Yang Li

Renmin University of China, Peping, Beijing, China

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Publications (75)154.6 Total impact

  • [Show abstract] [Hide abstract]
    ABSTRACT: To testify whether absolute neutrophil count (ANC) response to preimmunosuppressive-therapy (pre-IST) granulocyte-stimulating factor (G-CSF) treatment could predict early response to IST in severe aplastic anemia (SAA). Clinical data and hematologic response of 125 SAA patients treated with antithymocyte globulin (r-ATG) combined with cyclosporine were retrospectively analyzed. Correlation of ANC response to pre-IST G-CSF treatment and early response to IST were statistically analyzed, and receiver operating characteristic (ROC) curve was used to estimate the value of increased ANC (∆ANC) in predicting early IST response. The hematologic response (HR) rate to IST in ANC reponded patients was significantly higher than non-responded group (3-month HR 49.0% vs 28.9%, P=0.023; 6-month HR 61.2% vs 40.8%, P=0.026). With ∆ANC≥0.5×10⁹/L as cutoff level, the best point to predict early IST response was 10 days after G-CSF (d 10). Response of ANC to pre-IST G-CSF treatment at d 10 was among the independent factors of predicting 3-month (P=0.004), but not for 6-month response to IST. The overall 5-year survival rate was 92.8% and 69.5% in ANC responded and non-responed groups, respectively (P=0.025). Responding to pre-IST G-CSF treatment reflected the residual bone marrow hematopoiesis, and could act as a convenient and practical predictor to early IST response as well as long-term survival in SAA.
    11/2014; 35(11):974-9.
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    ABSTRACT: Purpose: Leber's hereditary optic atrophy (LHON) and autosomal dominant optic atrophy (DOA) are the two most common forms. The objective of this study was to define the fractional prevalence of LHON and DOA in a cohort of Chinese patients with suspected hereditary optic neuropathy. Participants: 520 unrelated patients with bilateral optic atrophy were recruited for genetic analysis: 174 patients had a positive family history of visual failure and 346 were sporadic cases. Methods: Fourteen primary LHON-causing mtDNA mutations were screened by PCR-based sequencing methods for all patients except the individuals with a paternal family history. All coding exons and exon-intron boundaries of the OPA1 and OPA3 gene were screened for mutations by PCR-based DNA sequencing for all patients with paternal family history and for the LHON-negative patients. A large genomic DNA arrangement of the OPA1 gene was further detected by multiplex ligation probe amplification (MLPA) assay for the patients with paternal family history, but results were negative for the OPA1 and OPA3 mutation screenings. Results: We found molecular defect in 323 (62%) of the 520 probands screened. Among these, 271 patients (83.9%) had an mtDNA mutation, 50 patients (15.5%) carried an OPA1 mutation, and 2 patients (0.6%) had an OPA3 mutation. Co-existence m.3460 G>A and m.11778G>A was found in one patient. Forty intragenic mutations and six large genomic DNA arrangements of the OPA1 gene were identified, 23 of which were novel. Conclusions: LHON-mtDNA mutations are the most common genetic defects, followed by the OPA1 mutations, in this Chinese cohort.
    Investigative Ophthalmology &amp Visual Science 09/2014; · 3.44 Impact Factor
  • Ophthalmology 08/2014; · 5.56 Impact Factor
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    ABSTRACT: OBJECTIVE:To identify the characteristics of chronic natural killer cell lymphocytosis (CNKL).
    07/2014; 35(7):609-613.
