Eric A. Pierce,
MD, PhD
Massachusetts Eye and Ear
Director, Berman-Gund Laboratory for the Study of Retinal Degenerations
Senior Scientist
Harvard Medical School
Director, Ocular Genomics Institute
eric_pierce@meei.harvard.edu
For investigator inquiries only
About My Research
Center/Research Area Affiliations
Biography
Dr. Pierce, the William F. Chatlos Professor of Ophthalmology, is an ophthalmologist and molecular geneticist whose research program is dedicated to understanding the molecular mechanisms of Inherited retinal degenerations (IRDs) and improving therapeutic interventions for these conditions. IRDs are a leading cause of blindness worldwide, and are characterized by progressive dysfunctionand death of retinal photoreceptor cells. Dr. Pierce's research program is focused on identifying new IRD disease genes, investigating the mechanism by which mutations in the identified genes lead to blindness, and using this information about disease pathogenesis to develop gene and genetic therapies to prevent vision loss.
Education
1981: AB, magna cum laude, High Distinction, Biochemistry, Dartmouth College
1986: PhD, Biochemistry, University of Wisconsin-Madison
1990: MD, Harvard Medical School and Massachusetts Institute of Technology, Health Sciences and Technology Division
Postgraduate Training
1991: Internship, Medicine, Massachusetts General Hospital
1994: Residency, Ophthalmology, Harvard Medical School
1995: Research Fellowship, Ophthalmology, Boston Children’s Hospital
1996: Clinical Fellowship, Ophthalmology, Boston Children’s Hospital
Academic Appointments
2017-present: William F. Chatlos Professor of Ophthalmology, Harvard Medical School
2017: Solman and Libe Friedman Professor of Ophthalmology, Harvard Medical School
2013-2017: Solman and Libe Friedman Associate Professor of Ophthalmology, Harvard Medical School
2012-2013: Associate Professor of Ophthalmology, Harvard Medical School
2011-2012: Lecturer on Ophthalmology, Harvard Medical School
2007-2011: Associate Professor of Ophthalmology with Tenure, University of Pennsylvania School of Medicine
1999-2007: Assistant Professor of Ophthalmology, University of Pennsylvania School of Medicine
1998-1999: Assistant Professor of Ophthalmology, Harvard Medical School
1996-1998: Instructor in Ophthalmology, Harvard Medical School
Publications powered by Harvard Catalyst Profiles
- Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. Am J Hum Genet. 2024 Mar 27.
- Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration. Res Sq. 2024 Feb 09.
- Generation of a human induced pluripotent stem cell line (OGIi001) from peripheral blood mononuclear cells of a healthy male donor. Stem Cell Res. 2024 02; 74:103280.
- Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. medRxiv. 2023 Oct 05.
- Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv. 2023 Aug 13.
- Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker. JCI Insight. 2023 08 08; 8(15).
- Structure-based network analysis predicts mutations associated with inherited retinal disease. medRxiv. 2023 Jul 06.
- Expression of NMNAT1 in the photoreceptors is sufficient to prevent NMNAT1-associated retinal degeneration. Mol Ther Methods Clin Dev. 2023 Jun 08; 29:319-328.
- Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration. Hum Mol Genet. 2023 01 06; 32(2):204-217.
- Extracellular Vesicle RNA Contents as Biomarkers for Ocular Diseases. Adv Exp Med Biol. 2023; 1415:81-86.
- Role of Nuclear NAD+ in Retinal Homeostasis. Adv Exp Med Biol. 2023; 1415:235-239.
- Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration. Cold Spring Harb Mol Case Stud. 2022 12; 8(7).
- Adeno-Associated Virus Serotype 2-hCHM Subretinal Delivery to the Macula in Choroideremia: Two-Year Interim Results of an Ongoing Phase I/II Gene Therapy Trial. Ophthalmology. 2022 10; 129(10):1177-1191.
