Gavin Arno

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 20

Top Topics

Peritoneal Dialysis

Dna Methylation

Artificial Intelligence

Top Venues

American journal of medical genetics. Part C, Seminars in medical genetics

Clinical genetics

NPJ genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Siying Lin, Anthony G Robson, Dorothy A Thompson, Karolina M Stepien, Robin Lachmann, Emma Footitt, Ola Czyz, Shwetha Chandrasekhar, Elena Schiff, Christos Iosifidis, Graeme C Black, Michel Michaelides, Omar A Mahroo, Gavin Arno, Andrew R Webster
Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity. Clinical genetics 106 (4) (2024)
Siying Lin, Anthony G Robson, Dorothy A Thompson, Karolina M Stepien, Robin Lachmann, Emma Footitt, Ola Czyz, Shwetha Chandrasekhar, Elena Schiff, Christos Iosifidis, Graeme C Black, Michel Michaelides, Omar A Mahroo, Gavin Arno, Andrew R Webster
Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity. Clinical genetics (2024)
Siying Lin, Anthony G Robson, Dorothy A Thompson, Karolina M Stepien, Robin Lachmann, Emma Footitt, Ola Czyz, Shwetha Chandrasekhar, Elena Schiff, Christos Iosifidis, Graeme C Black, Michel Michaelides, Omar A Mahroo, Gavin Arno, Andrew R Webster
Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity. Clinical genetics (2024)
Quang Nguyen, William Woof, Nathaniel Kabiri, Sagnik Sen, Malena Daich Varela, Thales Antonio Cabral de Guimaraes, Mital Shah, Dayyanah Sumodhee, Ismail Moghul, Saoud Al-Khuzaei, Yichen Liu, Catherine Hollyhead, Bhavna Tailor, Loy Lobo, Carl Veal, Stephen Archer, Jennifer Furman, Gavin Arno, Manuel Gomes, Kaoru Fujinami, Savita Madhusudhan, Omar A Mahroo, Andrew R Webster, Konstantinos Balaskas, Susan M Downes, Michel Michaelides, Nikolas Pontikos, null null
Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene). BMJ open 13 (3) (2023)
Quang Nguyen, William Woof, Nathaniel Kabiri, Sagnik Sen, Malena Daich Varela, Thales Antonio Cabral de Guimaraes, Mital Shah, Dayyanah Sumodhee, Ismail Moghul, Saoud Al-Khuzaei, Yichen Liu, Catherine Hollyhead, Bhavna Tailor, Loy Lobo, Carl Veal, Stephen Archer, Jennifer Furman, Gavin Arno, Manuel Gomes, Kaoru Fujinami, Savita Madhusudhan, Omar A Mahroo, Andrew R Webster, Konstantinos Balaskas, Susan M Downes, Michel Michaelides, Nikolas Pontikos, null null
Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene). BMJ open 13 (3) (2023)
Patricio G Schlottmann, José Domingo Luna Pinto, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José Edgardo Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M Martin, Gerardo Juan Ormaechea, M Eugenia Inga, Aníbal A Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J Nuova, Ivana B Canonero, Omar A Mahroo, Michel Michaelides, Gavin Arno, Malena Daich Varela
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina. NPJ genomic medicine 8 (1) (2023)
Quang Nguyen, William Woof, Nathaniel Kabiri, Sagnik Sen, Malena Daich Varela, Thales Antonio Cabral de Guimaraes, Mital Shah, Dayyanah Sumodhee, Ismail Moghul, Saoud Al-Khuzaei, Yichen Liu, Catherine Hollyhead, Bhavna Tailor, Loy Lobo, Carl Veal, Stephen Archer, Jennifer Furman, Gavin Arno, Manuel Gomes, Kaoru Fujinami, Savita Madhusudhan, Omar A Mahroo, Andrew R Webster, Konstantinos Balaskas, Susan M Downes, Michel Michaelides, Nikolas Pontikos, null null
Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene). BMJ open 13 (3) (2023)
Quang Nguyen, William Woof, Nathaniel Kabiri, Sagnik Sen, Malena Daich Varela, Thales Antonio Cabral de Guimaraes, Mital Shah, Dayyanah Sumodhee, Ismail Moghul, Saoud Al-Khuzaei, Yichen Liu, Catherine Hollyhead, Bhavna Tailor, Loy Lobo, Carl Veal, Stephen Archer, Jennifer Furman, Gavin Arno, Manuel Gomes, Kaoru Fujinami, Savita Madhusudhan, Omar A Mahroo, Andrew R Webster, Konstantinos Balaskas, Susan M Downes, Michel Michaelides, Nikolas Pontikos, null null
Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene). BMJ open 13 (3) (2023)
