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ARVO Annual Meeting Abstract June 2024

Are Age-Related Macular Degeneration SNPs gene modifiers of North Carolina Macular Dystrophy’s variable expressivity?

Kent W Small

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5269.

ARVO Annual Meeting Abstract June 2023

North Carolina Macular Dystrophy (NCMD/MCDR1): Analysis of our entire database, a model disease of non-coding mutations

Kent W Small

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5408.

ARVO Annual Meeting Abstract June 2023

Overexpression of PRDM13 Leads to Photoreceptor Degeneration in a Novel, Inducible Murine Model

Emily Nettesheim; Ashley Rowe; Tyler Cepica; Tiffany Yee; Ahmed Alshaikhsalama; Glen Wickersham; Vinit Mahajan; Kent W Small; Katherine J. Wert

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3705.

ARVO Annual Meeting Abstract June 2023

Two novel non-coding base pair mutations at the same DNASE1 site as the original North Carolina Macular Dystrophy / MCDR1 locus affecting PRDM13, in two Korean families.

Leslie Small; Kent W Small; Amber Diaz; Kwangsic Joo; Se Joon Woo; Yuri Seo; Junwon Lee; Jinu Han

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3652.

ARVO Annual Meeting Abstract June 2022

Closure of Macular Holes With Topical Therapy and Why The Hydration Theory of Macular Hole Formation May Be Inaccurate

Kent W Small; Jessica Avetisjan; Fadi Shaya

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3769 – F0190.

ARVO Annual Meeting Abstract June 2021

Whole genome sequencing and UMI-4C provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis -regulatory disease

Stijn Van de Sompele; Eva D'haene; Thijs Van der Snickt; Sarah Vergult; Petra Liskova; Fadi Shaya; Karen Nuytemans; Jeffery M Vance; Margaret A Pericak-Vance; Andrea L Vincent; Steven Agemy; Kent W Small; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3.

ARVO Annual Meeting Abstract June 2020

Age-Related Macular Degeneration Genetic Variation in Armenian Population

Chelsey Knapper; Kent W Small; Jessica Avetisjan; Fadi Shaya

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2437.

ARVO Annual Meeting Abstract June 2020

North Carolina Macular Dystrophy (NCMD/MCDR1): Haplotype analysis shows single ancestral founder in 13 American families

Kent W Small; Edwin M Stone; Monique J Leys; Richard Alan Lewis; Steven Agemy; Charles A Garcia; Todd Schneiderman; Thomas A Rice; Fadi Shaya

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4462.

ARVO Annual Meeting Abstract June 2020

Segregation Distortion, “gene cheating”, in families with North Carolina Macular Dystrophy (MCDR1/NCMD)

Fadi Shaya; Nitin Udar; Brent Zanke; Kent W Small

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4464.

ARVO Annual Meeting Abstract July 2019

North Carolina Macular Dystrophy (NCMD): 50 year follow up of the original family

Fadi Shaya; Robert Wiggins; Jessica Avetisjan; Kent W Small

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5033.

ARVO Annual Meeting Abstract July 2019

Best Disease is a Phenocopy of North Carolina Macular Dystrophy (NCMD / MCDR1)

Kent W Small; Benjamin Bakall; Edwin M Stone; Robert Wiggins; Nitin Udar; Steven Agemy; Fadi Shaya

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5041.

ARVO Annual Meeting Abstract July 2018

Genetic characterisation of North Carolina Macular Dystrophy in a predominantly Non-Caucasian population

Andrea L Vincent; Lin Hou; Fadi Shaya; Monique J Leys; Kent W Small

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1437.

ARVO Annual Meeting Abstract July 2018

Multimodal imaging including OCT-A and functional testing of North Carolina Macular Dystrophy (NCMD) provides new insights into the developmental nature of NCMD and the development of the human macula

Kent W Small; Fadi Shaya; Nitin Udar; Leslie Small; Edwin M Stone

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3161.

