Solving missing heritability in inherited retinal diseases using integrated omics and gene editing in human cellular and animal models
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Titel: Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases
Auteur: Fadaie, Z., Whelan, L., Ben-Yosef, T., Dockery, A., Corradi, Z., Gilissen, C., Haer-Wigman, L., Corominas, J., Astuti, G. D. N,. de Rooij, L., van den Born, L. I., Klaver, C. C. W., Hoyng, C.B., Wynne, N., Duignan, E. S., Kenna, P. F., Cremers, F. P. M., Farrar, G. J., Roosing, S.
Magazine: NPJ Genome Medicine
Begin- en eindpagina: 97-97
Link: https://pubmed.ncbi.nlm.nih.gov/34795310/
Auteur: Fadaie, Z., Whelan, L., Ben-Yosef, T., Dockery, A., Corradi, Z., Gilissen, C., Haer-Wigman, L., Corominas, J., Astuti, G. D. N,. de Rooij, L., van den Born, L. I., Klaver, C. C. W., Hoyng, C.B., Wynne, N., Duignan, E. S., Kenna, P. F., Cremers, F. P. M., Farrar, G. J., Roosing, S.
Magazine: NPJ Genome Medicine
Begin- en eindpagina: 97-97
Link: https://pubmed.ncbi.nlm.nih.gov/34795310/
Titel: Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
Auteur: Panneman, D. M., Hitti-Malin, R. J., Holtes, L. K., de Bruijn, S. E., Reurink, J., Boonen, E. G. M., Khan, M. I., Ali, M., Andréasson, S., De Baere, E., Banfi, S., Bauwens, M., Ben-Yosef, T., Bocquet, B., De Bruyne, M,. de la Cerda, B., Coppieters, F., Farinelli, P., Guignard, T., Inglehearn, C. F., Karali, M., Kjellström, U., Koenekoop, R., de Koning, B., Leroy, B. P., McKibbin, M., Meunier, I., Nikopoulos, K., Nishiguchi, K. M., Poulter, J. A., Rivolta, C., and 17 co-authors
Magazine: Front. Cell Dev. Biol.
Begin- en eindpagina: 1112270-1112270
Link: https://pubmed.ncbi.nlm.nih.gov/36819107/
Auteur: Panneman, D. M., Hitti-Malin, R. J., Holtes, L. K., de Bruijn, S. E., Reurink, J., Boonen, E. G. M., Khan, M. I., Ali, M., Andréasson, S., De Baere, E., Banfi, S., Bauwens, M., Ben-Yosef, T., Bocquet, B., De Bruyne, M,. de la Cerda, B., Coppieters, F., Farinelli, P., Guignard, T., Inglehearn, C. F., Karali, M., Kjellström, U., Koenekoop, R., de Koning, B., Leroy, B. P., McKibbin, M., Meunier, I., Nikopoulos, K., Nishiguchi, K. M., Poulter, J. A., Rivolta, C., and 17 co-authors
Magazine: Front. Cell Dev. Biol.
Begin- en eindpagina: 1112270-1112270
Link: https://pubmed.ncbi.nlm.nih.gov/36819107/
Titel: ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease
Auteur: Rodríguez-Hidalgo, M., de Bruijn, S. E., Corradi, Z., Rodenburg, K., Lara-López, A., Valverde-Megías, A., Ávila-Fernández, A., Fernandez-Caballero, L., Del Pozo-Valero, M., Corominas, J., Gilissen, C., Irigoyen, C., Cremers, F. P. M., Ayuso, C., Ruiz-Ederra, J., Roosing, S.
Magazine: Front. Cell Dev. Biol.
Begin- en eindpagina: 1112270-1112270
Link: https://pubmed.ncbi.nlm.nih.gov/37779911/
Auteur: Rodríguez-Hidalgo, M., de Bruijn, S. E., Corradi, Z., Rodenburg, K., Lara-López, A., Valverde-Megías, A., Ávila-Fernández, A., Fernandez-Caballero, L., Del Pozo-Valero, M., Corominas, J., Gilissen, C., Irigoyen, C., Cremers, F. P. M., Ayuso, C., Ruiz-Ederra, J., Roosing, S.
Magazine: Front. Cell Dev. Biol.
Begin- en eindpagina: 1112270-1112270
Link: https://pubmed.ncbi.nlm.nih.gov/37779911/
Titel: Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes
Auteur: de Bruijn, S. E., Rodenburg, K., Corominas, J., Ben-Yosef, T., Reurink, J., Kremer, H., Whelan, L., Plomp, A. S., Berger, W., Farrar, G. J., Ferenc Kovács, Á., Fajardy, I., Hitti-Malin, R. J., Weisschuh, N., Weener, M. E., Sharon, D., Pennings, R. J. E., Haer-Wigman, L., Hoyng, C. B., Nelen, M. R., Vissers, L. E. L. M., van den Born, L. I., Gilissen, C., Cremers, F. P. M., Hoischen, A., Neveling, K., Roosing, S.
