Gavin Arno
AuthID: R-00J-Q2W
1
TITLE: Substitution of a single non-coding nucleotide upstream of<i> TMEM216</i> causes non-syndromic retinitis pigmentosa and is associated with reduced<i> TMEM216</i> expression
AUTHORS: Malka, Samantha; Biswas, Pooja; Berry, Anne Marie; Sangermano, Riccardo; Ullah, Mukhtar; Lin, Siying; D'Antonio, Matteo; Jestin, Aleksandr; Jiao, Xiaodong; Quinodoz, Mathieu; Sullivan, Lori; Gardner, Jessica C.; Place, Emily M.; Michaelides, Michel; Kaminska, Karolina; Mahroo, Omar A.; Schiff, Elena; Wright, Genevieve; Cancellieri, Francesca; Vaclavik, Veronika; ...More
PUBLISHED: 2024, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 111, ISSUE: 9
AUTHORS: Malka, Samantha; Biswas, Pooja; Berry, Anne Marie; Sangermano, Riccardo; Ullah, Mukhtar; Lin, Siying; D'Antonio, Matteo; Jestin, Aleksandr; Jiao, Xiaodong; Quinodoz, Mathieu; Sullivan, Lori; Gardner, Jessica C.; Place, Emily M.; Michaelides, Michel; Kaminska, Karolina; Mahroo, Omar A.; Schiff, Elena; Wright, Genevieve; Cancellieri, Francesca; Vaclavik, Veronika; ...More
PUBLISHED: 2024, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 111, ISSUE: 9
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
AUTHORS: Iglesias Romero, Ana Belen; Kaminska, Karolina; Quinodoz, Mathieu; Folcher, Marc; Lin, Siying; Arno, Gavin; Calado, Joaquim; Webster, Andrew R.; Moulin, Alexandre; Sousa, Ana Berta; Coutinho Santos, Luisa; Santos, Cristina; Rivolta, Carlo;
PUBLISHED: 2024, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 111, ISSUE: 10
AUTHORS: Iglesias Romero, Ana Belen; Kaminska, Karolina; Quinodoz, Mathieu; Folcher, Marc; Lin, Siying; Arno, Gavin; Calado, Joaquim; Webster, Andrew R.; Moulin, Alexandre; Sousa, Ana Berta; Coutinho Santos, Luisa; Santos, Cristina; Rivolta, Carlo;
PUBLISHED: 2024, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 111, ISSUE: 10
3
TITLE: EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
AUTHORS: Lenassi, Eva; Carvalho, Ana; Thormann, Anja; Abrahams, Liam; Arno, Gavin; Fletcher, Tracy; Hardcastle, Claire; Lopez, Javier; Hunt, Sarah E.; Short, Patrick; Sergouniotis, Panagiotis, I; Michaelides, Michel; Webster, Andrew; Cunningham, Fiona; Ramsden, Simon C.; Kasperaviciute, Dalia; Fitzpatrick, David R.; Genomics England Res Consortium, Graeme C.; Black, Graeme C.; Ellingford, Jamie M.;
PUBLISHED: 2023, SOURCE: JOURNAL OF MEDICAL GENETICS
AUTHORS: Lenassi, Eva; Carvalho, Ana; Thormann, Anja; Abrahams, Liam; Arno, Gavin; Fletcher, Tracy; Hardcastle, Claire; Lopez, Javier; Hunt, Sarah E.; Short, Patrick; Sergouniotis, Panagiotis, I; Michaelides, Michel; Webster, Andrew; Cunningham, Fiona; Ramsden, Simon C.; Kasperaviciute, Dalia; Fitzpatrick, David R.; Genomics England Res Consortium, Graeme C.; Black, Graeme C.; Ellingford, Jamie M.;
PUBLISHED: 2023, SOURCE: JOURNAL OF MEDICAL GENETICS
INDEXED IN: Scopus WOS
Scopus WOS4
TITLE: Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
AUTHORS: Suzanne E de Bruijn; Alessia Fiorentino; Daniele Ottaviani; Stephanie Fanucchi; Uira S Melo; Julio C Corral Serrano; Timo Mulders; Michalis Georgiou; Carlo Rivolta; Nikolas Pontikos; Gavin Arno; Lisa Roberts; Jacquie Greenberg; Silvia Albert; Christian Gilissen; Marco Aben; George Rebello; Simon Mead; Lucy L Raymond; Jordi Corominas; ...More
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 107, ISSUE: 5
AUTHORS: Suzanne E de Bruijn; Alessia Fiorentino; Daniele Ottaviani; Stephanie Fanucchi; Uira S Melo; Julio C Corral Serrano; Timo Mulders; Michalis Georgiou; Carlo Rivolta; Nikolas Pontikos; Gavin Arno; Lisa Roberts; Jacquie Greenberg; Silvia Albert; Christian Gilissen; Marco Aben; George Rebello; Simon Mead; Lucy L Raymond; Jordi Corominas; ...More
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 107, ISSUE: 5
INDEXED IN: Scopus WOS
Scopus WOS