Dr Dorine Bax
PhD
Research Co-ordinator
School of Biological and Medical Sciences
Role
My role involves looking after the families taking part in 'The Genetics Of Eye and Brain Anomalies Study'' (PI Professor Nicola Ragge) on a day-to-day basis, as well as coordinating various aspects of the team's research
Research
Publications
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Journal articles
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Merepa SS, Reis LM, Damian A, Bardakjian T, Schneider A, Trujillo-Tiebas MJ, Ayuso C, Cortázar Galarza L, Saez Villaverde R, Ortiz-Cabrera NM, Bax DA, Holt R, Ceroni F, Edery P, Grelet M, Riccardi F, Maillard L, Costakos D, Plaisancié J, Chassaing N, Corton M, Semina EV, Ragge NK
, GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations
European Journal of Human Genetics [online first] (2025) ISSN: 1018-4813 eISSN: 1476-5438 GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations Open Access version on RADAR -
Ceroni F, Cicekdal MB, Holt R, Sorokina E, Chassaing N, Clokie S, Naert T, Talbot LV, Muheisen S, Bax DA, Kesim Y, Kivuva EC, Vincent-Delorme C, Lienkamp SS, Plaisancie J, De Baere E, Calvas P, Vleminckx K, Semina EV, Ragge NK, Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development
Nature Communications (2024) ISSN: 2041-1723 eISSN: 2041-1723 -
Plaisancié J, Jelena Martinovic J, Chesneau B, Whalen S, Rodriguez D, Audebert-Bellanger S, Marzin P, Grotto S, Perthus I, Holt R, Bax D, Ragge NK, Chassaing N, Clinical, genetic and biochemical signatures of RBP4-related ocular malformations
Journal of Medical Genetics 61 (1) (2023) pp.84-92 ISSN: 0022-2593 eISSN: 1468-6244 Clinical, genetic and biochemical signatures of RBP4-related ocular malformations Open Access version on RADAR -
Kesim Y, Ceroni F, Damián A, Blanco-Kelly F , Ayuso C, Williamson K, Paquis V, Bax DA, Plaisancié J, Rieubland C, Chamlal M, Cortón M, Chassaing N, Calvas P, Ragge NK, Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia
European Journal of Human Genetics 31 (2023) pp.1175-1180 ISSN: 1018-4813 eISSN: 1476-5438 Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia Open Access version on RADAR -
Holt R, Goudie D, Damián A, Gardham A, Ramond F, Putoux A, Sarkar A, Clowes V, Clayton-Smith J, Banka S, Cortazar Galarza L, Thuret G, Ubeda Erviti M, Zurutuza Ibarguren A, Saez Villaverde R, Tamayo Duran A, Ayuso C, Bax DA, Plaisancie J, Corton M, Chassaing N, Calvas P, Ragge NK
, Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity
Ophthalmic Genetics 43 (6) (2022) pp.809-816 ISSN: 1381-6810 eISSN: 1744-5094 Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity Open Access version on RADAR -
Ceroni F, Osborne D, Clokie S, Bax DA, Cassidy EJ, Dunn MJ, Harris C, Self JE, Ragge NK, Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia
European Journal of Human Genetics 31 (2022) pp.353-359 ISSN: 1018-4813 eISSN: 1476-5438 Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia Open Access version on RADAR -
Holt RJ, Young RM, Crespo B, Ceroni F, Curry CJ, Bellacchio E, Bax DA, Ciolfi A, Simon M, Fagerberg CR, van Binsbergen E, De Luca A, Memo L, Dobyns WB, Mohammed AA, Clokie SJH, Zazo Seco C, Jiang YH, Sørensen KP, Andersen H, Sullivan J, Powis Z, Chassevent A, Smith-Hicks C, Petrovski S, Antoniadi T, Shashi V, Gelb B,Wilson SW,
Gerrelli D, Tartaglia M, Chassaing N, Calvas P, Ragge NK, De novo missense variants in FBXW11 cause diverse developmental phenotypes including brain, eye and digit anomalies
American Journal of Human Genetics 105 (3) (2019) pp.P640-P657 ISSN: 0002-9297 eISSN: 1537-6605 De novo missense variants in FBXW11 cause diverse developmental phenotypes including brain, eye and digit anomalies Open Access version on RADAR -
Ragge N, Isidor B, Bitoun P, Odent S, Giurgea I, Cogné B, Deb W, 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., Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
Human Genetics 138 (2018) pp.1051-1069 ISSN: 0340-6717 eISSN: 1432-1203 Expanding the phenotype of the X-linked BCOR microphthalmia syndromes Open Access version on RADAR -
Ceroni F, Aguilera-Garcia D, Chassaing N, Bax DA, Blanco-Kelly F, Ramos P, Tarilonte M, Villaverde C, da Silva LRJ, Ballesta-Martínez MJ, Sanchez-Soler MJ, Holt RJ, Cooper-Charles L, Bruty J, Wallis Y, McMullan D, Hoffman J, Bunyan D, Stewart A, Stewart H, Lachlan K; DDD Study, Fryer A, McKay V, Roume J, Dureau 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
Human Genetics 138 (8/9) (2018) pp.1027-1042 ISSN: 0340-6717 eISSN: 1432-1203 New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies Open Access version on RADAR -
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
Scientific Reports 7 (2017) ISSN: 2045-2322 New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders Open Access version on RADAR -
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 NK, Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders
Human Genetics 136 (1) (2016) pp.119-127 ISSN: 0340-6717 eISSN: 1432-1203 Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders Open Access version on RADAR