| Year |
Citation |
Score |
| 2018 |
Forsythe E, Kenny J, Bacchelli C, Beales PL. Managing Bardet-Biedl Syndrome-Now and in the Future. Frontiers in Pediatrics. 6: 23. PMID 29487844 DOI: 10.3389/fped.2018.00023 |
0.3 |
|
| 2017 |
Antony D, Nampoory N, Bacchelli C, Melhem M, Wu K, James CT, Beales PL, Hubank M, Thomas D, Mashankar A, Behbehani K, Schmidts M, Alsmadi O. Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature. European Journal of Medical Genetics. PMID 28870638 DOI: 10.1016/j.ejmg.2017.08.019 |
0.342 |
|
| 2016 |
Sugiyama Y, Shelley EJ, Yoder BK, Kozmik Z, May-Simera HL, Beales PL, Lovicu FJ, McAvoy JW. Non-essential role for cilia in coordinating precise alignment of lens fibres. Mechanisms of Development. PMID 26825015 DOI: 10.1016/J.Mod.2016.01.003 |
0.358 |
|
| 2015 |
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, ... ... Beales PL, et al. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nature Cell Biology. PMID 26167768 DOI: 10.1038/Ncb3201 |
0.33 |
|
| 2015 |
Shoemark A, Dixon M, Beales PL, Hogg CL. Bardet Biedl syndrome: motile ciliary phenotype. Chest. 147: 764-70. PMID 25317630 DOI: 10.1378/chest.13-2913 |
0.306 |
|
| 2014 |
Su X, Driscoll K, Yao G, Raed A, Wu M, Beales PL, Zhou J. Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. Human Molecular Genetics. 23: 5441-51. PMID 24939912 DOI: 10.1093/Hmg/Ddu267 |
0.346 |
|
| 2014 |
Onoufriadis A, Shoemark A, Schmidts M, Patel M, Jimenez G, Liu H, Thomas B, Dixon M, Hirst RA, Rutman A, Burgoyne T, Williams C, Scully J, Bolard F, Lafitte JJ, ... Beales PL, et al. Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. Human Molecular Genetics. 23: 3362-74. PMID 24518672 DOI: 10.1093/Hmg/Ddu046 |
0.307 |
|
| 2014 |
Onoufriadis A, Shoemark A, Munye MM, James CT, Schmidts M, Patel M, Rosser EM, Bacchelli C, Beales PL, Scambler PJ, Hart SL, Danke-Roelse JE, Sloper JJ, Hull S, Hogg C, et al. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. Journal of Medical Genetics. 51: 61-7. PMID 24203976 DOI: 10.1136/Jmedgenet-2013-101938 |
0.304 |
|
| 2013 |
McInerney-Leo AM, Schmidts M, Cortés CR, Leo PJ, Gener B, Courtney AD, Gardiner B, Harris JA, Lu Y, Marshall M, Scambler PJ, Beales PL, Brown MA, Zankl A, et al. Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. American Journal of Human Genetics. 93: 515-23. PMID 23910462 DOI: 10.1016/j.ajhg.2013.06.022 |
0.319 |
|
| 2013 |
Hernandez-Hernandez V, Pravincumar P, Diaz-Font A, May-Simera H, Jenkins D, Knight M, Beales PL. Bardet-biedl syndrome proteins control the cilia length through regulation of actin polymerization Human Molecular Genetics. 22: 3858-3868. PMID 23716571 DOI: 10.1093/hmg/ddt241 |
0.332 |
|
| 2013 |
Schmidts M, Frank V, Eisenberger T, al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, ... ... Beales PL, et al. Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease Human Mutation. 34: 714-724. PMID 23418020 DOI: 10.1002/humu.22294 |
0.334 |
|
| 2013 |
Cardenas-Rodriguez M, Osborn DPS, Irigoín F, Graña M, Romero H, Beales PL, Badano JL. Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome Human Genetics. 132: 91-105. PMID 23015189 DOI: 10.1007/s00439-012-1228-5 |
0.414 |
|
| 2013 |
Forsythe E, Beales PL. Bardet-Biedl syndrome. European Journal of Human Genetics : Ejhg. 21: 8-13. PMID 22713813 DOI: 10.1038/ejhg.2012.115 |
0.306 |
|
| 2012 |
