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Research to Prevent Blindness

Research Database

Columbia University Research, funded by RPB in 2013 & 2014 matching Physician-Scientist Award to Tsang, Stephen / MD, PhD

16 Citations, Sorted by Month and Year

November, 2014
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.

Xie YA, Lee W, Cai C, Gambin T, Noupuu K, Sujirakul T, Ayuso C, Jhangiani S, Muzny D, Boerwinkle E, Gibbs R, Greenstein VC, Lupski JR, Tsang SH, Allikmets R

Hum Mol Genet. 2014 Nov 1;23(21):5774-80

Columbia University - Physician-Scientist Award - Tsang, Stephen / MD, PhD Departmental Grant

Keyword: Retinitis Pigmentosa

October, 2014
Genetic and clinical analysis of ABCA4-associated disease in african american patients.

Zernant J, Collison FT, Lee W, Fishman GA, Noupuu K, Yuan B, Cai C, Lupski JR, Yannuzzi LA, Tsang SH, Allikmets R

Hum Mutat. 2014 Oct;35(10):1187-94

Columbia University - Physician-Scientist Award - Tsang, Stephen / MD, PhD Departmental Grant

Keyword: Retina/Retinal Diseases

Structural and genetic assessment of the ABCA4-associated optical gap phenotype.

Noupuu K, Lee W, Zernant J, Tsang SH, Allikmets R

Invest Ophthalmol Vis Sci. 2014 Oct 9;55(11):7217-26

Columbia University - Physician-Scientist Award - Tsang, Stephen / MD, PhD Departmental Grant

Keyword: Retina/Retinal Diseases

September, 2014
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LE, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ

Cell. 2014 Sep 25;159(1):200-14

Columbia University - Physician-Scientist Award - Tsang, Stephen / MD, PhD Departmental Grant

Keyword: Gene Research/Therapy

Early structural anomalies observed by high-resolution imaging in two related cases of autosomal-dominant retinitis pigmentosa.

Park SP, Lee W, Bae EJ, Greenstein V, Sin BH, Chang S, Tsang SH

Ophthalmic Surg Lasers Imaging Retina. 2014 Sep-Oct;45(5):469-73

Columbia University - Physician-Scientist Award - Tsang, Stephen / MD, PhD Departmental Grant

Keyword: Retinitis Pigmentosa

Gene therapy in patient-specific stem cell lines and a preclinical model of retinitis pigmentosa with membrane frizzled-related protein defects.

Li Y, Wu WH, Hsu CW, Nguyen HV, Tsai YT, Chan L, Nagasaki T, Maumenee IH, Yannuzzi LA, Hoang QV, Hua H, Egli D, Tsang SH

Mol Ther. 2014 Sep;22(9):1688-97

Columbia University - Career Development Award - Hoang, Quan V / MD, PhD Physician-Scientist Award - Tsang, Stephen / MD, PhD Departmental Grant

Keyword: Retinitis Pigmentosa

Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.

Tsang SH, Burke T, Oll M, Yzer S, Lee W, Xie YA, Allikmets R

Ophthalmology. 2014 Sep;121(9):1773-82

Columbia University - Physician-Scientist Award - Tsang, Stephen / MD, PhD Departmental Grant

Keyword: Gene Research/Therapy

August, 2014
The external limiting membrane in early-onset stargardt disease.

Lee W, Noupuu K, Oll M, Duncker T, Burke T, Zernant J, Bearelly S, Tsang SH, Sparrow JR, Allikmets R

Invest Ophthalmol Vis Sci. 2014 Aug 19;55(10):6139-49

Columbia University - Physician-Scientist Award - Tsang, Stephen / MD, PhD Departmental Grant

Keyword: Retina/Retinal Diseases

July, 2014
Choroidal and retinal thickening in severe preeclampsia.

Garg A, Wapner RJ, Ananth CV, Dale E, Tsang SH, Lee W, Allikmets R, Bearelly S

Invest Ophthalmol Vis Sci. 2014 Jul 29;55(9):5723-9

Columbia University - Physician-Scientist Award - Tsang, Stephen / MD, PhD Departmental Grant

Keyword: Retina/Retinal Diseases

Validation of genome-wide association study (GWAS)-identified disease risk alleles with patient-specific stem cell lines.

Yang J, Li Y, Chan L, Tsai YT, Wu WH, Nguyen HV, Hsu CW, Li X, Brown LM, Egli D, Sparrow JR, Tsang SH

Hum Mol Genet. 2014 Jul 1;23(13):3445-55

Columbia University - Physician-Scientist Award - Tsang, Stephen / MD, PhD Departmental Grant

Keyword: AMD

May, 2014
Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.

Wert KJ, Skeie JM, Bassuk AG, Olivier AK, Tsang SH, Mahajan VB

Hum Mol Genet. 2014 May 15;23(10):2665-77

Columbia University - Physician-Scientist Award - Tsang, Stephen / MD, PhD Departmental Grant

Keyword: Retina/Retinal Diseases

Quantitative fundus autofluorescence in recessive stargardt disease.

Burke TR, Duncker T, Woods RL, Greenberg JP, Zernant J, Tsang SH, Smith RT, Allikmets R, Sparrow JR, Delori FC

Invest Ophthalmol Vis Sci. 2014 May 1;55(5):2841-52

Columbia University - Physician-Scientist Award - Tsang, Stephen / MD, PhD Departmental Grant

Keyword: Retina/Retinal Diseases

April, 2014
Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.

Greenberg JP, Sherman J, Zweifel SA, Chen RW, Duncker T, Kohl S, Baumann B, Wissinger B, Yannuzzi LA, Tsang SH

JAMA Ophthalmol. 2014 Apr 1;132(4):437-45

Columbia University - Physician-Scientist Award - Tsang, Stephen / MD, PhD Departmental Grant

Keyword: Retina/Retinal Diseases

March, 2014
Generation of induced pluripotent stem cells from conjunctiva.

Yang J, Li Y, Erol D, Wu WH, Tsai YT, Li XR, Davis RJ, Tsang SH

Graefes Arch Clin Exp Ophthalmol. 2014 Mar;252(3):423-31

Columbia University - Physician-Scientist Award - Tsang, Stephen / MD, PhD Departmental Grant

Keyword: Stem Cell Research/Therapy

Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy.

Duncker T, Greenberg JP, Ramachandran R, Hood DC, Smith RT, Hirose T, Woods RL, Tsang SH, Delori FC, Sparrow JR

Invest Ophthalmol Vis Sci. 2014 Mar 13;55(3):1471-82

Columbia University - Physician-Scientist Award - Tsang, Stephen / MD, PhD Departmental Grant

Keyword: Retina/Retinal Diseases

February, 2014
Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene.

Nong E, Lee W, Merriam JE, Allikmets R, Tsang SH

Doc Ophthalmol. 2014 Feb;128(1):59-67

Columbia University - Physician-Scientist Award - Tsang, Stephen / MD, PhD Departmental Grant

Keyword: Gene Research/Therapy

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