Malena Daich Varela

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 19

Top Topics

Artificial Intelligence

Top Venues

The British journal of ophthalmology

Ophthalmic genetics

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

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

Publications

William Woof, Thales Antonio Cabral de Guimaraes, Saoud Al-Khuzaei, Malena Daich Varela, Sagnik Sen, Pallavi Bagga, Bernardo Mendes, Mital Shah, Paula Burke, David Parry, Siying Lin, Gunjan Naik, Biraja Ghoshal, Bart Liefers, Dun Jack Fu, Michalis Georgiou, Quang Nguyen, Alan Sousa da Silva, Yichen Liu, Yu Fujinami-Yokokawa, Nathaniel Kabiri, Dayyanah Sumodhee, Praveen J Patel, Jennifer Furman, Ismail Moghul, Juliana Maria Ferraz Sallum, Samantha Roshani De Silva, Birgit Lorenz, Frank G Holz, Kaoru Fujinami, Andrew R Webster, Omar A Mahroo, Susan M Downes, Savita Madhusudhan, Konstantinos Balaskas, Michel Michaelides, Nikolas Pontikos
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United Kingdom. medRxiv : the preprint server for health sciences (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)
Malena Daich Varela, Michel Michaelides
RDH12 retinopathy: clinical features, biology, genetics and future directions. Ophthalmic genetics (2022)
Malena Daich Varela, Anastasios Georgiadis, Michel Michaelides
Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes. The British journal of ophthalmology (2022)
Federico M Fernández Mancebo, M Eugenia Inga, Malena Daich Varela
Multimodal evaluation of osteosarcoma choroidal metastasis. European journal of ophthalmology (2022)
Malena Daich Varela, James Bellingham, Fabiana Motta, Neringa Jurkute, Jamie M Ellingford, Mathieu Quinodoz, Kathryn Oprych, Michael Niblock, Lucas Janeschitz-Kriegl, Karolina Kaminska, Francesca Cancellieri, Hendrik P N Scholl, Eva Lenassi, Elena Schiff, Hannah Knight, Graeme Black, Carlo Rivolta, Michael E Cheetham, Michel Michaelides, Omar A Mahroo, Anthony T Moore, Andrew R Webster, Gavin Arno
Multi-disciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies. Human molecular genetics (2022)
Thales Antonio Cabral de Guimaraes, Malena Daich Varela, Michalis Georgiou, Michel Michaelides
Treatments for dry age-related macular degeneration: therapeutic avenues, clinical trials and future directions. The British journal of ophthalmology (2021)
Malena Daich Varela, Robert B Hufnagel, Bin Guan, Delphine Blain, Julie C Sapp, Andrea L Gropman, Ramakrishna Alur, Jennifer J Johnston, Leslie G Biesecker, Brian P Brooks
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism. Ophthalmic genetics 42 (3) (2021)
Malena Daich Varela, Thales Antonio Cabral de Guimaraes, Michalis Georgiou, Michel Michaelides
Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials. The British journal of ophthalmology (2021)
Malena Daich Varela, Burak Esener, Shaima A Hashem, Thales Antonio Cabral de Guimaraes, Michalis Georgiou, Michel Michaelides
Structural evaluation in inherited retinal diseases. The British journal of ophthalmology 105 (12) (2021)
Malena Daich Varela, Michalis Georgiou, Shaima A Hashem, Richard G Weleber, Michel Michaelides
Functional evaluation in inherited retinal disease. The British journal of ophthalmology (2021)
Malena Daich Varela, Fabiana Louise Motta, Andrew R Webster, Gavin Arno
A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome. Ophthalmic genetics (2021)
Malena Daich Varela, Wadih M Zein, Camilo Toro, Catherine Groden, Jean Johnston, Laryssa A Huryn, Alessandra d'Azzo, Cynthia J Tifft, Edmond J FitzGibbon
A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot. The British journal of ophthalmology 105 (6) (2020)
Malena Daich Varela, Rene Moya, Patricio G Schlottmann, Robert B Hufnagel, Claudia Arberas, Federico M Fernández, M Eugenia Inga, Juliana Lores, Harry Pachajoa, Carlos E Prada, Juliana M Ferraz Sallum
Ophthalmic genetics in South America. American journal of medical genetics. Part C, Seminars in medical genetics 184 (3) (2020)
Malena Daich Varela, Priyam Jani, Wadih M Zein, Precilla D'Souza, Lynne Wolfe, Jennifer Chisholm, Christopher Zalewski, David Adams, Blake M Warner, Laryssa A Huryn, Robert B Hufnagel
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature. American journal of medical genetics. Part C, Seminars in medical genetics 184 (3) (2020)