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Phillip Beales - Publications

Affiliations: 
University College London, London, United Kingdom 
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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
Low-probability matches (unlikely to be authored by this person)
2017 Munye MM, Diaz-Font A, Ocaka L, Henriksen ML, Lees M, Brady A, Jenkins D, Morton J, Hansen SW, Bacchelli C, Beales PL, Hernandez-Hernandez V. COLEC10 is mutated in 3MC patients and regulates early craniofacial development. Plos Genetics. 13: e1006679. PMID 28301481 DOI: 10.1371/journal.pgen.1006679  0.297
2016 Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, ... ... Beales PL, et al. Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. Plos One. 11: e0153757. PMID 27124303 DOI: 10.1371/Journal.Pone.0153757  0.297
2013 Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, ... ... Beales PL, et al. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. American Journal of Human Genetics. 93: 915-25. PMID 24140113 DOI: 10.1016/J.Ajhg.2013.09.012  0.296
2008 Cannon PS, Clayton-Smith J, Beales PL, Lloyd IC. Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation. Ophthalmic Genetics. 29: 128-32. PMID 18766993 DOI: 10.1080/13816810802216464  0.295
2012 Mitchison HM, Schmidts M, Loges NT, Freshour J, Dritsoula A, Hirst RA, O'Callaghan C, Blau H, Al Dabbagh M, Olbrich H, Beales PL, Yagi T, Mussaffi H, Chung EM, Omran H, et al. Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Nature Genetics. 44: 381-9, S1-2. PMID 22387996 DOI: 10.1038/ng.1106  0.294
2007 Tobin JL, Beales PL. Bardet-Biedl syndrome: beyond the cilium. Pediatric Nephrology (Berlin, Germany). 22: 926-36. PMID 17357787 DOI: 10.1007/s00467-007-0435-0  0.294
2014 Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, ... ... Beales PL, et al. Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. Nature Genetics. 46: 70-6. PMID 24241535 DOI: 10.1038/ng.2829  0.293
2014 Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A, Stupka E, Buck A, Wolf S, Beales PL, Jacques TS, Bitner-Glindzicz M, Liasis A, Lehmann OJ, et al. Mutation of SALL2 causes recessive ocular coloboma in humans and mice. Human Molecular Genetics. 23: 2511-26. PMID 24412933 DOI: 10.1093/Hmg/Ddt643  0.287
2007 de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin JL, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, et al. Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease. Human Mutation. 28: 790-6. PMID 17397038 DOI: 10.1002/Humu.20517  0.286
2013 Schmidts M, Vodopiutz J, Christou-Savina S, Cortés CR, McInerney-Leo AM, Emes RD, Arts HH, Tüysüz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, ... ... Beales PL, et al. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics. 93: 932-44. PMID 24183451 DOI: 10.1016/J.Ajhg.2013.10.003  0.285
2013 Mahmood F, Mozere M, Zdebik AA, Stanescu HC, Tobin J, Beales PL, Kleta R, Bockenhauer D, Russell C. Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome. Disease Models & Mechanisms. 6: 652-60. PMID 23471908 DOI: 10.1242/dmm.009480  0.285
2015 Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, ... ... Beales PL, et al. The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. Journal of Medical Genetics. 52: 147-56. PMID 25564561 DOI: 10.1136/Jmedgenet-2014-102691  0.285
2004 Li JB, Gerdes JM, Haycraft CJ, Fan Y, Teslovich TM, May-Simera H, Li H, Blacque OE, Li L, Leitch CC, Lewis RA, Green JS, Parfrey PS, Leroux MR, Davidson WS, ... Beales PL, et al. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell. 117: 541-52. PMID 15137946 DOI: 10.1016/S0092-8674(04)00450-7  0.284
2013 Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, ... ... Beales PL, et al. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. Journal of Medical Genetics. 50: 309-23. PMID 23456818 DOI: 10.1136/Jmedgenet-2012-101284  0.283
2008 Goldstone AP, Beales PL. Genetic obesity syndromes. Frontiers of Hormone Research. 36: 37-60. PMID 18230893 DOI: 10.1159/0000115336  0.281
2012 Beales P, Jackson PK. Cilia - the prodigal organelle. Cilia. 1: 1. PMID 23351984 DOI: 10.1186/2046-2530-1-1  0.281
2011 Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, ... ... Beales PL, et al. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature Genetics. 43: 189-96. PMID 21258341 DOI: 10.1038/Ng.756  0.279
