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Author/Creator Pontikos, Nikolas

21. RP2‐associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype–phenotype association. Issue 3 (1st September 2020)

Authors:
Fujinami, Kaoru; Liu, Xiao; Ueno, Shinji; Mizota, Atsushi; Shinoda, Kei; Kuniyoshi, Kazuki; Fujinami‐Yokokawa, Yu; Yang, Lizhu; Arno, Gavin; Pontikos, Nikolas; Kameya, Shuhei; Kominami, Taro; Terasaki, Hiroko; Sakuramoto, Hiroyuki; Nakamura, Natsuko; Kurihara, Toshihide; Tsubota, Kazuo; Miyake, Y...
Other Names:
Hufnagel Robert guestEditor.; Walter Michael guestEditor.; Arno Gavin guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 184:Issue 3(2020)
Page Start:
675
Record Type:
Journal Article
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22. The Human Phenotype Ontology in 2017. Issue Volume 45:Issue D1(2017) (24th November 2016)

Authors:
Köhler, Sebastian; Vasilevsky, Nicole A.; Engelstad, Mark; Foster, Erin; McMurry, Julie; Aymé, Ségolène; Baynam, Gareth; Bello, Susan M.; Boerkoel, Cornelius F.; Boycott, Kym M.; Brudno, Michael; Buske, Orion J.; Chinnery, Patrick F.; Cipriani, Valentina; Connell, Laureen E.; Dawkins, Hugh J.S.; ...
Journal:
Nucleic acids research
Issue:
Volume 45:Issue D1(2017)
Page Start:
D865
Record Type:
Journal Article
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23. The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis. (May 2019)

Authors:
Dudakova, Lubica; Evans, Cerys J.; Pontikos, Nikolas; Hafford-Tear, Nathaniel J.; Malinka, Frantisek; Skalicka, Pavlina; Horinek, Ales; Munier, Francis L.; Voide, Nathalie; Studeny, Pavel; Vanikova, Lucia; Kubena, Tomas; Rojas Lopez, Karla E.; Davidson, Alice E.; Hardcastle, Alison J.; Tuft, Step...
Journal:
Experimental eye research
Issue:
Volume 182(2019)
Page Start:
160
Record Type:
Journal Article
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24. The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies. (May 2021)

Authors:
De Silva, Samantha R.; Arno, Gavin; Robson, Anthony G.; Fakin, Ana; Pontikos, Nikolas; Mohamed, Moin D.; Bird, Alan C.; Moore, Anthony T.; Michaelides, Michel; Webster, Andrew R.; Mahroo, Omar A.
Journal:
Progress in retinal and eye research
Issue:
Volume 82(2021)
Page Start:
Record Type:
Journal Article
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25. Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy. Issue 5 (14th February 2019)

Authors:
Silva, Raquel S.; Arno, Gavin; Cipriani, Valentina; Pontikos, Nikolas; Defoort‐Dhellemmes, Sabine; Kalhoro, Ambreen; Carss, Keren J.; Raymond, F. Lucy; Dhaenens, Claire Marie; Jensen, Hanne; Rosenberg, Thomas; van Heyningen, Veronica; Moore, Anthony T.; Puech, Bernard; Webster, Andrew R.
Journal:
Human mutation
Issue:
Volume 40:Issue 5(2019)
Page Start:
578
Record Type:
Journal Article
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