Publications:

Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs11161510

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs11161510

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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Current status on genome-metabolome-wide associations: an opportunity in nutrition research.

Genes & Nutrition

Montoliu, Ivan I; Genick, Ulrich U; Ledda, Mirko M; Collino, Sebastiano S; Martin, François-Pierre FP; le Coutre, Johannes J; Rezzi, Serge S

Publication Date: 2013-01

Variant appearance in text: rs11161510

PubMed Link: 23065485

Variant Present in the following documents:

• Main text

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The minor C-allele of rs2014355 in ACADS is associated with reduced insulin release following an oral glucose load.

Bmc Medical Genetics

Hornbak, Malene M; Banasik, Karina K; Justesen, Johanne M JM; Krarup, Nikolaj T NT; Sandholt, Camilla H CH; Andersson, Åsa Å; Sandbæk, Annelli A; Lauritzen, Torsten T; Pisinger, Charlotta C; Witte, Daniel R DR; Sørensen, Thorkild A A TA; Pedersen, Oluf O; Hansen, Torben T

Publication Date: 2011-01-06

Variant appearance in text: rs11161510

PubMed Link: 21211036

Variant Present in the following documents:

• Main text
• 1471-2350-12-4.pdf

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Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.

Plos Genetics

Gieger, Christian C; Geistlinger, Ludwig L; Altmaier, Elisabeth E; Hrabé de Angelis, Martin M; Kronenberg, Florian F; Meitinger, Thomas T; Mewes, Hans-Werner HW; Wichmann, H-Erich HE; Weinberger, Klaus M KM; Adamski, Jerzy J; Illig, Thomas T; Suhre, Karsten K

Publication Date: 2008-11

Variant appearance in text: rs11161510

PubMed Link: 19043545

Variant Present in the following documents:

• Main text
• pgen.1000282.pdf

View BVdb publication page