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Publications:  Dr Nikolas Pontikos

Fujinami-Yokokawa Y, Fujinami K, Kuniyoshi K, Hayashi T, Ueno S, Mizota A, Shinoda K, Arno G et al.(2020). Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association. Scientific Reports vol. 10, (1)
10.1038/s41598-020-65737-z
Yang L, Fujinami K, Ueno S, Kuniyoshi K, Hayashi T, Kondo M, Mizota A, Naoi N et al.(2020). Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency. Scientific Reports vol. 10, (1)
10.1038/s41598-020-62119-3
Rio-Machin A, Vulliamy T, Hug N, Walne A, Tawana K, Cardoso S, Ellison A, Pontikos N et al.(2020). The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. Nature Communications vol. 11, (1)
10.1038/s41467-020-14829-5
https://qmro.qmul.ac.uk/xmlui/handle/123456789/64355
Dieck S, Ibarra M, Moghul I, Yeung MW, Pantel JT, Thiele S, Pfau M, Fleckenstein M et al.(2020). Factors in color fundus photographs that can be used by humans to determine sex of individuals. Translational Vision Science and Technology vol. 9, (7)
10.1167/tvst.9.7.8
Liu X, Fujinami K, Kuniyoshi K, Kondo M, Ueno S, Hayashi T, Mochizuki K, Kameya S et al.(2020). Clinical and genetic characteristics of 15 affected patients from 12 Japanese families with GUCY2D-associated retinal disorder. Translational Vision Science and Technology vol. 9, (6)
10.1167/tvst.9.6.2
Fasler K, Fu DJ, Moraes G, Wagner S, Gokhale E, Kortuem K, Chopra R, Faes L et al.(2020). Moorfields AMD database report 2: Fellow eye involvement with neovascular age-related macular degeneration. British Journal of Ophthalmology vol. 104, (5) 684-690.
10.1136/bjophthalmol-2019-314446
Berry V, Ionides A, Pontikos N, Moghul I, Moore AT, Quinlan RA, Michaelides M(2020). Whole exome sequencing reveals novel and recurrent disease-causing variants in lens specific gap junctional protein encoding genes causing congenital cataract. Genes vol. 11, (5)
10.3390/genes11050512
Cipriani V, Pontikos N, Arno G, Sergouniotis PI, Lenassi E, Thawong P, Danis D, Michaelides M et al.(2020). An improved phenotype-driven tool for rare mendelian variant prioritization: Benchmarking exomiser on real patient whole-exome data. Genes vol. 11, (4)
10.3390/genes11040460
Wright GA, Georgiou M, Robson AG, Ali N, Kalhoro A, Holthaus SK, Pontikos N, Oluonye N et al.(2020). Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy. Ophthalmology Retina vol. 4, (4) 433-445.
10.1016/j.oret.2019.11.005
Berry V, Pontikos N, Dudakova L, Moore AT, Quinlan R, Liskova P, Michaelides M(2020). A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract. Ophthalmic Genetics vol. 41, (2) 131-134.
10.1080/13816810.2020.1737950
Cui L, Yang B, Pontikos N, Mott R, Huang L(2020). ADDO: A comprehensive toolkit to detect, classify and visualize additive and non-additive quantitative trait loci. Bioinformatics vol. 36, (5) 1517-1521.
10.1093/bioinformatics/btz786
Pontikos N, Wagner SK, Balaskas K, Faes L, Kortuem K, Fasler K, Keane PA(2020). Comment on: Trends in Retina Specialist Imaging Utilization From 2012 to 2016 in the United States Medicare Fee-for-Service Population. American Journal of Ophthalmology vol. 211,
10.1016/j.ajo.2019.09.021
Bouzia Z, Georgiou M, Hull S, Robson AG, Fujinami K, Rotsos T, Pontikos N, Arno G et al.(2020). GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies. American Journal of Ophthalmology vol. 210, 59-70.
10.1016/j.ajo.2019.10.019
Alfahaid A, Morris T, Cootes T, Keane PA, Khalid H, Pontikos N, Sergouniotis P, Balaskas K (2020). A Hybrid Machine Learning Approach Using LBP Descriptor and PCA for Age-Related Macular Degeneration Classification in OCTA Images. Communications in Computer and Information Science. vol. 1065 CCIS, 231-241.
