Etiology
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Ophthalmic Genet
2017 Dec;38(6):537-543.
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Yang Y,
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Xia F,
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Person R,
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Ward P,
Braxton A,
Wang M,
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Veeraraghavan N,
Hawes A,
Chiang T,
Leduc M,
Beuten J,
Zhang J,
He W,
Scull J,
Willis A,
Landsverk M,
Craigen WJ,
Bekheirnia MR,
Stray-Pedersen A,
Liu P,
Wen S,
Alcaraz W,
Cui H,
Walkiewicz M,
Reid J,
Bainbridge M,
Patel A,
Boerwinkle E,
Beaudet AL,
Lupski JR,
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Diagnosis
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Maugeri A,
van Tintelen JP,
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Mol Genet Genomic Med
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Yang Y,
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Xia F,
Niu Z,
Person R,
Ding Y,
Ward P,
Braxton A,
Wang M,
Buhay C,
Veeraraghavan N,
Hawes A,
Chiang T,
Leduc M,
Beuten J,
Zhang J,
He W,
Scull J,
Willis A,
Landsverk M,
Craigen WJ,
Bekheirnia MR,
Stray-Pedersen A,
Liu P,
Wen S,
Alcaraz W,
Cui H,
Walkiewicz M,
Reid J,
Bainbridge M,
Patel A,
Boerwinkle E,
Beaudet AL,
Lupski JR,
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JAMA
2014 Nov 12;312(18):1870-9.
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van Bysterveldt KA,
Al Taie R,
Ikink W,
Oliver VF,
Vincent AL
Ophthalmic Genet
2017 Dec;38(6):537-543.
Epub 2017 Apr 10
doi: 10.1080/13816810.2017.1309552.
PMID: 28394649
Kumar A,
Duvvari MR,
Prabhakaran VC,
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Hum Genet
2010 Oct;128(4):365-71.
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Clinical prediction guides
van Bysterveldt KA,
Al Taie R,
Ikink W,
Oliver VF,
Vincent AL
Ophthalmic Genet
2017 Dec;38(6):537-543.
Epub 2017 Apr 10
doi: 10.1080/13816810.2017.1309552.
PMID: 28394649
Yang Y,
Muzny DM,
Xia F,
Niu Z,
Person R,
Ding Y,
Ward P,
Braxton A,
Wang M,
Buhay C,
Veeraraghavan N,
Hawes A,
Chiang T,
Leduc M,
Beuten J,
Zhang J,
He W,
Scull J,
Willis A,
Landsverk M,
Craigen WJ,
Bekheirnia MR,
Stray-Pedersen A,
Liu P,
Wen S,
Alcaraz W,
Cui H,
Walkiewicz M,
Reid J,
Bainbridge M,
Patel A,
Boerwinkle E,
Beaudet AL,
Lupski JR,
Plon SE,
Gibbs RA,
Eng CM
JAMA
2014 Nov 12;312(18):1870-9.
doi: 10.1001/jama.2014.14601.
PMID: 25326635Free PMC Article
Le Goff C,
Cormier-Daire V
Am J Med Genet C Semin Med Genet
2012 Aug 15;160C(3):145-53.
Epub 2012 Jul 12
doi: 10.1002/ajmg.c.31337.
PMID: 22791552
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Draganov D,
Morar B,
Saat R,
Juan M,
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Soodyall H,
Chakrabarti S,
Padh H,
López-Nevot MA,
Chernodrinska V,
Anguelov B,
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Eur J Hum Genet
2011 Mar;19(3):326-33.
Epub 2010 Nov 17
doi: 10.1038/ejhg.2010.181.
PMID: 21081970Free PMC Article
Kumar A,
Duvvari MR,
Prabhakaran VC,
Shetty JS,
Murthy GJ,
Blanton SH
Hum Genet
2010 Oct;128(4):365-71.
Epub 2010 Jul 9
doi: 10.1007/s00439-010-0858-8.
PMID: 20617341