Publications:

Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence.

Ophthalmology Science

Heath Jeffery, Rachael C RC; Thompson, Jennifer A JA; Lo, Johnny J; Lamey, Tina M TM; McLaren, Terri L TL; McAllister, Ian L IL; Mackey, David A DA; Constable, Ian J IJ; De Roach, John N JN; Chen, Fred K FK

Publication Date: 2021-03

Variant appearance in text: ABCA4: 1643G>A

PubMed Link: 36246008

Variant Present in the following documents:

• mmc3.pdf

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Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.

Investigative Ophthalmology & Visual Science

Wang, Yingwei Y; Sun, Wenmin W; Zhou, Jing J; Li, Xueqing X; Jiang, Yi Y; Li, Shiqiang S; Jia, Xiaoyun X; Xiao, Xueshan X; Ouyang, Jiamin J; Wang, Yueye Y; Zhou, Lin L; Long, Yuxi Y; Liu, Mengchu M; Li, Yongyu Y; Yi, Zhen Z; Wang, Panfeng P; Zhang, Qingjiong Q

Publication Date: 2022-05-02

Variant appearance in text: ABCA4: 1643G>A; Trp548*

PubMed Link: 35608843

Variant Present in the following documents:

• iovs-63-5-28_s010.pdf

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Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

Plos Genetics

Biswas, Pooja P; Villanueva, Adda L AL; Soto-Hermida, Angel A; Duncan, Jacque L JL; Matsui, Hiroko H; Borooah, Shyamanga S; Kurmanov, Berzhan B; Richard, Gabriele G; Khan, Shahid Y SY; Branham, Kari K; Huang, Bonnie B; Suk, John J; Bakall, Benjamin B; Goldberg, Jeffrey L JL; Gabriel, Luis L; Khan, Naheed W NW; Raghavendra, Pongali B PB; Zhou, Jason J; Devalaraja, Sindhu S; Huynh, Andrew A; Alapati, Akhila A; Zawaydeh, Qais Q; Weleber, Richard G RG; Heckenlively, John R JR; Hejtmancik, J Fielding JF; Riazuddin, Sheikh S; Sieving, Paul A PA; Riazuddin, S Amer SA; Frazer, Kelly A KA; Ayyagari, Radha R

Publication Date: 2021-10

Variant appearance in text: ABCA4: 1643G>A

PubMed Link: 34662339

Variant Present in the following documents:

• Main text
• pgen.1009848.pdf

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A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: ABCA4: W548X

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

Plos One

Weisschuh, Nicole N; Mayer, Anja K AK; Strom, Tim M TM; Kohl, Susanne S; Glöckle, Nicola N; Schubach, Max M; Andreasson, Sten S; Bernd, Antje A; Birch, David G DG; Hamel, Christian P CP; Heckenlively, John R JR; Jacobson, Samuel G SG; Kamme, Christina C; Kellner, Ulrich U; Kunstmann, Erdmute E; Maffei, Pietro P; Reiff, Charlotte M CM; Rohrschneider, Klaus K; Rosenberg, Thomas T; Rudolph, Günther G; Vámos, Rita R; Varsányi, Balázs B; Weleber, Richard G RG; Wissinger, Bernd B

Publication Date: 2016

Variant appearance in text: ABCA4: W548*

PubMed Link: 26766544

Variant Present in the following documents:

• Main text
• pone.0145951.pdf

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