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: rs28584674

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Genome-wide association study for systemic lupus erythematosus in an egyptian population.

Frontiers In Genetics

Elghzaly, Ashraf A AA; Sun, Celi C; Looger, Loren L LL; Hirose, Misa M; Salama, Mohamed M; Khalil, Noha M NM; Behiry, Mervat Essam ME; Hegazy, Mohamed Tharwat MT; Hussein, Mohamed Ahmed MA; Salem, Mohamad Nabil MN; Eltoraby, Ehab E; Tawhid, Ziyad Z; Alwasefy, Mona M; Allam, Walaa W; El-Shiekh, Iman I; Elserafy, Menattallah M; Abdelnaser, Anwar A; Hashish, Sara S; Shebl, Nourhan N; Shahba, Abeer Abdelmonem AA; Elgirby, Amira A; Hassab, Amina A; Refay, Khalida K; El-Touchy, Hanan Mohamed HM; Youssef, Ali A; Shabacy, Fatma F; Hashim, Abdelkader Ahmed AA; Abdelzaher, Asmaa A; Alshebini, Emad E; Fayez, Dalia D; El-Bakry, Samah A SA; Elzohri, Mona H MH; Abdelsalam, Eman Nagiub EN; El-Khamisy, Sherif F SF; Ibrahim, Saleh S; Ragab, Gaafar G; Nath, Swapan K SK

Publication Date: 2022

Variant appearance in text: rs28584674

PubMed Link: 36324510

Variant Present in the following documents:

• Main text
• fgene-13-948505.pdf

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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: rs28584674

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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Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Cold Spring Harbor Molecular Case Studies

Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE

Publication Date: 2018-04

Variant appearance in text: IKBKE: 1183+48T>C; rs28584674

PubMed Link: 29449315

Variant Present in the following documents:

• supp_mcs.a002352_Supplemental_Table_3.xls, sheet 1

View BVdb publication page