Konstantinos Nikopoulos

Publications | Mémoires et thèses

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14 publications

2023 | 2021 | 2020 | 2019 | 2016 | 2015 | 2013 |
2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman D.M., Hitti-Malin R.J., Holtes L.K., de Bruijn S.E., Reurink J., Boonen EGM, Khan M.I., Ali M., Andréasson S., De Baere E. et al., 2023. Frontiers in cell and developmental biology, 11 p. 1112270. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_09C3E6B613E5]
2021
CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels.
Gonçalves A.B., Hasselbalch S.K., Joensen B.B., Patzke S., Martens P., Ohlsen S.K., Quinodoz M., Nikopoulos K., Suleiman R., Damsø Jeppesen M.P. et al., 2021/07/14. eLife, 10 pp. e63731. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_4FDDDE485E26]
2020
Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome.
Panagiotou E.S., Papathomas T., Nikopoulos K., Koukoula S., Quinodoz M., Rehman A.U., Giannopoulos T., Rivolta C., Konstas A.G., 2020/09. Ophthalmology and therapy, 9 (3) pp. 677-684. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_2FDC1B1B06D5]
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Ascari G., Peelman F., Farinelli P., Rosseel T., Lambrechts N., Wunderlich K.A., Wagner M., Nikopoulos K., Martens P., Balikova I. et al., 2020/05. Human mutation, 41 (5) pp. 998-1011. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_508C07D85ABB]
2019
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.
Nikopoulos K., Cisarova K., Quinodoz M., Koskiniemi-Kuendig H., Miyake N., Farinelli P., Rehman A.U., Khan M.I., Prunotto A., Akiyama M. et al., 2019/06/28. Nature communications, 10 (1) p. 2884. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_5CE00AD41EAE]
 
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.
Peter V.G., Nikopoulos K., Quinodoz M., Granse L., Farinelli P., Superti-Furga A., Andréasson S., Rivolta C., 2019/04. Ophthalmic genetics, 40 (2) pp. 177-181. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_082BF22F4E9C]
Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
Verbakel S.K., van Huet RAC, den Hollander A.I., Geerlings M.J., Kersten E., Klevering B.J., Klaver CCW, Plomp A.S., Wesseling N.L., Bergen AAB et al., 2019. Investigative Ophthalmology & Visual Science, 60 (4) pp. 1192-1203. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_52A583D3093E]
2016
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Bedoni N., Haer-Wigman L., Vaclavik V., Tran V.H., Farinelli P., Balzano S., Royer-Bertrand B., El-Asrag M.E., Bonny O., Ikonomidis C. et al., 2016/10/15. Human molecular genetics, 25 (20) pp. 4546-4555. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_800C2C1B5285]
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
Nikopoulos K., Farinelli P., Giangreco B., Tsika C., Royer-Bertrand B., Mbefo M.K., Bedoni N., Kjellström U., El Zaoui I., Di Gioia S.A. et al., 2016/09/01. American journal of human genetics, 99 (3) pp. 770-776. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_4A7C86DC11B4]
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
Coppieters F., Ascari G., Dannhausen K., Nikopoulos K., Peelman F., Karlstetter M., Xu M., Brachet C., Meunier I., Tsilimbaris M.K. et al., 2016/08/04. American journal of human genetics, 99 (2) pp. 470-480. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_D94870497C06]
2015
 
A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family.
Nikopoulos K., Butt G.U., Farinelli P., Mudassar M., Domènech-Estévez E., Samara C., Kausar M., Masroor I., Chrast R., Rivolta C. et al., 2015. Clinical Genetics, 89 (4) pp. 510-511. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3BC6179470F4]
Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.
Saqib M.A., Nikopoulos K., Ullah E., Sher Khan F., Iqbal J., Bibi R., Jarral A., Sajid S., Nishiguchi K.M., Venturini G. et al., 2015. Scientific Reports, 5 p. 9965. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_98B9377D4E4A]
Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.
Nikopoulos K., Avila-Fernandez A., Corton M., Lopez-Molina M.I., Perez-Carro R., Bontadelli L., Di Gioia S.A., Zurita O., Garcia-Sandoval B., Rivolta C. et al., 2015. Scientific Reports, 5 p. 13902. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E5B61BAA557D]
2013
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
Corton M., Nishiguchi K.M., Avila-Fernández A., Nikopoulos K., Riveiro-Alvarez R., Tatu S.D., Ayuso C., Rivolta C., 2013. Plos One, 8 (6) pp. e65574.
[URN][DOI][WoS][Pmid][serval:BIB_57605D5C7CCB]
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