Margaret M. DeAngelis M.S., Ph.D
Margaret M. DeAngelis
M.S., Ph.D
Professional Summary:
Dr. DeAngelis’ program of research utilizes a systems-biology-based approach to understand disease mechanisms in both Mendelian and complex blinding conditions, including age-related macular degeneration (AMD), glaucoma, diabetic retinopathy, and hypertensive retinopathy; and co-segregating conditions (Alzheimer’s disease, cardiovascular disease, and diabetes). This translational research is funded by the NIH, private foundations, and the pharmaceutical industry. She is ultimately focused on identifying mechanisms and potential targets for treatment in these disease areas, across their stages of development.
To enhance translational efforts, her laboratory and colleagues have created a well-characterized fresh human donor eye bank of ocular tissue, blood, serum, and plasma. Using this resource, contrasting healthy eyes with diseased eyes (deeply phenotyped) has helped delineate potential disease mechanisms. Dr. DeAngelis leverages genomic approaches including, single-cell RNASeq, miRNAseq, bulk RNA-Seq, single nuclei ATAC-Seq, allele-specific expression, epigenetic and statistical/bioinformatics tools to functionally characterize disease mechanisms. She has published the only standardized phenotyping protocol for human donor eyes specifically used for biochemical and molecular studies. The success of the eye bank is dependent on close collaboration with several board-certified ophthalmologists and fellowship-trained specialists.
Dr. DeAngelis has extensive experience in leading scientific teams for patient ascertainment and recruitment in ethnically diverse vulnerable patient populations within the United States and globally. This research effort includes genetic and epidemiological studies of blinding diseases on the reservations of the federally recognized Native American tribes of the intermountain west. She has also worked with the Mayan population of Salma, Guatemala for genetic epidemiologic factors driving cataract, glaucoma, and pseudoexfoliation syndrome. The success of these studies has been in large part dependent on collaboration across disciplines, and significant community outreach and engagement to inform design and appreciation of the clinical/public health implications of the work.
Dr. DeAngelis is committed to and has extensive experience teaching and mentoring the next generation of scientists and clinician-scientists. She is a mentor and advisor to undergraduates, graduate students, medical students, fellows, and junior faculty. She teaches classes for neuroscience, human genetics, ophthalmology, biochemistry, molecular biology, and epidemiology. She actively works to foster inclusion and diversity in her work and is a passionate advocate for women and minority voices to be heard and valued in science.
Dr. DeAngelis has over 100 publications, serves on several journal editorial boards, and serves on the steering/leadership committee for the International AMD Genetics Consortium, sponsored by the NEI/NIH; and also the Scientific Oversight Committee for The Global Eye Genetics Consortium (NEI/NIH). She also chairs/serves on several NIH study section review panels, the Department of Defense, and foundation grant review panels.
Education and Training:
- Certificate, statistics, Rockefeller University (2004)
- Fellowship, Human genetics, statistics, bioinformatics, ophthalmology, epidemiology, Harvard Medical School/MEEI (2003)
- PhD, Neuroscience, Louisiana State University Health Sciences Center (1999)
- MS, Physiology, Medical College of Virginia (1993)
Employment:
- Assistant Professor, Ophthalmology, Massachusetts Eye and Ear Infirmary Harvard Medical School (2007–2010)
- Instructor, Ophthalmology, Massachussets Eye and Ear Infiramary Harvard Medical School (2003–2007)
Awards and Honors:
- Silver Fellow of the Association for Research in Vision and Ophthalmology (2024)
- Sigma Xi (2021)
Research Expertise:
- Genetics, Genomics and Bioinformatics
Grants and Sponsored Research:
- May 2020–July 2025
Epigenetic Architecture of the RPE and Choroid: Identification of Therapeutic Targets For AMD
Macular Degeneration Foundation, Inc
Role: Principal Investigator
$500,000 - February 2022–January 2025
Pediatric network for the human cell atlas in the eye
Chan-Zuckerberg
Role: Co-Principal Investigator
$517,500 - February 2022–January 2025
Ancestry Network for the human cell atlas in the eye
Chan-Zuckerberg Initiative
Role: Co-Principal Investigator
$536,859 - –January 2025
Deconstructing and modeling the single cell architecture of the age-related macular degeneration retina
NEI/NIH
Role: Co-Principal Investigator
$1,822,713 - June 2021–December 2023
Single nucleus chromatin accessibility and transcriptomic characterization of Age-related macular degeneration
Genentech, Inc
Role: Principal Investigator
$1,127,213 - October 2020–October 2023
Generation of a human cell neural retina atlas with single cell RNA Seq
Chan-Zuckerberg
Role: Co-Principal Investigator
$345,621
Journal Articles:
- Li X, Owen LA, Taylor KD, Ostmo S, Chen YI, Coyner AS, Sonmez K, Hartnett ME, Guo X, Ipp E, Roll K, Genter P, Chan RVP, DeAngelis MM, Chiang MF, Campbell JP, Rotter JI, . (2024) Genome-wide association identifies novel ROP risk loci in a multiethnic cohort. Communications biology (Jan), 7(1): 107. doi:10.1038/s42003-023-05743-9
- McNamee SM, Chan NP, Akula M, Avola MO, Whalen M, Nystuen K, Singh P, Upadhyay AK, DeAngelis MM, Haider NB. (2024) Preclinical dose response study shows NR2E3 can attenuate retinal degeneration in the retinitis pigmentosa mouse model RhoP23H+/. Gene therapy (Jan).
- Nystuen KL, McNamee SM, Akula M, Holton KM, DeAngelis MM, Haider NB. (2024) Alzheimer's Disease: Models and Molecular Mechanisms Informing Disease and Treatments. Bioengineering (Basel, Switzerland) (Jan), 11(1). doi:10.3390/bioengineering11010045
- Shwani T, Zhang C, Owen LA, Shakoor A, Vitale AT, Lillvis JH, Barr JL, Cromwell P, Finley R, Husami N, Au E, Zavala RA, Graves EC, Zhang SX, Farkas MH, Ammar DA, Allison KM, Tawfik A, Sherva RM, Li M, Stambolian D, Kim IK, Farrer LA, DeAngelis MM. (2023) Patterns of Gene Expression, Splicing, and Allele-Specific Expression Vary among Macular Tissues and Clinical Stages of Age-Related Macular Degeneration. Cells (Nov), 12(23). doi:10.3390/cells12232668
- Li J, Wang J, Ibarra IL, Cheng X, Luecken MD, Lu J, Monavarfeshani A, Yan W, Zheng Y, Zuo Z, Colborn SLZ, Cortez BS, Owen LA, Tran NM, Shekhar K, Sanes JR, Stout JT, Chen S, Li Y, DeAngelis MM, Theis FJ, Chen R. (2023) Integrated multi-omics single cell atlas of the human retina. Research square (Nov). doi:10.21203/rs.3.rs-3471275/v1
- Wang J, Cheng X, Liang Q, Owen LA, Lu J, Zheng Y, Wang M, Chen S, DeAngelis MM, Li Y, Chen R. (2023) Single-cell multiomics of the human retina reveals hierarchical transcription factor collaboration in mediating cell type-specific effects of genetic variants on gene regulation. Genome biology (Nov), 24(1): 269. doi:10.1186/s13059-023-03111-8
- Guo S, Liu X, Cheng X, Jiang Y, Ji S, Liang Q, Koval A, Li Y, Owen LA, Kim IK, Aparicio A, Shen JP, Kopetz S, Weinstein JN, DeAngelis MM, Chen R, Wang W. (2023) DeMixSC: a deconvolution framework that uses single-cell sequencing plus a small benchmark dataset for improved analysis of cell-type ratios in complex tissue samples. bioRxiv : the preprint server for biology (Nov). doi:10.1101/2023.10.10.561733