ARVO Annual Meeting Abstract June 2017

North Carolina macular dystrophy: mutations found in 12 additional families

Kent W Small; Fadi Shaya; Svetlana Yelchits; Adam P DeLuca; Richard Alan Lewis; Monique J Leys; Nitin Udar; Benjamin Bakall; Klaus Rohrschneider; Bernard Puech; Virginie Puech; Elise Heon; James C Folk; Gerald A Fishman; Christine Garabetian; Edwin M Stone

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2779.

ARVO Annual Meeting Abstract June 2017

Benefits of Aspirin Outweigh Risks in Age-related Macular Degeneration Patients

Christine Garabetian; Kent W Small; Fadi Shaya

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3200.

ARVO Annual Meeting Abstract September 2016

Age-Related Macular Degeneration Genetic Variation in Armenian Population

Jessica Avetisjan; Erin Wagner; Kent W Small; Fadi Shaya; Elaine Tran; Johanna M Seddon

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2635.

ARVO Annual Meeting Abstract September 2016

North Carolina Macular Dystrophy (NCMD / MCDR1) mutations found; PRDM13

Kent W Small; Adam P DeLuca; Frans P Cremers; Carl Hoyng; Monique J Leys; Benjamin Bakall; Richard Allen Lewis; Rosemary Silva-Garcia; Klaus Rohrschneider; Edwin M Stone

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3133.

ARVO Annual Meeting Abstract September 2016

Final Outcomes of an Outbreak of Fungal Endophthalmitis Caused by Contaminated Intravitreal Triamcinolone from a Compounding Pharmacy

Fadi Shaya; Ben Cohen; Thomas Walsh; Alan Sheyman; David Eppenstein; Kent W Small

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6374.

ARVO Annual Meeting Abstract June 2015

Post market experience with Ocriplasmin correlating chronic changes in electrophysiology (ERG) and optical coherence tomography (OCT)

Maribel La Fontaine; Fadi Shaya; Kent W Small

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1201.

ARVO Annual Meeting Abstract June 2015

Age-Related Macular Degeneration and Aspirin Use

Fadi Shaya; Kent W Small

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5128.

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Are Age-Related Macular Degeneration SNPs gene modifiers of North Carolina Macular Dystrophy’s variable expressivity?

North Carolina Macular Dystrophy (NCMD/MCDR1): Analysis of our entire database, a model disease of non-coding mutations

Overexpression of PRDM13 Leads to Photoreceptor Degeneration in a Novel, Inducible Murine Model

Two novel non-coding base pair mutations at the same DNASE1 site as the original North Carolina Macular Dystrophy / MCDR1 locus affecting PRDM13, in two Korean families.

Closure of Macular Holes With Topical Therapy and Why The Hydration Theory of Macular Hole Formation May Be Inaccurate

Whole genome sequencing and UMI-4C provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis -regulatory disease

Age-Related Macular Degeneration Genetic Variation in Armenian Population

North Carolina Macular Dystrophy (NCMD/MCDR1): Haplotype analysis shows single ancestral founder in 13 American families

Segregation Distortion, “gene cheating”, in families with North Carolina Macular Dystrophy (MCDR1/NCMD)

North Carolina Macular Dystrophy (NCMD): 50 year follow up of the original family

Best Disease is a Phenocopy of North Carolina Macular Dystrophy (NCMD / MCDR1)

Genetic characterisation of North Carolina Macular Dystrophy in a predominantly Non-Caucasian population

Multimodal imaging including OCT-A and functional testing of North Carolina Macular Dystrophy (NCMD) provides new insights into the developmental nature of NCMD and the development of the human macula

North Carolina macular dystrophy: mutations found in 12 additional families

Benefits of Aspirin Outweigh Risks in Age-related Macular Degeneration Patients

Age-Related Macular Degeneration Genetic Variation in Armenian Population

North Carolina Macular Dystrophy (NCMD / MCDR1) mutations found; PRDM13

Final Outcomes of an Outbreak of Fungal Endophthalmitis Caused by Contaminated Intravitreal Triamcinolone from a Compounding Pharmacy

Post market experience with Ocriplasmin correlating chronic changes in electrophysiology (ERG) and optical coherence tomography (OCT)

Age-Related Macular Degeneration and Aspirin Use

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