Putoux A, Nampoothiri S, Laurent N, Cormier-Daire V, Beales PL, Schinzel A, Bartholdi D, Alby C, Thomas S, Elkhartoufi N, Ichkou A, Litzler J, Munnich A, Encha-Razavi F, Kannan R, et al. Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. Journal of Medical Genetics. 49: 713-20. PMID 23125460 DOI: 10.1136/Jmedgenet-2012-101016 |
0.304 |
|
| 2012 |
Twigg SRF, Lloyd D, Jenkins D, Elçioglu NE, Cooper CDO, Al-Sannaa N, Annagür A, Gillessen-Kaesbach G, Hüning I, Knight SJL, Goodship JA, Keavney BD, Beales PL, Gileadi O, McGowan SJ, et al. Mutations in multidomain protein MEGF8 identify a carpenter syndrome subtype associated with defective lateralization American Journal of Human Genetics. 91: 897-905. PMID 23063620 DOI: 10.1016/j.ajhg.2012.08.027 |
0.351 |
|
| 2012 |
McIntyre JC, Davis EE, Joiner A, Williams CL, Tsai IC, Jenkins PM, McEwen DP, Zhang L, Escobado J, Thomas S, Szymanska K, Johnson CA, Beales PL, Green ED, Mullikin JC, et al. Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nature Medicine. 18: 1423-8. PMID 22941275 DOI: 10.1038/Nm.2860 |
0.323 |
|
| 2012 |
Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, ... ... Beales P, et al. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. American Journal of Human Genetics. 90: 864-70. PMID 22503633 DOI: 10.1016/j.ajhg.2012.03.006 |
0.345 |
|
| 2012 |
Rachel RA, May-Simera HL, Veleri S, Gotoh N, Choi BY, Murga-Zamalloa C, McIntyre JC, Marek J, Lopez I, Hackett AN, Zhang J, Brooks M, den Hollander AI, Beales PL, Li T, et al. Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. The Journal of Clinical Investigation. 122: 1233-45. PMID 22446187 DOI: 10.1172/Jci60981 |
0.378 |
|
| 2012 |
Coon BG, Hernandez V, Madhivanan K, Mukherjee D, Hanna CB, Barinaga-Rementeria Ramirez I, Lowe M, Beales PL, Aguilar RC. The Lowe syndrome protein OCRL1 is involved in primary cilia assembly. Human Molecular Genetics. 21: 1835-47. PMID 22228094 DOI: 10.1186/2046-2530-1-S1-P87 |
0.388 |
|
| 2012 |
Perrault I, Saunier S, Hanein S, Filhol E, Bizet A, Collins F, Salih M, Silva E, Baudouin V, Oud M, Shannon N, Le Merrer M, Pietrement C, Beales P, Arts H, et al. Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene Cilia. 1. DOI: 10.1186/2046-2530-1-S1-O28 |
0.303 |
|
| 2011 |
Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joyé N, ... ... Beales PL, et al. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nature Genetics. 43: 601-6. PMID 21552264 DOI: 10.1038/Ng.826 |
0.309 |
|
| 2011 |
Rooryck C, Diaz-Font A, Osborn DPS, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, Leal GF, Dallapiccola B, Carnevale F, Bitner-Glindzicz M, Lees M, ... ... Beales PL, et al. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome Nature Genetics. 43: 197-203. PMID 21258343 DOI: 10.1038/ng.757 |
0.378 |
|
| 2011 |
Rix S, Calmont A, Scambler PJ, Beales PL. An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia Human Molecular Genetics. 20: 1306-1314. PMID 21227999 DOI: 10.1093/hmg/ddr013 |
0.317 |
|
| 2011 |
Waters AM, Beales PL. Ciliopathies: an expanding disease spectrum. Pediatric Nephrology (Berlin, Germany). 26: 1039-56. PMID 21210154 DOI: 10.1007/s00467-010-1731-7 |
0.351 |
|
| 2010 |
May-Simera HL, Kai M, Hernandez V, Osborn DP, Tada M, Beales PL. Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish. Developmental Biology. 345: 215-25. PMID 20643117 DOI: 10.1016/j.ydbio.2010.07.013 |
0.368 |
|
| 2009 |