- Owen LA, Zhang C, Shirer K, Carroll L, Wood B, Szczotka K, Cornia C, Stubben C, Fung C, Yost CC, Katikaneni LD, DeAngelis MM, Comstock J. (2023) Placental Inflammation Significantly Correlates with Reduced Risk for Retinopathy of Prematurity. The American journal of pathology (Nov), 193(11): 1776-1788. doi:10.1016/j.ajpath.2023.02.003
- Orozco LD, Owen LA, Hofmann J, Stockwell AD, Tao J, Haller S, Mukundan VT, Clarke C, Lund J, Sridhar A, Mayba O, Barr JL, Zavala RA, Graves EC, Zhang C, Husami N, Finley R, Au E, Lillvis JH, Farkas MH, Shakoor A, Sherva R, Kim IK, Kaminker JS, Townsend MJ, Farrer LA, Yaspan BL, Chen HH, DeAngelis MM. (2023) A systems biology approach uncovers novel disease mechanisms in age-related macular degeneration. Cell genomics (Jun), 3(6): 100302. doi:10.1016/j.xgen.2023.100302
- Liang Q, Cheng X, Wang J, Owen L, Shakoor A, Lillvis JL, Zhang C, Farkas M, Kim IK, Li Y, DeAngelis M, Chen R. (2023) A multi-omics atlas of the human retina at single-cell resolution. Cell genomics (Jun), 3(6): 100298. doi:10.1016/j.xgen.2023.100298
- Rotter J, Li X, Owen LA, Taylor K, Ostmo S, Chen YI, Coyner A, Sonmez K, Hartnett ME, Guo X, Ipp E, Roll K, Genter P, Chan RVP, DeAngelis M, Chiang M, Campbell JP. (2023) Genome-wide association identifies novel ROP risk loci in a multi-ethnic cohort. Research square (May). doi:10.21203/rs.3.rs-2855404/v1
- Barr JL, Feehan M, Tak C, Owen LA, Finley RC, Cromwell PA, Lillvis JH, Hicks PM, Au E, Farkas MH, Weiner A, Reynolds AL, Sieminski SF, Sherva RM, Munger MA, Brilliant MH, DeAngelis MM. (2023) Heritable Risk and Protective Genetic Components of Glaucoma Medication Non-Adherence. International journal of molecular sciences (Mar), 24(6). doi:10.3390/ijms24065636
- Nagel-Wolfrum K, Fadl BR, Becker MM, Wunderlich KA, Schäfer J, Sturm D, Fritze J, Gür B, Kaplan L, Andreani T, Goldmann T, Brooks M, Starostik MR, Lokhande A, Apel M, Fath KR, Stingl K, Kohl S, DeAngelis MM, Schlötzer-Schrehardt U, Kim IK, Owen LA, Vetter JM, Pfeiffer N, Andrade-Navarro MA, Grosche A, Swaroop A, Wolfrum U. (2023) Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy. Human molecular genetics (Jan), 32(3): 431-449. doi:10.1093/hmg/ddac211
- Chung J, Vig V, Sun X, Han X, O'Connor GT, Chen X, DeAngelis MM, Farrer LA, Subramanian ML. (2022) Genome-Wide Pleiotropy Study Identifies Association of PDGFB with Age-Related Macular Degeneration and COVID-19 Infection Outcomes. Journal of clinical medicine (Dec), 12(1). doi:10.3390/jcm12010109
- Hanineva A, Park KS, Wang JJ, DeAngelis MM, Farkas MH, Zhang SX. (2022) Emerging roles of circular RNAs in retinal diseases. Neural regeneration research (Sep), 17(9): 1875-1880. doi:10.4103/1673-5374.335691
- Zhang C, Owen LA, Lillvis JH, Zhang SX, Kim IK, DeAngelis MM. (2022) AMD Genomics: Non-Coding RNAs as Biomarkers and Therapeutic Targets. Journal of clinical medicine (Mar), 11(6). doi:10.3390/jcm11061484
- Feehan M, Owen LA, McKinnon IM, DeAngelis MM. (2021) Artificial Intelligence, Heuristic Biases, and the Optimization of Health Outcomes: Cautionary Optimism. Journal of clinical medicine (Nov), 10(22) doi:10.3390/jcm10225284
- Samra YA, Kira D, Rajpurohit P, Mohamed R, Owen LA, Shakoor A, Kim IK, DeAngelis MM, Sheibani N, Al-Shabrawey M, Tawfik A. (2021) Implication of N-Methyl-d-Aspartate Receptor in Homocysteine-Induced Age-Related Macular Degeneration. International journal of molecular sciences (Aug), 22(17). doi:10.3390/ijms22179356
- Siedlecki AR, Hicks PM, Haaland B, DeAngelis MM, Sieminski SF. (2021) Efficacy of Selective Laser Trabeculoplasty after iStent Implantation in Primary Open-Angle Glaucoma. Journal of personalized medicine (Aug), 11(8). doi:10.3390/jpm11080797
- Hicks PM, Au E, Self W, Haaland B, Feehan M, Owen LA, Siedlecki A, Nuttall E, Harrison D, Reynolds AL, Lillvis JH, Sieminski S, Shulman JP, Barnoya M, Noguera Prera JJ, Gonzalez O, Murtaugh MA, Williams LB, Farkas MH, Crandall AS, DeAngelis MM. (2021) Pseudoexfoliation and Cataract Syndrome Associated with Genetic and Epidemiological Factors in a Mayan Cohort of Guatemala. International journal of environmental research and public health (Jul), 18(14). doi:10.3390/ijerph18147231
- Li S, Datta S, Brabbit E, Love Z, Woytowicz V, Flattery K, Capri J, Yao K, Wu S, Imboden M, Upadhyay A, Arumugham R, Thoreson WB, DeAngelis MM, Haider NB. (2021) Nr2e3 is a genetic modifier that rescues retinal degeneration and promotes homeostasis in multiple models of retinitis pigmentosa. Gene therapy (May), 28(5): 223-241. doi:10.1038/s41434-020-0134-z
- Thornburg CD, Erickson SW, Page GP, Clark EAS, DeAngelis MM, Hartnett ME, Goldstein RF, Dagle JM, Murray JC, Poindexter BB, Das A, Cotten CM, . (2021) Genetic predictors of severe intraventricular hemorrhage in extremely low-birthweight infants. Journal of perinatology : official journal of the California Perinatal Association (Feb), 41(2): 286-294. doi:10.1038/s41372-020-00821-w
- Hicks PM, Haaland B, Feehan M, Crandall AS, Pettey JH, Nuttall E, Self W, Hartnett ME, Bernstein P, Vitale A, Shakoor A, Shulman JP, Sieminski SF, Kim I, Owen LA, Murtaugh MA, Noyes A, DeAngelis MM. (2020) Systemic Disease and Ocular Comorbidity Analysis of Geographically Isolated Federally Recognized American Indian Tribes of the Intermountain West. Journal of clinical medicine (Nov), 9(11). doi:10.3390/jcm9113590
- Ibrahim AS, Hussein K, Wang F, Wan M, Saad N, Essa M, Kim I, Shakoor A, Owen LA, DeAngelis MM, Al-Shabrawey M. (2020) Bone Morphogenetic Protein (BMP)4 But Not BMP2 Disrupts the Barrier Integrity of Retinal Pigment Epithelia and Induces Their Migration: A Potential Role in Neovascular Age-Related Macular Degeneration. Journal of clinical medicine (Jul), 9(7). doi:10.3390/jcm9072293
- Owen LA, Shirer K, Collazo SA, Szczotka K, Baker S, Wood B, Carroll L, Haaland B, Iwata T, Katikaneni LD, DeAngelis MM. (2020) The Serine Protease HTRA-1 Is a Biomarker for ROP and Mediates Retinal Neovascularization. Frontiers in molecular neuroscience (Jan), 13: 605918. doi:10.3389/fnmol.2020.605918
- Liang Q, Dharmat R, Owen L, Shakoor A, Li Y, Kim S, Vitale A, Kim I, Morgan D, Liang S, Wu N, Chen K, DeAngelis MM, Chen R. (2019) Single-nuclei RNA-seq on human retinal tissue provides improved transcriptome profiling. Nature communications (Dec), 10(1): 5743. doi:10.1038/s41467-019-12917-9
- Williams LB, Javed A, Sabri A, Morgan DJ, Huff CD, Grigg JR, Heng XT, Khng AJ, Hollink IHIM, Morrison MA, Owen LA, Anderson K, Kinard K, Greenlees R, Novacic D, Nida Sen H, Zein WM, Rodgers GM, Vitale AT, Haider NB, Hillmer AM, Ng PC, Shankaracharya , Cheng A, Zheng L, Gillies MC, van Slegtenhorst M, van Hagen PM, Missotten TOAR, Farley GL, Polo M, Malatack J, Curtin J, Martin F, Arbuckle S, Alexander SI, Chircop M, Davila S, Digre KB, Jamieson RV, DeAngelis MM. (2019) ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. Genetics in medicine : official journal of the American College of Medical Genetics (Sep), 21(9): 2103-2115. doi:10.1038/s41436-019-0476-3
- Ronquillo CC, Sauer L, Morgan D, Heckzo JB, Creel DJ, Mamalis N, DeAngelis MM, Hagemann GS, Bernstein PS. (2019) ABSENCE OF MACULAR DEGENERATION IN A PATIENT WITH ACERULOPLASMINEMIA. Retina (Philadelphia, Pa.) (Sep), 39(9): 1824-1828.
