Publications:

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Identification of a novel mutation in complement receptor 2 in Chinese familial systemic lupus erythematosus.

Archives Of Rheumatology

Tang, Yuewu Y; Luo, Yi Y

Publication Date: 2022-12

Variant appearance in text: CR2: 2611G>T; Val871Leu

PubMed Link: 36879571

Variant Present in the following documents:

• ArchRheumatol-2022-37-566.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: CR2: V871L

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: CR2: V871L; rs144572703

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).

Scientific Reports

Bisgin, Atil A; Sonmezler, Ozge O; Boga, Ibrahim I; Yilmaz, Mustafa M

Publication Date: 2021-04-15

Variant appearance in text: CR2: 2611G>T; V871L

PubMed Link: 33859323

Variant Present in the following documents:

• 41598_2021_87898_MOESM3_ESM.pdf
• 41598_2021_87898_MOESM2_ESM.pdf

View BVdb publication page

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Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.

Frontiers In Immunology

de Valles-Ibáñez, Guillem G; Esteve-Solé, Ana A; Piquer, Mònica M; González-Navarro, E Azucena EA; Hernandez-Rodriguez, Jessica J; Laayouni, Hafid H; González-Roca, Eva E; Plaza-Martin, Ana María AM; Deyà-Martínez, Ángela Á; Martín-Nalda, Andrea A; Martínez-Gallo, Mónica M; García-Prat, Marina M; Del Pino-Molina, Lucía L; Cuscó, Ivón I; Codina-Solà, Marta M; Batlle-Masó, Laura L; Solís-Moruno, Manuel M; Marquès-Bonet, Tomàs T; Bosch, Elena E; López-Granados, Eduardo E; Aróstegui, Juan Ignacio JI; Soler-Palacín, Pere P; Colobran, Roger R; Yagüe, Jordi J; Alsina, Laia L; Juan, Manel M; Casals, Ferran F

Publication Date: 2018

Variant appearance in text: rs144572703

PubMed Link: 29867916

Variant Present in the following documents:

• Main text
• fimmu-09-00636.pdf

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CR2: V871L

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: rs144572703

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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