J Cutler, Claudio Castellan, Philip L Beales, Michel R Leroux, Nicholas Katsanis. Hum Mol Genet 2003
146
10

Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting.
Abigail L D Tadenev, Heather M Kulaga, Helen L May-Simera, Matthew W Kelley, Nicholas Katsanis, Randall R Reed. Proc Natl Acad Sci U S A 2011
67
10

Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome.
Muhammad M Abd-El-Barr, Kristen Sykoudis, Sara Andrabi, Erica R Eichers, Mark E Pennesi, Perciliz L Tan, John H Wilson, Nicholas Katsanis, James R Lupski, Samuel M Wu. Vision Res 2007
72
10

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
Yanli Fan, Muneer A Esmail, Stephen J Ansley, Oliver E Blacque, Keith Boroevich, Alison J Ross, Susan J Moore, Jose L Badano, Helen May-Simera, Deanna S Compton,[...]. Nat Genet 2004
239
10

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Jean Muller, C Stoetzel, M C Vincent, C C Leitch, V Laurier, J M Danse, S Hellé, V Marion, V Bennouna-Greene, S Vicaire,[...]. Hum Genet 2010
75
10

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.
Roger E Davis, Ruth E Swiderski, Kamal Rahmouni, Darryl Y Nishimura, Robert F Mullins, Khristofor Agassandian, Alisdair R Philp, Charles C Searby, Michael P Andrews, Stewart Thompson,[...]. Proc Natl Acad Sci U S A 2007
165
10


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.