10.1007/978-3-030-39343-4_20
Davidson AE, Hafford-Tear NJ, Dudakova L, Sadan AN, Pontikos N, Hardcastle AJ, Tuft SJ, Liskova P(2020). CUGC for posterior polymorphous corneal dystrophy (PPCD). European Journal of Human Genetics vol. 28, (1) 126-131.
10.1038/s41431-019-0448-8
Pontikos N, Arno G, Jurkute N, Schiff E, Ba-Abbad R, Malka S, Gimenez A, Georgiou M et al.(2020). Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom. Ophthalmology
10.1016/j.ophtha.2020.04.008
Pontikos N, Murphy C, Moghul I, Arno G, Fujinami K, Fujinami Y, Sumodhee D, Downes S et al.(2020). Phenogenon: Gene to phenotype associations for rare genetic diseases. PLoS ONE vol. 15, (4)
10.1371/journal.pone.0230587
Georgiou M, Robson AG, Singh N, Pontikos N, Kane T, Hirji N, Ripamonti C, Rotsos T et al.(2019). Deep phenotyping of PDE6C-associated achromatopsia. Investigative Ophthalmology and Visual Science vol. 60, (15) 5112-5123.
10.1167/iovs.19-27761
Hull S, Arno G, Ostergaard P, Pontikos N, Robson AG, Webster AR, Hogg CR, Wright GA et al.(2019). Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly. American Journal of Ophthalmology vol. 207, 87-98.
10.1016/j.ajo.2019.05.001
Sadan AN, Hafford-Tear NJ, Muthusamy K, Dudakova L, Skalicka P, Liskova P, Hardcastle AJ, Tuft SJ et al. (2019). Investigating the genetic architecture of fuchs endothelial corneal dystrophy (FECD) in a genetically refined cohort of patients. EUROPEAN JOURNAL OF HUMAN GENETICS. vol. 27, 1223-1224.
Taylor RL, Poulter JA, Downes SM, McKibbin M, Khan KN, Inglehearn CF, Webster AR, Hardcastle AJ et al.(2019). Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen. Ophthalmology vol. 126, (10) 1410-1421.
10.1016/j.ophtha.2019.03.013
Faes L, Wagner SK, Fu DJ, Liu X, Korot E, Ledsam JR, Back T, Chopra R et al.(2019). Automated deep learning design for medical image classification by health-care professionals with no coding experience: a feasibility study. The Lancet Digital Health vol. 1, (5) e232-e242.
10.1016/S2589-7500(19)30108-6
Khawaja AP, Rojas Lopez KE, Hardcastle AJ, Hammond CJ, Liskova P, Davidson AE, Gore DM, Hafford Tear NJ et al.(2019). Genetic Variants Associated with Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study. JAMA Ophthalmology vol. 137, (9) 1005-1012.
10.1001/jamaophthalmol.2019.2058
Arno G, Silva RS, Pontikos N, Cipriani V, Defoort-Dhellemmes S, Kalhoro A, Carss KJ, Raymond FL et al. (2019). A recurrent intergenic variant upstream of PRDM13 causes autosomal dominant progressive bifocal chorioretinal atrophy in two unrelated pedigrees. EUROPEAN JOURNAL OF HUMAN GENETICS. vol. 27, 60-61.
Keane PA, Faes L, Wagner S, Fu DJ, Ledsam JR, Chopra R, Kern C, Moraes G et al. (2019). Automated Development of Deep Learning Models to Diagnose Retinal Disease from Fundus and Optical Coherence Tomography Images. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. vol. 60,
Silva RS, Kraft K, Arno G, Cipriani V, Heinrich V, Pontikos N, Puech B, Moore A et al. (2019). Congenital Macular Dystrophy is caused by non-coding duplications downstream of the IRXA cluster. EUROPEAN JOURNAL OF HUMAN GENETICS. vol. 27, 866-867.
Liskova P, Dudakova L, Evans CJ, Lopez KER, Pontikos N, Athanasiou D, Jama H, Sach J et al. (2019). Ectopic expression of GRHL2 due to non-coding mutations promotes cell state transition and causes Posterior Polymorphous Corneal Dystrophy 4. EUROPEAN JOURNAL OF HUMAN GENETICS. vol. 27, 867-867.