2010 Harville HM, Held S, Diaz-Font A, Davis EE, Diplas BH, Lewis RA, Borochowitz ZU, Zhou W, Chaki M, MacDonald J, Kayserili H, Beales PL, Katsanis N, Otto E, Hildebrandt F. Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. Journal of Medical Genetics. 47: 262-7. PMID 19797195 DOI: 10.1136/Jmg.2009.071365  0.279
2016 Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TT, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, ... ... Beales PL, et al. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nature Communications. 7: 11491. PMID 27173435 DOI: 10.1038/ncomms11491  0.278
2014 Osborn DP, Roccasecca RM, McMurray F, Hernandez-Hernandez V, Mukherjee S, Barroso I, Stemple D, Cox R, Beales PL, Christou-Savina S. Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies. Plos One. 9: e87662. PMID 24503721 DOI: 10.1371/journal.pone.0087662  0.277
2003 Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. American Journal of Human Genetics. 72: 1187-99. PMID 12677556 DOI: 10.1086/375178  0.276
2011 Pereiro I, Hoskins BE, Marshall JD, Collin GB, Naggert JK, Pĩeiro-Gallego T, Oitmaa E, Katsanis N, Valverde D, Beales PL. Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome European Journal of Human Genetics. 19: 485-488. PMID 21157496 DOI: 10.1038/ejhg.2010.207  0.275
2007 Gerdes JM, Liu Y, Zaghloul NA, Leitch CC, Lawson SS, Kato M, Beachy PA, Beales PL, DeMartino GN, Fisher S, Badano JL, Katsanis N. Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nature Genetics. 39: 1350-60. PMID 17906624 DOI: 10.1038/Ng.2007.12  0.272
2003 Badano JL, Kim JC, Hoskins BE, Lewis RA, Ansley SJ, Cutler DJ, Castellan C, Beales PL, Leroux MR, Katsanis N. Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Human Molecular Genetics. 12: 1651-9. PMID 12837689 DOI: 10.1093/Hmg/Ddg188  0.272
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. Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus Nature Genetics. 38: 727-727. DOI: 10.1038/Ng0606-721  0.271
2007 Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, et al. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nature Genetics. 39: 727-9. PMID 17468754 DOI: 10.1038/Ng2038  0.268
2019 van Dam TJP, Kennedy J, van der Lee R, de Vrieze E, Wunderlich KA, Rix S, Dougherty GW, Lambacher NJ, Li C, Jensen VL, Leroux MR, Hjeij R, Horn N, Texier Y, Wissinger Y, ... ... Beales PL, et al. CiliaCarta: An integrated and validated compendium of ciliary genes. Plos One. 14: e0216705. PMID 31095607 DOI: 10.1371/Journal.Pone.0216705  0.268
2013 Cardenas-rodriguez M, Irigoín F, Osborn DPS, Gascue C, Katsanis N, Beales PL, Badano JL. The bardet-biedl syndrome-related protein CCDC28b modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex Human Molecular Genetics. 22: 4031-4042. PMID 23727834 DOI: 10.1093/hmg/ddt253  0.268
2015 Williams HJ, Hurst JR, Ocaka L, James C, Pao C, Chanudet E, Lescai F, Stanescu HC, Kleta R, Rosser E, Bacchelli C, Beales P. The use of whole-exome sequencing to disentangle complex phenotypes. European Journal of Human Genetics : Ejhg. PMID 26059842 DOI: 10.1038/ejhg.2015.121  0.265
2005 Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, Stefanelli M, Murphy C, Cramer BC, Dean JC, Beales PL, Katsanis N, Bassett AS, Davidson WS, Parfrey PS. Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. American Journal of Medical Genetics. Part A. 132: 352-60. PMID 15637713 DOI: 10.1002/Ajmg.A.30406  0.265
2002 Becker K, Beales PL, Calver DM, Matthijs G, Mohammed SN. Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families. Journal of Medical Genetics. 39: 68-71. PMID 11826030 DOI: 10.1136/jmg.39.1.68  0.265
2010 Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, et al. Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. American Journal of Human Genetics. 86: 949-56. PMID 20493458 DOI: 10.1016/J.Ajhg.2010.04.012  0.263
2016 Josifova DJ, Monroe GR, Tessadori F, de Graaff E, van der Zwaag B, Mehta SG, Harakalova M, Duran KJ, Savelberg SM, Nijman IJ, Jungbluth H, Hoogenraad CC, Bakkers J, Knoers NV, ... ... Beales PL, et al. Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity. Human Molecular Genetics. PMID 27005418 DOI: 10.1093/hmg/ddw082  0.258
2002 Barnett S, Reilly S, Carr L, Ojo I, Beales PL, Charman T. Behavioural phenotype of Bardet-Biedl syndrome. Journal of Medical Genetics. 39: e76. PMID 12471214 DOI: 10.1136/jmg.39.12.e76  0.258
