Publications:

---

Stage-dependent choriocapillaris impairment in Best vitelliform macular dystrophy characterized by optical coherence tomography angiography.

Scientific Reports

Jauregui, Ruben R; Parmann, Rait R; Nuzbrokh, Yan Y; Tsang, Stephen H SH; Sparrow, Janet R JR

Publication Date: 2021-07-12

Variant appearance in text: BEST1: 900G>C; E300D

PubMed Link: 34253754

Variant Present in the following documents:

• Main text
• 41598_2021_Article_93316.pdf

View BVdb publication page

---

Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.

Investigative Ophthalmology & Visual Science

Pfister, Tyler A TA; Zein, Wadih M WM; Cukras, Catherine A CA; Sen, Hatice N HN; Maldonado, Ramiro S RS; Huryn, Laryssa A LA; Hufnagel, Robert B RB

Publication Date: 2021-05-03

Variant appearance in text: BEST1: Glu300Asp

PubMed Link: 34015078

Variant Present in the following documents:

• iovs-62-6-22_s002.pdf

View BVdb publication page

---

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.

Jama Ophthalmology

Shah, Mital M; Broadgate, Suzanne S; Shanks, Morag M; Clouston, Penny P; Yu, Jing J; MacLaren, Robert E RE; Németh, Andrea H AH; Halford, Stephanie S; Downes, Susan M SM

Publication Date: 2020-05-01

Variant appearance in text: BEST1: 900G>C; Glu300Asp

PubMed Link: 32239196

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.

International Journal Of Molecular Sciences

Nachtigal, Anna-Lena AL; Milenkovic, Andrea A; Brandl, Caroline C; Schulz, Heidi L HL; Duerr, Lisa M J LMJ; Lang, Gabriele E GE; Reiff, Charlotte C; Herrmann, Philipp P; Kellner, Ulrich U; Weber, Bernhard H F BHF

Publication Date: 2020-02-26

Variant appearance in text: BEST1: 900G>C

PubMed Link: 32111077

Variant Present in the following documents:

• ijms-21-01597-s001.pdf

View BVdb publication page

---

Multimodal Imaging in Best Vitelliform Macular Dystrophy.

Investigative Ophthalmology & Visual Science

Lima de Carvalho, Jose Ronaldo JR; Paavo, Maarjaliis M; Chen, Lijuan L; Chiang, John J; Tsang, Stephen H SH; Sparrow, Janet R JR

Publication Date: 2019-05-01

Variant appearance in text: BEST1: 900G>C; Glu300Asp

PubMed Link: 31070670

Variant Present in the following documents:

• Main text
• i1552-5783-60-6-2012.pdf

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: VMD2: E300D; rs1805144

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

Clinical evaluation of two consanguineous families with homozygous mutations in BEST1.

Molecular Vision

Piñeiro-Gallego, Teresa T; Álvarez, María M; Pereiro, Inés I; Campos, Severiano S; Sharon, Dror D; Schatz, Patrik P; Valverde, Diana D

Publication Date: 2011

Variant appearance in text: BEST1: E300D

PubMed Link: 21738390

Variant Present in the following documents:

• Main text
• mv-v17-1607.pdf

View BVdb publication page

---

Ca2+-activated Cl- current from human bestrophin-4 in excised membrane patches.

The Journal Of General Physiology

Tsunenari, Takashi T; Nathans, Jeremy J; Yau, King-Wai KW

Publication Date: 2006-06

Variant appearance in text: VMD2: E300D

PubMed Link: 16702355

Variant Present in the following documents:

• jgp1270749.pdf

View BVdb publication page

---