Magazine: Genetics in Medicine
Begin- en eindpagina: 100345-100345
Link: https://pubmed.ncbi.nlm.nih.gov/36524988/
Auteur: de Bruijn, S. E., Rodenburg, K., Corominas, J., Ben-Yosef, T., Reurink, J., Kremer, H., Whelan, L., Plomp, A. S., Berger, W., Farrar, G. J., Ferenc Kovács, Á., Fajardy, I., Hitti-Malin, R. J., Weisschuh, N., Weener, M. E., Sharon, D., Pennings, R. J. E., Haer-Wigman, L., Hoyng, C. B., Nelen, M. R., Vissers, L. E. L. M., van den Born, L. I., Gilissen, C., Cremers, F. P. M., Hoischen, A., Neveling, K., Roosing, S.
Magazine: Genetics in Medicine
Begin- en eindpagina: 100345-100345
Link: https://pubmed.ncbi.nlm.nih.gov/36524988/
Titel: ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease
Auteur: Corradi, Z., Salameh, M., Khan, M., Héon, E., Mishra, K., Hitti-Malin, R. J., AlSwaiti, Y., Aslanian, A., Banin, E., Brooks, B. P., Zein, W. M., Hufnagel, R. B., Roosing, S., Dhaenens, C. M., Sharon, D., Cremers, F. P. M., AlTalbishi, A.
Magazine: Invest. Ophthalmol. Vis. Sci.
Begin- en eindpagina: 20-20
Link: https://pubmed.ncbi.nlm.nih.gov/35475888/
Auteur: Corradi, Z., Salameh, M., Khan, M., Héon, E., Mishra, K., Hitti-Malin, R. J., AlSwaiti, Y., Aslanian, A., Banin, E., Brooks, B. P., Zein, W. M., Hufnagel, R. B., Roosing, S., Dhaenens, C. M., Sharon, D., Cremers, F. P. M., AlTalbishi, A.
Magazine: Invest. Ophthalmol. Vis. Sci.
Begin- en eindpagina: 20-20
Link: https://pubmed.ncbi.nlm.nih.gov/35475888/
Titel: Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases
Auteur: Hitti-Malin, R. J., Dhaenens, C. M., Panneman, D. M., Corradi, Z., Khan, M., den Hollander, A. I., Farrar, G. J., Gilissen, C., Hoischen, A., van de Vorst, M., Bults, F., Boonen, E. G. M., Saunders, P., MD Study Group, Roosing, S., Cremers, F. P. M.
Magazine: Human Mutation
Begin- en eindpagina: 2234-2250
Link: https://pubmed.ncbi.nlm.nih.gov/36259723/
Auteur: Hitti-Malin, R. J., Dhaenens, C. M., Panneman, D. M., Corradi, Z., Khan, M., den Hollander, A. I., Farrar, G. J., Gilissen, C., Hoischen, A., van de Vorst, M., Bults, F., Boonen, E. G. M., Saunders, P., MD Study Group, Roosing, S., Cremers, F. P. M.
Magazine: Human Mutation
Begin- en eindpagina: 2234-2250
Link: https://pubmed.ncbi.nlm.nih.gov/36259723/
Titel: Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
Auteur: Corradi, Z., Khan, M., Hitti-Malin, R., Mishra, K, Whelan, L., Cornelis, S. S., ABCA4-Study Group, Hoyng, C. B., Kämpjärvi, K., Klaver, C. C. W., Liskova, P., Stohr, H., Weber, B. H. F., Banfi, S., Farrar, G. J., Sharon, D., Zernant, J., Allikmets, R., Dhaenens, C-M., Cremers, F. P. M.
Magazine: HGG Advances
Begin- en eindpagina: 100237-100237
Link: https://pubmed.ncbi.nlm.nih.gov/37705246/
Auteur: Corradi, Z., Khan, M., Hitti-Malin, R., Mishra, K, Whelan, L., Cornelis, S. S., ABCA4-Study Group, Hoyng, C. B., Kämpjärvi, K., Klaver, C. C. W., Liskova, P., Stohr, H., Weber, B. H. F., Banfi, S., Farrar, G. J., Sharon, D., Zernant, J., Allikmets, R., Dhaenens, C-M., Cremers, F. P. M.
Magazine: HGG Advances
Begin- en eindpagina: 100237-100237
Link: https://pubmed.ncbi.nlm.nih.gov/37705246/
Titel: Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK
Auteur: Mc Clinton, B., Corradi, C., McKibbin, M., Panneman, D., Roosing, S., Boonen, E. G. M., Ali, M., Watson, C. M., Steel, D., Cremers, F. P. M., Inglehearn, C., Hitti-Malin, R. J., Toomes, C.
