Etiology
Monavarfeshani A,
Yan W,
Pappas C,
Odenigbo KA,
He Z,
Segrè AV,
van Zyl T,
Hageman GS,
Sanes JR
Proc Natl Acad Sci U S A
2023 Aug 22;120(34):e2306153120.
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Haqq AM,
Chung WK,
Dollfus H,
Haws RM,
Martos-Moreno GÁ,
Poitou C,
Yanovski JA,
Mittleman RS,
Yuan G,
Forsythe E,
Clément K,
Argente J
Lancet Diabetes Endocrinol
2022 Dec;10(12):859-868.
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Fahim A
Curr Opin Pediatr
2018 Dec;30(6):725-733.
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Verbakel SK,
van Huet RAC,
Boon CJF,
den Hollander AI,
Collin RWJ,
Klaver CCW,
Hoyng CB,
Roepman R,
Klevering BJ
Prog Retin Eye Res
2018 Sep;66:157-186.
Epub 2018 Mar 27
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PMID: 29597005
Hamel CP
Orphanet J Rare Dis
2007 Feb 1;2:7.
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PMID: 17270046Free PMC Article
Diagnosis
Haqq AM,
Chung WK,
Dollfus H,
Haws RM,
Martos-Moreno GÁ,
Poitou C,
Yanovski JA,
Mittleman RS,
Yuan G,
Forsythe E,
Clément K,
Argente J
Lancet Diabetes Endocrinol
2022 Dec;10(12):859-868.
Epub 2022 Nov 7
doi: 10.1016/S2213-8587(22)00277-7.
PMID: 36356613Free PMC Article
Zampaglione E,
Kinde B,
Place EM,
Navarro-Gomez D,
Maher M,
Jamshidi F,
Nassiri S,
Mazzone JA,
Finn C,
Schlegel D,
Comander J,
Pierce EA,
Bujakowska KM
Genet Med
2020 Jun;22(6):1079-1087.
Epub 2020 Feb 10
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PMID: 32037395Free PMC Article
Fahim A
Curr Opin Pediatr
2018 Dec;30(6):725-733.
doi: 10.1097/MOP.0000000000000690.
PMID: 30234647
Verbakel SK,
van Huet RAC,
Boon CJF,
den Hollander AI,
Collin RWJ,
Klaver CCW,
Hoyng CB,
Roepman R,
Klevering BJ
Prog Retin Eye Res
2018 Sep;66:157-186.
Epub 2018 Mar 27
doi: 10.1016/j.preteyeres.2018.03.005.
PMID: 29597005
Daiger SP,
Sullivan LS,
Bowne SJ
Clin Genet
2013 Aug;84(2):132-41.
Epub 2013 Jun 19
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Therapy
Chen X,
Xu N,
Li J,
Zhao M,
Huang L
Stem Cell Res Ther
2023 Oct 5;14(1):286.
doi: 10.1186/s13287-023-03526-x.
PMID: 37798796Free PMC Article
Comander J,
Weigel DiFranco C,
Sanderson K,
Place E,
Maher M,
Zampaglione E,
Zhao Y,
Huckfeldt RM,
Bujakowska KM,
Pierce E
JCI Insight
2023 Aug 8;8(15)
doi: 10.1172/jci.insight.167546.
PMID: 37261916Free PMC Article
von Krusenstiern L,
Liu J,
Liao E,
Gow JA,
Chen G,
Ong T,
Lotery AJ,
Jalil A,
Lam BL,
MacLaren RE;
XIRIUS Part 1 Study GroupXOLARIS Study Group
JAMA Ophthalmol
2023 Mar 1;141(3):275-283.
doi: 10.1001/jamaophthalmol.2022.6254.
PMID: 36757689Free PMC Article
Haqq AM,
Chung WK,
Dollfus H,
Haws RM,
Martos-Moreno GÁ,
Poitou C,
Yanovski JA,
Mittleman RS,
Yuan G,
Forsythe E,
Clément K,
Argente J
Lancet Diabetes Endocrinol
2022 Dec;10(12):859-868.
Epub 2022 Nov 7
doi: 10.1016/S2213-8587(22)00277-7.
PMID: 36356613Free PMC Article
Mendell JR,
Al-Zaidy SA,
Rodino-Klapac LR,
Goodspeed K,
Gray SJ,
Kay CN,
Boye SL,
Boye SE,
George LA,
Salabarria S,
Corti M,
Byrne BJ,
Tremblay JP
Mol Ther
2021 Feb 3;29(2):464-488.
Epub 2020 Dec 10
doi: 10.1016/j.ymthe.2020.12.007.
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Prognosis
Comander J,
Weigel DiFranco C,
Sanderson K,
Place E,
Maher M,
Zampaglione E,
Zhao Y,
Huckfeldt RM,
Bujakowska KM,
Pierce E
JCI Insight
2023 Aug 8;8(15)
doi: 10.1172/jci.insight.167546.
PMID: 37261916Free PMC Article
Ruff A,
Tezel A,
Tezel TH
PLoS One
2022;17(10):e0276629.
Epub 2022 Oct 21
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PMID: 36269735Free PMC Article
Zampaglione E,
Kinde B,
Place EM,
Navarro-Gomez D,
Maher M,
Jamshidi F,
Nassiri S,
Mazzone JA,
Finn C,
Schlegel D,
Comander J,
Pierce EA,
Bujakowska KM
Genet Med
2020 Jun;22(6):1079-1087.
Epub 2020 Feb 10
doi: 10.1038/s41436-020-0759-8.
PMID: 32037395Free 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
Hamel CP
Orphanet J Rare Dis
2007 Feb 1;2:7.
doi: 10.1186/1750-1172-2-7.
PMID: 17270046Free PMC Article
Clinical prediction guides
Comander J,
Weigel DiFranco C,
Sanderson K,
Place E,
Maher M,
Zampaglione E,
Zhao Y,
Huckfeldt RM,
Bujakowska KM,
Pierce E
JCI Insight
2023 Aug 8;8(15)
doi: 10.1172/jci.insight.167546.
PMID: 37261916Free PMC Article
Georgiou M,
Grewal PS,
Narayan A,
Alser M,
Ali N,
Fujinami K,
Webster AR,
Michaelides M
Am J Ophthalmol
2021 Jan;221:299-310.
Epub 2020 Aug 12
doi: 10.1016/j.ajo.2020.08.004.
PMID: 32795431Free PMC Article
Zampaglione E,
Kinde B,
Place EM,
Navarro-Gomez D,
Maher M,
Jamshidi F,
Nassiri S,
Mazzone JA,
Finn C,
Schlegel D,
Comander J,
Pierce EA,
Bujakowska KM
Genet Med
2020 Jun;22(6):1079-1087.
Epub 2020 Feb 10
doi: 10.1038/s41436-020-0759-8.
PMID: 32037395Free PMC Article
Kimchi A,
Khateb S,
Wen R,
Guan Z,
Obolensky A,
Beryozkin A,
Kurtzman S,
Blumenfeld A,
Pras E,
Jacobson SG,
Ben-Yosef T,
Newman H,
Sharon D,
Banin E
Ophthalmology
2018 May;125(5):725-734.
Epub 2017 Dec 22
doi: 10.1016/j.ophtha.2017.11.014.
PMID: 29276052
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