Publications:

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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: rs2240716

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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: rs2240716

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology

Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC

Publication Date: 2022-07-08

Variant appearance in text: rs2240716

PubMed Link: 35802478

Variant Present in the following documents:

• noac171_suppl_suplementary_table_s7.xlsx, sheet 1

View BVdb publication page

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Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

Nature Genetics

Giri, Ayush A; Hellwege, Jacklyn N JN; Keaton, Jacob M JM; Park, Jihwan J; Qiu, Chengxiang C; Warren, Helen R HR; Torstenson, Eric S ES; Kovesdy, Csaba P CP; Sun, Yan V YV; Wilson, Otis D OD; Robinson-Cohen, Cassianne C; Roumie, Christianne L CL; Chung, Cecilia P CP; Birdwell, Kelly A KA; Damrauer, Scott M SM; DuVall, Scott L SL; Klarin, Derek D; Cho, Kelly K; Wang, Yu Y; Evangelou, Evangelos E; Cabrera, Claudia P CP; Wain, Louise V LV; Shrestha, Rojesh R; Mautz, Brian S BS; Akwo, Elvis A EA; Sargurupremraj, Muralidharan M; Debette, Stéphanie S; Boehnke, Michael M; Scott, Laura J LJ; Luan, Jian'an J; Zhao, Jing-Hua JH; Willems, Sara M SM; Thériault, Sébastien S; Shah, Nabi N; Oldmeadow, Christopher C; Almgren, Peter P; Li-Gao, Ruifang R; Verweij, Niek N; Boutin, Thibaud S TS; Mangino, Massimo M; Ntalla, Ioanna I; Feofanova, Elena E; Surendran, Praveen P; Cook, James P JP; Karthikeyan, Savita S; Lahrouchi, Najim N; Liu, Chunyu C; Sepúlveda, Nuno N; Richardson, Tom G TG; Kraja, Aldi A; Amouyel, Philippe P; Farrall, Martin M; Poulter, Neil R NR; , ; , ; , ; Laakso, Markku M; Zeggini, Eleftheria E; Sever, Peter P; Scott, Robert A RA; Langenberg, Claudia C; Wareham, Nicholas J NJ; Conen, David D; Palmer, Colin Neil Alexander CNA; Attia, John J; Chasman, Daniel I DI; Ridker, Paul M PM; Melander, Olle O; Mook-Kanamori, Dennis Owen DO; Harst, Pim van der PV; Cucca, Francesco F; Schlessinger, David D; Hayward, Caroline C; Spector, Tim D TD; Jarvelin, Marjo-Riitta MR; Hennig, Branwen J BJ; Timpson, Nicholas J NJ; Wei, Wei-Qi WQ; Smith, Joshua C JC; Xu, Yaomin Y; Matheny, Michael E ME; Siew, Edward E EE; Lindgren, Cecilia C; Herzig, Karl-Heinz KH; Dedoussis, George G; Denny, Joshua C JC; Psaty, Bruce M BM; Howson, Joanna M M JMM; Munroe, Patricia B PB; Newton-Cheh, Christopher C; Caulfield, Mark J MJ; Elliott, Paul P; Gaziano, J Michael JM; Concato, John J; Wilson, Peter W F PWF; Tsao, Philip S PS; Velez Edwards, Digna R DR; Susztak, Katalin K; , ; O'Donnell, Christopher J CJ; Hung, Adriana M AM; Edwards, Todd L TL

Publication Date: 2019-01

Variant appearance in text: rs2240716

PubMed Link: 30578418

Variant Present in the following documents:

• Main text
• nihms-1511350.pdf

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: ARVCF: 211-82G>A; rs2240716

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs2240716

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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