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Academic Journal
Smith, C.E.L.; Hany, U.; Best, S.; Poulter, J.A.; Rigby, A.; Watson, C.M.; Inglehearn, C.F.; Laugel-Haushalter, V.; Bloch-Zupan, A.; Taylor, R.L.; Black, G.C.; Wortmann, S.B.; Feichtinger, R.G.; Mayr, J.A.; Al Bahlani, S.; Nikolopoulos, G.; Mighell, A.J.; Mansour, S.; Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C.R.; Brittain, H.; Brown, M.A.; Caulfield, M.J.; Chan, G.C.; Giess, A.; Griffin, J.N.; Hamblin, A.; Henderson, S.; Hubbard, T.J.P.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lakey, A.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; McEntagart, M.; Minneci, F.; Mitchell, J.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; O'Donovan, P.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Pereira, M.B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smith, S.C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A.L.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.; Zarowiecki, M.; McKibbin, M.; Ali, M.; Toomes, C.; Ingram, S.; Manson, F.; Sergouniotis, P.; Arno, G.; Hardcastle, A.J.; Webster, A.; Pontikos, N.; Cheetham, M.; Fiorentino, A.; Downes, S.; Yu, J.; Halford, S.; Broadgate, S.; van Heyningen, V.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 20 June 2024, 61(7):689-698)
Academic Journal
In: Laboratory Investigation . (Laboratory Investigation, August 2023, 103(8))
Academic Journal
Yahya, S.; Watson, C.M.; Carr, I.; McKibbin, M.; Crinnion, L.A.; Taylor, M.; El-Asrag, M.E.; Ali, M.; Toomes, C.; Inglehearn, C.F.; Bonin, H.; Fletcher, T.
In: Molecular Diagnosis and Therapy . (Molecular Diagnosis and Therapy, July 2023, 27(4):525-535)
Academic Journal
McClinton, B.; Crinnion, L.A.; Poulter, J.A.; Smith, C.E.L.; Ali, M.; Watson, C.M.; Inglehearn, C.F.; Toomes, C.; McKibbin, M.; Mukherjee, R.
In: Molecular Genetics and Genomic Medicine . (Molecular Genetics and Genomic Medicine, June 2023, 11(6))
Academic Journal
Panneman, D.M.; Hitti-Malin, R.J.; Holtes, L.K.; de Bruijn, S.E.; Reurink, J.; Boonen, E.G.M.; Khan, M.I.; Tracewska, A.M.; van de Vorst, M.; Gilissen, C.; Hoischen, A.; Cremers, F.P.M.; Roosing, S.; Ali, M.; Inglehearn, C.F.; McKibbin, M.; Poulter, J.A.; Toomes, C.; Andréasson, S.; Kjellström, U.; De Baere, E.; Bauwens, M.; De Bruyne, M.; Coppieters, F.; Leroy, B.P.; Banfi, S.; Karali, M.; Ben-Yosef, T.; Tatour, Y.; Bocquet, B.; Meunier, I.; Cerda, B.D.L.; Farinelli, P.; Guignard, T.; Simonelli, F.; Testa, F.; Koenekoop, R.; de Koning, B.; Nikopoulos, K.; Nishiguchi, K.M.; Ushida, H.; Rivolta, C.; Rodríguez de la Rúa, E.; Saunders, P.; Thiadens, A.A.H.J.; Verhoeven, V.J.M.; Tran, H.V.; Vaclavik, V.
In: Frontiers in Cell and Developmental Biology . (Frontiers in Cell and Developmental Biology, 3 February 2023, 11)
Academic Journal
Mc Clinton, B.; McKibbin, M.; Ali, M.; Watson, C.M.; Inglehearn, C.F.; Toomes, C.; Corradi, Z.; Panneman, D.M.; Roosing, S.; Boonen, E.G.M.; Cremers, F.P.M.; Hitti-Malin, R.J.; Steel, D.H.
In: Genes . (Genes, January 2023, 14(1))
Academic Journal
Yahya, S.; Smith, C.E.L.; Poulter, J.A.; McKibbin, M.; El-Asrag, M.E.; Ali, M.; Toomes, C.; Inglehearn, C.F.; Arno, G.; Hardcastle, A.J.; Webster, A.R.; Ellingford, J.; Black, G.C.; Kämpjärvi, K.; Khan, M.I.; Cremers, F.P.M.; Castle, B.; Steel, D.H.W.; Ingram, S.; Taylor, R.; Manson, F.; Sergouniotis, P.; Pontikos, N.; Cheetham, M.; Fiorentino, A.; Downes, S.; Yu, J.; Halford, S.; Broadgate, S.; van Heyningen, V.; Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C.R.; Brittain, H.; Caulfield, M.J.; Chan, G.C.; Elgar, G.; Fowler, T.; Giess, A.; Hamblin, A.; Henderson, S.; Hubbard, T.J.P.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, J.F.; Maleady-Crowe, F.; McEntagart, M.; Minneci, F.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; O'Donovan, P.; Odhams, C.A.; Patch, C.; Pereira, M.B.; Perez-Gil, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smith, S.C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A.L.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.
In: Ophthalmology . (Ophthalmology, January 2023, 130(1):68-76)
Academic Journal
Taylor, R.L.; Williams, S.; Ashworth, J.; Hall, G.; Douzgou, S.; Black, G.C.; Gale, T.; Soriano, C.S.; Dzulova, D.; Inglehearn, C.F.; Toomes, C.; Lloyd, I.C.
In: Orphanet Journal of Rare Diseases . (Orphanet Journal of Rare Diseases, December 2022, 17(1))
Academic Journal
Best, S.; Poulter, J.A.; Szymanska, K.; Toomes, C.; Inglehearn, C.; Johnson, C.A.; Lord, J.; Wheway, G.; Roche, M.; Watson, C.M.; Bevers, R.P.J.; Stuckey, A.; Brittain, H.; Ellingford, J.M.; Carmichael, J.; Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C.R.; Caulfield, M.J.; Chan, G.C.; Elgar, G.; Fowler, T.; Giess, A.; Hamblin, A.; Henderson, S.; Hubbard, T.J.P.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, J.F.; Maleady-Crowe, F.; McEntagart, M.; Minneci, F.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; O’Donovan, P.; Odhams, C.A.; Patch, C.; Pereira, M.B.; Perez-Gil, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smith, S.C.; Sosinsky, A.; Tanguy, M.; Taylor Tavares, A.L.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.
In: Journal of Medical Genetics . (Journal of Medical Genetics, August 2022, 59(8):737-747)
Academic Journal
Best, S.; Watson, C.M.; Toomes, C.; Inglehearn, C.; Johnson, C.A.; Jewell, R.; Yu, J.; Lord, J.; Wheway, G.; Roche, M.; Bevers, R.P.J.; Stuckey, A.; Madhusudhan, S.; Sisodiya, S.M.; Lin, S.; Turner, S.; Robinson, H.; Leslie, J.S.; Baple, E.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 28 June 2022, 59(12):1151-1164)
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[AR] Toomes, C.
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