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Office
243 Charles St
# Massachu
Boston, MA 02114Phone+1 617-573-3621Fax+1 617-573-3661
Education & Training
- Boston Children's Hospital1994 - 1996
- Massachusetts Eye and Ear Infirmary/Harvard Medical SchoolResidency, Ophthalmology, 1991 - 1994
- Massachusetts General HospitalInternship, Internal Medicine, 1990 - 1991
- Harvard Medical SchoolClass of 1990
- University of Wisconsin - MadisonPhD, Biochemistry, 1981 - 1986
Certifications & Licensure
- MA State Medical License 1994 - 2026
- PA State Medical License 1999 - 2012
- American Board of Ophthalmology Ophthalmology
Awards, Honors, & Recognition
- Ephraim Friedman Lecturer in Ophthalmology Mass Eye and Ear, Harvard Medical School
- Richard Weleber Lecturer in Ophthalmology Casey Eye Institute, Oregon Health Sciences University
- Roger Johnson Lecturer in Ophthalmology Children's Hospital and Regional Medical Center, Seattle, Washington
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Publications & Presentations
PubMed
- 118 citationsMutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial EncephalomyopathyXiaowu Gai, Daniele Ghezzi, Mark A. Johnson, Caroline Biagosch, Hanan E. Shamseldin
American Journal of Human Genetics. 2013-09-05 - 59 citationsMitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genom...Marni J. Falk, Lishuang Shen, Michael A. Gonzalez, Jeremy Leipzig, Marie T. Lott
Molecular Genetics and Metabolism. 2015-03-01 - 295 citationsThe Proteome of the Mouse Photoreceptor Sensory Cilium ComplexQin Liu, Glenn Tan, Natasha Levenkova, Tiansen Li, Edward N. Pugh
Molecular & Cellular Proteomics. 2007-08-01
Journal Articles
- Contribution of Noncoding Pathogenic Variants to RPGRIP1-Mediated Inherited Retinal DegenerationKari E Branham, Emily M Place, Eric A Pierce, Nature
Press Mentions
- Investigating CRISPR Treatment for BlindnessAugust 1st, 2024
- Gene Therapy Improves Vision in People with Inherited BlindnessMay 6th, 2024
- Experimental Gene Therapy Restores Some Vision in Patients with Inherited Blindness | CNNMay 6th, 2024
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Grant Support
- The Pathogenesis Of RNA Splicing Factor RPNational Eye Institute2011–2012
- The Pathogenesis Of RNA Splicing Factor RPNational Eye Institute2011
- Novel Photoreceptor Cilia Proteins And Retinal DegenerationsNational Eye Institute2011
- Novel Photoreceptor Cilia Proteins And Retinal DegenerationsNational Eye Institute2009–2011
- A Novel Photoreceptor Protein And Retinal DegenerationsNational Eye Institute2004–2008
- Novel Photoreceptor Protein And Retinal DegenerationsNational Eye Institute1999–2003
- Animals With Targeted Mutations In Photoreceptor GenesNational Eye Institute2001–2002
- Biochemical Basis Of Retinal NeovascularizationNational Eye Institute1994–1998
Professional Memberships
- American Society of Human GeneticsMember
- Association for Research in Vision and OphthalmologyMember
Other Languages
- Spanish
External Links
- Ocular Genomics Institutehttps://oculargenomics.meei.harvard.edu/
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