- Kim S, Lowe A, Dharmat R, Lee S, Owen LA, Wang J, Shakoor A, Li Y, Morgan DJ, Hejazi AA, Cvekl A, DeAngelis MM, Zhou ZJ, Chen R, Liu W. (2019) Generation, transcriptome profiling, and functional validation of cone-rich human retinal organoids. Proceedings of the National Academy of Sciences of the United States of America (May), 116(22): 10824-10833. doi:10.1073/pnas.1901572116
- Hwang ES, Morgan DJ, Pennington KL, Owen LA, Fingert JH, Bernstein PS, DeAngelis MM. (2019) Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology. BMC medical genetics (Apr), 20(1): 63. doi:10.1186/s12881-019-0800-4
- Owen LA, Shakoor A, Morgan DJ, Hejazi AA, McEntire MW, Brown JJ, Farrer LA, Kim I, Vitale A, DeAngelis MM. (2019) The Utah Protocol for Postmortem Eye Phenotyping and Molecular Biochemical Analysis. Investigative ophthalmology & visual science (Mar), 60(4): 1204-1212. doi:10.1167/iovs.18-24254
- Tawfik A, Mohamed R, Elsherbiny NM, DeAngelis MM, Bartoli M, Al-Shabrawey M. (2019) Homocysteine: A Potential Biomarker for Diabetic Retinopathy. Journal of clinical medicine (Jan), 8(1). doi:10.3390/jcm8010121
- Hicks PM, Melendez SAC, Vitale A, Self W, Hartnett ME, Bernstein P, Morgan DJ, Feehan M, Shakoor A, Kim I, Owen LA, DeAngelis MM. (2019) Genetic Epidemiologic Analysis of Hypertensive Retinopathy in an Underrepresented and Rare Federally Recognized Native American Population of the Intermountain West. Journal of community medicine & public health (Jan), 3(1).
- Feehan M, Walsh M, Van Duker H, Godin J, Munger MA, Fleming R, Johnson SA, Morrison MA, DeAngelis MM, Witt DM. (2018) Prevalence and correlates of bleeding and emotional harms in a national US sample of patients with venous thromboembolism: A cross-sectional structural equation model. Thrombosis research (Dec), 172: 181-187.
- Papakostas TD, Morrison MA, Lane AM, Awh C, DeAngelis MM, Gragoudas ES, Kim IK. (2018) Genetic Risk Factors for Radiation Vasculopathy. Investigative ophthalmology & visual science (Mar), 59(3): 1547-1553.
- Gerhardt MJ, Marsh JA, Morrison M, Kazlauskas A, Khadka A, Rosenkranz S, DeAngelis MM, Saint-Geniez M, Jacobo SMP. (2017) ER stress-induced aggresome trafficking of HtrA1 protects against proteotoxicity. Journal of molecular cell biology (Dec), 9(6): 533. doi:10.1093/jmcb/mjx040
- Gerhardt MJ, Marsh JA, Morrison M, Kazlauskas A, Khadka A, Rosenkranz S, DeAngelis MM, Saint-Geniez M, Jacobo SMP. (2017) ER stress-induced aggresome trafficking of HtrA1 protects against proteotoxicity. Journal of molecular cell biology (Dec), 9(6): 516-532. doi:10.1093/jmcb/mjx024
- DeAngelis MM, Owen LA, Morrison MA, Morgan DJ, Li M, Shakoor A, Vitale A, Iyengar S, Stambolian D, Kim IK, Farrer LA. (2017) Genetics of age-related macular degeneration (AMD). Human molecular genetics (Oct), 26(R2): R246. doi:10.1093/hmg/ddx343
- Olivares AM, Han Y, Soto D, Flattery K, Marini J, Molemma N, Haider A, Escher P, DeAngelis MM, Haider NB. (2017) Corrigendum to "The Nuclear Hormone Receptor Nr2c1 (Tr2) is a critical regulator of early retina cell pattering" [Dev. Biol. 16 (2017) 30797-7]. Developmental biology (Sep), 429(1): 370.
- Olivares AM, Han Y, Soto D, Flattery K, Marini J, Mollema N, Haider A, Escher P, DeAngelis MM, Haider NB. (2017) The nuclear hormone receptor gene Nr2c1 (Tr2) is a critical regulator of early retina cell patterning. Developmental biology (Sep), 429(1): 343-355.
