Publications:

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Kidney failure in Bardet-Biedl syndrome.

Clinical Genetics

Meyer, Jennifer R JR; Krentz, Anthony D AD; Berg, Richard L RL; Richardson, Jesse G JG; Pomeroy, Jeremy J; Hebbring, Scott J SJ; Haws, Robert M RM

Publication Date: 2022-04

Variant appearance in text: BBS: 311A>C

PubMed Link: 35112343

Variant Present in the following documents:

• Main text
• CGE-101-429.pdf

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Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet-Biedl Syndrome.

Journal Of Ophthalmology

Huang, Li L; Sun, Limei L; Wang, Zhirong Z; Li, Songshan S; Chen, Chonglin C; Luo, Xiaoling X; Ding, Xiaoyan X

Publication Date: 2021

Variant appearance in text: BBS: D104A

PubMed Link: 33520300

Variant Present in the following documents:

• Main text
• joph2021-6751857.pdf

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Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

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

Zampaglione, Erin E; Kinde, Benyam B; Place, Emily M EM; Navarro-Gomez, Daniel D; Maher, Matthew M; Jamshidi, Farzad F; Nassiri, Sherwin S; Mazzone, J Alex JA; Finn, Caitlin C; Schlegel, Dana D; Comander, Jason J; Pierce, Eric A EA; Bujakowska, Kinga M KM

Publication Date: 2020-06

Variant appearance in text: BBS2: 311A>C; Asp104Ala

PubMed Link: 32037395

Variant Present in the following documents:

• 41436_2020_759_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.

Clinical Genetics

Shi, L L; Webb, B D BD; Birch, A H AH; Elkhoury, L L; McCarthy, J J; Cai, X X; Oishi, K K; Mehta, L L; Diaz, G A GA; Edelmann, L L; Kornreich, R R

Publication Date: 2017-04

Variant appearance in text: BBS2: D104A

PubMed Link: 27415407

Variant Present in the following documents:

• Main text

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Bardet-Biedl Syndrome.

Molecular Syndromology

Suspitsin, Evgeny N EN; Imyanitov, Evgeny N EN

Publication Date: 2016-05

Variant appearance in text: BBS: 311A>C

PubMed Link: 27385962

Variant Present in the following documents:

• Main text

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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: D104A

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: D104A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

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

Consugar, Mark B MB; Navarro-Gomez, Daniel D; Place, Emily M EM; Bujakowska, Kinga M KM; Sousa, Maria E ME; Fonseca-Kelly, Zoë D ZD; Taub, Daniel G DG; Janessian, Maria M; Wang, Dan Yi DY; Au, Elizabeth D ED; Sims, Katherine B KB; Sweetser, David A DA; Fulton, Anne B AB; Liu, Qin Q; Wiggs, Janey L JL; Gai, Xiaowu X; Pierce, Eric A EA

Publication Date: 2015-04

Variant appearance in text: BBS2: 311A>C; Asp104Ala

PubMed Link: 25412400

Variant Present in the following documents:

• NIHMS639026-supplement-Supplementary_Material_-_Table_S7_Excel.xls, sheet 1

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Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

Investigative Ophthalmology & Visual Science

Chen, Jianjun J; Smaoui, Nizar N; Hammer, Monia Ben Hamed MB; Jiao, Xiaodong X; Riazuddin, S Amer SA; Harper, Shyana S; Katsanis, Nicholas N; Riazuddin, Sheikh S; Chaabouni, Habiba H; Berson, Eliot L EL; Hejtmancik, J Fielding JF

Publication Date: 2011-07-18

Variant appearance in text: BBS: 311A>C

PubMed Link: 21642631

Variant Present in the following documents:

• Main text

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Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

European Journal Of Human Genetics : Ejhg

Pereiro, Ines I; Hoskins, Bethan E BE; Marshall, Jan D JD; Collin, Gayle B GB; Naggert, Jürgen K JK; Piñeiro-Gallego, Teresa T; Oitmaa, Eneli E; Katsanis, Nicholas N; Valverde, Diana D; Beales, Philip L PL

Publication Date: 2011-04

Variant appearance in text: BBS: D104A

PubMed Link: 21157496

Variant Present in the following documents:

• Main text

View BVdb publication page

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