Susan M Downes

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 21

Top Topics

Dna Methylation

Age Related Macular Degeneration

Artificial Intelligence

Top Venues

Therapeutic advances in ophthalmology

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

Publications

Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
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)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Jennifer Kirkby, Stephanie Halford, Morag Shanks, Anthony Moore, Anthony Gait, Lucy Jenkins, Penny Clouston, Chetan K Patel, Susan M Downes
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1 , and Skewed X-Inactivation. Genes 14 (6) (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)
Peter Kiraly, Charles L Cottriall, Laura J Taylor, Jasleen Kaur Jolly, Jasmina Cehajic-Kapetanovic, Imran H Yusuf, Cristina Martinez-Fernandez de la Camara, Morag Shanks, Susan M Downes, Robert E MacLaren, M Dominik Fischer
Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65 -Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center. Biomolecules 13 (10) (2023)
Jennifer Kirkby, Stephanie Halford, Morag Shanks, Anthony Moore, Anthony Gait, Lucy Jenkins, Penny Clouston, Chetan K Patel, Susan M Downes
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1 , and Skewed X-Inactivation. Genes 14 (6) (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)
Jennifer Kirkby, Stephanie Halford, Morag Shanks, Anthony Moore, Anthony Gait, Lucy Jenkins, Penny Clouston, Chetan K Patel, Susan M Downes
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1 , and Skewed X-Inactivation. Genes 14 (6) (2023)
Jennifer Kirkby, Stephanie Halford, Morag Shanks, Anthony Moore, Anthony Gait, Lucy Jenkins, Penny Clouston, Chetan K Patel, Susan M Downes
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1 , and Skewed X-Inactivation. Genes 14 (6) (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)
Helena M Feenstra, Saoud Al-Khuzaei, Mital Shah, Suzanne Broadgate, Morag Shanks, Archith Kamath, Jing Yu, Jasleen Kaur Jolly, Robert E MacLaren, Penny Clouston, Stephanie Halford, Susan M Downes
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes. Genes 13 (8) (2022)
Colm D Andrews, Aislin A Sheldon, Holly Bridge, Susan M Downes, Robert E MacLaren, Jasleen Kaur Jolly
Rapid Quantification of the Binocular Visual Field for Clinical Trials: Performance of a Modified Esterman Supra-Threshold Test Implemented with the Open Perimetry Interface. Clinical ophthalmology (Auckland, N.Z.) 16 (2022)
Saoud Al-Khuzaei, Suzanne Broadgate, Charlotte R Foster, Mital Shah, Jing Yu, Susan M Downes, Stephanie Halford
An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story. Genes 12 (8) (2021)
Saoud Al-Khuzaei, Mital Shah, Charlotte R Foster, Jing Yu, Suzanne Broadgate, Stephanie Halford, Susan M Downes
The role of multimodal imaging and vision function testing in ABCA4 -related retinopathies and their relevance to future therapeutic interventions. Therapeutic advances in ophthalmology 13 (2021)
Saoud Al-Khuzaei, Karl A Z Hudspith, Suzanne Broadgate, Morag E Shanks, Penny Clouston, Andrea H Németh, Stephanie Halford, Susan M Downes
Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report. BMC ophthalmology 21 (1) (2021)
Susan M Downes, Tham Nguyen, Vicky Tai, Suzanne Broadgate, Mital Shah, Saoud Al-Khuzaei, Robert E MacLaren, Morag Shanks, Penny Clouston, Stephanie Halford
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL. Genes 11 (12) (2020)