- DeAngelis MM, Owen LA, Morrison MA, Morgan DJ, Li M, Shakoor A, Vitale A, Iyengar S, Stambolian D, Kim IK, Farrer LA. (2017) Genetics of age-related macular degeneration (AMD). Human molecular genetics (Aug), 26(R1): R45-R50. doi:10.1093/hmg/ddx228
- Olivares AM, Althoff K, Chen GF, Wu S, Morrisson MA, DeAngelis MM, Haider N. (2017) Animal Models of Diabetic Retinopathy. Current diabetes reports (Aug), 17(10): 93. doi:10.1007/s11892-017-0913-0
- Li M, Zauhar RJ, Grazal C, Curcio CA, DeAngelis MM, Stambolian D. (2017) RNA expression in human retina. Human molecular genetics (Aug), 26(R1): R68-R74. doi:10.1093/hmg/ddx219
- Feehan M, Morrison MA, Tak C, Morisky DE, DeAngelis MM, Munger MA. (2017) Factors predicting self-reported medication low adherence in a large sample of adults in the US general population: a cross-sectional study. BMJ open (Jun), 7(6): e014435. doi:10.1136/bmjopen-2016-014435
- Olivares AM, Jelcick AS, Reinecke J, Leehy B, Haider A, Morrison MA, Cheng L, Chen DF, DeAngelis MM, Haider NB. (2017) Multimodal Regulation Orchestrates Normal and Complex Disease States in the Retina. Scientific reports (Apr), 7(1): 690. doi:10.1038/s41598-017-00788-3
- Owen LA, Morrison MA, Hoffman RO, Yoder BA, DeAngelis MM. (2017) Retinopathy of prematurity: A comprehensive risk analysis for prevention and prediction of disease. PloS one (Jan), 12(2): e0171467. doi:10.1371/journal.pone.0171467
- Feehan M, Munger MA, Cooper DK, Hess KT, Durante R, Jones GJ, Montuoro J, Morrison MA, Clegg D, Crandall AS, DeAngelis MM. (2016) Adherence to Glaucoma Medications Over 12 Months in Two US Community Pharmacy Chains. Journal of clinical medicine (Sep), 5(9). doi:10.3390/jcm5090079
- Fan Q, Verhoeven VJ, Wojciechowski R, Barathi VA, Hysi PG, Guggenheim JA, Höhn R, Vitart V, Khawaja AP, Yamashiro K, Hosseini SM, Lehtimäki T, Lu Y, Haller T, Xie J, Delcourt C, Pirastu M, Wedenoja J, Gharahkhani P, Venturini C, Miyake M, Hewitt AW, Guo X, Mazur J, Huffman JE, Williams KM, Polasek O, Campbell H, Rudan I, Vatavuk Z, Wilson JF, Joshi PK, McMahon G, St Pourcain B, Evans DM, Simpson CL, Schwantes-An TH, Igo RP, Mirshahi A, Cougnard-Gregoire A, Bellenguez C, Blettner M, Raitakari O, Kähönen M, Seppala I, Zeller T, Meitinger T, , Ried JS, Gieger C, Portas L, van Leeuwen EM, Amin N, Uitterlinden AG, Rivadeneira F, Hofman A, Vingerling JR, Wang YX, Wang X, Tai-Hui Boh E, Ikram MK, Sabanayagam C, Gupta P, Tan V, Zhou L, Ho CE, Lim W, Beuerman RW, Siantar R, Tai ES, Vithana E, Mihailov E, Khor CC, Hayward C, Luben RN, Foster PJ, Klein BE, Klein R, Wong HS, Mitchell P, Metspalu A, Aung T, Young TL, He M, Pärssinen O, van Duijn CM, Jin Wang J, Williams C, Jonas JB, Teo YY, Mackey DA, Oexle K, Yoshimura N, Paterson AD, Pfeiffer N, Wong TY, Baird PN, Stambolian D, Wilson JE, Cheng CY, Hammond CJ, Klaver CC, Saw SM, Rahi JS, Korobelnik JF, Kemp JP, Timpson NJ, Smith GD, Craig JE, Burdon KP, Fogarty RD, Iyengar SK, Chew E, Janmahasatian S, Martin NG, MacGregor S, Xu L, Schache M, Nangia V, Panda-Jonas S, Wright AF, Fondran JR, Lass JH, Feng S, Zhao JH, Khaw KT, Wareham NJ, Rantanen T, Kaprio J, Pang CP, Chen LJ, Tam PO, Jhanji V, Young AL, Döring A, Raffel LJ, Cotch MF, Li X, Yip SP, Yap MK, Biino G, Vaccargiu S, Fossarello M, Fleck B, Yazar S, Tideman JW, Tedja M, Deangelis MM, Morrison M, Farrer L, Zhou X, Chen W, Mizuki N, Meguro A, Mäkelä KM. (2016) Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error. Nature communications (Mar), 7: 11008. doi:10.1038/ncomms11008
- Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HP, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YT, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GH, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel JA, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze JF, Igo RP, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, Khan JC, Shahid H, Moore AT, McGrath JA, Laux R, Brantley MA, Agarwal A, Ersoy L, Caramoy A, Langmann T, Saksens NT, de Jong EK, Hoyng CB, Cain MS, Richardson AJ, Martin TM, Blangero J, Weeks DE, Dhillon B, van Duijn CM, Doheny KF, Romm J, Klaver CC, Hayward C, Gorin MB, Klein ML, Baird PN, den Hollander AI, Fauser S, Yates JR, Allikmets R, Wang JJ, Schaumberg DA, Klein BE, Hagstrom SA, Chowers I, Lotery AJ, Léveillard T, Zhang K, Brilliant MH, Hewitt AW, Swaroop A, Chew EY, Pericak-Vance MA, DeAngelis M, Stambolian D, Haines JL, Iyengar SK, Weber BH, Abecasis GR, Heid IM. (2016) A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nature genetics (Feb), 48(2): 134-43. doi:10.1038/ng.3448
- Pennington KL, DeAngelis MM. (2016) Epidemiology of age-related macular degeneration (AMD): associations with cardiovascular disease phenotypes and lipid factors. Eye and vision (London, England) (Jan), 3: 34. doi:10.1186/s40662-016-0063-5
- Ord LM, Wright J, DeAngelis MM, Feehan M. (2015) Quality of Life with Macular Degeneration Is Not as Dark as It May Seem: Patients' Perceptions of the MacDQoL Questionnaire. Journal of clinical medicine (Sep), 4(9): 1841-52. doi:10.3390/jcm4091841
- Gupta MP, Lane AM, DeAngelis MM, Mayne K, Crabtree M, Gragoudas ES, Kim IK. (2015) Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations. JAMA ophthalmology (Aug), 133(8): 881-7.
- Pennington KL, DeAngelis MM. (2015) Epigenetic Mechanisms of the Aging Human Retina. Journal of experimental neuroscience (Jan), 9(Suppl 2): 51-79. doi:10.4137/JEN.S25513
- Morrison MA, Magalhaes TR, Ramke J, Smith SE, Ennis S, Simpson CL, Portas L, Murgia F, Ahn J, Dardenne C, Mayne K, Robinson R, Morgan DJ, Brian G, Lee L, Woo SJ, Zacharaki F, Tsironi EE, Miller JW, Kim IK, Park KH, Bailey-Wilson JE, Farrer LA, Stambolian D, DeAngelis MM. (2015) Ancestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world. Frontiers in genetics (Jan), 6: 238. doi:10.3389/fgene.2015.00238
- Woo SJ, Ahn J, Morrison MA, Ahn SY, Lee J, Kim KW, DeAngelis MM, Park KH. (2015) Analysis of Genetic and Environmental Risk Factors and Their Interactions in Korean Patients with Age-Related Macular Degeneration. PloS one (Jan), 10(7): e0132771. doi:10.1371/journal.pone.0132771
- Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, Lotery A, Klein BE, Truitt BJ, Li B, Schaumberg DA, Morgan DJ, Morrison MA, Souied E, Tsironi EE, Grassmann F, Fishman GA, Silvestri G, Scholl HP, Kim IK, Ramke J, Tuo J, Merriam JE, Merriam JC, Park KH, Olson LM, Farrer LA, Johnson MP, Peachey NS, Lathrop M, Baron RV, Igo RP, Klein R, Hagstrom SA, Kamatani Y, Martin TM, Jiang Y, Conley Y, Sahel JA, Zack DJ, Chan CC, Pericak-Vance MA, Jacobson SG, Gorin MB, Klein ML, Allikmets R, Iyengar SK, Weber BH, Haines JL, Léveillard T, Deangelis MM, Stambolian D, Weeks DE, Bhattacharya SS, Chew EY, Heckenlively JR, Abecasis GR, Swaroop A. (2014) Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. Human molecular genetics (Nov), 23(21): 5827-37. doi:10.1093/hmg/ddu276
