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Items: 1 to 50 of 125

1.

Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.

Gagunashvili AN, Ocaka L, Kelberman D, Munot P, Bacchelli C, Beales PL, Ganesan V.

Hum Genome Var. 2019 Aug 8;6:35. doi: 10.1038/s41439-019-0066-6. eCollection 2019.

2.

Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.

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, Christou-Savina S.

PLoS Biol. 2019 Oct 8;17(10):e3000520. doi: 10.1371/journal.pbio.3000520. eCollection 2019 Oct.

3.

Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.

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, Christou-Savina S.

PLoS Biol. 2019 Sep 3;17(9):e3000414. doi: 10.1371/journal.pbio.3000414. eCollection 2019 Sep. Erratum in: PLoS Biol. 2019 Oct 8;17(10):e3000520.

4.

Germline selection shapes human mitochondrial DNA diversity.

Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF.

Science. 2019 May 24;364(6442). pii: eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23.

5.

CiliaCarta: An integrated and validated compendium of ciliary genes.

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, van Reeuwijk J, Wheway G, Knapp B, Scheel JF, Franco B, Mans DA, van Wijk E, Képès F, Slaats GG, Toedt G, Kremer H, Omran H, Szymanska K, Koutroumpas K, Ueffing M, Nguyen TT, Letteboer SJF, Oud MM, van Beersum SEC, Schmidts M, Beales PL, Lu Q, Giles RH, Szklarczyk R, Russell RB, Gibson TJ, Johnson CA, Blacque OE, Wolfrum U, Boldt K, Roepman R, Hernandez-Hernandez V, Huynen MA.

PLoS One. 2019 May 16;14(5):e0216705. doi: 10.1371/journal.pone.0216705. eCollection 2019.

6.

An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis.

Seda M, Geerlings M, Lim P, Jeyabalan-Srikaran J, Cichon AC, Scambler PJ, Beales PL, Hernandez-Hernandez V, Stoker AW, Jenkins D.

Mol Syndromol. 2019 Feb;10(1-2):98-114. doi: 10.1159/000491567. Epub 2018 Jul 21.

7.

Mechanical loading inhibits cartilage inflammatory signalling via an HDAC6 and IFT-dependent mechanism regulating primary cilia elongation.

Fu S, Thompson CL, Ali A, Wang W, Chapple JP, Mitchison HM, Beales PL, Wann AKT, Knight MM.

Osteoarthritis Cartilage. 2019 Jul;27(7):1064-1074. doi: 10.1016/j.joca.2019.03.003. Epub 2019 Mar 25.

8.

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.

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, Williams HJ.

J Med Genet. 2018 Nov;55(11):721-728. doi: 10.1136/jmedgenet-2018-105396. Epub 2018 Jul 26.

9.

CD19+CD24hiCD38hi B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor 7 and Interferon-α.

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, Mauri C, Nistala K, Wedderburn LR.

Front Immunol. 2018 Jun 22;9:1372. doi: 10.3389/fimmu.2018.01372. eCollection 2018.

10.

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.

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, Bongers EMHF, Renkema KY, Knoers NVAM, van Reeuwijk J, Lilien MR.

Pediatr Nephrol. 2018 Oct;33(10):1701-1712. doi: 10.1007/s00467-018-3958-7. Epub 2018 Jul 5.

11.

The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis.

Renkema KY, Giles RH, Lilien MR, Beales PL, Roepman R, Oud MM, Arts HH, Knoers NVAM.

Front Pediatr. 2018 May 7;6:131. doi: 10.3389/fped.2018.00131. eCollection 2018.

12.

Managing Bardet-Biedl Syndrome-Now and in the Future.

Forsythe E, Kenny J, Bacchelli C, Beales PL.

Front Pediatr. 2018 Feb 13;6:23. doi: 10.3389/fped.2018.00023. eCollection 2018. Review.

13.

The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population.

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.

J Clin Endocrinol Metab. 2018 May 1;103(5):1834-1841. doi: 10.1210/jc.2017-01459.

PMID:
29409041
14.

Chondrocyte expansion is associated with loss of primary cilia and disrupted hedgehog signalling.

Thompson CL, Plant JC, Wann AK, Bishop CL, Novak P, Mitchison HM, Beales PL, Chapple JP, Knight MM.

Eur Cell Mater. 2017 Sep 20;34:128-141. doi: 10.22203/eCM.v034a09.

15.

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.

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.

Eur J Med Genet. 2017 Dec;60(12):658-666. doi: 10.1016/j.ejmg.2017.08.019. Epub 2017 Sep 12. Review.

PMID:
28870638
16.

COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

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.

PLoS Genet. 2017 Mar 16;13(3):e1006679. doi: 10.1371/journal.pgen.1006679. eCollection 2017 Mar.

17.

