Publications:

---

The genetic landscape of inherited retinal dystrophies in Arabs.

Bmc Medical Genomics

Jaffal, Lama L; Joumaa, Hawraa H; Noureldine, Jinane J; Banjak, Malak M; Ibrahim, Mariam M; Mrad, Zamzam Z; Salami, Ali A; Shamieh, Said El SE

Publication Date: 2023-05-01

Variant appearance in text: BBS: 944G>A

PubMed Link: 37127645

Variant Present in the following documents:

• 12920_2023_1518_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.

Genes

Azab, Bilal B; Dardas, Zain Z; Aburizeg, Dunia D; Al-Bdour, Muawyah M; Abu-Ameerh, Mohammed M; Saleh, Tareq T; Barham, Raghda R; Maswadi, Ranad R; Ababneh, Nidaa A NA; Alsalem, Mohammad M; Zouk, Hana H; Amr, Sami S; Awidi, Abdalla A

Publication Date: 2021-04-19

Variant appearance in text: BBS2: 944G>A; Arg315Gln; rs544773389

PubMed Link: 33921607

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Ocular Characteristics of Patients With Bardet-Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort.

Frontiers In Cell And Developmental Biology

Meng, Xiaohong X; Long, Yanling Y; Ren, Jiayun J; Wang, Gang G; Yin, Xin X; Li, Shiying S

Publication Date: 2021

Variant appearance in text: BBS: 944G>A; rs544773389

PubMed Link: 33777945

Variant Present in the following documents:

• Main text
• fcell-09-635216.pdf

View BVdb publication page

---

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: BBS2: 944G>A; Arg315Gln; rs544773389

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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: BBS2: R315Q

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: BBS2: R315Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

---

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

American Journal Of Human Genetics

Beales, Philip L PL; Badano, Jose L JL; Ross, Alison J AJ; Ansley, Stephen J SJ; Hoskins, Bethan E BE; Kirsten, Brigitta B; Mein, Charles A CA; Froguel, Philippe P; Scambler, Peter J PJ; Lewis, Richard Alan RA; Lupski, James R JR; Katsanis, Nicholas N

Publication Date: 2003-05

Variant appearance in text: BBS: R315Q

PubMed Link: 12677556

Variant Present in the following documents:

• Main text

View BVdb publication page

---