- Morgan DJ, DeAngelis MM. (2014) Differential Gene Expression in Age-Related Macular Degeneration. Cold Spring Harbor perspectives in medicine (Oct), 5(8): a017210. doi:10.1101/cshperspect.a017210
- Hartnett ME, Morrison MA, Smith S, Yanovitch TL, Young TL, Colaizy T, Momany A, Dagle J, Carlo WA, Clark EA, Page G, Murray J, DeAngelis MM, Cotten CM, . (2014) Genetic variants associated with severe retinopathy of prematurity in extremely low birth weight infants. Investigative ophthalmology & visual science (Aug), 55(10): 6194-203. doi:10.1167/iovs.14-14841
- Logue MW, Schu M, Vardarajan BN, Farrell J, Lunetta KL, Jun G, Baldwin CT, Deangelis MM, Farrer LA. (2014) Search for age-related macular degeneration risk variants in Alzheimer disease genes and pathways. Neurobiology of aging (Jun), 35(6): 1510.e7-18. doi:10.1016/j.neurobiolaging.2013.12.007
- Owen LA, Morrison MA, Ahn J, Woo SJ, Sato H, Robinson R, Morgan DJ, Zacharaki F, Simeonova M, Uehara H, Chakravarthy U, Hogg RE, Ambati BK, Kotoula M, Baehr W, Haider NB, Silvestri G, Miller JW, Tsironi EE, Farrer LA, Kim IK, Park KH, DeAngelis MM. (2014) FLT1 genetic variation predisposes to neovascular AMD in ethnically diverse populations and alters systemic FLT1 expression. Investigative ophthalmology & visual science (May), 55(6): 3543-54. doi:10.1167/iovs.14-14047
- Cruz NM, Yuan Y, Leehy BD, Baid R, Kompella U, DeAngelis MM, Escher P, Haider NB. (2014) Modifier genes as therapeutics: the nuclear hormone receptor Rev Erb alpha (Nr1d1) rescues Nr2e3 associated retinal disease. PloS one (Jan), 9(1): e87942. doi:10.1371/journal.pone.0087942
- Zacharaki F, Hadjigeorgiou GM, Koliakos GG, Morrison MA, Tsezou A, Chatzoulis DZ, Almpanidou P, Topouridou K, Karabatsas CH, Pefkianaki M, DeAngelis MM, Tsironi EE. (2014) Plasma homocysteine and genetic variants of homocysteine metabolism enzymes in patients from central Greece with primary open-angle glaucoma and pseudoexfoliation glaucoma. Clinical ophthalmology (Auckland, N.Z.) (Jan), 8: 1819-25. doi:10.2147/OPTH.S64904
- Schaumberg DA, Rose L, DeAngelis MM, Semba RD, Hageman GS, Chasman DI. (2014) Prospective study of common variants in CX3CR1 and risk of macular degeneration: pooled analysis from 5 long-term studies. JAMA ophthalmology (Jan), 132(1): 84-95. doi:10.1001/jamaophthalmol.2013.5506
- Zhan X, Larson DE, Wang C, Koboldt DC, Sergeev YV, Fulton RS, Fulton LL, Fronick CC, Branham KE, Bragg-Gresham J, Jun G, Hu Y, Kang HM, Liu D, Othman M, Brooks M, Ratnapriya R, Boleda A, Grassmann F, von Strachwitz C, Olson LM, Buitendijk GH, Hofman A, van Duijn CM, Cipriani V, Moore AT, Shahid H, Jiang Y, Conley YP, Morgan DJ, Kim IK, Johnson MP, Cantsilieris S, Richardson AJ, Guymer RH, Luo H, Ouyang H, Licht C, Pluthero FG, Zhang MM, Zhang K, Baird PN, Blangero J, Klein ML, Farrer LA, DeAngelis MM, Weeks DE, Gorin MB, Yates JR, Klaver CC, Pericak-Vance MA, Haines JL, Weber BH, Wilson RK, Heckenlively JR, Chew EY, Stambolian D, Mardis ER, Swaroop A, Abecasis GR. (2013) Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nature genetics (Nov), 45(11): 1375-9. doi:10.1038/ng.2758
- Ahmed F, Kamae KK, Jones DJ, Deangelis MM, Hageman GS, Gregory MC, Bernstein PS. (2013) Temporal macular thinning associated with X-linked Alport syndrome. JAMA ophthalmology (Jun), 131(6): 777-82. doi:10.1001/jamaophthalmol.2013.1452
- Jacobo SM, Deangelis MM, Kim IK, Kazlauskas A. (2013) Age-related macular degeneration-associated silent polymorphisms in HtrA1 impair its ability to antagonize insulin-like growth factor 1. Molecular and cellular biology (May), 33(10): 1976-90. doi:10.1128/MCB.01283-12
- Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP, Buitendijk GH, Sim X, Weeks DE, Guymer RH, Merriam JE, Francis PJ, Hannum G, Agarwal A, Armbrecht AM, Audo I, Aung T, Barile GR, Benchaboune M, Bird AC, Bishop PN, Branham KE, Brooks M, Brucker AJ, Cade WH, Cain MS, Campochiaro PA, Chan CC, Cheng CY, Chew EY, Chin KA, Chowers I, Clayton DG, Cojocaru R, Conley YP, Cornes BK, Daly MJ, Dhillon B, Edwards AO, Evangelou E, Fagerness J, Ferreyra HA, Friedman JS, Geirsdottir A, George RJ, Gieger C, Gupta N, Hagstrom SA, Harding SP, Haritoglou C, Heckenlively JR, Holz FG, Hughes G, Ioannidis JP, Ishibashi T, Joseph P, Jun G, Kamatani Y, Katsanis N, N Keilhauer C, Khan JC, Kim IK, Kiyohara Y, Klein BE, Klein R, Kovach JL, Kozak I, Lee CJ, Lee KE, Lichtner P, Lotery AJ, Meitinger T, Mitchell P, Mohand-Saïd S, Moore AT, Morgan DJ, Morrison MA, Myers CE, Naj AC, Nakamura Y, Okada Y, Orlin A, Ortube MC, Othman MI, Pappas C, Park KH, Pauer GJ, Peachey NS, Poch O, Priya RR, Reynolds R, Richardson AJ, Ripp R, Rudolph G, Ryu E, Sahel JA, Schaumberg DA, Scholl HP, Schwartz SG, Scott WK, Shahid H, Sigurdsson H, Silvestri G, Sivakumaran TA, Smith RT, Sobrin L, Souied EH, Stambolian DE, Stefansson H, Sturgill-Short GM, Takahashi A, Tosakulwong N, Truitt BJ, Tsironi EE, Uitterlinden AG, van Duijn CM, Vijaya L, Vingerling JR, Vithana EN, Webster AR, Wichmann HE, Winkler TW, Wong TY, Wright AF, Zelenika D, Zhang M, Zhao L, Zhang K, Klein ML, Hageman GS, Lathrop GM, Stefansson K, Allikmets R, Baird PN, Gorin MB, Wang JJ, Klaver CC, Seddon JM, Pericak-Vance MA, Iyengar SK, Yates JR, Swaroop A, Weber BH, Kubo M, Deangelis MM, Léveillard T, Thorsteinsdottir U, Haines JL, Farrer LA, Heid IM, Abecasis GR, . (2013) Seven new loci associated with age-related macular degeneration. Nature genetics (Apr), 45(4): 433-9, 439e1-2. doi:10.1038/ng.2578
- Daniels AB, Lee JE, MacConaill LE, Palescandolo E, Van Hummelen P, Adams SM, DeAngelis MM, Hahn WC, Gragoudas ES, Harbour JW, Garraway LA, Kim IK. (2012) High throughput mass spectrometry-based mutation profiling of primary uveal melanoma. Investigative ophthalmology & visual science (Oct), 53(11): 6991-6. doi:10.1167/iovs.12-10427
- Tantravahi SK, Williams LB, Digre KB, Creel DJ, Smock KJ, DeAngelis MM, Clayton FC, Vitale AT, Rodgers GM. (2012) An inherited disorder with splenomegaly, cytopenias, and vision loss. American journal of medical genetics. Part A (Mar), 158A(3): 475-81. doi:10.1002/ajmg.a.34437
- Njauw CN, Kim I, Piris A, Gabree M, Taylor M, Lane AM, DeAngelis MM, Gragoudas E, Duncan LM, Tsao H. (2012) Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. PloS one (Jan), 7(4): e35295. doi:10.1371/journal.pone.0035295