- Reduced nuclear NAD+ drives DNA damage and subsequent immune activation in the retina. Hum Mol Genet. 2022 05 04; 31(9):1370-1388.
- A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes. Cold Spring Harb Mol Case Stud. 2022 02; 8(2).
- Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy. Ophthalmic Genet. 2022 06; 43(3):332-339.
- The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK). Genet Med. 2022 02; 24(2):332-343.
- Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa. Genes (Basel). 2021 11 23; 12(12).
- Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD. NPJ Genom Med. 2021 Jun 29; 6(1):53.
- Mutant Nmnat1 leads to a retina-specific decrease of NAD+ accompanied by increased poly(ADP-ribose) in a mouse model of NMNAT1-associated retinal degeneration. Hum Mol Genet. 2021 05 17; 30(8):644-657.
- Complement C5 is not critical for the formation of sub-RPE deposits in Efemp1 mutant mice. Sci Rep. 2021 05 17; 11(1):10416.
- Gene editing technology: Towards precision medicine in inherited retinal diseases. Semin Ophthalmol. 2021 May 19; 36(4):176-184.
- WDR34, a candidate gene for non-syndromic rod-cone dystrophy. Clin Genet. 2021 02; 99(2):298-302.
- Gene Therapy Preserves Retinal Structure and Function in a Mouse Model of NMNAT1-Associated Retinal Degeneration. Mol Ther Methods Clin Dev. 2020 Sep 11; 18:582-594.
- Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum. Mol Vis. 2020; 26:423-433.
- Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium. Transl Vis Sci Technol. 2020 06; 9(7):2.
- Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy. Am J Hum Genet. 2020 06 04; 106(6):893-904.
- A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families. Hum Mol Genet. 2020 04 15; 29(6):967-979.
- Investigating cone photoreceptor development using patient-derived NRL null retinal organoids. Commun Biol. 2020 02 21; 3(1):82.
- Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations. Genet Med. 2020 06; 22(6):1079-1087.
- Expanding the phenotypic spectrum in RDH12-associated retinal disease. Cold Spring Harb Mol Case Stud. 2020 02; 6(1).
- RNA Splicing Factor Mutations That Cause Retinitis Pigmentosa Result in Circadian Dysregulation. J Biol Rhythms. 2020 02; 35(1):72-83.
- AAV-Mediated Gene Augmentation Therapy Restores Critical Functions in Mutant PRPF31+/- iPSC-Derived RPE Cells. Mol Ther Methods Clin Dev. 2019 Dec 13; 15:392-402.
- Characterizing variants of unknown significance in rhodopsin: A functional genomics approach. Hum Mutat. 2019 08; 40(8):1127-1144.
- De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet. 2019 07; 27(7):1081-1089.
- In Vivo Assessment of Potential Therapeutic Approaches for USH2A-Associated Diseases. Adv Exp Med Biol. 2019; 1185:91-96.
- Parthanatos as a Cell Death Pathway Underlying Retinal Disease. Adv Exp Med Biol. 2019; 1185:323-327.
- Detection of Large Structural Variants Causing Inherited Retinal Diseases. Adv Exp Med Biol. 2019; 1185:197-202.
- Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa. Nat Commun. 2018 10 12; 9(1):4234.
- USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Hum Mol Genet. 2018 10 01; 27(19):3305-3312.
- Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene. Invest Ophthalmol Vis Sci. 2018 10 01; 59(12):4812-4820.
- The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene. Am J Ophthalmol. 2019 03; 199:58-70.
- Genome Editing for Inherited Retinal Degenerations. Ophthalmology. 2018 09; 125(9):1431-1432.
- Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration. Genet Med. 2019 03; 21(3):694-704.
- Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps. Transl Vis Sci Technol. 2018 Jul; 7(4):6.
- C3a triggers formation of sub-retinal pigment epithelium deposits via the ubiquitin proteasome pathway. Sci Rep. 2018 06 26; 8(1):9679.
- Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects. Hum Mol Genet. 2018 06 01; 27(11):2012-2024.
- Allele-Specific CRISPR-Cas9 Genome Editing of the Single-Base P23H Mutation for Rhodopsin-Associated Dominant Retinitis Pigmentosa. CRISPR J. 2018 02; 1:55-64.
- Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway. Hum Mol Genet. 2018 01 01; 27(1):147-159.
- The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA. Mol Vis. 2017; 23:695-706.
- The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa. Genes (Basel). 2017 Oct 05; 8(10).
- Photoreceptor Cilia and Retinal Ciliopathies. Cold Spring Harb Perspect Biol. 2017 Oct 03; 9(10).
- De novo assembly and annotation of the retinal transcriptome for the Nile grass rat (Arvicanthis ansorgei). PLoS One. 2017; 12(7):e0179061.
- Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations. Genet Med. 2017 06; 19(6):643-651.
- Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1. Invest Ophthalmol Vis Sci. 2016 09 01; 57(11):4806-13.
- Paradigm Shifts in Ophthalmic Diagnostics. Trans Am Ophthalmol Soc. 2016 Aug; 114:WP1.
- Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial. Lancet. 2016 Aug 13; 388(10045):661-72.
- Serum molecular signature for proliferative diabetic retinopathy in Saudi patients with type 2 diabetes. Mol Vis. 2016; 22:636-45.
- Isolation, culture and characterization of primary mouse RPE cells. Nat Protoc. 2016 07; 11(7):1206-18.
- Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease. Am J Pathol. 2016 07; 186(7):1925-1938.
- A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression. RNA Biol. 2016 05 03; 13(5):477-85.
- Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy. Am J Hum Genet. 2016 Mar 03; 98(3):592.
- Extracellular Matrix Alterations and Deposit Formation in AMD. Adv Exp Med Biol. 2016; 854:53-8.
- Course of Ocular Function in PRPF31 Retinitis Pigmentosa. Semin Ophthalmol. 2016; 31(1-2):49-52.
- A local complement response by RPE causes early-stage macular degeneration. Hum Mol Genet. 2015 Oct 01; 24(19):5555-69.
- RNA-Seq: Improving Our Understanding of Retinal Biology and Disease. Cold Spring Harb Perspect Med. 2015 Feb 26; 5(9):a017152.
- The Status of RPE65 Gene Therapy Trials: Safety and Efficacy. Cold Spring Harb Perspect Med. 2015 Jan 29; 5(9):a017285.
- Targeted exon sequencing in Usher syndrome type I. Invest Ophthalmol Vis Sci. 2014 Dec 02; 55(12):8488-96.
- Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. Genet Med. 2015 Apr; 17(4):253-261.
- Systemic diseases associated with retinal dystrophies. Semin Ophthalmol. 2014 Sep-Nov; 29(5-6):319-28.
- Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum Mol Genet. 2015 Jan 01; 24(1):230-42.
- Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium. Am J Pathol. 2014 Oct; 184(10):2641-52.
- A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration. Am J Pathol. 2014 Oct; 184(10):2721-9.
- Exome-based mapping and variant prioritization for inherited Mendelian disorders. Am J Hum Genet. 2014 Mar 06; 94(3):373-84.
- Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP). Adv Exp Med Biol. 2014; 801:123-9.
- Genetic testing for inherited eye disease: who benefits? JAMA Ophthalmol. 2013 Oct; 131(10):1265-6.
- CRB1: one gene, many phenotypes. Semin Ophthalmol. 2013 Sep-Nov; 28(5-6):397-405.
- Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet. 2013 Sep 05; 93(3):482-95.
- Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration. Hum Mol Genet. 2014 Jan 01; 23(1):52-68.
- Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genes. BMC Genomics. 2013 Jul 18; 14:486.
