Rebekkah J Hitti-Malin

Publication Activity (10 Years)

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

Top Topics

Single Molecule

Age Related Macular Degeneration

Computed Tomography

Top Venues

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)
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)
Benjamin McClinton, Zelia Corradi, Martin McKibbin, Daan M Panneman, Susanne Roosing, Erica G M Boonen, Manir Ali, Christopher Mark Watson, David H Steel, Frans P M Cremers, Chris F Inglehearn, Rebekkah J Hitti-Malin, Carmel Toomes
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK. Genes 14 (1) (2023)
Benjamin McClinton, Zelia Corradi, Martin McKibbin, Daan M Panneman, Susanne Roosing, Erica G M Boonen, Manir Ali, Christopher Mark Watson, David H Steel, Frans P M Cremers, Chris F Inglehearn, Rebekkah J Hitti-Malin, Carmel Toomes
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK. Genes 14 (1) (2023)
Benjamin McClinton, Zelia Corradi, Martin McKibbin, Daan M Panneman, Susanne Roosing, Erica G M Boonen, Manir Ali, Christopher Mark Watson, David H Steel, Frans P M Cremers, Chris F Inglehearn, Rebekkah J Hitti-Malin, Carmel Toomes
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK. Genes 14 (1) (2023)
Rebekkah J Hitti-Malin, Claire-Marie Dhaenens, Daan M Panneman, Zelia Corradi, Mubeen Khan, Anneke I den Hollander, G Jane Farrar, Christian Gilissen, Alexander Hoischen, Maartje van de Vorst, Femke Bults, Erica G M Boonen, Patrick Saunders, null null, Susanne Roosing, Frans P M Cremers
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases. Human mutation (2022)
Rebekkah J Hitti-Malin, Louise M Burmeister, Sally L Ricketts, Thomas W Lewis, Louise Pettitt, Mike Boursnell, Ellen C Schofield, David Sargan, Cathryn S Mellersh
A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs. BMC genetics 21 (1) (2020)