Publications:

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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: rs3026772

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: RET: 2801+54A>T; rs3026772

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: rs3026772

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

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Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Oncotarget

Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S

Publication Date: 2014-11-15

Variant appearance in text: rs3026772

PubMed Link: 25347344

Variant Present in the following documents:

• oncotarget-05-10596-s002.xlsx, sheet 4

View BVdb publication page

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Determination of RET Sequence Variation in an MEN2 Unaffected Cohort Using Multiple-Sample Pooling and Next-Generation Sequencing.

Journal Of Thyroid Research

Margraf, R L RL; Durtschi, J D JD; Stephens, J E JE; Perez, M M; Voelkerding, K V KV

Publication Date: 2012

Variant appearance in text: RET: 2801+54A>T

PubMed Link: 22545224

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma.

Journal Of Thyroid Research

Hedayati, Mehdi M; Zarif Yeganeh, Marjan M; Sheikhol Eslami, Sara S; Rezghi Barez, Shekoofe S; Hoghooghi Rad, Laleh L; Azizi, Fereidoun F

Publication Date: 2011

Variant appearance in text: rs3026772

PubMed Link: 21765987

Variant Present in the following documents:

• Main text
• JTR2011-264248.pdf

View BVdb publication page

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