de Pontual L, Zaghloul NA, Thomas S, Davis EE, McGaughey DM, Dollfus H, Baumann C, Bessling SL, Babarit C, Pelet A, Gascue C, Beales P, Munnich A, Lyonnet S, Etchevers H, et al. Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proceedings of the National Academy of Sciences of the United States of America. 106: 13921-6. PMID 19666486 DOI: 10.1073/Pnas.0901219106 |
0.329 |
|
| 2009 |
Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, ... ... Beales PL, et al. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nature Genetics. 41: 739-45. PMID 19430481 DOI: 10.1038/Ng.366 |
0.317 |
|
| 2009 |
May-Simera HL, Ross A, Rix S, Forge A, Beales PL, Jagger DJ. Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions. The Journal of Comparative Neurology. 514: 174-88. PMID 19396898 DOI: 10.1002/Cne.22001 |
0.526 |
|
| 2008 |
Diaz-Font A, Beales PL. How to shape cells and influence polarized protein trafficking. Developmental Cell. 15: 799-800. PMID 19081069 DOI: 10.1016/j.devcel.2008.11.012 |
0.348 |
|
| 2008 |
Tobin JL, Di Franco M, Eichers E, May-Simera H, Garcia M, Yan J, Quinlan R, Justice MJ, Hennekam RC, Briscoe J, Tada M, Mayor R, Burns AJ, Lupski JR, Hammond P, ... Beales PL, et al. Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. Proceedings of the National Academy of Sciences of the United States of America. 105: 6714-9. PMID 18443298 DOI: 10.1073/Pnas.0707057105 |
0.338 |
|
| 2008 |
Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Al-Fadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nature Genetics. 40: 443-8. PMID 18327255 DOI: 10.1038/ng.97 |
0.363 |
|
| 2008 |
Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Al-Fadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N. Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome (Nature Genetics (2008) 40, (443-448)) Nature Genetics. 40: 927. DOI: 10.1038/ng0708-927b |
0.326 |
|
| 2007 |
Tan PL, Barr T, Inglis PN, Mitsuma N, Huang SM, Garcia-Gonzalez MA, Bradley BA, Coforio S, Albrecht PJ, Watnick T, Germino GG, Beales PL, Caterina MJ, Leroux MR, Rice FL, et al. Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function. Proceedings of the National Academy of Sciences of the United States of America. 104: 17524-9. PMID 17959775 DOI: 10.1073/Pnas.0706618104 |
0.327 |
|
| 2006 |
Eichers ER, Abd-El-Barr MM, Paylor R, Lewis RA, Bi W, Lin X, Meehan TP, Stockton DW, Wu SM, Lindsay E, Justice MJ, Beales PL, Katsanis N, Lupski JR. Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. Human Genetics. 120: 211-26. PMID 16794820 DOI: 10.1007/S00439-006-0197-Y |
0.305 |
|
| 2006 |
Badano JL, Mitsuma N, Beales PL, Katsanis N. The ciliopathies: An emerging class of human genetic disorders Annual Review of Genomics and Human Genetics. 7: 125-148. PMID 16722803 DOI: 10.1146/annurev.genom.7.080505.115610 |
0.376 |
|
| 2006 |
Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, ... ... Beales PL, et al. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nature Genetics. 38: 521-4. PMID 16582908 DOI: 10.1038/Ng1771 |
0.324 |
|
| 2006 |
Badano JL, Leitch CC, Ansley SJ, May-Simera H, Lawson S, Lewis RA, Beales PL, Dietz HC, Fisher S, Katsanis N. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature. 439: 326-30. PMID 16327777 DOI: 10.1038/Nature04370 |
0.301 |
|
| 2005 |
Ross AJ, May-Simera H, Eichers ER, Kai M, Hill J, Jagger DJ, Leitch CC, Chapple JP, Munro PM, Fisher S, Tan PL, Phillips HM, Leroux MR, Henderson DJ, Murdoch JN, ... ... Beales PL, et al. Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nature Genetics. 37: 1135-40. PMID 16170314 DOI: 10.1038/Ng1644 |