- Seeing the light. Sci Transl Med. 2013 Mar 06; 5(175):175fs8.
- Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2. Ophthalmology. 2013 Jun; 120(6):1283-91.
- Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome. Discov Med. 2012 Dec; 14(79):389-99.
- Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype. PLoS One. 2012; 7(8):e43251.
- NMNAT1 mutations cause Leber congenital amaurosis. Nat Genet. 2012 Sep; 44(9):1040-5.
- Knockdown of ttc26 disrupts ciliogenesis of the photoreceptor cells and the pronephros in zebrafish. Mol Biol Cell. 2012 Aug; 23(16):3069-78.
- AAV2 gene therapy readministration in three adults with congenital blindness. Sci Transl Med. 2012 Feb 08; 4(120):120ra15.
- Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts. Discov Med. 2012 Feb; 13(69):143-50.
- Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum Mutat. 2012 Mar; 33(3):457-66.
- Transcriptome analyses to investigate the pathogenesis of RNA splicing factor retinitis pigmentosa. Adv Exp Med Biol. 2012; 723:519-25.
- Comparative analysis of RNA-Seq alignment algorithms and the RNA-Seq unified mapper (RUM). Bioinformatics. 2011 Sep 15; 27(18):2518-28.
- Generation of Cre transgenic mice with postnatal RPE-specific ocular expression. Invest Ophthalmol Vis Sci. 2011 Mar; 52(3):1378-83.
- Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing. Invest Ophthalmol Vis Sci. 2011 Jan 25; 52(1):494-503.
- TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 Mar; 43(3):189-96.
- Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP. PLoS One. 2011 Jan 19; 6(1):e15860.
- Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration. Invest Ophthalmol Vis Sci. 2011 Jan; 52(1):190-8.
- Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet. 2010 Oct; 42(10):840-50.
- Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1. J Neurosci. 2010 Jun 30; 30(26):8759-68.
- Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes. Hum Mutat. 2010 May; 31(5):E1361-76.
- Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. Am J Hum Genet. 2010 02 12; 86(2):248-53.
- Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa. Adv Exp Med Biol. 2010; 664:325-31.
- Photoreceptor sensory cilia and inherited retinal degeneration. Adv Exp Med Biol. 2010; 664:223-32.
- Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration. Mol Ther. 2010 Mar; 18(3):643-50.
- Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet. 2009 Nov 07; 374(9701):1597-605.
- Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. Am J Hum Genet. 2009 May; 84(5):683-91.
- The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background. Invest Ophthalmol Vis Sci. 2009 Apr; 50(4):1566-74.
- Decreased levels of the RNA splicing factor Prpf3 in mice and zebrafish do not cause photoreceptor degeneration. Invest Ophthalmol Vis Sci. 2008 Sep; 49(9):3830-8.
- Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med. 2008 May 22; 358(21):2240-8.
- Site-specific gene modification by oligodeoxynucleotides in mouse bone marrow-derived mesenchymal stem cells. Gene Ther. 2008 Jul; 15(14):1035-48.
- Characterization of retinal inosine monophosphate dehydrogenase 1 in several mammalian species. Mol Vis. 2007 Oct 03; 13:1866-72.
- The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. Hum Mol Genet. 2007 Oct 15; 16(20):2411-22.
- The proteome of the mouse photoreceptor sensory cilium complex. Mol Cell Proteomics. 2007 Aug; 6(8):1299-317.
- Analysis of kinesin-2 function in photoreceptor cells using synchronous Cre-loxP knockout of Kif3a with RHO-Cre. Invest Ophthalmol Vis Sci. 2006 Nov; 47(11):5039-46.
- Delivery and mechanistic considerations for the production of knock-in mice by single-stranded oligonucleotide gene targeting. Gene Ther. 2007 Feb; 14(4):304-15.
- Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration? Invest Ophthalmol Vis Sci. 2006 Sep; 47(9):3754-65.