2013 Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, Lescai F, Andoniadou CL, Banyan A, Alsawaid A, Alrifai MT, Alahmesh MA, Balwi M, Mousavy-Gharavy SN, Lukovic B, Burke D, ... ... Beales PL, et al. ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. Brain : a Journal of Neurology. 136: 3096-105. PMID 24022475 DOI: 10.1093/brain/awt218  0.256
2009 Pearson CG, Osborn DP, Giddings TH, Beales PL, Winey M. Basal body stability and ciliogenesis requires the conserved component Poc1. The Journal of Cell Biology. 187: 905-20. PMID 20008567 DOI: 10.1083/Jcb.200908019  0.254
2008 Quinlan RJ, Tobin JL, Beales PL. Modeling ciliopathies: Primary cilia in development and disease. Current Topics in Developmental Biology. 84: 249-310. PMID 19186246 DOI: 10.1016/S0070-2153(08)00605-4  0.253
2015 Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, Superti-Furga A, Mitchison HM, Almoisheer A, Alamro R, Alshiddi T, Alzahrani F, Beales PL, Alkuraya FS. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Human Molecular Genetics. 24: 1410-9. PMID 25361962 DOI: 10.1093/hmg/ddu555  0.252
2015 Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, Superti-Furga A, Mitchison HM, Almoisheer A, Alamro R, Alshiddi T, Alzahrani F, Beales PL, Alkuraya FS. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies Human Molecular Genetics. 24: 1410-1419. DOI: 10.1093/hmg/ddu555  0.252
2019 Haq N, Schmidt-Hieber C, Sialana FJ, Ciani L, Heller JP, Stewart M, Bentley L, Wells S, Rodenburg RJ, Nolan PM, Forsythe E, Wu MC, Lubec G, Salinas P, Häusser M, ... Beales PL, et al. Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons. Plos Biology. 17: e3000414. PMID 31479441 DOI: 10.1371/Journal.Pbio.3000414  0.249
2009 Tobin JL, Beales PL. The nonmotile ciliopathies. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 11: 386-402. PMID 19421068 DOI: 10.1097/GIM.0b013e3181a02882  0.249
2011 Slavotinek A, Beales P. Clinical utility gene card for: Bardet-Biedl syndrome European Journal of Human Genetics. 19. PMID 21150877 DOI: 10.1038/ejhg.2010.199  0.248
2018 Mujahid S, Hunt KF, Cheah YS, Forsythe E, Hazlehurst JM, Sparks K, Mohammed S, Tomlinson JW, Amiel SA, Carroll PV, Beales PL, Huda MSB, McGowan BM. The Endocrine and Metabolic Characteristics of a large Bardet-Biedl syndrome clinic population. The Journal of Clinical Endocrinology and Metabolism. PMID 29409041 DOI: 10.1210/jc.2017-01459  0.239
2011 Janssen S, Ramaswami G, Davis EE, Hurd T, Airik R, Kasanuki JM, Van Der Kraak L, Allen SJ, Beales PL, Katsanis N, Otto EA, Hildebrandt F. Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals Human Genetics. 129: 79-90. PMID 21052717 DOI: 10.1007/s00439-010-0902-8  0.237
2015 Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, ... ... Beales PL, et al. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature Communications. 6: 7074. PMID 26044572 DOI: 10.1038/Ncomms8074  0.236
2016 Forsythe E, Sparks K, Best S, Borrows S, Hoskins B, Sabir A, Barrett T, Williams D, Mohammed S, Goldsmith D, Milford DV, Bockenhauer D, Foggensteiner L, Beales PL. Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. Journal of the American Society of Nephrology : Jasn. PMID 27659767 DOI: 10.1681/ASN.2015091029  0.233
2019 Haq N, Schmidt-Hieber C, Sialana FJ, Ciani L, Heller JP, Stewart M, Bentley L, Wells S, Rodenburg RJ, Nolan PM, Forsythe E, Wu MC, Lubec G, Salinas PC, Häusser M, ... Beales PL, et al. Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons. Plos Biology. 17: e3000520. PMID 31593567 DOI: 10.1371/Journal.Pbio.3000520  0.23
2013 Sousa SB, Venâncio M, Chanudet E, Palmer R, Ramos L, Beales PL, Moore GE, Saraiva JM, Hennekam RC. Intellectual disability, unusual facial morphology and hand anomalies in sibs. American Journal of Medical Genetics. Part A. 161: 2401-6. PMID 23949889 DOI: 10.1002/ajmg.a.36124  0.228
2008 Tobin JL, Beales PL. Restoration of renal function in zebrafish models of ciliopathies. Pediatric Nephrology (Berlin, Germany). 23: 2095-9. PMID 18604564 DOI: 10.1007/s00467-008-0898-7  0.224
2013 Beales P. Cell tails: The tale has only just begun New Scientist. 220: 6-7. DOI: 10.1016/S0262-4079(13)62547-6  0.223
1997 Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA. Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. Journal of Medical Genetics. 34: 92-8. PMID 9039982 DOI: 10.1136/jmg.34.2.92  0.222
2009 Baker K, Beales PL. Making sense of cilia in disease: the human ciliopathies. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 151: 281-95. PMID 19876933 DOI: 10.1002/ajmg.c.30231  0.222