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    ABSTRACT: The tumor burden (TB) process is postulated to be the primary mechanism through which most anticancer treatments provide benefit. In phase II oncology trials, the biologic effects of a therapeutic agent are often analyzed using conventional endpoints for best response, such as objective response rate and progression-free survival, both of which causes loss of information. On the other hand, graphical methods including spider plot and waterfall plot lack any statistical inference when there is more than one treatment arm. Therefore, longitudinal analysis of TB data is well recognized as a better approach for treatment evaluation. However, longitudinal TB process suffers from informative missingness because of progression or death. We propose to analyze the treatment effect on tumor growth kinetics using a joint modeling framework accounting for the informative missing mechanism. Our approach is illustrated by multisetting simulation studies and an application to a nonsmall-cell lung cancer data set. The proposed analyses can be performed in early-phase clinical trials to better characterize treatment effect and thereby inform decision-making. Copyright © 2014 John Wiley & Sons, Ltd.
    Pharmaceutical Statistics 07/2014; · 0.99 Impact Factor
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    ABSTRACT: To report the clinical data of a case of iron-refractory iron deficiency anemia (IRIDA), so as to improve the understanding of IRIDA.
    06/2014; 35(6):486-90.
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    ABSTRACT: In this article, we introduce the L1 regularized support vector machine (L1-SVM) as an effective feature selection technique into the modeling of financial early warning system (EWS), for the purpose of establishing compact financial EWSs for Chinese-listed companies. By introducing LASSO penalty into the SVM framework, the L1-SVM is a capable methodology to select causative features in classification problem. We evaluate the feature selection performance of L1-SVM under different circumstances through numerical simulations and find it suitable for selecting features for financial EWS. In the real study, we establish four financial EWSs with features selected by L1-SVM and compare them with those trained with full features. The empirical result illustrates that our EWSs, with only minority of features, outperform significantly than full ones in the respect of generalization performance, which indicates the feasibility of L1-SVM in real applications. Copyright © 2014 John Wiley & Sons, Ltd.
    Quality and Reliability Engineering 06/2014; · 0.99 Impact Factor
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    ABSTRACT: Because the blood circulation system of retina and brain are closely related to each other, we examined whether stroke is associated with localized retinal nerve fiber layer defects (RNFLDs). Patients with acute ischemic stroke as part of a hospital-based study group were compared with the participants of the population-based group Beijing Eye Study. The retina was imaged by spectral-domain optical coherence tomography for the detection of localized RNFLDs. The study included 154 patients with acute ischemic stroke and 2890 subjects from the Beijing Eye Study for whom optical coherence tomographic images of the retinal nerve fiber layer and data on a previous cerebral stroke were available. In logistic regression analysis, acute stroke was significantly associated with localized RNFLDs (P<0.001; odds ratio, 6.23; 95% confidence interval, 4.17-9.30) after adjusting for age, male sex, arterial hypertension, diabetes mellitus, and higher concentration of the C-reactive protein. In a similar manner, previous stroke was associated with localized RNFLDs (P=0.04; odds ratio, 1.48; 95% confidence interval, 1.02-2.16) in multivariate analysis. In a reverse manner, presence of localized RNFLDs was associated with cerebral stroke (P<0.001; odds ratio, 3.54; 95% confidence interval, 2.68-4.67) after adjusting for age, sex, and prevalence of diabetes mellitus. Localized RNFLDs showed a strong association with previous or acute cerebrovascular stroke and vice versa after adjustment for other systemic and ocular factors. Localized RNFLDs that can be assessed by noninvasive optical coherence tomographic imaging may be added to the panoply of retinal morphological features of stroke.
    Stroke 04/2014; · 6.16 Impact Factor
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    ABSTRACT: Anterior chamber depth (ACD) is a key anatomical risk factor for primary angle closure glaucoma (PACG). We conducted a genome-wide association study (GWAS) on ACD to discover novel genes for PACG on a total of 5,308 population-based individuals of Asian descent. Genome-wide significant association was observed at a sequence variant within ABCC5 (rs1401999; per-allele effect size = -0.045 mm, P = 8.17×10-9). This locus was associated with an increase in risk of PACG in a separate case-control study of 4,276 PACG cases and 18,801 controls (per-allele OR = 1.13 [95% CI: 1.06-1.22], P = 0.00046). The association was strengthened when a sub-group of controls with open angles were included in the analysis (per-allele OR = 1.30, P = 7.45×10-9; 3,458 cases vs. 3,831 controls). Our findings suggest that the increase in PACG risk could in part be mediated by genetic sequence variants influencing anterior chamber dimensions.