- Expression and activation of STAT3 in ischemia-induced retinopathy. Invest Ophthalmol Vis Sci. 2005 Dec; 46(12):4409-16.
- The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein. J Neurosci. 2004 Jul 21; 24(29):6427-36.
- Quantification of the cytoplasmic spaces of living cells with EGFP reveals arrestin-EGFP to be in disequilibrium in dark adapted rod photoreceptors. J Cell Sci. 2004 Jun 15; 117(Pt 14):3049-59.
- Mouse embryonic stem cells efficiently lipofected with nuclear localization peptide result in a high yield of chimeric mice and retain germline transmission potency. Methods. 2004 Jun; 33(2):113-20.
- RP1 is required for the correct stacking of outer segment discs. Invest Ophthalmol Vis Sci. 2003 Oct; 44(10):4171-83.
- Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. Mol Vis. 2003 Apr 24; 9:129-37.
- Retinopathy of prematurity: molecular pathology and therapeutic strategies. Am J Pharmacogenomics. 2003; 3(4):261-77.
- Oligonucleotide-directed single-base DNA alterations in mouse embryonic stem cells. Gene Ther. 2003 Jan; 10(1):24-33.
- Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. Proc Natl Acad Sci U S A. 2002 Apr 16; 99(8):5698-703.
- Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. Invest Ophthalmol Vis Sci. 2002 Jan; 43(1):22-32.
- Specific double-stranded RNA interference in undifferentiated mouse embryonic stem cells. Mol Cell Biol. 2001 Nov; 21(22):7807-16.
- Necrotizing pancreatitis: contemporary analysis of 99 consecutive cases. Ann Surg. 2001 Oct; 234(4):572-9; discussion 579-80.
- Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1). Invest Ophthalmol Vis Sci. 2001 Sep; 42(10):2217-24.
- Pathways to photoreceptor cell death in inherited retinal degenerations. Bioessays. 2001 Jul; 23(7):605-18.
- Retinal expression, regulation, and functional bioactivity of prostacyclin-stimulating factor. J Clin Invest. 2000 Aug; 106(4):541-50.
- Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2000 Jun; 41(7):1898-908.
- Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet. 1999 Jul; 22(3):248-54.
- Cloning and mapping the mouse Crygs gene and non-lens expression of [gamma]S-crystallin. Mol Vis. 1998 Apr 30; 4:8.
- Histopathology and vascular endothelial growth factor in untreated and diode laser-treated retinopathy of prematurity. J AAPOS. 1997 Jun; 1(2):105-10.
- Regulation of vascular endothelial growth factor by oxygen in a model of retinopathy of prematurity. Arch Ophthalmol. 1996 Oct; 114(10):1219-28.
- Oligodeoxynucleotides inhibit retinal neovascularization in a murine model of proliferative retinopathy. Proc Natl Acad Sci U S A. 1996 May 14; 93(10):4851-6.
- Suppression of retinal neovascularization in vivo by inhibition of vascular endothelial growth factor (VEGF) using soluble VEGF-receptor chimeric proteins. Proc Natl Acad Sci U S A. 1995 Nov 07; 92(23):10457-61.
- Controversies in the management of retinopathy of prematurity. Int Ophthalmol Clin. 1994; 34(3):121-48.
- Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease. Proc Natl Acad Sci U S A. 1991 Dec 15; 88(24):11231-5.
- Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. J Clin Invest. 1990 Nov; 86(5):1729-37.
- Retinitis pigmentosa, autosomal recessive type: three kindreds. Birth Defects Orig Artic Ser. 1971 Mar; 7(3):180-2.
- Retinitis pigmentosa, X-linked form: two kindreds. Birth Defects Orig Artic Ser. 1971 Mar; 7(3):183-4.
- Retinitis pigmentosa, autosomal dominant type: two kindreds. Birth Defects Orig Artic Ser. 1971 Mar; 7(3):178-9.
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