Department of Biological and Medical Sciences

Publications

  • Ragge NK, Isidor B, Bitoun P, Odent S, Giurgea I, Cogne B, Wallid D, Vincent M, Le Gall J, Morton J, Lim D, DDD study, Le Meur, G, Zazo Seco C, Zafeiropoulou D, Bax D, Zwijnenburg P, Arteche A, Swafiri ST, Cleaver R McEntagart M, Kini U, Newman W, Ayuso C, Corton M, Herenger Y, Jeanne M, Calvas P, Chassaing N. (2018). Expanding the Phenotype of the X-linked BCOR microphthalmia syndromes. Hum Genet. 2018 Jul 4

     

    Menke LA; DDD study, Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B, Hennekam RC. Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. Am J Med Genet A. 2018 Feb 20

     

    Zazo Seco C, Plaisancié J, Lupasco T, Michot C, Pechmeja J, Delanne J, Cottereau E, Ayuso C, Corton M, Calvas P, Ragge N, Chassaing N. (2018) Identification of PITX3 mutations in individuals with various ocular developmental defects. Ophthalmic Genet. 2018 Feb 6:1-7


    Ceroni F, Aguilera-Garcia D, Chassaing N, Bax DA, Blanco-Kelly F, Ramos P, Tarilonte M, Villaverde C, Rodrigues Jacy da Silva L, Ballesta-Martinez MJ, Sanchez-Soler MJ, Holt R, Cooper-Charles L, Bruty J, Wallis Y, McMullan D, Hoffman J, Bunyan D, Stewart H, Lachlan K, DDD study, Fryer A, McKay V, Roume J, Bureau P, Saggar A, Griffiths M, Calvas P, Ayuso C, Corton M, Ragge NK. New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. Hum Genet. 2018 Feb 20

     

    Plaisancié J, Ragge NK, Dollfus H, Kaplan J, Lehalle D, Francannet C, Morin G, Colineaux H, Calvas P, Chassaing N. FOXE3 mutations: genotype-phenotype correlations. Clin Genet. 2017 Nov 14


    Holt R, Ceroni F, Bax DA, Broadgate S, Diaz DG, Santos C, Gerrelli D, Ragge NK. New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders. Sci Rep. 2017 Aug 11;7(1):7975

     

    Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B (2017). FOXP1-related intellectual disability syndrome: a recognisable entity. J Med Genet. 2017 Sep;54(9):613-623


    Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh JT, Lynch SA, Flinter F, FitzPatrick DR, Gardham A, Bernhard B, Ragge N, Newbury-Ecob R, Bernier R, Kvarnung M, Magnusson EA, Wessels MW, van Slegtenhorst MA, Monaghan KG, de Vries P, Veltman JA; Deciphering Developmental Disorders Study, Lord CJ, Vissers LE, de Vries BB (2017). De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. Am J Hum Genet. Apr 6;100(4):650-658


    Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B (2017). De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nat Genet. Feb;49(2):249-255

     

    Holt R, Ugur Iseri SA, Wyatt AW, Bax DA, Gold Diaz D, Santos C, Broadgate S, Dunn R, Bruty J, Wallis Y, McMullan D, Ogilvie C, Gerrelli D, Zhang Y, Ragge N (2017). Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders. Hum Genet. Jan;136(1):119-127

     

    Ng YS, Alston CL, Diodato D, Morris AA, Ulrick N, Kmoch S, Houštěk J, Martinelli D, Haghighi A, Atiq M, Gamero MA, Garcia-Martinez E, Kratochvílová H, Santra S, Brown RM, Brown GK, Ragge N, Monavari A, Pysden K, Ravn K, Casey JP, Khan A, Chakrapani A, Vassallo G, Simons C, McKeever K, O'Sullivan S, Childs AM, Østergaard E, Vanderver A, Goldstein A, Vogt J, Taylor RW, McFarland R (2016). The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. J Med Genet. 2016 Jul 13.

     

    Chassaing N, Ragge N, Plaisancié J, Patat O, Geneviève D, Rivier F, Malrieu-Eliaou C, Hamel C, Kaplan J, Calvas P (2016). Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. Am J Med Genet A. 2016 Apr 22.

     

    Titheradge HL, Patel C, Ragge NK (2015) .Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality. Clin Dysmorphol. Jan;24(1):13-6.

     

    Watkins KE, Shakespeare TJ, O'Donoghue MC, Alexander I, Ragge N, Cowey A, Bridge H. Early auditory processing in area V5/MT+ of the congenitally blind brain. J Neurosci. 2013 Nov 13;33(46):18242-6.

     

    Srour M, Chitayat D, Caron V, Chassaing N, Bitoun P, Patry L, Cordier MP, Capo-Chichi JM, Francannet C, Calvas P, Ragge N, Dobrzeniecka S, Hamdan FF, Rouleau GA, Tremblay A, Michaud JL (2013). Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. Am J Hum Genet.  Oct 3;93(4):765-72.

