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Alswaid A,
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Lingappa L,
Lourenço C,
Martorell L,
Garcia-Cazorla À,
Ozyürek H,
Haliloğlu G,
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Topçu M;
University of Washington Center for Mendelian Genomics,
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Ophthalmology
2013 Apr;120(4):844-51.
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Diagnosis
Gana S,
Serpieri V,
Valente EM
Am J Med Genet C Semin Med Genet
2022 Mar;190(1):72-88.
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Thomas MG,
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2022 May;106(5):593-599.
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Sen M,
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Bachmann-Gagescu R,
Dempsey JC,
Phelps IG,
O'Roak BJ,
Knutzen DM,
Rue TC,
Ishak GE,
Isabella CR,
Gorden N,
Adkins J,
Boyle EA,
de Lacy N,
O'Day D,
Alswaid A,
Ramadevi A R,
Lingappa L,
Lourenço C,
Martorell L,
Garcia-Cazorla À,
Ozyürek H,
Haliloğlu G,
Tuysuz B,
Topçu M;
University of Washington Center for Mendelian Genomics,
Chance P,
Parisi MA,
Glass IA,
Shendure J,
Doherty D
J Med Genet
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Ferris FL 3rd,
Wilkinson CP,
Bird A,
Chakravarthy U,
Chew E,
Csaky K,
Sadda SR;
Beckman Initiative for Macular Research Classification Committee
Ophthalmology
2013 Apr;120(4):844-51.
Epub 2013 Jan 16
doi: 10.1016/j.ophtha.2012.10.036.
PMID: 23332590
Therapy
Chauhan MZ,
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Cells
2022 Jun 17;11(12)
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Mol Psychiatry
2022 Sep;27(9):3592-3616.
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Kass MA,
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Wilson MR,
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Arch Ophthalmol
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Prognosis
Gana S,
Serpieri V,
Valente EM
Am J Med Genet C Semin Med Genet
2022 Mar;190(1):72-88.
Epub 2022 Mar 3
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Wójciak P,
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Psychiatr Pol
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Shi H,
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Regis GC,
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Kramerov AA,
Ljubimov AV,
Dumitrascu OM,
Rodriguez AR,
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Hinton DR,
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Ferris FL 3rd,
Wilkinson CP,
Bird A,
Chakravarthy U,
Chew E,
Csaky K,
Sadda SR;
Beckman Initiative for Macular Research Classification Committee
Ophthalmology
2013 Apr;120(4):844-51.
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Clinical prediction guides
Koronyo Y,
Rentsendorj A,
Mirzaei N,
Regis GC,
Sheyn J,
Shi H,
Barron E,
Cook-Wiens G,
Rodriguez AR,
Medeiros R,
Paulo JA,
Gupta VB,
Kramerov AA,
Ljubimov AV,
Van Eyk JE,
Graham SL,
Gupta VK,
Ringman JM,
Hinton DR,
Miller CA,
Black KL,
Cattaneo A,
Meli G,
Mirzaei M,
Fuchs DT,
Koronyo-Hamaoui M
Acta Neuropathol
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Komatsu H,
Onoguchi G,
Jerotic S,
Kanahara N,
Kakuto Y,
Ono T,
Funakoshi S,
Yabana T,
Nakazawa T,
Tomita H
Mol Psychiatry
2022 Sep;27(9):3592-3616.
Epub 2022 May 2
doi: 10.1038/s41380-022-01591-x.
PMID: 35501407
Shi H,
Koronyo Y,
Rentsendorj A,
Regis GC,
Sheyn J,
Fuchs DT,
Kramerov AA,
Ljubimov AV,
Dumitrascu OM,
Rodriguez AR,
Barron E,
Hinton DR,
Black KL,
Miller CA,
Mirzaei N,
Koronyo-Hamaoui M
Acta Neuropathol
2020 May;139(5):813-836.
Epub 2020 Feb 10
doi: 10.1007/s00401-020-02134-w.
PMID: 32043162Free PMC Article
Bachmann-Gagescu R,
Dempsey JC,
Phelps IG,
O'Roak BJ,
Knutzen DM,
Rue TC,
Ishak GE,
Isabella CR,
Gorden N,
Adkins J,
Boyle EA,
de Lacy N,
O'Day D,
Alswaid A,
Ramadevi A R,
Lingappa L,
Lourenço C,
Martorell L,
Garcia-Cazorla À,
Ozyürek H,
Haliloğlu G,
Tuysuz B,
Topçu M;
University of Washington Center for Mendelian Genomics,
Chance P,
Parisi MA,
Glass IA,
Shendure J,
Doherty D
J Med Genet
2015 Aug;52(8):514-22.
Epub 2015 Jun 19
doi: 10.1136/jmedgenet-2015-103087.
PMID: 26092869Free PMC Article
Ferris FL 3rd,
Wilkinson CP,
Bird A,
Chakravarthy U,
Chew E,
Csaky K,
Sadda SR;
Beckman Initiative for Macular Research Classification Committee
Ophthalmology
2013 Apr;120(4):844-51.
Epub 2013 Jan 16
doi: 10.1016/j.ophtha.2012.10.036.
PMID: 23332590