Mahroo OAR, Pontikos N, Arno G, Ba-Abbad R, Malka S, Wright G, Armengol M, Katz M et al. (2019). Genetic basis of inherited retinal disease in a UK cohort of over 2900 families. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. vol. 60,
Balaskas K, Alfahaid A, Khalid H, Sergouniotis P, Pontikos N, Keane PA (2019). Machine Learning for the automated interpretation of Optical Coherence Tomography Angiography for Age-related Macular Degeneration. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. vol. 60,
Pontikos N, Moghul I, Yu J, Fiorentino A, Arno G, Hardcastle AJ, Webster AR, Plagnol V (2019). Phenopolis: an open platform for harmonisation of genetic and phenotypic data. EUROPEAN JOURNAL OF HUMAN GENETICS. vol. 27, 568-569.
Fujinami YY, Pontikos N, Yang L, Yoshitake K, Tsunoda K, Arno G, Iwata T, Miyata H et al. (2019). Prediction of Causative Genes in Inherited Retinal Disorders From Spectral-domain Optical Coherent Tomography Utilizing Deep Learning Techniques. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. vol. 60,
Fiorentino A, Yu J, Arno G, Pontikos N, Halford S, Broadgate S, Michaelides M, Carss KJ et al. (2019). Two novel homozygous splicing mutations in ARL2BP cause autosomal recessive Retinitis Pigmentosa. EUROPEAN JOURNAL OF HUMAN GENETICS. vol. 27, 43-44.
Marks L, Pontikos N, Webster A, Consortium PGP-UK (2019). Who am I? The Personal Genome Project UK. EUROPEAN JOURNAL OF HUMAN GENETICS. vol. 27, 590-590.
Fasler K, Moraes G, Wagner S, Kortuem KU, Chopra R, Faes L, Preston G, Pontikos N et al.(2019). One- and two-year visual outcomes from the Moorfields age-related macular degeneration database: A retrospective cohort study and an open science resource. BMJ Open vol. 9, (6)
10.1136/bmjopen-2018-027441
https://qmro.qmul.ac.uk/xmlui/handle/123456789/61901
Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, Haritunians T, Neale BM et al.(2019). Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population (PLOS Genetics, (2018), 14, 5, 10.1371/journal.pgen.1007329). PLoS Genetics vol. 15, (5)
10.1371/journal.pgen.1008190
Ometto G, Moghul I, Montesano G, Hunter A, Pontikos N, Jones PR, Keane PA, Liu X et al.(2019). Relayer: A free, online tool for extracting retinal thickness from cross-platform OCT images. Translational Vision Science and Technology vol. 8, (3)
10.1167/tvst.8.3.25
Dudakova L, Evans CJ, Pontikos N, Hafford-Tear NJ, Malinka F, Skalicka P, Horinek A, Munier FL et al.(2019). The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis. Experimental Eye Research vol. 182, 160-166.
10.1016/j.exer.2019.03.002
Silva RS, Arno G, Cipriani V, Pontikos N, Defoort-Dhellemmes S, Kalhoro A, Carss KJ, Raymond FL et al.(2019). Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy. Human Mutation vol. 40, (5) 578-587.
10.1002/humu.23715
Silva RS, Kraft K, Arno G, Cipriani V, Heinrich V, Pontikos N, Puech B, Moore A et al. (2019). Congenital Macular Dystrophy is caused by non-coding duplications downstream of IRXAlocus. GENETICS RESEARCH. vol. 101,
Vinayaga-Pavan M, Frampton M, Pontikos N, Levine AP, Smith PJ, Jonasson JG, Björnsson ES, Segal AW et al.(2019). Elevation in Cell Cycle and Protein Metabolism Gene Transcription in Inactive Colonic Tissue from Icelandic Patients with Ulcerative Colitis. Inflammatory Bowel Diseases vol. 25, (2) 317-327.