     

    Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gérard X, Baumann C, Plessis G, Demeer B, Brétillon L, Bole C, Nitschke P, Munnich A, Lyonnet S, Calvas P, Kaplan J, Ragge N, Rozet JM (2013). ALDH1A3 mutations cause recessive anophthalmia and microphthalmia  Am J Hum Genet. Feb 7;92(2):265-70.

     

    Chassaing N, Ragge N, Kariminejad A, Buffet A, Ghaderi-Sohi S, Martinovic J, Calvas P (2013). Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia. Clin Genet. Mar;83(3):244-50.

     

    Shah SP, Taylor AE, Sowden JC, Ragge N, Russell-Eggitt I, Rahi JS, Gilbert CE; Surveillance of Eye Anomalies Special Interest Group (2012). Anophthalmos, microphthalmos and typical coloboma in the United Kingdom: clinical features, investigations and early management  Ophthalmology. Feb;119(2):362-8.

     

    Osborne R, 
Kurinczuk
 J, Ragge N (2011). Parent-of-origin effects in SOX2 anophthalmia syndrome. Molecular Vision 17: 3097-106.

     

    Shah SP, Taylor AE, Sowden JC, Ragge NK, Russell-Eggitt I, Rahi JS, Gilbert CE; Surveillance of Eye Anomalies (SEA-UK) Special Interest Group (2011). Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk. Invest Ophthalmol Vis Sci. Feb 1;52(1):558-64.

     

    den Hollander AI, Biyanwila J, Kovach P, Bardakjian T, Traboulsi EI, Ragge NK, Schneider A, Malicki J (2010). Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies. BMC Genet. Nov 11;11:102.

     

    Iseri SU, Wyatt AW, Nürnberg G, Kluck C, Nürnberg P, Holder GE, Blair E, Salt A, Ragge NK (2010). Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy. Hum Genet. Jul;128(1):51-60.

     

    Bakrania P, Ugur Iseri SA, Wyatt AW, Bunyan DJ, Lam WW, Salt A, Ramsay J, Robinson DO, Ragge NK (2010). Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies. Am J Med Genet A. May;152A(5):1310-3.

     

    Wyatt AW, Osborne RJ, Stewart H, Ragge NK (2010). Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies. Hum Mutat.  Jul;31(7):781-7.

     

    Gestri G, Osborne RJ, Wyatt AW, Gerrelli D, Gribble S, Stewart H, Fryer A, Bunyan DJ, Prescott K, Collin JR, Fitzgerald T, Robinson D, Carter NP, Wilson SW, Ragge NK (2009). Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. Hum Genet. Dec;126(6):791-803.

     

    Iseri SU, Osborne RJ, Farrall M, Wyatt AW, Mirza G, Nürnberg G, Kluck C, Herbert H, Martin A, Hussain MS, Collin JR, Lathrop M, Nürnberg P, Ragoussis J, Ragge NK (2009). Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies. Hum Mutat. Oct;30(10):1378-86.

     

    Kaur K, Ragge NK, Ragoussis J (2009). Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies. Mol Vis. Jul 13;15:1366-73.

     

    Wyatt A, Bakrania P, Bunyan DJ, Osborne RJ, Crolla JA, Salt A, Ayuso C, Newbury-Ecob R, Abou-Rayyah Y, Collin JR, Robinson D, Ragge N (2008). Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum Mutat. Nov;29(11):E278-83.

     

    Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR (2008) Donnai-Barrow syndrome DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy  Am J Med Genet Part A, 146A(14):1842-1847.

     

    Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK (2008).  Mutations in the human BMP4 gene cause eye and brain developmental anomalies associated with polydactyly – overlap with hedgehog signalling Am J Hum Genet 82, 304-19. Cited by Editor: Robin E. Williamson Am J Hum Gen - 8 February 2008 Vol. 82, Issue 2, pp. 257-258.

     

    Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK (2007). SOX2 anophthalmia syndrome: twelve new cases demonstrating broader phenotype and high frequency of large gene deletions Brit J of Ophthalmol 91(11):1471-6. 

     

    Ragge NK, Salt A, Collin JR, Michalski A, Farndon PA (2005). Gorlin syndrome:  the PTCH gene links ocular developmental defects and tumour formation  Brit J Ophthalmol 89:988-91.

     

    Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM (2005). Heterozygous mutations of OTX2 cause severe ocular malformations  Am J Hum Genet 76:1008-1022.

     

    Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, Salt A, Collin JR, Vivian AJ, Free SL, Thompson P, Williamson KA, Sisodiya SM, van Heyningen V, Fitzpatrick DR.(2005) SOX2 Anophthalmia Syndrome  Am J Med Genet 135A:1-7.

     

    Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR (2003). Mutations in SOX2 cause human anophthalmia  Nature Genetics 33, 461-3.