    PLoS Genetics 03/2014; 10(3):e1004089. · 8.52 Impact Factor
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    ABSTRACT: X-linked retinoschisis is a retinal dystrophy caused by mutations in the RS1 gene in Xp22.1. These mutations lead to schisis (splitting) of the neural retina and subsequent reduction in visual acuity in affected men (OMIM # 312700). The aim of this study was to identify the RS1 gene mutations in a cohort of Chinese patients with X-linked retinoschisis, and to describe the associated phenotypes. Patients and unaffected individuals from 16 unrelated families underwent detailed ophthalmic examinations. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. All exons including the exon-intron boundaries of the RS1 gene, were amplified by PCR and the products were analyzed by direct sequencing. Long-range PCR followed by DNA sequencing was used to define the breakpoints of the large deletion. Sixteen male individuals from 16 families were diagnosed with retinoschisis by clinical examination. The median age at review was 13.2 years (range: 5-34 years); the median best-corrected visual acuity upon review was 0.26 (range 0.02-1.0). Foveal schisis was found in 82.8% of the eyes (24/29) while peripheral schisis was present in 27.5% of the eyes (8/29). Sequencing of the RS1 gene identified 16 mutations, nine of which were novel. The mutations included eight missense mutations, all located in exons 4-6 (50.0%), two nonsense mutations (12.5%), four small deletions or insertions (25.0%), one splice site mutation (6.25%), and one large genomic deletion that included exon1 (6.25%). The mutations found in our study broaden the spectrum of RS1 mutations. The identification of the specific mutation in each pedigree will allow future determination of female carrier status for genetic counseling purposes.
    Molecular vision 01/2014; 20:132-9. · 1.99 Impact Factor
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    ABSTRACT: To evaluate the value of serum soluble transferrin receptor (sTfR) concentration in predicting early response to immunosuppressive therapy (IST) in severe aplastic anemia (SAA). Clinical data and hematologic responses of 140 SAA patients treated with rabbit antithymocyte globulin (rATG) combination with cyclosporine in our hospital were retrospectively analyzed. Correlation of pre-IST baseline of sTfR and IST responses was statistically analyzed and receiver operating characteristic (ROC) curve was used to estimate the sensitivity and specificity of sTfR in prediction of early responses. Serum concentration of sTfR in very SAA (VSAA)patients were significantly lower than SAA and transfusion dependent non-SAA cases (P=0.001). The responders, especially at 3 months, had significantly higher pre- IST baseline of sTfR[median, 0.89 (range, 0.21-2.42) mg/L]than that [median, 0.58 (range, 0.13-1.88) mg/L]of non-responders (P=0.005). The cutoff level of 0.91 mg/L and 0.88 mg/L for predicting responses at 3 and 6 months were established based on the ROC curve, with the degree of accuracy of 65.0% and 60.7% respectively. Multivariate analysis showed that pre-IST baseline of sTfR was the independent factor of predicting response at 3 months (P=0.007) and at 6 months (P=0.021). As a indicator of bone marrow failure severity, sTfR could predict early response to IST therapy in aplastic anemia.
    Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 08/2013; 34(8):709-13.