2015 Forsythe E, Sparks K, Hoskins BE, Bagkeris E, McGowan BM, Carroll PV, Huda MS, Mujahid S, Peters C, Barrett T, Mohammed S, Beales PL. Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome. Clinical Genetics. 87: 343-9. PMID 24611735 DOI: 10.1111/cge.12373  0.221
2015 Forsythe E, Sparks K, Hoskins BE, Bagkeris E, Mcgowan BM, Carroll PV, Huda MSB, Mujahid S, Peters C, Barrett T, Mohammed S, Beales PL. Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome Clinical Genetics. 87: 343-349. DOI: 10.1111/cge.12373  0.221
2000 Beales PL, Reid HA, Griffiths MH, Maher ER, Flinter FA, Woolf AS. Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome. Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association. 15: 1977-85. PMID 11096143 DOI: 10.1093/NDT/15.12.1977  0.221
2005 Fan Y, Green JS, Ross AJ, Beales PL, Parfrey PS, Davidson WS. Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet-Biedl syndrome 1 critical interval. Human Genetics. 116: 62-71. PMID 15517396 DOI: 10.1007/S00439-004-1184-9  0.221
2012 Prodromou NV, Thompson CL, Osborn DPS, Cogger KF, Ashworth R, Knight MM, Beales PL, Chapple JP. Heat shock induces rapid resorption of primary cilia Journal of Cell Science. 125: 4297-4305. PMID 22718348 DOI: 10.1242/jcs.100545  0.215
2013 Beales P. Cell tails: A cause of common diseases? New Scientist. 220: 8. DOI: 10.1016/S0262-4079(13)62548-8  0.214
1999 Katsanis N, Lewis RA, Stockton DW, Mai PM, Baird L, Beales PL, Leppert M, Lupski JR. Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. American Journal of Human Genetics. 65: 1672-9. PMID 10577921 DOI: 10.1086/302684  0.202
2019 Seda M, Geerlings M, Lim P, Jeyabalan-Srikaran J, Cichon AC, Scambler PJ, Beales PL, Hernandez-Hernandez V, Stoker AW, Jenkins D. An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis. Molecular Syndromology. 10: 98-114. PMID 30976283 DOI: 10.1159/000491567  0.197
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. Erratum: Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus Nature Genetics. 38: 727-727. DOI: 10.1038/Ng0606-727  0.193
2017 Kenny J, Forsythe E, Beales P, Bacchelli C. Toward personalized medicine in Bardet-Biedl syndrome. Personalized Medicine. 14: 447-456. PMID 29754569 DOI: 10.2217/pme-2017-0019  0.192
2017 Kilpinen H, Goncalves A, Leha A, Afzal V, Alasoo K, Ashford S, Bala S, Bensaddek D, Casale FP, Culley OJ, Danecek P, Faulconbridge A, Harrison PW, Kathuria A, McCarthy D, ... ... Beales P, et al. Common genetic variation drives molecular heterogeneity in human iPSCs. Nature. PMID 28489815 DOI: 10.1038/Nature22403  0.192
2006 Beales PL. Hedgehogs on the road to polarity Nature Genetics. 38: 277-279. PMID 16501556 DOI: 10.1038/ng0306-277  0.189
2014 Sousa SB, Ramos F, Garcia P, Pais RP, Paiva C, Beales PL, Moore GE, Saraiva JM, Hennekam RC. Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters. American Journal of Medical Genetics. Part A. 164: 10-4. PMID 24501761 DOI: 10.1002/ajmg.a.36235  0.185
2017 Thompson CL, Plant JC, Wann AK, Bishop CL, Novak P, Mitchison HM, Beales PL, Chapple JP, Knight MM. Chondrocyte expansion is associated with loss of primary cilia and disrupted hedgehog signalling. European Cells & Materials. 34: 128-141. PMID 28929469 DOI: 10.22203/Ecm.V034A09  0.184
2016 Melhem M, Abu-Farha M, Antony D, Madhoun AA, Bacchelli C, Alkayal F, AlKhairi I, John S, Alomari M, Beales PL, Alsmadi O. Novel G6B gene variant cause familial autosomal recessive thrombocytopenia and anemia. European Journal of Haematology. PMID 27743390 DOI: 10.1111/Ejh.12819  0.18
2012 Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, KasperavičiÅ«tÄ— D, Williams J, Harold D, Hardy J, Kleta R, Cirak S, Williams R, Achermann JC, Anderson J, ... ... Beales P, et al. Characterisation and validation of insertions and deletions in 173 patient exomes. Plos One. 7: e51292. PMID 23251486 DOI: 10.1371/Journal.Pone.0051292  0.18
1997 Beales PL, Kopelman PG. Obesity genes. Clinical Endocrinology. 45: 373-8. PMID 8959072 DOI: 10.1046/j.1365-2265.1996.8260837.x  0.179
2013 Beales P. Cell tails: A surprising number New Scientist. 220: 2-3. DOI: 10.1016/S0262-4079(13)62545-2  0.174
2013 Westhoff JH, Giselbrecht S, Schmidts M, Schindler S, Beales PL, Tönshoff B, Liebel U, Gehrig J. Development of an automated imaging pipeline for the analysis of the zebrafish larval kidney Plos One. 8. PMID 24324758 DOI: 10.1371/journal.pone.0082137  0.172