- Jakobiec FA, Zakka FR, D'Amato R, Deangelis MM, Walton DS, Rao RC. (2011) Unilateral sporadic retinal dysplasia: results of histopathologic, immunohistochemical, chromosomal, genetic, and VEGF-A analyses. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus (Dec), 15(6): 579-86. doi:10.1016/j.jaapos.2011.08.009
- Morrison MA, Silveira AC, Huynh N, Jun G, Smith SE, Zacharaki F, Sato H, Loomis S, Andreoli MT, Adams SM, Radeke MJ, Jelcick AS, Yuan Y, Tsiloulis AN, Chatzoulis DZ, Silvestri G, Kotoula MG, Tsironi EE, Hollis BW, Chen R, Haider NB, Miller JW, Farrer LA, Hageman GS, Kim IK, Schaumberg DA, DeAngelis MM. (2011) Systems biology-based analysis implicates a novel role for vitamin D metabolism in the pathogenesis of age-related macular degeneration. Human genomics (Oct), 5(6): 538-68. doi:10.1186/1479-7364-5-6-538
- Hageman GS, Gehrs K, Lejnine S, Bansal AT, Deangelis MM, Guymer RH, Baird PN, Allikmets R, Deciu C, Oeth P, Perlee LT. (2011) Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration. Human genomics (Jul), 5(5): 420-40. doi:10.1186/1479-7364-5-5-420
- Feehan M, Hartman J, Durante R, Morrison MA, Miller JW, Kim IK, DeAngelis MM. (2011) Identifying subtypes of patients with neovascular age-related macular degeneration by genotypic and cardiovascular risk characteristics. BMC medical genetics (Jun), 12: 83. doi:10.1186/1471-2350-12-83
- Deangelis MM, Silveira AC, Carr EA, Kim IK. (2011) Genetics of age-related macular degeneration: current concepts, future directions. Seminars in ophthalmology (May), 26(3): 77-93. doi:10.3109/08820538.2011.577129
- Jelcick AS, Yuan Y, Leehy BD, Cox LC, Silveira AC, Qiu F, Schenk S, Sachs AJ, Morrison MA, Nystuen AM, DeAngelis MM, Haider NB. (2011) Genetic variations strongly influence phenotypic outcome in the mouse retina. PloS one (Jan), 6(7): e21858. doi:10.1371/journal.pone.0021858
- Jun G, Nicolaou M, Morrison MA, Buros J, Morgan DJ, Radeke MJ, Yonekawa Y, Tsironi EE, Kotoula MG, Zacharaki F, Mollema N, Yuan Y, Miller JW, Haider NB, Hageman GS, Kim IK, Schaumberg DA, Farrer LA, DeAngelis MM. (2011) Influence of ROBO1 and RORA on risk of age-related macular degeneration reveals genetically distinct phenotypes in disease pathophysiology. PloS one (Jan), 6(10): e25775. doi:10.1371/journal.pone.0025775
- Chan RV, Yonekawa Y, Morrison MA, Sun G, Wong RK, Perlman JM, Chiang MF, Lee TC, Hartnett ME, Deangelis MM. (2010) Association between assisted reproductive technology and advanced retinopathy of prematurity. Clinical ophthalmology (Auckland, N.Z.) (Nov), 4: 1385-90. doi:10.2147/OPTH.S15587
- Schaumberg DA, Chasman D, Morrison MA, Adams SM, Guo Q, Hunter DJ, Hankinson SE, DeAngelis MM. (2010) Prospective study of common variants in the retinoic acid receptor-related orphan receptor a gene and risk of neovascular age-related macular degeneration. Archives of ophthalmology (Chicago, Ill. : 1960) (Nov), 128(11): 1462-71. doi:10.1001/archophthalmol.2010.261
- Chen W, Stambolian D, Edwards AO, Branham KE, Othman M, Jakobsdottir J, Tosakulwong N, Pericak-Vance MA, Campochiaro PA, Klein ML, Tan PL, Conley YP, Kanda A, Kopplin L, Li Y, Augustaitis KJ, Karoukis AJ, Scott WK, Agarwal A, Kovach JL, Schwartz SG, Postel EA, Brooks M, Baratz KH, Brown WL, , Brucker AJ, Orlin A, Brown G, Ho A, Regillo C, Donoso L, Tian L, Kaderli B, Hadley D, Hagstrom SA, Peachey NS, Klein R, Klein BE, Gotoh N, Yamashiro K, Ferris Iii F, Fagerness JA, Reynolds R, Farrer LA, Kim IK, Miller JW, Cortón M, Carracedo A, Sanchez-Salorio M, Pugh EW, Doheny KF, Brion M, Deangelis MM, Weeks DE, Zack DJ, Chew EY, Heckenlively JR, Yoshimura N, Iyengar SK, Francis PJ, Katsanis N, Seddon JM, Haines JL, Gorin MB, Abecasis GR, Swaroop A. (2010) Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proceedings of the National Academy of Sciences of the United States of America (Apr), 107(16): 7401-6. doi:10.1073/pnas.0912702107
- Silveira AC, Morrison MA, Ji F, Xu H, Reinecke JB, Adams SM, Arneberg TM, Janssian M, Lee JE, Yuan Y, Schaumberg DA, Kotoula MG, Tsironi EE, Tsiloulis AN, Chatzoulis DZ, Miller JW, Kim IK, Hageman GS, Farrer LA, Haider NB, DeAngelis MM. (2010) Convergence of linkage, gene expression and association data demonstrates the influence of the RAR-related orphan receptor alpha (RORA) gene on neovascular AMD: a systems biology based approach. Vision research (Mar), 50(7): 698-715. doi:10.1016/j.visres.2009.09.016
- Andreoli MT, Morrison MA, Kim BJ, Chen L, Adams SM, Miller JW, DeAngelis MM, Kim IK. (2009) Comprehensive analysis of complement factor H and LOC387715/ARMS2/HTRA1 variants with respect to phenotype in advanced age-related macular degeneration. American journal of ophthalmology (Dec), 148(6): 869-74. doi:10.1016/j.ajo.2009.07.002
- Yan T, Yang YN, Cheng X, DeAngelis MM, Hoh J, Zhang H. (2009) Genotypic association analysis using discordant-relative-pairs. Annals of human genetics (Jan), 73(1): 84-94.
- Kim IK, Ji F, Morrison MA, Adams S, Zhang Q, Lane AM, Capone A, Dryja TP, Ott J, Miller JW, DeAngelis MM. (2008) Comprehensive analysis of CRP, CFH Y402H and environmental risk factors on risk of neovascular age-related macular degeneration. Molecular vision (Aug), 14: 1487-95.
- Deangelis MM, Ji F, Adams S, Morrison MA, Harring AJ, Sweeney MO, Capone A, Miller JW, Dryja TP, Ott J, Kim IK. (2008) Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. Ophthalmology (Jul), 115(7): 1209-1215.e7. doi:10.1016/j.ophtha.2007.10.032
- Zhang H, Morrison MA, Dewan A, Adams S, Andreoli M, Huynh N, Regan M, Brown A, Miller JW, Kim IK, Hoh J, Deangelis MM. (2008) The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration. BMC medical genetics (Jun), 9: 51. doi:10.1186/1471-2350-9-51
- Yu HG, Liu X, Kiss S, Connolly E, Gragoudas ES, Michaud NA, Bulgakov OV, Adamian M, DeAngelis MM, Miller JW, Li T, Kim IK. (2008) Increased choroidal neovascularization following laser induction in mice lacking lysyl oxidase-like 1. Investigative ophthalmology & visual science (Jun), 49(6): 2599-605. doi:10.1167/iovs.07-1508
- Fan BJ, Pasquale L, Grosskreutz CL, Rhee D, Chen T, DeAngelis MM, Kim I, del Bono E, Miller JW, Li T, Haines JL, Wiggs JL. (2008) DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity. BMC medical genetics (Feb), 9: 5. doi:10.1186/1471-2350-9-5
- DeAngelis MM, Ji F, Kim IK, Adams S, Capone A, Ott J, Miller JW, Dryja TP. (2007) Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration. Archives of ophthalmology (Chicago, Ill. : 1960) (Jan), 125(1): 49-54.
