Etiology
Sakti DH,
Cornish EE,
Nash BM,
Jamieson RV,
Grigg JR
Ophthalmic Genet
2023 Oct;44(5):437-455.
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Meng D,
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Mol Ther
2020 Oct 7;28(10):2139-2149.
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Diakatou M,
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Int J Mol Sci
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Wheway G,
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Nguyen TT,
Racher H,
Phelps IG,
Toedt G,
Kennedy J,
Wunderlich KA,
Sorusch N,
Abdelhamed ZA,
Natarajan S,
Herridge W,
van Reeuwijk J,
Horn N,
Boldt K,
Parry DA,
Letteboer SJF,
Roosing S,
Adams M,
Bell SM,
Bond J,
Higgins J,
Morrison EE,
Tomlinson DC,
Slaats GG,
van Dam TJP,
Huang L,
Kessler K,
Giessl A,
Logan CV,
Boyle EA,
Shendure J,
Anazi S,
Aldahmesh M,
Al Hazzaa S,
Hegele RA,
Ober C,
Frosk P,
Mhanni AA,
Chodirker BN,
Chudley AE,
Lamont R,
Bernier FP,
Beaulieu CL,
Gordon P,
Pon RT,
Donahue C,
Barkovich AJ,
Wolf L,
Toomes C,
Thiel CT,
Boycott KM,
McKibbin M,
Inglehearn CF;
UK10K Consortium;
University of Washington Center for Mendelian Genomics,
Stewart F,
Omran H,
Huynen MA,
Sergouniotis PI,
Alkuraya FS,
Parboosingh JS,
Innes AM,
Willoughby CE,
Giles RH,
Webster AR,
Ueffing M,
Blacque O,
Gleeson JG,
Wolfrum U,
Beales PL,
Gibson T,
Doherty D,
Mitchison HM,
Roepman R,
Johnson CA
Nat Cell Biol
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Shastry BS
Am J Med Genet
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Diagnosis
Kong L,
Chu G,
Ma W,
Liang J,
Liu D,
Liu Q,
Wei X,
Jia S,
Gu H,
He Y,
Luo W,
Cao S,
Zhou X,
He R,
Yuan Z
J Med Genet
2023 Oct;60(10):939-950.
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Meng D,
Ragi SD,
Tsang SH
Mol Ther
2020 Oct 7;28(10):2139-2149.
Epub 2020 Aug 25
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Hafler BP,
Comander J,
Weigel DiFranco C,
Place EM,
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Semin Ophthalmol
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Liu Y,
Chen X,
Xu Q,
Gao X,
Tam PO,
Zhao K,
Zhang X,
Chen LJ,
Jia W,
Zhao Q,
Vollrath D,
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Zhao C
Sci Rep
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Daiger SP,
Bowne SJ,
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Cold Spring Harb Perspect Med
2014 Oct 10;5(10)
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Therapy
Justin GA,
Girach A,
Maldonado RS
Curr Opin Ophthalmol
2023 May 1;34(3):226-231.
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Otte B,
Andrews C,
Lacy G,
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Ophthalmic Genet
2021 Apr;42(2):170-177.
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Humphries MM,
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Humphries P
Genes (Basel)
2020 Nov 27;11(12)
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Gragg M,
Park PS
Biochim Biophys Acta Mol Basis Dis
2018 Sep;1864(9 Pt B):2938-2948.
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Tam LC,
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Humphries MM,
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Hum Mol Genet
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Prognosis
Ruff A,
Tezel A,
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PLoS One
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Wheway G,
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Jalali S,
Tabatabaie R,
Rezai S,
Ahmadieh H,
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Int Ophthalmol
2019 Nov;39(11):2523-2531.
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Zhong Z,
Yan M,
Sun W,
Wu Z,
Han L,
Zhou Z,
Zheng F,
Chen J
Sci Rep
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Hafler BP,
Comander J,
Weigel DiFranco C,
Place EM,
Pierce EA
Semin Ophthalmol
2016;31(1-2):49-52.
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PMID: 26959129Free PMC Article
Clinical prediction guides
Kiang AS,
Kenna PF,
Humphries MM,
Ozaki E,
Koenekoop RK,
Campbell M,
Farrar GJ,
Humphries P
Genes (Basel)
2020 Nov 27;11(12)
doi: 10.3390/genes11121420.
PMID: 33261050Free PMC Article
Wheway G,
Douglas A,
Baralle D,
Guillot E
Exp Eye Res
2020 Mar;192:107950.
Epub 2020 Jan 31
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PMID: 32014492Free PMC Article
Hafler BP,
Comander J,
Weigel DiFranco C,
Place EM,
Pierce EA
Semin Ophthalmol
2016;31(1-2):49-52.
doi: 10.3109/08820538.2015.1114856.
PMID: 26959129Free PMC Article
Wheway G,
Schmidts M,
Mans DA,
Szymanska K,
Nguyen TT,
Racher H,
Phelps IG,
Toedt G,
Kennedy J,
Wunderlich KA,
Sorusch N,
Abdelhamed ZA,
Natarajan S,
Herridge W,
van Reeuwijk J,
Horn N,
Boldt K,
Parry DA,
Letteboer SJF,
Roosing S,
Adams M,
Bell SM,
Bond J,
Higgins J,
Morrison EE,
Tomlinson DC,
Slaats GG,
van Dam TJP,
Huang L,
Kessler K,
Giessl A,
Logan CV,
Boyle EA,
Shendure J,
Anazi S,
Aldahmesh M,
Al Hazzaa S,
Hegele RA,
Ober C,
Frosk P,
Mhanni AA,
Chodirker BN,
Chudley AE,
Lamont R,
Bernier FP,
Beaulieu CL,
Gordon P,
Pon RT,
Donahue C,
Barkovich AJ,
Wolf L,
Toomes C,
Thiel CT,
Boycott KM,
McKibbin M,
Inglehearn CF;
UK10K Consortium;
University of Washington Center for Mendelian Genomics,
Stewart F,
Omran H,
Huynen MA,
Sergouniotis PI,
Alkuraya FS,
Parboosingh JS,
Innes AM,
Willoughby CE,
Giles RH,
Webster AR,
Ueffing M,
Blacque O,
Gleeson JG,
Wolfrum U,
Beales PL,
Gibson T,
Doherty D,
Mitchison HM,
Roepman R,
Johnson CA
Nat Cell Biol
2015 Aug;17(8):1074-1087.
Epub 2015 Jul 13
doi: 10.1038/ncb3201.
PMID: 26167768Free PMC Article
Shastry BS
Am J Med Genet
1994 Oct 1;52(4):467-74.
doi: 10.1002/ajmg.1320520413.
PMID: 7747760