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

Josifova DJ, Monroe GR, Tessadori F, de Graaff E, van der Zwaag B, Mehta SG; DDD Study, Harakalova M, Duran KJ, Savelberg SM, Nijman IJ, Jungbluth H, Hoogenraad CC, Bakkers J, Knoers NV, Firth HV, Beales PL, van Haaften G, van Haelst MM.

Hum Mol Genet. 2016 Jun 1;25(11):2158-2167. Epub 2016 Mar 22.

PMID:
27005418
18.

Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia.

Melhem M, Abu-Farha M, Antony D, Madhoun AA, Bacchelli C, Alkayal F, AlKhairi I, John S, Alomari M, Beales PL, Alsmadi O.

Eur J Haematol. 2017 Mar;98(3):218-227. doi: 10.1111/ejh.12819. Epub 2017 Jan 3.

PMID:
27743390
19.

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.

Maria M, Lamers IJ, Schmidts M, Ajmal M, Jaffar S, Ullah E, Mustafa B, Ahmad S, Nazmutdinova K, Hoskins B, van Wijk E, Koster-Kamphuis L, Khan MI, Beales PL, Cremers FP, Roepman R, Azam M, Arts HH, Qamar R.

Sci Rep. 2016 Oct 6;6:34764. doi: 10.1038/srep34764.

20.

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

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.

J Am Soc Nephrol. 2017 Mar;28(3):963-970. doi: 10.1681/ASN.2015091029. Epub 2016 Sep 22.

21.

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.

Bacchelli C, Moretti FA, Carmo M, Adams S, Stanescu HC, Pearce K, Madkaikar M, Gilmour KC, Nicholas AK, Woods CG, Kleta R, Beales PL, Qasim W, Gaspar HB.

J Allergy Clin Immunol. 2017 Feb;139(2):634-642.e5. doi: 10.1016/j.jaci.2016.05.036. Epub 2016 Jul 15.

PMID:
27522155
22.

Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.

Kammermeier J, Dziubak R, Pescarin M, Drury S, Godwin H, Reeve K, Chadokufa S, Huggett B, Sider S, James C, Acton N, Cernat E, Gasparetto M, Noble-Jamieson G, Kiparissi F, Elawad M, Beales PL, Sebire NJ, Gilmour K, Uhlig HH, Bacchelli C, Shah N.

J Crohns Colitis. 2017 Jan;11(1):60-69. doi: 10.1093/ecco-jcc/jjw118. Epub 2016 Jun 14.

23.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.

Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R; UK10K Rare Diseases Group.

Nat Commun. 2016 May 13;7:11491. doi: 10.1038/ncomms11491.

24.

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

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, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR.

PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016.

25.

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

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, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB.

Nat Commun. 2016 Mar 29;7:11270. doi: 10.1038/ncomms11270. No abstract available.

26.

Non-essential role for cilia in coordinating precise alignment of lens fibres.

Sugiyama Y, Shelley EJ, Yoder BK, Kozmik Z, May-Simera HL, Beales PL, Lovicu FJ, McAvoy JW.

Mech Dev. 2016 Feb;139:10-7. doi: 10.1016/j.mod.2016.01.003. Epub 2016 Jan 26.

27.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

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, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA.

Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13.

28.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

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, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB.

Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074. Erratum in: Nat Commun. 2016;7:11270.

29.

Bardet-Biedl Syndrome.

Forsythe E, Beales PL.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 Jul 14 [updated 2015 Apr 23].

30.

Evaluation of zebrafish kidney function using a fluorescent clearance assay.

Christou-Savina S, Beales PL, Osborn DP.

J Vis Exp. 2015 Feb 20;(96):e52540. doi: 10.3791/52540.

31.

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.

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, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, Johnson CA, Szymanska K, Katsanis N, Davis E, Kleta R, Hubank M, Doxsey S, Jackson A, Stupka E, Winey M, Beales PL.

J Med Genet. 2015 Mar;52(3):147-56. doi: 10.1136/jmedgenet-2014-102691. Epub 2015 Jan 6. Erratum in: J Med Genet. 2016 Oct 13;:.

32.

Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents.

Gerdes JM, Christou-Savina S, Xiong Y, Moede T, Moruzzi N, Karlsson-Edlund P, Leibiger B, Leibiger IB, Östenson CG, Beales PL, Berggren PO.

Nat Commun. 2014 Nov 6;5:5308. doi: 10.1038/ncomms6308.

PMID:
25374274
33.

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, Superti-Furga A; UK10K Consortium, Mitchison HM, Almoisheer A, Alamro R, Alshiddi T, Alzahrani F, Beales PL, Alkuraya FS.

Hum Mol Genet. 2015 Mar 1;24(5):1410-9. doi: 10.1093/hmg/ddu555. Epub 2014 Oct 30.

34.

Bardet Biedl syndrome: motile ciliary phenotype.

Shoemark A, Dixon M, Beales PL, Hogg CL.

Chest. 2015 Mar;147(3):764-770. doi: 10.1378/chest.13-2913.

PMID:
25317630
35.