0.553 |
|
| 2005 |
Beales PL. Lifting the lid on Pandora's box: The Bardet-Biedl syndrome Current Opinion in Genetics and Development. 15: 315-323. PMID 15917208 DOI: 10.1016/j.gde.2005.04.006 |
0.301 |
|
| 2005 |
Kim JC, Ou YY, Badano JL, Esmail MA, Leitch CC, Fiedrich E, Beales PL, Archibald JM, Katsanis N, Rattner JB, Leroux MR. MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. Journal of Cell Science. 118: 1007-20. PMID 15731008 DOI: 10.1242/Jcs.01676 |
0.377 |
|
| 2005 |
Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, ... ... Beales P, et al. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nature Genetics. 37: 282-8. PMID 15723066 DOI: 10.1038/Ng1520 |
0.308 |
|
| 2005 |
Ross AJ, May-Simera H, Eichers ER, Kai M, Hill J, Jagger DJ, Leitch CC, Chapple JP, Munro PM, Fisher S, Tan PL, Phillips HM, Leroux MR, Henderson DJ, Murdoch JN, ... ... Beales PL, et al. Erratum: Corrigendum: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates Nature Genetics. 37: 1381-1381. DOI: 10.1038/Ng1205-1381B |
0.522 |
|
| 2004 |
Kulaga HM, Leitch CC, Eichers ER, Badano JL, Lesemann A, Hoskins BE, Lupski JR, Beales PL, Reed RR, Katsanis N. Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nature Genetics. 36: 994-8. PMID 15322545 DOI: 10.1038/Ng1418 |
0.399 |
|
| 2004 |
Fan Y, Esmail MA, Ansley SJ, Blacque OE, Boroevich K, Ross AJ, Moore SJ, Badano JL, May-Simera H, Compton DS, Green JS, Lewis RA, van Haelst MM, Parfrey PS, Baillie DL, ... Beales PL, et al. Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Nature Genetics. 36: 989-93. PMID 15314642 DOI: 10.1038/Ng1414 |
0.35 |
|
| 2004 |
Blacque OE, Reardon MJ, Li C, McCarthy J, Mahjoub MR, Ansley SJ, Badano JL, Mah AK, Beales PL, Davidson WS, Johnsen RC, Audeh M, Plasterk RH, Baillie DL, Katsanis N, et al. Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes & Development. 18: 1630-42. PMID 15231740 DOI: 10.1101/Gad.1194004 |
0.349 |
|
| 2004 |
Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, Ansley SJ, Ross AJ, Leroux MR, Katsanis N, Beales PL. The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Nature Genetics. 36: 462-70. PMID 15107855 DOI: 10.1038/ng1352 |
0.378 |
|
| 2003 |
Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, ... Beales PL, et al. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature. 425: 628-33. PMID 14520415 DOI: 10.1038/nature02030 |
0.428 |
|
| 2002 |
Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. American Journal of Human Genetics. 71: 22-9. PMID 12016587 DOI: 10.1086/341031 |
0.306 |
|
| 2002 |
Katsanis N, Lupski JR, Beales PL. Exploring the molecular basis of Bardet-Biedl syndrome. Human Molecular Genetics. 10: 2293-9. PMID 11673413 DOI: 10.1093/HMG/10.20.2293 |
0.305 |
|
| 2001 |
Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder Science. 293: 2256-2259. PMID 11567139 DOI: 10.1126/Science.1063525 |
0.319 |
|
| 2001 |
Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, Woods MO, Green JS, Parfrey PS, Davidson WS, Lupski JR. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. American Journal of Human Genetics. 68: 606-16. PMID 11179009 DOI: 10.1086/318794 |
0.313 |
|
| 2000 |
Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nature Genetics. 26: 67-70. PMID 10973251 DOI: 10.1038/79201 |
0.33 |
|
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