Magazine: Genes
Begin- en eindpagina: 191-191
Link: https://pubmed.ncbi.nlm.nih.gov/36672932/
Auteur: Mc Clinton, B., Corradi, C., McKibbin, M., Panneman, D., Roosing, S., Boonen, E. G. M., Ali, M., Watson, C. M., Steel, D., Cremers, F. P. M., Inglehearn, C., Hitti-Malin, R. J., Toomes, C.
Magazine: Genes
Begin- en eindpagina: 191-191
Link: https://pubmed.ncbi.nlm.nih.gov/36672932/
Titel: Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases
Auteur: Fadaie, Z., Whelan, L., Ben-Yosef, T., Dockery, A., Corradi, Z., Gilissen, C., Haer-Wigman, L., Corominas, J., Astuti, G. D. N,. de Rooij, L., van den Born, L. I., Klaver, C. C. W., Hoyng, C.B., Wynne, N., Duignan, E. S., Kenna, P. F., Cremers, F. P. M., Farrar, G. J., Roosing, S.
Magazine: NPJ Genome Medicine
Begin- en eindpagina: 97-97
Link: https://pubmed.ncbi.nlm.nih.gov/34795310/
Auteur: Fadaie, Z., Whelan, L., Ben-Yosef, T., Dockery, A., Corradi, Z., Gilissen, C., Haer-Wigman, L., Corominas, J., Astuti, G. D. N,. de Rooij, L., van den Born, L. I., Klaver, C. C. W., Hoyng, C.B., Wynne, N., Duignan, E. S., Kenna, P. F., Cremers, F. P. M., Farrar, G. J., Roosing, S.
Magazine: NPJ Genome Medicine
Begin- en eindpagina: 97-97
Link: https://pubmed.ncbi.nlm.nih.gov/34795310/
Titel: Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes
Auteur: de Bruijn, S. E., Rodenburg, K., Corominas, J., Ben-Yosef, T., Reurink, J., Kremer, H., Whelan, L., Plomp, A. S., Berger, W., Farrar, G. J., Ferenc Kovács, Á., Fajardy, I., Hitti-Malin, R. J., Weisschuh, N., Weener, M. E., Sharon, D., Pennings, R. J. E., Haer-Wigman, L., Hoyng, C. B., Nelen, M. R., Vissers, L. E. L. M., van den Born, L. I., Gilissen, C., Cremers, F. P. M., Hoischen, A., Neveling, K., Roosing, S.
Magazine: Genetics in Medicine
Begin- en eindpagina: 100345-100345
Link: https://pubmed.ncbi.nlm.nih.gov/36524988/
Auteur: de Bruijn, S. E., Rodenburg, K., Corominas, J., Ben-Yosef, T., Reurink, J., Kremer, H., Whelan, L., Plomp, A. S., Berger, W., Farrar, G. J., Ferenc Kovács, Á., Fajardy, I., Hitti-Malin, R. J., Weisschuh, N., Weener, M. E., Sharon, D., Pennings, R. J. E., Haer-Wigman, L., Hoyng, C. B., Nelen, M. R., Vissers, L. E. L. M., van den Born, L. I., Gilissen, C., Cremers, F. P. M., Hoischen, A., Neveling, K., Roosing, S.
Magazine: Genetics in Medicine
Begin- en eindpagina: 100345-100345
Link: https://pubmed.ncbi.nlm.nih.gov/36524988/
Titel: Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
Auteur: Panneman, D. M., Hitti-Malin, R. J., Holtes, L. K., de Bruijn, S. E., Reurink, J., Boonen, E. G. M., Khan, M. I., Ali, M., Andréasson, S., De Baere, E., Banfi, S., Bauwens, M., Ben-Yosef, T., Bocquet, B., De Bruyne, M,. de la Cerda, B., Coppieters, F., Farinelli, P., Guignard, T., Inglehearn, C. F., Karali, M., Kjellström, U., Koenekoop, R., de Koning, B., Leroy, B. P., McKibbin, M., Meunier, I., Nikopoulos, K., Nishiguchi, K. M., Poulter, J. A., Rivolta, C., and 17 co-authors
Magazine: Frontiers Cell Development Biology
Begin- en eindpagina: 1112270-1112270
Link: https://pubmed.ncbi.nlm.nih.gov/36819107/
Auteur: Panneman, D. M., Hitti-Malin, R. J., Holtes, L. K., de Bruijn, S. E., Reurink, J., Boonen, E. G. M., Khan, M. I., Ali, M., Andréasson, S., De Baere, E., Banfi, S., Bauwens, M., Ben-Yosef, T., Bocquet, B., De Bruyne, M,. de la Cerda, B., Coppieters, F., Farinelli, P., Guignard, T., Inglehearn, C. F., Karali, M., Kjellström, U., Koenekoop, R., de Koning, B., Leroy, B. P., McKibbin, M., Meunier, I., Nikopoulos, K., Nishiguchi, K. M., Poulter, J. A., Rivolta, C., and 17 co-authors
Magazine: Frontiers Cell Development Biology
Begin- en eindpagina: 1112270-1112270
Link: https://pubmed.ncbi.nlm.nih.gov/36819107/
Titel: Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK
Auteur: Mc Clinton, B., Corradi, C., McKibbin, M., Panneman, D., Roosing, S., Boonen, E. G. M., Ali, M., Watson, C. M., Steel, D., Cremers, F. P. M., Inglehearn, C., Hitti-Malin, R. J., Toomes, C.
