Gavin Arno
AuthID: R-00J-Q2W
1
TÃTULO: 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
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2024, FONTE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 111, NÚMERO: 9
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2024, FONTE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 111, NÚMERO: 9
INDEXADO EM: 
Scopus 
WOS
Scopus WOS2
TÃTULO: EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
AUTORES: 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.;
PUBLICAÇÃO: 2023, FONTE: JOURNAL OF MEDICAL GENETICS
AUTORES: 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.;
PUBLICAÇÃO: 2023, FONTE: JOURNAL OF MEDICAL GENETICS
INDEXADO EM: Scopus WOS
Scopus WOS3
TÃTULO: Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2020, FONTE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 107, NÚMERO: 5
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2020, FONTE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 107, NÚMERO: 5
INDEXADO EM: Scopus WOS
Scopus WOS