10.1093/ibd/izy350
Sumodhee D, Povey R, Pontikos N(2019). 'It's a bit of a grey area': Challenges faced by stop smoking practitioners when advising on e-cigarettes. Journal of Smoking Cessation
10.1017/jsc.2019.25
Pontikos N, Chua S, Foster PJ, Tuft SJ, Day AC(2019). Frequency and distribution of corneal astigmatism and keratometry features in adult life: Methodology and findings of the UK Biobank study. PLoS ONE vol. 14, (9)
10.1371/journal.pone.0218144
Kameya S, Fujinami K, Ueno S, Hayashi T, Kuniyoshi K, Ideta R, Kikuchi S, Kubota D et al.(2019). Phenotypical characteristics of POC1B-associated retinopathy in Japanese cohort: Cone dystrophy with normal funduscopic appearance. Investigative Ophthalmology and Visual Science vol. 60, (10) 3432-3446.
10.1167/iovs.19-26650
Fujinami-Yokokawa Y, Pontikos N, Yang L, Tsunoda K, Yoshitake K, Iwata T, Miyata H, Fujinami K(2019). Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques. Journal of Ophthalmology vol. 2019,
10.1155/2019/1691064
Beck S, Berner AM, Bignell G, Bond M, Callanan MJ, Chervova O, Conde L, Corpas M et al.(2018). Personal Genome Project UK (PGP-UK): A research and citizen science hybrid project in support of personalized medicine. BMC Medical Genomics vol. 11, (1)
10.1186/s12920-018-0423-1
Berry V, Ionides ACW, Pontikos N, Moghul I, Moore AT, Cheetham ME, Michaelides M(2018). Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract. Eye (Basingstoke) vol. 32, (10) 1661-1668.
10.1038/s41433-018-0154-8
DOKAL I, TUMMALA H, VULLIAMY T(2018). homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes. Blood vol. 132, 1349-1353.
10.1182/blood-2018-03-837799
https://qmro.qmul.ac.uk/xmlui/handle/123456789/42823
Schiff ER, Frampton M, Ben-Yosef N, Avila BE, Semplici F, Pontikos N, Bloom SL, McCartney SA et al.(2018). Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease. Human Genetics vol. 137, (9) 723-734.
10.1007/s00439-018-1927-7
Fiorentino A, Yu J, Arno G, Pontikos N, Halford S, Broadgate S, Michaelides M, Carss KJ et al.(2018). Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa. Molecular Vision vol. 24, 603-612.
Tummala H, Dokal AD, Walne A, Ellison A, Cardoso S, Amirthasigamanipillai S, Kirwan M, Browne I et al.(2018). Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants. Proc Natl Acad Sci U S A vol. 115, (30) 7777-7782.
10.1073/pnas.1803275115
https://qmro.qmul.ac.uk/xmlui/handle/123456789/43003
Silva RS, Kraft K, Arno G, Heinrich V, Pontikos N, Cipriani V, Puech B, Moore AT et al. (2018). CRISPR-derived mouse model of North Carolina Macular Dystrophy reveals in trans tissue-specific upregulation of PRDM13. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. vol. 59,
Chopra R, Wagner SK, Fasler K, Kortuem KU, Pontikos N, Afshar F, Ramakrishnan T, Preston GC et al. (2018). Development of neovascular age-related macular degeneration in fellow eyes of patients undergoing intravitreal anti-VEGF therapy at a large tertiary ophthalmic hospital. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. vol. 59,
Afshar F, Wagner S, Fasler K, Chopra R, Kortuem KU, Pontikos N, Ramakrishnan T, Preston GC et al. (2018). Ethnic differences in presenting characteristics and visual acuity outcomes of neovascular age-related macular degeneration within an urban tertiary ophthalmic hospital. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. vol. 59,
Liskova P, Dudakova L, Evans CJ, Skalicka P, Pontikos N, Horinek A, Kubena T, Davidson A et al. (2018). Five novel ZEB1 mutations including a 0.34 Mb deletion detected by whole genome sequencing in patients with posterior polymorphous corneal dystrophy type 3. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. vol. 59,
Ramakrishnan T, Fasler K, Chopra R, Kortuem KU, Pontikos N, Wagner SK, Raja L, Al Janabi H et al. (2018). Five-year visual acuity outcomes after treatment for neovascular age-related macular degeneration at a large tertiary ophthalmic hospital. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. vol. 59,