- DeAngelis MM, Lane AM, Shah CP, Ott J, Dryja TP, Miller JW. (2004) Extremely discordant sib-pair study design to determine risk factors for neovascular age-related macular degeneration. Archives of ophthalmology (Chicago, Ill. : 1960) (Apr), 122(4): 575-80.
- Rivolta C, Sharon D, DeAngelis MM, Dryja TP. (2002) Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Human molecular genetics (May), 11(10): 1219-27.
- DeAngelis MM, Grimsby JL, Sandberg MA, Berson EL, Dryja TP. (2002) Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa. Archives of ophthalmology (Chicago, Ill. : 1960) (Mar), 120(3): 369-75.
- DeAngelis MM, McGee TL, Keats BJ, Slim R, Berson EL, Dryja TP. (2001) Two families from New England with usher syndrome type IC with distinct haplotypes. American journal of ophthalmology (Mar), 131(3): 355-8.
- Pelias MZ, DeAngelis MM. (1999) The new genetic technologies: new options, new hope, and new challenges. Loyola law review (Jan), 45(2): 287-306.
- Viñas AM, Drury SS, DeAngelis MM, Den Z, Huang JM, Berlin CI, Hunt JD, Batzer MA, Deininger PL, Keats BJ. (1998) The mouse deafness locus (dn) is associated with an inversion on chromosome 19. Biochimica et biophysica acta (Sep), 1407(3): 257-62.
- Scott DA, Greinwald JH, Marietta JR, Drury S, Swiderski RE, Viñas A, DeAngelis MM, Carmi R, Ramesh A, Kraft ML, Elbedour K, Skworak AB, Friedman RA, Srikumari Srisailapathy CR, Verhoeven K, Van Gamp G, Lovett M, Deininger PL, Batzer MA, Morton CC, Keats BJ, Smith RJ, Sheffield VC. (1998) Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19. Gene (Jul), 215(2): 461-9.
- DeAngelis MM, Doucet JP, Drury S, Sherry ST, Robichaux MB, Den Z, Pelias MZ, Ditta GM, Keats BJ, Deininger PL, Batzer MA. (1998) Assembly of a high-resolution map of the Acadian Usher syndrome region and localization of the nuclear EF-hand acidic gene. Biochimica et biophysica acta (Jul), 1407(1): 84-91.
- Bouyge-Moreau I, Rondeau G, Avet-Loiseau H, André MT, Bézieau S, Chérel M, Saleün S, Cadoret E, Shaikh T, De Angelis MM, Arcot S, Batzer M, Moisan JP, Devilder MC. (1997) Construction of a 780-kb PAC, BAC, and cosmid contig encompassing the minimal critical deletion involved in B cell chronic lymphocytic leukemia at 13q14.3. Genomics (Dec), 46(2): 183-90.
- Arcot SS, DeAngelis MM, Sherry ST, Adamson AW, Lamerdin JE, Deininger PL, Carrano AV, Batzer MA. (1997) Identification and characterization of two polymorphic Ya5 Alu repeats. Mutation research (Sep), 382(1-2): 5-11.
- Dietrich WF, Miller J, Steen R, Merchant MA, Damron-Boles D, Husain Z, Dredge R, Daly MJ, Ingalls KA, O'Connor TJ. (1996) A comprehensive genetic map of the mouse genome. Nature (Mar), 380(6570): 149-52.
- Hudson TJ, Stein LD, Gerety SS, Ma J, Castle AB, Silva J, Slonim DK, Baptista R, Kruglyak L, Xu SH, Hu X, Colbert AM, Rosenberg C, Reeve-Daly MP, Rozen S, Hui L, Wu X, Vestergaard C, Wilson KM, Bae JS, Maitra S, Ganiatsas S, Evans CA, DeAngelis MM, Ingalls KA, Nahf RW, Horton LT, Anderson MO, Collymore AJ, Ye W, Kouyoumjian V, Zemsteva IS, Tam J, Devine R, Courtney DF, Renaud MT, Nguyen H, O'Connor TJ, Fizames C, Fauré S, Gyapay G, Dib C, Morissette J, Orlin JB, Birren BW, Goodman N, Weissenbach J, Hawkins TL, Foote S, Page DC, Lander ES. (1995) An STS-based map of the human genome. Science (New York, N.Y.) (Dec), 270(5244): 1945-54.
- DeAngelis MM, Hayes RL, Lyeth BG. (1994) Traumatic brain injury causes a decrease in M2 muscarinic cholinergic receptor binding in the rat brain. Brain research (Aug), 653(1-2): 39-44.
- Pan Y, Iejima D, Nakayama M, Suga A, Noda T, Kaur I, Das T, Chakrabarti S, Guymer RH, DeAngelis MM, Yamamoto M, Baird PN, Iwata T. (1900) Binding of Gtf2i-ß/d transcription factors to the ARMS2 gene leads to increased circulating HTRA1 in AMD patients and in vitro. The Journal of biological chemistry (Jan), 296: 100456. doi:10.1016/j.jbc.2021.100456
Presentations:
- "Understanding the Genetics of Glaucoma Medication Non-Adherence" Science Spotlight” Department of Ophthalmology Grand Rounds, University of Rochester School of Medicine, Flaum Eye Institute, Rochester, NY (2023)
- "Sole Moderator for the Omics section" 6th Biennial International Symposium on Age Related Macular Degeneration at Harvard Medical School (2023)
- "A Systems Biology Approach Supports a Role for HTRA1 in Age-related Macular Degeneration" Association for Vision and Ophthalmology Special Interest Group: “Exploring the contributions of ARMS2 and HTRA1 genetic risk factors in age-related macular degeneration (2023)
- "Elucidating Disease Mechanisms in Blinding Conditions: The Power of Leveraging Donor Eye Tissue & Diverse Populations" Genentech, Inc., San Francsico, CA. (2023)
- "Neuroscience Research into Blinding Conditions" ; Minority Mentorship Program, University of Rochester School of Medicine, Flaum Eye Institute, Rochester, NY (2023)
- "Overview of My Trajectory and Research in Blinding Conditions" The Collaborative Learning and Integrated Mentoring in the Biosciences (CLIMB) Program, SUNY-University at Buffalo, Jacobs School of Medicine and Biomedical Sciences Buffalo, NY (2023)
- "A Systems Biology Approach Uncovers Novel Genomic Mechanisms in Age-Related Macular Degeneration" Ophthalmology Research Day, Department of Ophthalmology, Ross Eye Institute, Jacobs School of Medicine and Biomedical Sciences-SUNY-University at Buffalo, Buffalo, NY (2023)
- "Ancestry Network for the Human Cell Atlas in the Eye: Community Engagement Plan and Learnings" Chan Zuckerberg Initiative (CZI) (2023)
- "Epigenetics and the Healthy Eye: Development, Aging and Therapeutics" International Society for Eye Research (2023)
- "Epigenetics as a Driver of Ocular Disease: Clinical Advances and Challenges," International Society for Eye Research (2023)
- "Leveraging a Donor Eye Repository to Elucidate the Molecular Mechanisms Underlying Age-related Macular Degeneration, Genome," Genome, Environment and Microbiome Community of Excellence, SUNY-University at Buffalo, Jacobs School of Medicine and Biomedical Sciences-SUNY-University at Buffalo, Buffalo, NY (2022)
- "Increasing Diversity of Participants in Genetic Epidemiologic Research Helps Address Health Inequity" Seminar Series, School of Public Health and Health Professions, SUNY-University at Buffalo (2021)
- "Leveraging allele-specific expression as therapeutic targets for age-related macular degeneration" Biochemistry Seminar Series, SUNY-University of Buffalo Jacobs School of Medicine (2021)
- "Systems biology based approach reveals epigenetic mechanisms in ocular disease" ARVO SYMPOSIA: Epigenomics and personalized Medicine: Across the globe (2021)
- "Informing Ocular Drug development through Genomics" Private Industry invited presentation AbbVie/Allergan, (2021)
- "Multi-omic approaches to identify biomarkers and therapeutic targets for AMD" 10th Annual Meeting of Iranian Research Association for Vision and Ophthalmology, Iranian Society of Ophthalmology (2021)
Service Activities:
- Faculty senate Executive committee Member; member (2024)