Magazine: Genes
Begin- en eindpagina: 191-191
Link: https://pubmed.ncbi.nlm.nih.gov/36672932/
Auteur: Mc Clinton, B., Corradi, C., McKibbin, M., Panneman, D., Roosing, S., Boonen, E. G. M., Ali, M., Watson, C. M., Steel, D., Cremers, F. P. M., Inglehearn, C., Hitti-Malin, R. J., Toomes, C.
Magazine: Genes
Begin- en eindpagina: 191-191
Link: https://pubmed.ncbi.nlm.nih.gov/36672932/
Titel: Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients
Auteur: Rabia Basharat, Kim Rodenburg, María Rodríguez-Hidalgo, Afeefa Jarral, Ehsan Ullah, Jordi Corominas, Christian Gilissen, Syeda Tatheer Zehra, Usman Hameed, Muhammad Ansar, Suzanne E. de Bruijn
Magazine: Genes
Begin- en eindpagina: 1573-1573
Link: https://pubmed.ncbi.nlm.nih.gov/37628625/
Auteur: Rabia Basharat, Kim Rodenburg, María Rodríguez-Hidalgo, Afeefa Jarral, Ehsan Ullah, Jordi Corominas, Christian Gilissen, Syeda Tatheer Zehra, Usman Hameed, Muhammad Ansar, Suzanne E. de Bruijn
Magazine: Genes
Begin- en eindpagina: 1573-1573
Link: https://pubmed.ncbi.nlm.nih.gov/37628625/
Titel: ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease
Auteur: Rodríguez-Hidalgo, M., de Bruijn, S. E., Corradi, Z., Rodenburg, K., Lara-López, A., Valverde-Megías, A., Ávila-Fernández, A., Fernandez-Caballero, L., Del Pozo-Valero, M., Corominas, J., Gilissen, C., Irigoyen, C., Cremers, F. P. M., Ayuso, C., Ruiz-Ederra, J., Roosing, S.
Magazine: Frontiers Genetics
Begin- en eindpagina: 1234032-1234032
Link: https://pubmed.ncbi.nlm.nih.gov/37779911/
Auteur: Rodríguez-Hidalgo, M., de Bruijn, S. E., Corradi, Z., Rodenburg, K., Lara-López, A., Valverde-Megías, A., Ávila-Fernández, A., Fernandez-Caballero, L., Del Pozo-Valero, M., Corominas, J., Gilissen, C., Irigoyen, C., Cremers, F. P. M., Ayuso, C., Ruiz-Ederra, J., Roosing, S.
Magazine: Frontiers Genetics
Begin- en eindpagina: 1234032-1234032
Link: https://pubmed.ncbi.nlm.nih.gov/37779911/
Titel: Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases
Auteur: Hitti-Malin, R. J., Dhaenens, C. M., Panneman, D. M., Corradi, Z., Khan, M., den Hollander, A. I., Farrar, G. J., Gilissen, C., Hoischen, A., van de Vorst, M., Bults, F., Boonen, E. G. M., Saunders, P., MD Study Group, Roosing, S., Cremers, F. P. M.
Magazine: Human Mutation
Begin- en eindpagina: 2234-2250
Link: https://pubmed.ncbi.nlm.nih.gov/36259723/
Auteur: Hitti-Malin, R. J., Dhaenens, C. M., Panneman, D. M., Corradi, Z., Khan, M., den Hollander, A. I., Farrar, G. J., Gilissen, C., Hoischen, A., van de Vorst, M., Bults, F., Boonen, E. G. M., Saunders, P., MD Study Group, Roosing, S., Cremers, F. P. M.
Magazine: Human Mutation
Begin- en eindpagina: 2234-2250
Link: https://pubmed.ncbi.nlm.nih.gov/36259723/