Preston GC, Pontikos N, Afshar F, Chopra R, Wagner SK, Fasler K, Kortuem KU, Ramakrishnan T et al. (2018). Mortality of patients under anti-VEGF therapy at a large tertiary ophthalmic hospital. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. vol. 59,
Fasler K, Afshar F, Chopra R, Kortuem KU, Pontikos N, Wagner SK, Raja L, Al Janabi H et al. (2018). One and two-year visual acuity outcomes after treatment for neovascular age-related macular degeneration at a large tertiary ophthalmic hospital. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. vol. 59,
Wagner SK, Fasler K, Afshar F, Chopra R, Kortuem KU, Pontikos N, Ramakrishnan T, Preston E et al. (2018). Ranibizumab and Aflibercept: Baseline and 12-month visual outcomes of patients at a large tertiary ophthalmic hospital. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. vol. 59,
Ometto G, Moghul I, Montesano G, Hunter A, Pontikos N, Jones PR, Keane PA, Denniston AK et al. (2018). ReLayer: a free, online tool for measuring retinal thickness based on a new automatic method for the segmentation of layers in OCT images. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. vol. 59,
Pontikos N, Basheer K, Kortuem KU, Fasler K, Chopra R, Wagner SK, Patel P, Dubis AM et al. (2018). Ten Years of Optical Coherence Tomography in Ophthalmology: Current and Future Use. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. vol. 59,
Kortuem KU, Ramakrishnan T, Fasler K, Chopra R, Pontikos N, Wagner S, Raja L, Al Janabi H et al. (2018). Visual outcomes after 50 or more intravitreal anti-VEGF injections for neovascular age-related macular degeneration at a large tertiary ophthalmic hospital. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. vol. 59,
Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, Haritunians T, Neale BM et al.(2018). Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PLoS Genetics vol. 14, (5)
10.1371/journal.pgen.1007329
Berry V, Pontikos N, Moore A, Ionides ACW, Plagnol V, Cheetham ME, Michaelides M(2018). A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family. Eye (Basingstoke) vol. 32, (4) 806-812.
10.1038/eye.2017.268
Berry V, Pontikos N, Albarca-Aguilera M, Plagnol V, Massouras A, Prescott DQ, Moore AT, Arno G et al.(2018). A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract. Ophthalmic Genetics vol. 39, (2) 236-241.
10.1080/13816810.2017.1381977
Liskova P, Dudakova L, Evans CJ, Rojas Lopez KE, Pontikos N, Athanasiou D, Jama H, Sach J et al.(2018). Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. American Journal of Human Genetics vol. 102, (3) 447-459.
10.1016/j.ajhg.2018.02.002
Dudakova L, Cheong SS, Merjava SR, Skalicka P, Michalickova M, Palos M, Mahelkova G, Krizova D et al.(2018). Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization. Stem Cell Reviews and Reports vol. 14, (1) 148-151.
10.1007/s12015-017-9780-y
Hui KY, Fernandez-Hernandez H, Hu J, Schaffner A, Pankratz N, Hsu NY, Chuang LS, Carmi S et al.(2018). Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease. Science Translational Medicine vol. 10, (423)
10.1126/scitranslmed.aai7795
Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T et al.(2018). Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females. Human Mutation vol. 39, (1) 80-91.
10.1002/humu.23349
Frampton M, Schiff ER, Pontikos N, Segal AW, Levine AP(2018). Seqfam: A python package for analysis of next generation sequencing DNA data in families [version 1; peer review: 1 approved with reservations, 1 not approved]. F1000Research vol. 7,
10.12688/F1000RESEARCH.13930.1
Cipriani V, Silva RS, Arno G, Pontikos N, Kalhoro A, Valeina S, Inashkina I, Audere M et al.(2017). Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus. Scientific Reports vol. 7, (1)
10.1038/s41598-017-06387-6
Cipriani V, Kalhoro A, Arno G, Silva RS, Pontikos N, Puech V, McClements ME, Hunt DM et al.(2017). Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities. Ophthalmic Genetics vol. 38, (6) 511-519.
10.1080/13816810.2017.1289544
Mughal S, Moghul I, Yu J, Clark T, Gregory DS, Pontikos N, Black G, Hall G et al.(2017). Pheno4J: A gene to phenotype graph database. Bioinformatics vol. 33, (20) 3317-3319.
