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ARVO Annual Meeting Abstract June 2023

Investigating genetic causality with a high throughput splicing assay

Kinga Maria Bujakowska; Hilary Scott; Emily Place; Evelyn Harper; Sudeep Mehrotra; Rachel M Huckfeldt; Jason Comander; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):493.

ARVO Annual Meeting Abstract June 2023

Challenges of common variants for risk assessment and genetic counseling of inherited retinal diseases

Molly Marra; Emma Bedoukain; Kaitlin O’Connell; Emily Place; Michelle Alabek; Erin O'Neil; Tomas S Aleman; Drew Scoles; Jason Comander; Rachel M Huckfeldt; Boris Rosin; Jose Sahel; Lesley Everett; Paul Yang; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):400.

ARVO Annual Meeting Abstract June 2023

Expression of Peripherin 2 (PRPH2) in retinal pigment epithelial cells

Nikolaos Efstathiou; Victor Correa; Ryo Matoba; Toshio Narimatsu; Dimitrios Ntentakis; Henar Albertos-Arranz; Constantine Georgakopoulos; Rachel M Huckfeldt; Yuki Morizane; Demetrios Vavvas

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2995.

ARVO Annual Meeting Abstract June 2023

Vitamin A for retinal degeneration revisited: the effects of genetic cause of disease, vitamin A/E supplementation and an electroretinogram biomarker on the rate of progression of rod-cone disease

Carol Weigel DiFranco; Jason Comander; Kit Green Sanderson; Emily Place; Matthew Maher; Erin Zampaglione; Yan Zhao; Rachel M Huckfeldt; Kinga Maria Bujakowska; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4446.

ARVO Annual Meeting Abstract June 2023

Dual Molecular Diagnoses in Patients with Inherited Retinal Degenerations

Marta Stevanovic; Kaitlin O’Connell; Priya Gupta; John Simmons Borchert; Jason Comander; Emily Place; Rachel M Huckfeldt

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4635.

ARVO Annual Meeting Abstract June 2023

Development of a High Throughput Assay

Hilary Scott; Emily Place; Evelyn Harper; Kevin Valestil; Sudeep Mehrotra; Rachel M Huckfeldt; Jason Comander; Eric A Pierce; Kinga Maria Bujakowska

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4521.

ARVO Annual Meeting Abstract June 2023

Assessment of clinical features and extraretinal manifestations of PRPF8 -associated retinitis pigmentosa

Priya Gupta; Emily Place; Netra Bellur-Modur; Jason Comander; Eric A Pierce; Rachel M Huckfeldt

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5442.

ARVO Annual Meeting Abstract June 2023

Baseline perimetry in Pro-EYS and correlation with other measures of disease severity

Rachel M Huckfeldt

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4632.

ARVO Annual Meeting Abstract June 2022

Findings on visual photosensitivity in two phase 1/2 clinical trials of subretinal gene therapy with AGTC-401 and AGTC-402 for CNGB3 and CNGA3 achromatopsia

Rachel M Huckfeldt; Jason Comander; Mark E Pennesi; Paul Yang; Andreas Lauer; Robert Sisk; Edward Averbukh; Eyal Banin; Ninel Z Gregori; Janet L Davis; Byron L Lam; Christine Nichols Kay; Jessica Ijams Wolfing Morgan; Joseph Carroll; Bright Senyo Ashimatey; Matthew Feinsod

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):450.

ARVO Annual Meeting Abstract June 2022

Visual acuity and full-field stimulus thresholds (FST) over 2 years in the RUSH2A study: annual rates of change from mixed effects modeling

Peiyao Cheng; David G Birch; Jacque L Duncan; Frederick L Ferris; Maureen G Maguire; Allison R. Ayala; Janet K Cheetham; Todd Durham; Abigail T Fahim; Rachel M Huckfeldt; Michel Michaelides; Mark E Pennesi; Jose Alain Sahel; Katarina Stingl; Ajoy Vincent; Christina Y Weng

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4480 – F0267.

ARVO Annual Meeting Abstract June 2022

The Genetic Basis of Rod-Cone versus Cone-Rod Dystrophies

Jason Comander; Sarah Chorfi; Emily Place; Carol Weigel Difranco; Rachel M Huckfeldt

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4492 – F0279.

Articles May 2022

Restoration of Vision and Retinal Responses After Adeno-Associated Virus–Mediated Optogenetic Therapy in Blind Dogs

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Sergei Nikonov; Puya Aravand; Arkady Lyubarsky; Roman Nikonov; Angela J. Luo; Zhangyong Wei; Albert M. Maguire; Nicholas T. Phelps; Ivan Shpylchak; Keirnan Willett; Tomas S. Aleman; Rachel M. Huckfeldt; Pavitra S. Ramachandran; Jean Bennett
TAGS: adeno-associated virus, dog, domestic, gene therapy, optogenetics, retina, retinal cone, vision, mice, animal model
Trans. Vis. Sci. Tech.. 2022; 11(5):24. https://doi.org/10.1167/tvst.11.5.24

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Visual field and Visual Acuity changes in the Natural History of Choroideremia

Emily Liu; Joshua Boyer; Rachel M. Huckfeldt; Elise Heon; Paul F Kenna; Isabelle Audo; Ruifang Sui; Elias I Traboulsi; Paul S Bernstein; Tim Stout; Kathy Reape; Daniel C Chung

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3506.