- Faculty Judge for Poster Presenters, Neuroscience Research Day, SUNY-University at Buffalo, Jacobs School of Medicine and Biomedical Sciences; Faculty Judge for Poster Presenters, (2023)
- Research and Creative Activities Committee- SUNY-University at Buffalo; member of a committee of 5 (2023–present)
- Steering Committee for Genetics, Genomics & Bioinformatics, SUNY-University at Buffalo, Jacobs School of Medicine and Biomedical Sciences; Member, Steering Committee for Genetics, Genomics & Bioinformatics, SUNY-University at Buffalo, Jacobs School of Medicine and Biomedical Sciences (2023–present)
- Faculty Council Standing Committee: Election and Bylaws; Member, Faculty Council Standing Committee: Election and Bylaws (2023–present)
- Faculty Senate; member (2023–present)
- Promotions and Tenure; member (2023–2025)
- Medical School Appeals Committee, SUNY-University at Buffalo, Jacobs School of Medicine and Biomedical Sciences; Ad-hoc committee member as needed (2023–present)
- KL2, Steering Committee, University at Buffalo, Clinical and Translational Science Institute Award (sponsored by the NIH to train junior faculty towards independence as clinical translational researchers); Member, KL2, Steering Committee, (2023–present)
- Member, Ethics and Regulations in Human Research Committee, Association for Research in Vision and Ophthalmology; member (2023–2026)
- Joseph Robert Love Scholastic Leadership Awards (recognizes inspirational leadership by an individual or a group of medical students for groundbreaking service and dedication to advancing the Jacobs School’s commitment to inclusion, diversity, equity and social justice — leading to a culturally competent learning environment across disciplines. SUNY-University at Buffalo, Jacobs School of Medicine and Biomedical Sciences; Member, Selection Committee and task force, Joseph Robert Love Scholastic Leadership Awards (2023–present)
- Faculty Facilitator, 1st Annual JSMBS Community Research Day (poster presentations from Undergraduate, Graduate, and Medical Students, Postdoctoral Scholars, Residents, Fellows, and Faculty.; Faculty Facilitator (2023)
- Faculty Preceptor for Junior Clinical Faculty (Assistant Professor) for the Jacobs Educator Excellence Program, SUNY-University at Buffalo, Jacobs School of Medicine and Biomedical Sciences; Faculty Preceptor (2023)
- Faculty Search Committee, Assistant Professor, Tenure Track, Research, Department of Ophthalmology, Jacobs School of Medicine and Biomedical Sciences, SUNY University at Buffalo, Buffalo, NY; Member, Faculty Search Committee (2023)
- Office of the Vice Provost for Faculty Affairs: Civic/Community Engaged Research Initiatives at University at Buffalo; member (2023–present)
- Residency Candidate Interview Committee, Department of Ophthalmology, Jacobs School of Medicine and Biomedical Sciences, SUNY-University at Buffalo, Buffalo, NY; Interviewer (2022)
- Residency Candidate Interview Committee, Department of Ophthalmology, Jacobs School of Medicine and Biomedical Sciences, SUNY-University at Buffalo, Buffalo, NY; interviewer (2022)
- Faculty Judge for Poster Presenters, Neuroscience Research Day, SUNY-University at Buffalo, Jacobs School of Medicine and Biomedical Sciences; Faculty Judge for Poster Presenters (2022)
- CLIMB-PRO/CLIMB-UP Program (undergraduate aspiring for MD, PhD, and/or MD/PhD program), SUNY-University at Buffalo, Jacobs School of Medicine and Biomedical Sciences; MENTOR (2022–present)
- Member, Ad-Hoc Diversity, Inclusion, and Learning Environment – Bias Advisory Team (DIALE-BAT) Revisions Committee; Member, Ad-Hoc Diversity, Inclusion, and Learning Environment – Bias Advisory Team (DIALE-BAT) Revisions Committee (2022)
- Primary representative for Program in Neuroscience Admissions Committee, PhD Program in Biomedical Sciences; Primary representative for the Neuroscience Program to screen applications and interview applicants for admission into PBBS (2022–present)
- Faculty Council Standing Committee, Medical Curriculum Revision Committee, SUNY-University of Buffalo; Member (2021–2024)
- UUP-AMPC, Health Science Centers Concerns Subcommittee Meeting; member (2021–present)
- Journal of Translational Genetics and Genomics, Alhambra, CA; member of editorial board (2021–present)
- Nature Biology Communications; reviewer (2021–present)
- Reviewer for 15 Department of Defense study sections; reviewer (only including service since 2021) (2021–present)
- Nature Communications; reviewer for 3 papers, only including for the year 2021 (2021–present)
- Residency candidate interviews for the Department of Ophthalmology; interviewer (2020)
- attend all meetings for the SEC and faculty council take minute meetings for approval at the following meeting; Secretary for the faculty council steering committee (2020–2022)
- PRODiG faculty member and mentor (Promoting Recruitment, Opportunity, Diversity and Inclusion and Growth Initiative) SUNY system; member (2020–present)
- Journal of Clinical Medicine, Basel, Switzerland Switzerland; Section Editor in Chief, Ophthalmology (2020–present)
- Exploration of Medicine, New York, NY; Section editor head for Ophthalmology & Otolaryngology (2019–present)
- The Global Eye Genetics Consortium; Member Scientific Oversight Committee (2019–present)
- This committee is designed to provided support and career mentorship to other women particularly trainees and junior faculty in vision reserach; Member, WEAVR Leadership Committee, ARVO (2019–present)
- Frontiers in Molecular Neuroscience, Lausanne, Switzerland; Associate Editor (2018–present)
- Mentor women throughout the year trainees and junior faculty over zoom and in person during the ARVO meeting; Mentor, Drop-in Mentoring Sessions, Women and Eye and Vision Research (WEAVR) Association for Vision in Research and Ophthalmology (2018–present)
- Annals of Eye Science, Singapore; member of the editorial board (2018–present)
- Journal of Ophthalmology and Optometry, Auckland, New Zealand; member of editorial board (2016–present)
- Reviewing for this private foundations grant applications and review of progress reports of continued funding. The funding agency supports work on age-related macular degeneration; Review Board panel and review of progress reports on off years. Submission of grants is every other year (2014–present)
- BMC Medical Genomics, London, United Kingdom; member editorial board (2013–present)
- PLoS One, San Francisco, CA; member of the editorial board (2012–present)
- International Consortium for Refractive Error and Myopia (CREAM; sponsored by the NEI/NIH), Bethesda, MD; Executive Committee Member (2012–present)
- An internationally elected position Organize, Plan experiments and collaboration for the International Genomics Age-related Macular Degeneration Gene Consortium (sponsored by the NEI/NIH), Bethesda, MD; Senior Executive Committee/Steering Committee Member (2011–present)
- Australia Macular Degeneration Foundation Research Peer Review Panel, Sydney, Australia; member (2010–present)
- NIH; Peer reviewer as ad hoc member for several study sections . Have at times served as chair or co-chair (2010–present)