10.1093/bioinformatics/btx397
Shaw L, Ribeiro ALR, Levine AP, Pontikos N, Balloux F, Segal AW, Roberts AP, Smith AM(2017). The human salivary microbiome is shaped by shared environment rather than genetics: Evidence from a large family of closely related individuals. mBio vol. 8, (5)
10.1128/mBio.01237-17
Cardoso SR, Ellison ACM, Walne AJ, Cassiman D, Raghavan M, Kishore B, Ancliff P, Rodríguez-Vigil C et al.(2017). Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies. Haematologica vol. 102, (8) e293-e296.
10.3324/haematol.2017.167056
https://qmro.qmul.ac.uk/xmlui/handle/123456789/23183
Fiorentino A, Arno G, Pontikos N, Fujinami K, Hayashi T, Plagnol V, Cheetham ME, Iwata T et al. (2017). Mutations in the X-linked gene PRPS1 cause retinal degeneration in females. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. vol. 58,
Khan KN, El-Asrag ME, Ku CA, Holder GE, McKibbin M, Arno G, Poulter JA, Carss K et al.(2017). Specific alleles of CLN7/MFSD8, a protein that localizes to photoreceptor synaptic terminals, cause a spectrum of nonsyndromic retinal dystrophy. Investigative Ophthalmology and Visual Science vol. 58, (7) 2906-2914.
10.1167/iovs.16-20608
Xu M, Xie Y, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS et al.(2017). Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. American Journal of Human Genetics vol. 100, (4) 592-604.
10.1016/j.ajhg.2017.02.008
Taylor RL, Arno G, Poulter JA, Khan KN, Morarji J, Hull S, Pontikos N, Martin AR et al.(2017). Association of steroid 5α-reductase type 3 congenital disorder of glycosylation with early-onset retinal dystrophy. JAMA Ophthalmology vol. 135, (4) 339-347.
10.1001/jamaophthalmol.2017.0046
Pontikos N, Yu J, Moghul I, Withington L, Blanco-Kelly F, Vulliamy T, Wong TLE, Murphy C et al.(2017). Phenopolis: An open platform for harmonization and analysis of genetic and phenotypic data. Bioinformatics vol. 33, (15) 2421-2423.
10.1093/bioinformatics/btx147
https://qmro.qmul.ac.uk/xmlui/handle/123456789/62706
Vinayaga-Pavan M, Frampton M, Pontikos N, Levine A, Smith P, Jonasson J, Bjornsson E, Segal A et al. (2017). Elevation in ribosomal and cell cycle gene transcription in macroscopically normal colonic tissue from Icelandic patients with ulcerative colitis. JOURNAL OF CROHNS & COLITIS. vol. 11, S468-S469.
Cipriani V, Pontikos N, Arno G, Webster AR, Moore AT, Carss KJ, Raymond LF, Danis D et al. (2017). An Improved Bioinformatics Tool for Rare Disease Variant Prioritization: The Exomiser 9.0.1 in Clinical Practice. HUMAN HEREDITY. vol. 83, 5-6.
Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM et al.(2017). The human phenotype ontology in 2017. Nucleic Acids Research vol. 45, (D1) D865-D876.
10.1093/nar/gkw1039
https://qmro.qmul.ac.uk/xmlui/handle/123456789/18234
Cheong SS, Hentschel L, Davidson AE, Gerrelli D, Davie R, Rizzo R, Pontikos N, Plagnol V et al.(2016). Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. American Journal of Human Genetics vol. 99, (6) 1338-1352.
10.1016/j.ajhg.2016.09.022
Arno G, Agrawal SA, Eblimit A, Bellingham J, Xu M, Wang F, Chakarova C, Parfitt DA et al.(2016). Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. American Journal of Human Genetics vol. 99, (6) 1305-1315.
10.1016/j.ajhg.2016.10.008
Chuang LS, Villaverde N, Hui KY, Mortha A, Rahman A, Levine AP, Haritunians T, Evelyn Ng SM et al.(2016). A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF. Gastroenterology vol. 151, (4) 710-723.e2.
10.1053/j.gastro.2016.06.045
Levine AP, Pontikos N, Schiff ER, Jostins L, Speed D, Lovat LB, Barrett JC, Grasberger H et al.(2016). Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families. Gastroenterology vol. 151, (4) 698-709.
10.1053/j.gastro.2016.06.040
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