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: 4320delT

PubMed Link: 36246008

Variant Present in the following documents:

• mmc3.pdf

View BVdb publication page

---

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: 4320delT; Phe1440Leufs

PubMed Link: 35608843

Variant Present in the following documents:

• iovs-63-5-28_s010.pdf

View BVdb publication page

---

Deep learning segmentation of hyperautofluorescent fleck lesions in Stargardt disease.

Scientific Reports

Charng, Jason J; Xiao, Di D; Mehdizadeh, Maryam M; Attia, Mary S MS; Arunachalam, Sukanya S; Lamey, Tina M TM; Thompson, Jennifer A JA; McLaren, Terri L TL; De Roach, John N JN; Mackey, David A DA; Frost, Shaun S; Chen, Fred K FK

Publication Date: 2020-10-05

Variant appearance in text: STGD1: 4320delT

PubMed Link: 33020556

Variant Present in the following documents:

• Main text
• 41598_2020_Article_73339.pdf

View BVdb publication page

---

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: 4320delT; F1440fs

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

---

Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.

Molecular Genetics & Genomic Medicine

Yohe, Sophia S; Sivasankar, Malaichamy M; Ghosh, Anuprita A; Ghosh, Arkasubhra A; Holle, Jennifer J; Murugan, Sakthivel S; Gupta, Ravi R; Schimmenti, Lisa A LA; Vedam, Ramprasad R; Thyagarajan, Bharat B

Publication Date: 2020-02

Variant appearance in text: ABCA4: 4320delT

PubMed Link: 31816670

Variant Present in the following documents:

• MGG3-8-e1081-s001.xlsx, sheet 1

View BVdb publication page

---

Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.

Genes

Dockery, Adrian A; Stephenson, Kirk K; Keegan, David D; Wynne, Niamh N; Silvestri, Giuliana G; Humphries, Peter P; Kenna, Paul F PF; Carrigan, Matthew M; Farrar, G Jane GJ

Publication Date: 2017-11-03

Variant appearance in text: ABCA4: 4320delT

PubMed Link: 29099798

Variant Present in the following documents:

• Main text
• genes-08-00304.pdf

View BVdb publication page

---

Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization.

Investigative Ophthalmology & Visual Science

Mullins, Robert F RF; Kuehn, Markus H MH; Radu, Roxana A RA; Enriquez, G Stephanie GS; East, Jade S JS; Schindler, Emily I EI; Travis, Gabriel H GH; Stone, Edwin M EM

Publication Date: 2012-04-18

Variant appearance in text: ABCA4: 4318del

PubMed Link: 22395892

Variant Present in the following documents:

• Main text

View BVdb publication page

---