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: rs1894400

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: FES: 387+140C>T; rs1894400

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

View BVdb publication page

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The causal association between maternal smoking around birth on childhood asthma: A Mendelian randomization study.

Frontiers In Public Health

Ding, Zijun Z; Pang, Lei L; Chai, Hongqiang H; Li, Fei F; Wu, Ming M

Publication Date: 2022

Variant appearance in text: rs1894400

PubMed Link: 36408054

Variant Present in the following documents:

• Main text
• fpubh-10-1059195.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: rs1894400

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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Shared genetic etiology and causality between body fat percentage and cardiovascular diseases: a large-scale genome-wide cross-trait analysis.

Bmc Medicine

Zhuang, Zhenhuang Z; Yao, Minhao M; Wong, Jason Y Y JYY; Liu, Zhonghua Z; Huang, Tao T

Publication Date: 2021-04-29

Variant appearance in text: rs1894400

PubMed Link: 33910581

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: FES: 387+140C>T; rs1894400

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2
• CNR2-4-e1335-s003.xlsx, sheet 1

View BVdb publication page

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Systems Genetics in Human Endothelial Cells Identifies Non-coding Variants Modifying Enhancers, Expression, and Complex Disease Traits.

American Journal Of Human Genetics

Stolze, Lindsey K LK; Conklin, Austin C AC; Whalen, Michael B MB; López Rodríguez, Maykel M; Õunap, Kadri K; Selvarajan, Ilakya I; Toropainen, Anu A; Örd, Tiit T; Li, Jin J; Eshghi, Anna A; Solomon, Alice E AE; Fang, Yun Y; Kaikkonen, Minna U MU; Romanoski, Casey E CE

Publication Date: 2020-06-04

Variant appearance in text: rs1894400

PubMed Link: 32442411

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of Birth Weight With Type 2 Diabetes and Glycemic Traits: A Mendelian Randomization Study.

Jama Network Open

, ; Huang, Tao T; Wang, Tiange T; Zheng, Yan Y; Ellervik, Christina C; Li, Xiang X; Gao, Meng M; Fang, Zhe Z; Chai, Jin-Fang JF; Ahluwalia, Tarun Veer S TVS; Wang, Yujie Y; Voortman, Trudy T; Noordam, Raymond R; Frazier-Wood, Alexis A; Scholz, Markus M; Sonestedt, Emily E; Akiyama, Masato M; Dorajoo, Rajkumar R; Zhou, Ang A; Kilpeläinen, Tuomas O TO; Kleber, Marcus E ME; Crozier, Sarah R SR; Godfrey, Keith M KM; Lemaitre, Rozenn R; Felix, Janine F JF; Shi, Yuan Y; Gupta, Preeti P; Khor, Chiea-Chuen CC; Lehtimäki, Terho T; Wang, Carol A CA; Tiesler, Carla M T CMT; Thiering, Elisabeth E; Standl, Marie M; Rzehak, Peter P; Marouli, Eirini E; He, Meian M; Lecoeur, Cécile C; Corella, Dolores D; Lai, Chao-Qiang CQ; Moreno, Luis A LA; Pitkänen, Niina N; Boreham, Colin A CA; Zhang, Tao T; Saw, Seang Mei SM; Ridker, Paul M PM; Graff, Mariaelisa M; van Rooij, Frank J A FJA; Uitterlinden, Andre G AG; Hofman, Albert A; van Heemst, Diana D; Rosendaal, Frits R FR; de Mutsert, Renée R; Burkhardt, Ralph R; Schulz, Christina-Alexandra CA; Ericson, Ulrika U; Kamatani, Yoichiro Y; Yuan, Jian-Min JM; Power, Chris C; Hansen, Torben T; Sørensen, Thorkild I A TIA; Tjønneland, Anne A; Overvad, Kim K; Delgado, Graciela G; Cooper, Cyrus C; Djousse, Luc L; Rivadeneira, Fernando F; Jameson, Karen K; Zhao, Wanting W; Liu, Jianjun J; Lee, Nanette R NR; Raitakari, Olli O; Kähönen, Mika M; Viikari, Jorma J; Grote, Veit V; Langhendries, Jean-Paul JP; Koletzko, Berthold B; Escribano, Joaquin J; Verduci, Elvira E; Dedoussis, George G; Yu, Caizheng C; Tham, Yih Chung YC; Lim, Blanche B; Lim, Sing Hui SH; Froguel, Philippe P; Balkau, Beverley B; Fink, Nadia R NR; Vinding, Rebecca K RK; Sevelsted, Astrid A; Bisgaard, Hans H; Coltell, Oscar O; Dallongeville, Jean J; Gottrand, Frédéric F; Pahkala, Katja K; Niinikoski, Harri H; Hyppönen, Elina E; Pedersen, Oluf O; März, Winfried W; Inskip, Hazel H; Jaddoe, Vincent W V VWV; Dennison, Elaine E; Wong, Tien Yin TY; Sabanayagam, Charumathi C; Tai, E-Shyong ES; Mohlke, Karen L KL; Mackey, David A DA; Gruszfeld, Dariusz D; Deloukas, Panagiotis P; Tucker, Katherine L KL; Fumeron, Frédéric F; Bønnelykke, Klaus K; Rossing, Peter P; Estruch, Ramon R; Ordovas, Jose M JM; Arnett, Donna K DK; Meirhaeghe, Aline A; Amouyel, Philippe P; Cheng, Ching-Yu CY; Sim, Xueling X; Teo, Yik Ying YY; van Dam, Rob M RM; Koh, Woon-Puay WP; Orho-Melander, Marju M; Loeffler, Markus M; Kubo, Michiaki M; Thiery, Joachim J; Mook-Kanamori, Dennis O DO; Mozaffarian, Dariush D; Psaty, Bruce M BM; Franco, Oscar H OH; Wu, Tangchun T; North, Kari E KE; Davey Smith, George G; Chavarro, Jorge E JE; Chasman, Daniel I DI; Qi, Lu L

Publication Date: 2019-09-04

Variant appearance in text: rs1894400

PubMed Link: 31539074

Variant Present in the following documents:

• jamanetwopen-2-e1910915-s001.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: FES: 387+140C>T; rs1894400

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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