2014 Denniston AK, Beales PL, Tomlins PJ, Good P, Langford M, Foggensteiner L, Williams D, Tsaloumas MD. Evaluation of visual function and needs in adult patients with Bardet-Biedl syndrome Retina. 34: 2282-2289. PMID 25170860 DOI: 10.1097/IAE.0000000000000222  0.171
2018 Stokman MF, van der Zwaag B, van de Kar NCAJ, van Haelst MM, van Eerde AM, van der Heijden JW, Kroes HY, Ippel E, Schulp AJA, van Gassen KL, van Rooij IALM, Giles RH, Beales PL, Roepman R, Arts HH, et al. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy. Pediatric Nephrology (Berlin, Germany). PMID 29974258 DOI: 10.1007/s00467-018-3958-7  0.164
2010 Beales PL. Obesity in single gene disorders. Progress in Molecular Biology and Translational Science. 94: 125-157. PMID 21036324  0.164
2012 Selman L, Henriksen ML, Brandt J, Palarasah Y, Waters A, Beales PL, Holmskov U, Jørgensen TJ, Nielsen C, Skjodt K, Hansen S. An enzyme-linked immunosorbent assay (ELISA) for quantification of human collectin 11 (CL-11, CL-K1). Journal of Immunological Methods. 375: 182-8. PMID 22301270 DOI: 10.1016/j.jim.2011.10.010  0.162
2010 Van Haelst MM, Wang R, Kantaputra PN, Palmer R, Beales P. Corrigendum to obesity syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 duplication) (American Journal of Medical Genetics Part A (2009) 149, 4, (833-834)) American Journal of Medical Genetics, Part A. 152: 1874. DOI: 10.1002/ajmg.a.33333  0.162
2004 Hoskins BE, Thorn A, Scambler PJ, Beales PL. Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. Human Mutation. 22: 151-7. PMID 12872256 DOI: 10.1002/HUMU.10241  0.162
2015 Christou-Savina S, Beales PL, Osborn DPS. Evaluation of Zebrafish kidney function using a fluorescent clearance assay Journal of Visualized Experiments. PMID 25742415 DOI: 10.3791/52540  0.158
2018 Renkema KY, Giles RH, Lilien MR, Beales PL, Roepman R, Oud MM, Arts HH, Knoers NVAM. The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis. Frontiers in Pediatrics. 6: 131. PMID 29868523 DOI: 10.3389/fped.2018.00131  0.158
2018 Piper CJM, Wilkinson MGL, Deakin CT, Otto GW, Dowle S, Duurland CL, Adams S, Marasco E, Rosser EC, Radziszewska A, Carsetti R, Ioannou Y, Beales PL, Kelberman D, Isenberg DA, et al. CD19CD24CD38 B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor 7 and Interferon-α. Frontiers in Immunology. 9: 1372. PMID 29988398 DOI: 10.3389/Fimmu.2018.01372  0.156
2009 van Haelst MM, Wang R, Kantaputra PN, Palmer R, Beales P. Obesity syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 dup). American Journal of Medical Genetics. Part A. 149: 833-4. PMID 19288561 DOI: 10.1002/ajmg.a.32722  0.156
2011 Baker K, Northam GB, Chong WK, Banks T, Beales P, Baldeweg T. Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome. American Journal of Medical Genetics. Part A. 155: 1-8. PMID 21204204 DOI: 10.1002/ajmg.a.33773  0.154
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 (Journal of Clinical Investigation (2012) 122, 4, (1233-1245) DOI: 10.1172/JCI60981) Journal of Clinical Investigation. 122: 3025. DOI: 10.1172/Jci65432  0.15
2016 Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, ... ... Beales PL, et al. Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature Communications. 7: 11270. PMID 27021811 DOI: 10.1038/ncomms11270  0.141
2014 Jenkins D, Beales PL. Genes and Mechanisms in Human Ciliopathies Reference Module in Biomedical Research. DOI: 10.1016/B978-0-12-801238-3.05636-1  0.134
2013 Jenkins D, Beales PL. Genes and mechanisms in human ciliopathies Emery and Rimoin's Principles and Practice of Medical Genetics. 1-36. DOI: 10.1016/B978-0-12-383834-6.00174-9  0.134
2014 Gerdes JM, Christou-Savina S, Xiong Y, Moede T, Moruzzi N, Karlsson-Edlund P, Leibiger B, Leibiger IB, Östenson CG, Beales PL, Berggren PO. Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents. Nature Communications. 5: 5308. PMID 25374274 DOI: 10.1038/ncomms6308  0.131
2011 Beales PA, Bergstrom CL, Geerts N, Groves JT, Vanderlick TK. Single vesicle observations of the cardiolipin-cytochrome C interaction: induction of membrane morphology changes. Langmuir : the Acs Journal of Surfaces and Colloids. 27: 6107-15. PMID 21504165 DOI: 10.1021/La104924C  0.13
2014 Goodchild SC, Sheynis T, Thompson R, Tipping KW, Xue WF, Ranson NA, Beales PA, Hewitt EW, Radford SE. β2-Microglobulin amyloid fibril-induced membrane disruption is enhanced by endosomal lipids and acidic pH. Plos One. 9: e104492. PMID 25100247 DOI: 10.1371/journal.pone.0104492  0.12