Evaluation of visual function and needs in adult patients with bardet-biedl syndrome.

Denniston AK, Beales PL, Tomlins PJ, Good P, Langford M, Foggensteiner L, Williams D, Tsaloumas MD.

Retina. 2014 Nov;34(11):2282-9. doi: 10.1097/IAE.0000000000000222.

PMID:
25170860
36.

Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.

Su X, Driscoll K, Yao G, Raed A, Wu M, Beales PL, Zhou J.

Hum Mol Genet. 2014 Oct 15;23(20):5441-51. doi: 10.1093/hmg/ddu267. Epub 2014 Jun 16.

37.

Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.

Forsythe E, Sparks K, Hoskins BE, Bagkeris E, McGowan BM, Carroll PV, Huda MS, Mujahid S, Peters C, Barrett T, Mohammed S, Beales PL.

Clin Genet. 2015 Apr;87(4):343-9. doi: 10.1111/cge.12373. Epub 2014 Apr 8. Erratum in: Clin Genet. 2016 May;89(5):636.

38.

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.

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, Hogg C, Yang P, Chung EM, Emes RD, O'Callaghan C; UK10K, Bouvagnet P, Mitchison HM.

Hum Mol Genet. 2014 Jul 1;23(13):3362-74. doi: 10.1093/hmg/ddu046. Epub 2014 Feb 11.

39.

Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies.

Osborn DP, Roccasecca RM, McMurray F, Hernandez-Hernandez V, Mukherjee S, Barroso I, Stemple D, Cox R, Beales PL, Christou-Savina S.

PLoS One. 2014 Feb 4;9(2):e87662. doi: 10.1371/journal.pone.0087662. eCollection 2014.

40.

Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters.

Sousa SB, Ramos F, Garcia P, Pais RP, Paiva C, Beales PL, Moore GE, Saraiva JM, Hennekam RC.

Am J Med Genet A. 2014 Jan;164A(1):10-4.

PMID:
24501761
41.

Mutation of SALL2 causes recessive ocular coloboma in humans and mice.

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, Kohlhase J, Nischal KK, Sowden JC.

Hum Mol Genet. 2014 May 15;23(10):2511-26. doi: 10.1093/hmg/ddt643. Epub 2014 Jan 9.

42.

Development of an automated imaging pipeline for the analysis of the zebrafish larval kidney.

Westhoff JH, Giselbrecht S, Schmidts M, Schindler S, Beales PL, Tönshoff B, Liebel U, Gehrig J.

PLoS One. 2013 Dec 4;8(12):e82137. doi: 10.1371/journal.pone.0082137. eCollection 2013.

43.

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

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, Simandlová M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE.

Nat Genet. 2014 Jan;46(1):70-6. doi: 10.1038/ng.2829. Epub 2013 Nov 17.

PMID:
24241535
44.

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

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, Emes RD, Pals G, Moore AT, Chung EM; UK10K, Mitchison HM.

J Med Genet. 2014 Jan;51(1):61-7. doi: 10.1136/jmedgenet-2013-101938. Epub 2013 Nov 7.

45.

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

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, Elçioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C; UK10K, Duncan EL, Mitchison HM.

Am J Hum Genet. 2013 Nov 7;93(5):932-44. doi: 10.1016/j.ajhg.2013.10.003. Epub 2013 Oct 31.

46.

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

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, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F.

Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17.

47.

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.

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, McCabe MJ, Kasia T, Kleta R, Stupka E, Beales PL, Thompson DA, Chong WK, Alkuraya FS, Martinez-Barbera JP, Sowden JC, Dattani MT.

Brain. 2013 Oct;136(Pt 10):3096-105. doi: 10.1093/brain/awt218. Epub 2013 Sep 10.

48.

Intellectual disability, unusual facial morphology and hand anomalies in sibs.

Sousa SB, Venâncio M, Chanudet E, Palmer R, Ramos L, Beales PL, Moore GE, Saraiva JM, Hennekam RC.

Am J Med Genet A. 2013 Oct;161A(10):2401-6. doi: 10.1002/ajmg.a.36124. Epub 2013 Aug 15.

PMID:
23949889
49.

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.

McInerney-Leo AM, Schmidts M, Cortés CR, Leo PJ, Gener B, Courtney AD, Gardiner B, Harris JA, Lu Y, Marshall M; UK10K Consortium, Scambler PJ, Beales PL, Brown MA, Zankl A, Mitchison HM, Duncan EL, Wicking C.

Am J Hum Genet. 2013 Sep 5;93(3):515-23. doi: 10.1016/j.ajhg.2013.06.022. Epub 2013 Aug 1.

50.

The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex.

Cardenas-Rodriguez M, Irigoín F, Osborn DP, Gascue C, Katsanis N, Beales PL, Badano JL.

Hum Mol Genet. 2013 Oct 15;22(20):4031-42. doi: 10.1093/hmg/ddt253. Epub 2013 May 31.

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