ARVO Annual Meeting Abstract June 2021

Antigen-specific memory CD4 + T cells are uveitogenic in chronic autoimmune uveitis

Yihe Chen; Nai-Wen Fan; Rachel M. Huckfeldt; Shudan Wang

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3454.

ARVO Annual Meeting Abstract June 2021

Twelve-month Findings from Two Phase 1/2 Clinical Studies of Subretinal Gene Therapy Drugs for Achromatopsia

Mark E Pennesi; Paul Yang; Andreas Lauer; Robert A Sisk; Jason M Comander; Rachel M. Huckfeldt; Edward Averbuhk; Eyal Banin; Ninel Gregori; Janet L Davis; Byron L Lam; Christine Kay; Erin Leone; Deanine Halliman; Nnenna Ihekoromadu; Matthew Feinsod

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3321.

Articles October 2020

The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline

PDF

David G. Birch; Peiyao Cheng; Jacque L. Duncan; Allison R. Ayala; Maureen G. Maguire; Isabelle Audo; Janet K. Cheetham; Todd A. Durham; Abigail T. Fahim; Frederick L. Ferris, III; Elise Heon; Rachel M. Huckfeldt; Alessandro Iannaccone; Naheed W. Khan; Eleonora M. Lad; Michel Michaelides; Mark E. Pennesi; Katarina Stingl; Ajoy Vincent; Christina Y. Weng; for the Foundation Fighting Blindness Consortium Investigator Group
TAGS: electroretinography, visual acuity
Trans. Vis. Sci. Tech.. 2020; 9(11):9. https://doi.org/10.1167/tvst.9.11.9

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Subfoveal gene augmentation therapy for choroideremia: One-year results from a Phase I/II trial of AAV2-hCHM

Rachel M Huckfeldt; Tomas S Aleman; Tu Doan; Xiao-Hong Wen; Carol Weigel-DiFranco; Daniel C Chung; Emily Liu; Eric A Pierce; Jean Bennett; Albert M. Maguire; Dean Eliott; Jason Comander

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):6401.

ARVO Annual Meeting Abstract July 2019

AAV2- hCHM Subretinal Delivery to the Macula in Choroideremia: 2 year Results of an Ongoing Phase I/II Gene Therapy Trial

Tomas S Aleman; Rachel M Huckfeldt; Leona Serrano; Grace Vergilio; Denise J Pearson; Katherine E. Uyhazi; Sarah McCague; Kathleen Marshall; Daniel C Chung; Emily Liu; Eric A Pierce; Jessica Ijams Wolfing Morgan; Jean Bennett; Dean Eliott; Jason Comander; Albert M. Maguire

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5173.

ARVO Annual Meeting Abstract July 2019

Phenotypic variability in patients with CDHR1 mutations

David Andrew Terrell; Rachel M Huckfeldt; Eric A Pierce; Emily Margaret Place

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):376.

ARVO Annual Meeting Abstract July 2018

Phenotypic variability in patients with RP1 mutations

Rachel M Huckfeldt; Carly Murphy; Brian Palmer Hafler; Demetrios G. Vavvas; Lucy H Young; Eric A Pierce; Emily Place

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):39.

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Investigating genetic causality with a high throughput splicing assay

Challenges of common variants for risk assessment and genetic counseling of inherited retinal diseases

Expression of Peripherin 2 (PRPH2) in retinal pigment epithelial cells

Vitamin A for retinal degeneration revisited: the effects of genetic cause of disease, vitamin A/E supplementation and an electroretinogram biomarker on the rate of progression of rod-cone disease

Dual Molecular Diagnoses in Patients with Inherited Retinal Degenerations

Development of a High Throughput Assay

Assessment of clinical features and extraretinal manifestations of PRPF8 -associated retinitis pigmentosa

Baseline perimetry in Pro-EYS and correlation with other measures of disease severity

Findings on visual photosensitivity in two phase 1/2 clinical trials of subretinal gene therapy with AGTC-401 and AGTC-402 for CNGB3 and CNGA3 achromatopsia

Visual acuity and full-field stimulus thresholds (FST) over 2 years in the RUSH2A study: annual rates of change from mixed effects modeling

The Genetic Basis of Rod-Cone versus Cone-Rod Dystrophies

Restoration of Vision and Retinal Responses After Adeno-Associated Virus–Mediated Optogenetic Therapy in Blind Dogs

Visual field and Visual Acuity changes in the Natural History of Choroideremia

Antigen-specific memory CD4 + T cells are uveitogenic in chronic autoimmune uveitis

Twelve-month Findings from Two Phase 1/2 Clinical Studies of Subretinal Gene Therapy Drugs for Achromatopsia

The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline

Subfoveal gene augmentation therapy for choroideremia: One-year results from a Phase I/II trial of AAV2-hCHM

AAV2- hCHM Subretinal Delivery to the Macula in Choroideremia: 2 year Results of an Ongoing Phase I/II Gene Therapy Trial

Phenotypic variability in patients with CDHR1 mutations

Phenotypic variability in patients with RP1 mutations

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