2014 Mujahid S, Huda MS, Beales P, Carroll PV, McGowan BM. Adjustable gastric banding and sleeve gastrectomy in Bardet-Biedl syndrome. Obesity Surgery. 24: 1746-8. PMID 25070484 DOI: 10.1007/s11695-014-1379-7  0.116
2014 Mujahid S, Huda MSB, Beales P, Carroll PV, McGowan BM. Adjustable Gastric Banding and Sleeve Gastrectomy in Bardet-Biedl Syndrome Obesity Surgery. DOI: 10.1007/s11695-014-1379-7  0.116
2015 Mujahid S, Huda MS, Beales P, Carroll PV, McGowan BM. Erratum to: Adjustable gastric banding and sleeve gastrectomy in Bardet-Biedl syndrome. Obesity Surgery. 25: 585. PMID 25573457 DOI: 10.1007/s11695-014-1545-y  0.116
2014 Kammermeier J, Drury S, James CT, Dziubak R, Ocaka L, Elawad M, Beales P, Lench N, Uhlig HH, Bacchelli C, Shah N. Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis. Journal of Medical Genetics. 51: 748-55. PMID 25194001 DOI: 10.1136/jmedgenet-2014-102624  0.112
2007 Coutinho-Silva R, Robson T, Beales PE, Burnstock G. Changes in expression of P2X7 receptors in NOD mouse pancreas during the development of diabetes. Autoimmunity. 40: 108-16. PMID 17364502 DOI: 10.1080/08916930601118841  0.112
2013 Bergstrom CL, Beales PA, Lv Y, Vanderlick TK, Groves JT. Cytochrome c causes pore formation in cardiolipin-containing membranes. Proceedings of the National Academy of Sciences of the United States of America. 110: 6269-74. PMID 23576757 DOI: 10.1073/pnas.1303819110  0.11
2014 Lescai F, Marasco E, Bacchelli C, Stanier P, Mantovani V, Beales P. Identification and validation of loss of function variants in clinical contexts. Molecular Genetics & Genomic Medicine. 2: 58-63. PMID 24498629 DOI: 10.1002/mgg3.42  0.106
2015 Leite NB, Aufderhorst-Roberts A, Palma MS, Connell SD, Ruggiero Neto J, Beales PA. PE and PS Lipids Synergistically Enhance Membrane Poration by a Peptide with Anticancer Properties. Biophysical Journal. 109: 936-47. PMID 26331251 DOI: 10.1016/j.bpj.2015.07.033  0.106
2013 Geerts N, Schreck CF, Beales PA, Shigematsu H, O'Hern CS, Vanderlick TK. Using DNA-driven assembled phospholipid nanodiscs as a scaffold for gold nanoparticle patterning Langmuir. 29: 13089-13094. PMID 24073728 DOI: 10.1021/la403091w  0.103
2014 Baker K, Beales PL. Abnormalities of the central nervous system across the ciliopathy spectrum Cilia and Nervous System Development and Function. 229-273. DOI: 10.1007/978-94-007-5808-7_9  0.103
2014 Gerdes JM, Christou-Savina S, Xiong Y, Moede T, Moruzzi N, Karlsson-Edlund P, Leibiger B, Leibiger IB, Östenson CG, Beales PL, Berggren PO. Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents Nature Communications. 5. DOI: 10.1038/ncomms6308  0.097
2013 Xu J, Vanderlick TK, Beales PA. Lytic and Non-Lytic Permeabilization of Cardiolipin-Containing Lipid Bilayers Induced by Cytochrome c Plos One. 8. PMID 23894494 DOI: 10.1371/Journal.Pone.0069492  0.095
2011 Nam J, Beales PA, Vanderlick TK. Giant phospholipid/block copolymer hybrid vesicles: mixing behavior and domain formation. Langmuir : the Acs Journal of Surfaces and Colloids. 27: 1-6. PMID 21133340 DOI: 10.1021/La103428G  0.092
2013 Beales P. Cell tails: Lines of communication New Scientist. 220: 4-5. DOI: 10.1016/S0262-4079(13)62546-4  0.092
2011 Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, ... ... Beales PL, et al. Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum Nature Genetics. 43: 499-499. DOI: 10.1038/Ng0511-499B  0.08
2006 Beales PLPL. Practical genetics series introduction: Information overload, a double-edged sword European Journal of Human Genetics. 14: 889. DOI: 10.1038/sj.ejhg.5201692  0.079
2018 Mestek-Boukhibar L, Clement E, Jones WD, Drury S, Ocaka L, Gagunashvili A, Le Quesne Stabej P, Bacchelli C, Jani N, Rahman S, Jenkins L, Hurst JA, Bitner-Glindzicz M, Peters M, Beales PL, et al. Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children. Journal of Medical Genetics. PMID 30049826 DOI: 10.1136/jmedgenet-2018-105396  0.079
2013 Churchman AH, Wallace R, Milne SJ, Brown AP, Brydson R, Beales PA. Serum albumin enhances the membrane activity of ZnO nanoparticles. Chemical Communications (Cambridge, England). 49: 4172-4. PMID 23321926 DOI: 10.1039/c3cc37871c  0.077
2012 Nam J, Vanderlick TK, Beales PA. Formation and dissolution of phospholipid domains with varying textures in hybrid lipo-polymersomes Soft Matter. 8: 7982-7988. DOI: 10.1039/C2Sm25646K  0.077