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    ABSTRACT: To investigate the clinical features and therapeutic method for severe aplastic anemia (SAA) associated with β-thalassemia, and to improve the recognition of the disease. One patient hospitalized for pancytopenia was reported and the related literatures were reviewed. A 14-years old girl who presented with anemia from her childhood was hospitalized for acute onset of pancytopenia. Routine blood test showed that WBC count was 1.28×10⁹/L, hemoglobin 65 g/L, platelet count 18×10⁹/L, reticulocyte count 2×10⁹/L, neutrophil count 0.03×10⁹/L and mean corpuscular volume 59.6 fl, respectively. Both bone marrow aspiration and biopsy showed hypoplasia. Her red blood cells presented as microcytic hypochromic and target erythrocytes were common on peripheral blood smear. DNA analysis of the patient and her mother showed exon 17 heterozygous β-thalassemia (c.52 A>T). A diagnosis of SAA associated with β-thalassemia was clarified and high-dose cyclophosphamide (HD-CTX, 1.2 g/d×4 d) plus cyclosporine were offeved, which eventually led to a complete hematologic remission 12 months later. This was the first report of SAA associated with β-thalassemia, and the regimen of HD-CTX led to a complete hematologic remission.
    Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 06/2013; 34(6):532-535.
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    ABSTRACT: To investigate the clinical and laboratory features of 2 cases of pure red cell aplasia (PRCA) with thymoma/T-cell large granular lymphocyte leukemia (T-LGLL), and to improve the recognition of the disease and the role of lymphocyte in its mechanism. Two cases of PRCA with thymoma/T-LGLL were reported and the related literatures were reviewed. Case 1 was a 63-years old male with hemoglobin level of 54 g/L at admission. Case 2 was a 52-years old female with hemoglobin level of 79 g/L at admission. They were both diagnosed as PRCA with thymoma before admission to our hospital and had no benefit from their thymectomy. Further examinations in our hospital showed that CD3⁺CD4⁻CD8⁺CD57⁺ large granular lymphocytes amplified with clonal TCR rearrangment in their peripheral blood. The diagnosis of PRCA with thymoma/T-LGLL was clarified. Case 1 did not respond to any of the frontline therapies while case 2 responded completely to cyclosporine. Both thymoma and T-LGLL could be the cause of secondary PRCA, lymphocyte proliferation may play critical role in the pathogenesis.
    Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 06/2013; 34(6):536-539.
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    ABSTRACT: T-cell large granular lymphocyte leukemia (T-LGLL) is a rare chronic lymphoproliferative disorder. Available reported data on the treatment regimens of this disease are variable and limited due to low number of patients. We analyzed the efficiency of cyclosporine A (CsA) in the treatment of 28 patients with T-LGLL. The overall response rate (ORR) was 82.1% with hematologic complete remission (HCR) rate of 57.1%. The median time to response (TTR) was 1.8 months and treatment duration with CsA-based regimens was 34.5 months. CsA shows low and manageable toxicity during treatment. Twenty-one patients survived with a median follow-up time of 42.0 months. Our results indicate that CsA is efficacious and safe in the treatment of T-LGLL.
    Leukemia research 02/2013; · 2.36 Impact Factor
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    ABSTRACT: A modified high-dose cyclophosphamide (HD-CTX) plus cyclosporine (CsA) regimen was adopted for severe/very severe aplastic anemia (SAA/VSAA) patients, and the effectiveness was compared with that of antithymocyte globulin (ATG) plus CsA regimen. A total of 121 patients enrolled in this study received either CTX plus CsA (CTX group, 48 cases) or ATG plus CSA (ATG group, 73 cases). The early death rate was 4.2% in CTX group and 8.2% in ATG group, showing no significant difference (p=0.312). The total response rate in CTX group and in ATG group was 54.2% and 57.5% at 3 months, 64.6% and 72.6% at 6 months, and 72.9% and 78.1% at 12 months, respectively (p>0.05). The overall 5-year survival rate was 81.2% and 80.7%, and the event free survival rate was 68.2% and 67.3% in CTX and ATG groups, respectively (p>0.05). The total medical cost of CTX group was 54.8% less than that of ATG regimen (p=0.000). In summary, treatment of SAA/VSAA with CTX plus CsA has comparable effectiveness to conventional regimen and less cost.
