Phillip Beales - Publications

University College London, London, United Kingdom 

102 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
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  0.56
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  0.56
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  0.56
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  0.56
2015 Huang J, Howie B, McCarthy S, Memari Y, Walter K, Min JL, Danecek P, Malerba G, Trabetti E, Zheng HF, Gambaro G, Richards JB, Durbin R, Timpson NJ, et al. Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nature Communications. 6: 8111. PMID 26368830 DOI: 10.1038/Ncomms9111  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
2013 Beales P. Cell tails: A cause of common diseases? New Scientist. 220: 8. DOI: 10.1016/S0262-4079(13)62548-8  0.56
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  0.56
2012 Beales P, Jackson PK. Cilia - the prodigal organelle. Cilia. 1: 1. PMID 23351984 DOI: 10.1186/2046-2530-1-1  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
2010 Beales PL. Obesity in single gene disorders. Progress in Molecular Biology and Translational Science. 94: 125-157. PMID 21036324  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
2008 Goldstone AP, Beales PL. Genetic obesity syndromes. Frontiers of Hormone Research. 36: 37-60. PMID 18230893 DOI: 10.1159/0000115336  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
2006 Beales PL. Hedgehogs on the road to polarity Nature Genetics. 38: 277-279. PMID 16501556 DOI: 10.1038/ng0306-277  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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  0.56
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