2006 Gordon VD, Beales PA, Zhao Z, Blake C, Mackintosh FC, Olmsted PD, Cates ME, Egelhaaf SU, Poon WC. Lipid organization and the morphology of solid-like domains in phase-separating binary lipid membranes. Journal of Physics. Condensed Matter : An Institute of Physics Journal. 18: L415-20. PMID 21690854 DOI: 10.1088/0953-8984/18/32/L02  0.074
2013 Beales PA, Geerts N, Inampudi KK, Shigematsu H, Wilson CJ, Vanderlick TK. Reversible assembly of stacked membrane nanodiscs with reduced dimensionality and variable periodicity. Journal of the American Chemical Society. 135: 3335-8. PMID 23405911 DOI: 10.1021/Ja311561D  0.074
2009 Grünwald NJ, Goss EM, Ivors K, Garbelotto M, Martin FN, Prospero S, Hansen E, Bonants PJ, Hamelin RC, Chastagner G, Werres S, Rizzo DM, Abad G, Beales P, Bilodeau GJ, et al. Standardizing the nomenclature for clonal lineages of the sudden oak death pathogen, Phytophthora ramorum. Phytopathology. 99: 792-5. PMID 19522576 DOI: 10.1094/Phyto-99-7-0792  0.072
2014 Beales PA, Vanderlick TK. Application of nucleic acid-lipid conjugates for the programmable organisation of liposomal modules Advances in Colloid and Interface Science. 207: 290-305. PMID 24461711 DOI: 10.1016/J.Cis.2013.12.009  0.068
2005 Beales PA, Gordon VD, Zhao Z, Egelhaaf SU, Poon WCK. Solid-like domains in fluid membranes Journal of Physics Condensed Matter. 17: S3341-S3346. DOI: 10.1088/0953-8984/17/45/020  0.067
2004 Beales PA, Schlenzig A, Inman AJ. First report of ramorum bud and leaf blight (Phytophthora ramorum) on Syringa vulgaris in the UK Plant Pathology. 53: 525. DOI: 10.1111/j.1365-3059.2004.01033.x  0.063
2011 Cook RTA, Braun U, Beales PA. Development of appressoria on conidial germ tubes of Erysiphe species Mycoscience. 52: 183-197. DOI: 10.1007/s10267-010-0099-7  0.063
2008 Nam J, Beales PA, Vanderlick TK. Biomimetic membrane properties and the morphology of giant hybrid vesicles with phospholipid/block copolymer coexistence Aiche Annual Meeting, Conference Proceedings.  0.058
2011 Beales PA, Nam J, Vanderlick TK. Specific adhesion between DNA-functionalized "janus" vesicles: Size-limited clusters Soft Matter. 7: 1747-1755. DOI: 10.1039/C0Sm01055C  0.058
2015 Beales PA, Ciani B. Chemical compartmentalisation by membranes: from biological mechanism to biomimetic applications. Physical Chemistry Chemical Physics : Pccp. 17: 15487-8. PMID 26039884 DOI: 10.1039/c5cp90089a  0.057
2015 Beales PA, Ciani B. Chemical compartmentalisation by membranes: From biological mechanism to biomimetic applications Physical Chemistry Chemical Physics. 17: 15487-15488. DOI: 10.1039/c5cp90089a  0.057
2009 Beales PA, Vanderlick TK. DNA as membrane-bound ligand-receptor pairs: duplex stability is tuned by intermembrane forces. Biophysical Journal. 96: 1554-65. PMID 19217872 DOI: 10.1016/J.Bpj.2008.11.027  0.056
2005 Lane CR, Beales PA, O'Neill TM, McPherson GM, Finlay AR, David J, Constantinescu O, Henricot B. First report of Impatiens downy mildew (Plasmopara obducens) in the UK Plant Pathology. 54: 243. DOI: 10.1111/j.1365-3059.2005.01133.x  0.056
2015 Beales PA, Ciani B, Cleasby AJ. Nature's lessons in design: nanomachines to scaffold, remodel and shape membrane compartments. Physical Chemistry Chemical Physics : Pccp. 17: 15489-507. PMID 25805402 DOI: 10.1039/c5cp00480b  0.054
2015 Beales PA, Ciani B, Cleasby AJ. Nature's lessons in design: Nanomachines to scaffold, remodel and shape membrane compartments Physical Chemistry Chemical Physics. 17: 15489-15507. DOI: 10.1039/c5cp00480b  0.054
2006 Cook RTA, Henricot B, Beales P. First report of Neoerysiphe galeopsidis on Acanthus spinosus in the UK Plant Pathology. 55: 575. DOI: 10.1111/j.1365-3059.2006.01412.x  0.053
2014 Gordon VD, Beales PA, Shearman GC, Zhao Z, Seddon JM, Poon WCK, Egelhaaf SU. Solid-Like Domains in Mixed Lipid Bilayers. Effect of Membrane Lamellarity and Transition Pathway Advances in Planar Lipid Bilayers and Liposomes. 20: 137-154. DOI: 10.1016/B978-0-12-418698-9.00005-8  0.052
2006 Cook RTA, Henricot B, Henrici A, Beales P. Morphological and phylogenetic comparisons amongst powdery mildews on Catalpa in the UK Mycological Research. 110: 672-685. PMID 16765033 DOI: 10.1016/j.mycres.2006.02.005  0.05
2007 Beales PA, Vanderlick TK. Specific binding of different vesicle populations by the hybridization of membrane-anchored DNA. The Journal of Physical Chemistry. A. 111: 12372-80. PMID 17997531 DOI: 10.1021/Jp075792Z  0.042