    Experimental hematology 01/2013; · 3.11 Impact Factor
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    ABSTRACT: To describe the clinical and genetic findings in a Chinese family with autosomal dominant cone dystrophy (adCOD). One family was examined clinically, and genomic DNA was extracted from venous blood of all participants. Genotyping and haplotyping analysis was performed on the known genetic loci for adCOD and autosomal dominant cone-rod dystrophies (adCORD) with a panel of polymorphic markers in this family. All coding exons of the AIPL1, PTTPNM3, and GUCY2D gene were directly sequenced. Allele-specific PCR was used to validate a substitution in all available family members and 100 normal controls. Bioinformatics analysis was done using the Garnier-Osguthorpe-Robson method to predict the effect of the variants detected on the secondary structure of the GUCY2D protein. Clinical examination and pedigree analysis revealed a three-generation family with four members diagnosed with adCOD. Through genotyping, the disease-causing genes were mapped to chromosomes 17p13.1-2 (AIPL1, PITPNM3, and GUCY2D gene). A novel A->G transition at position 2545 (p.T849A) of the cDNA sequence was identified in the GUCY2D gene. No mutation was detected in the AIPL1 and PITPNM3 genes. This missense mutation co-segregated with the disease phenotype of the family but was not found in the 100 normal controls. A novel missense mutation of the GUCY2D gene was identified in this study. Our results further confirm that the dimerization zone of RetGC-1 is the mutational hot region for COD and CORD.
    Molecular vision 01/2013; 19:1039-46. · 1.99 Impact Factor
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    ABSTRACT: To identify the causative mutations in two Chinese families with retinitis pigmentosa (RP), and to describe the associated phenotype. Individuals from two unrelated families underwent full ophthalmic examinations. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Linkage analysis was performed on the known genetic loci for autosomal dominant retinitis pigmentosa with a panel of polymorphic markers in the two families, and then all coding exons of the PRP31 premessenger ribonucleic acid processing factor 31 homolog (PRPF31) gene were screened for mutations with direct sequencing of PCR-amplified DNA fragments. Allele-specific PCR was used to validate a substitution in all available family members and 100 normal controls. A large deletion was detected with real-time quantitative PCR (RQ-PCR) using a panel of primers from regions around the PRPF31 gene. Long-range PCR, followed by DNA sequencing, was used to define the breakpoints. Clinical examination and pedigree analysis revealed two four-generation families (RP24 and RP106) with autosomal dominant retinitis pigmentosa. A significant two-point linkage odd disequilibrium score was generated at marker D19S926 (Zmax=3.55, θ=0) for family RP24 and D19S571 (Zmax=3.21, θ=0) for family RP106, and further linkage and haplotype studies confined the disease locus to chromosome 19q13.42 where the PRPF31 gene is located. Mutation screening of the PRPF31 gene revealed a novel deletion c.1215delG (p.G405fs+7X) in family RP106. The deletion cosegregated with the family's disease phenotype, but was not found in 100 normal controls. No disease-causing mutation was detected in family RP24 with PCR-based sequencing analysis. RQ-PCR and long-range PCR analysis revealed a complex insertion-deletion (indel) in the patients of family RP24. The deletion is more than 19 kb and encompasses part of the PRPF31 gene (exons 1-3), together with three adjacent genes. Our results further confirmed that haploinsufficiency is the main mechanism for RP11 and that genomic arrangements may be prevalent in PRPF31 mutations.