Paul W Chrystal, Nils J Lambacher, Lance P Doucette, James Bellingham, Elena R Schiff, Nicole C L Noel, Chunmei Li, Sofia Tsiropoulou, Geoffrey A Casey, Yi Zhai, Nathan J Nadolski, Mohammed H Majumder, Julia Tagoe, Fabiana D'Esposito, Maria Francesca Cordeiro, Susan Downes, Jill Clayton-Smith, Jamie M Ellingford, null null, Omar A Mahroo, Jennifer C Hocking, Michael E Cheetham, Andrew R Webster, Gert Jansen, Oliver E Blacque, W Ted Allison, Ping Yee Billie Au, Ian M MacDonald, Gavin Arno, Michel R Leroux
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision. Nature communications 13 (1) (2022)
Elena R Schiff, Nancy Aychoua, Savita Nutan, Indran Davagnanam, Anthony T Moore, Anthony G Robson, C K Patel, Andrew R Webster, Gavin Arno
Variability of retinopathy consequent upon novel mutations in LAMA1. Ophthalmic genetics 43 (5) (2022)
Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H Z Li, Robert A Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna E Weener, Theresia Zuleger, Tobias B Haack, Katarina Stingl, null null, Carel B Hoyng, Omar A Mahroo, Iain Hargreaves, F Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R Webster, Gavin Arno
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype. NPJ genomic medicine 7 (1) (2022)
Eleanor Hay, Robert H Henderson, Sahar Mansour, Charu Deshpande, Rachel Jones, Savita Nutan, Kshitij Mankad, Rodrigo M Young, Mariya Moosajee, Genomics England Research Consortium, Gavin Arno
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants. Clinical genetics 98 (2) (2021)
Kaoru Fujinami, Xiao Liu, Shinji Ueno, Atsushi Mizota, Kei Shinoda, Kazuki Kuniyoshi, Yu Fujinami-Yokokawa, Lizhu Yang, Gavin Arno, Nikolas Pontikos, Shuhei Kameya, Taro Kominami, Hiroko Terasaki, Hiroyuki Sakuramoto, Natsuko Nakamura, Toshihide Kurihara, Kazuo Tsubota, Yozo Miyake, Kazutoshi Yoshiake, Takeshi Iwata, Kazushige Tsunoda, null null
RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association. American journal of medical genetics. Part C, Seminars in medical genetics 184 (3) (2020)
Robert B Hufnagel, Michael A Walter, Gavin Arno
Introduction to the special issue on Ophthalmic Genetics: Vision in 2020. American journal of medical genetics. Part C, Seminars in medical genetics 184 (3) (2020)
Kaoru Fujinami, Akio Oishi, Lizhu Yang, Gavin Arno, Nikolas Pontikos, Kazutoshi Yoshitake, Yu Fujinami-Yokokawa, Xiao Liu, Takaaki Hayashi, Satoshi Katagiri, Kei Mizobuchi, Atsushi Mizota, Kei Shinoda, Natsuko Nakamura, Toshihide Kurihara, Kazuo Tsubota, Yozo Miyake, Takeshi Iwata, Akitaka Tsujikawa, Kazushige Tsunoda, null null
Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population. American journal of medical genetics. Part C, Seminars in medical genetics 184 (3) (2020)
Juliana Maria Ferraz Sallum, Fabiana Louise Motta, Gavin Arno, Fernanda Belga Ottoni Porto, Rosane Guazi Resende, Rubens Belfort
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. American journal of medical genetics. Part C, Seminars in medical genetics 184 (3) (2020)
Elena R Schiff, Malena Daich Varela, Anthony G Robson, Karen Pierpoint, Rola Ba-Abbad, Savita Nutan, Wadih M Zein, Ehsan Ullah, Laryssa A Huryn, Sari Tuupanen, Omar A Mahroo, Michel Michaelides, Derek Burke, Katie Harvey, Gavin Arno, Robert B Hufnagel, Andrew R Webster
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis. American journal of medical genetics. Part C, Seminars in medical genetics 184 (3) (2020)
Michael A Walter, Tayebeh Rezaie, Robert B Hufnagel, Gavin Arno
Ocular genetics in the genomics age. American journal of medical genetics. Part C, Seminars in medical genetics 184 (3) (2020)
James Fasham, Gavin Arno, Siying Lin, Mingchu Xu, Keren J Carss, Sarah Hull, Amelia Lane, Anthony G Robson, Olivia Wenger, Jay E Self, Gaurav V Harlalka, Claire G Salter, Lynn Schema, Timothy J Moss, Michael E Cheetham, Anthony T Moore, F Lucy Raymond, Rui Chen, Andrew H Crosby, Andrew R Webster, Andrew H Crosby, null null
Delineating the expanding phenotype associated with SCAPER gene mutation. American journal of medical genetics. Part A 179 (8) (2019)
Raquel Sofia Silva, Gavin Arno, Valentina Cipriani, Nikolas Pontikos, Sabine Defoort-Dhellemmes, Ambreen Kalhoro, Keren J Carss, F Lucy Raymond, Claire Marie Dhaenens, Hanne Jensen, Thomas Rosenberg, Veronica Van Heyningen, Anthony T Moore, Bernard Puech, Andrew R Webster
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy. Human mutation 40 (5) (2019)