2009 Beales PA, Vanderlick TK. Partitioning of membrane-anchored DNA between coexisting lipid phases. The Journal of Physical Chemistry. B. 113: 13678-86. PMID 19827842 DOI: 10.1021/Jp9006735  0.041
2004 Lane CR, Beales PA, Hughes KJD, Tomlinson JA, Inman AJ, Warwick K. First report of ramorum dieback (Phytophthora ramorum) on container-grown English yew (Taxus baccata) in England Plant Pathology. 53: 522. DOI: 10.1111/j.1365-3059.2004.01022.x  0.04
2009 Beales PA, Giltrap PG, Payne A, Ingram N. A new threat to UK heathland from Phytophthora kernoviae on Vaccinium myrtillus in the wild Plant Pathology. 58: 393. DOI: 10.1111/j.1365-3059.2008.01961.x  0.038
2005 Brasier CM, Beales PA, Kirk SA, Denman S, Rose J. Phytophthora kernoviae sp. nov., an invasive pathogen causing bleeding stem lesions on forest trees and foliar necrosis of ornamentals in the UK Mycological Research. 109: 853-859. PMID 16175787 DOI: 10.1017/S0953756205003357  0.036
2012 Zhang S, Nelson A, Beales PA. Freezing or wrapping: The role of particle size in the mechanism of nanoparticle biomembrane interaction Langmuir. 28: 12831-12837. PMID 22717012 DOI: 10.1021/la301771b  0.034
2013 Beales P, Jackson PK. Our thanks to Cilia's reviewers. Cilia. 2: 4. PMID 23497485 DOI: 10.1186/2046-2530-2-4  0.031
2004 Beales PA, Scrace J, Cook RTA, Barnes AV, Lane CR. First report of honeysuckle leaf blight (Insolibasidium deformans) on honeysuckle (Lonicera spp.) in the UK Plant Pathology. 53: 536. DOI: 10.1111/j.1365-3059.2004.01027.x  0.03
2011 Nam J, Beales PA, Vanderlick TK. Giant phospholipid/block copolymer hybrid vesicles: Mixing behavior and domain formation Langmuir. 27: 1-6. DOI: 10.1021/la103428g  0.03
2006 Beales PA, Lane CR, Barton VC, Giltrap PM. Phytophthora kernoviae on ornamentals in the UK Eppo Bulletin. 36: 377-379. DOI: 10.1111/j.1365-2338.2006.01015.x  0.028
2008 Nam J, Beales PA, Vanderlick TK. Adhesive and mechanical properties of multi-componen block copolymer/phospholipid vesicles assembled via DNA hybridization and receptor-ligand binding Aiche Annual Meeting, Conference Proceedings.  0.027
2004 Beales PA, Brokenshire T, Barnes AV, Barton VC, Hughes KJD. First report of ramorum leaf blight and dieback (Phytophthora ramorum) on Camellia spp. in the UK Plant Pathology. 53: 524. DOI: 10.1111/j.1365-3059.2004.01028.x  0.025
2014 Beales P, Jackson PK. Acknowledgement of Cilia's reviewers in 2013. Cilia. 3: 1. PMID 24457102 DOI: 10.1186/2046-2530-3-1  0.023
2004 Hawa MI, Valorani MG, Buckley LR, Beales PE, Afeltra A, Cacciapaglia F, Leslie RD, Pozzilli P. Lack of effect of vitamin D administration during pregnancy and early life on diabetes incidence in the non-obese diabetic mouse. Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Mã©Tabolisme. 36: 620-4. PMID 15486813 DOI: 10.1055/s-2004-825926  0.019
2006 Lane CR, Beales PA, Henricot B, Holden A. First record of Cylindrocladium pauciramosum on Ceanothus in the UK Plant Pathology. 55: 582. DOI: 10.1111/j.1365-3059.2006.01363.x  0.016
2004 Vatandoost H, Mesdaghinia AR, Zamani G, Madjdzadeh R, Holakouie K, Sadrizadeh B, Atta H, Beales PF. Development of the regional malaria training centre in Bandar-e Abbas, Islamic Republic of Iran Eastern Mediterranean Health Journal. 10: 215-224. PMID 16201730  0.015
2006 Depaquit J, Léger N, Beales P. [Chinius barbazani n. sp. from Thailand (Diptera: Psychodidae)]. Parasite (Paris, France). 13: 151-8. PMID 16800124  0.013
2008 Beales P, Vanderlick TK. Programmable self-assembly of DNA-tethered vesicle superstructures Aiche Annual Meeting, Conference Proceedings.  0.01
2015 Beales P. Out of sigth, out of mind Offshore Engineer. 40: 54-55.  0.01
2011 MacRobert C, Kalumba D, Beales P. Correlating standard penetration test and dynamic probe super heavy penetration resistance values in sandy soils Journal of the South African Institution of Civil Engineering. 53: 46-54.  0.01
2006 Lane CR, Beales PA, Hughes KJD, Tomlinson J, Boonham N. Diagnosis of Phytophthora ramorum - Evaluation of testing methods Eppo Bulletin. 36: 389-392. DOI: 10.1111/j.1365-2338.2006.01017.x  0.01
2004 Ward LI, Beales PA, Barnes AV, Lane CR. A real-time PCR assay based method for routine diagnosis of Spongospora subterranea on potato tubers Journal of Phytopathology. 152: 633-638. DOI: 10.1111/j.1439-0434.2004.00908.x  0.01
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