    Molecular vision 01/2013; 19:2426-2435. · 1.99 Impact Factor
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    ABSTRACT: The population-based "Asymptomatic Polyvascular Abnormalities in Community (APAC) Study was designed to examine prevalence and associations of asymptomatic polyvascular abnormalities (APA) in a general population. In this report, the objectives, design and baseline data of the APAC study are described. The study included 5,440 participants (40.1% women) with an age of 40+ years who were randomly selected from the population of the Kailuan Study which included 101,510 employees and retirees of the Kailuan Co. Ltd, a large coal mine industry located in Tangshan, Hebei, China. Exclusion criteria were previous cerebral stroke, transient ischemic attacks and coronary heart disease. In 2010 and 2011, information on potential cardiovascular risk factors was collected and all participants underwent transcranial Doppler sonography, measurement of the ankle brachial index, and bilateral carotid duplex sonography. In a first follow-up examination in 2012/2013, retinal photography and spectral-domain optical coherence tomography were additionally performed. In a planned long-term follow-up, data from clinical examinations and laboratory tests and the occurrence of cardiovascular or cerebrovascular events will be collected to build up a predicting model for the risk of ischemic events. At baseline, mean age of the participants was 55.2±11.8 years, and men showed a significantly (P<0.001) higher prevalence of arterial hypertension (55.5% vs. 36.5%) and hyperlipidemia (50.7% vs. 46.0%) and a higher blood homocysteine concentration (18.68±10.28µmol/L versus 11.69±6.40µmol/L). The APAC is the first study to prospectively evaluate the relationship between intracranial arterial stenosis, retinal nerve fiber layer changes, retinal microvascular signs, and the eventual development of cerebrovascular or cardiovascular events.
    PLoS ONE 01/2013; 8(12):e84685. · 3.53 Impact Factor
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    ABSTRACT: Both continuous and categorical covariates are common in traditional Chinese medicine (TCM) research, especially in the clinical syndrome identification and in the risk prediction research. For groups of dummy variables which are generated by the same categorical covariate, it is important to penalize them group-wise rather than individually. In this paper, we discuss the group lasso method for a risk prediction analysis in TCM osteoporosis research. It is the first time to apply such a group-wise variable selection method in this field. It may lead to new insights of using the grouped penalization method to select appropriate covariates in the TCM research. The introduced methodology can select categorical and continuous variables, and estimate their parameters simultaneously. In our application of the osteoporosis data, four covariates (including both categorical and continuous covariates) are selected out of 52 covariates. The accuracy of the prediction model is excellent. Compared with the prediction model with different covariates, the group lasso risk prediction model can significantly decrease the error rate and help TCM doctors to identify patients with a high risk of osteoporosis in clinical practice. Simulation results show that the application of the group lasso method is reasonable for the categorical covariates selection model in this TCM osteoporosis research.
    Journal of Applied Statistics 01/2013; 40(4). · 0.45 Impact Factor
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    ABSTRACT: Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from a further 6 sample collections. We report significant associations at three new loci: rs11024102 in PLEKHA7 (per-allele odds ratio (OR) = 1.22; P = 5.33 × 10(-12)), rs3753841 in COL11A1 (per-allele OR = 1.20; P = 9.22 × 10(-10)) and rs1015213 located between PCMTD1 and ST18 on chromosome 8q (per-allele OR = 1.50; P = 3.29 × 10(-9)). Our findings, accumulated across these independent worldwide collections, suggest possible mechanisms explaining the pathogenesis of PACG.
    Nature Genetics 08/2012; 44(10):1142-6. · 35.21 Impact Factor

Publication Stats

479 Citations
154.60 Total Impact Points

Institutions

  • 2011–2014
    • Renmin University of China
      • School of Statistics
      Peping, Beijing, China
  • 2004–2014
    • Capital Medical University
      • Department of Neurosurgery
      Peping, Beijing, China
  • 2012
    • Singapore National Eye Centre
      Tumasik, Singapore
  • 2008
    • Beijing University of Aeronautics and Astronautics (Beihang University)
      • State Key Laboratory for Environmental Software Development
      Beijing, Beijing Shi, China
    • University of Utah
      • Department of Ophthalmology and Visual Sciences
      Salt Lake City, UT, United States
  • 2002–2005
    • Stevens Institute of Technology
      • Department of Electrical & Computer Engineering
      Hoboken, NJ, United States
  • 2001–2004
    • Cleveland Clinic
      Cleveland, Ohio, United States
    • University College London
      • Institute of Ophthalmology
      London, ENG, United Kingdom