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: rs2302580

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs2302580

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.

Molecular Medicine Reports

Li, Yiqiang Y; Lin, Xuemei X; Zhu, Mingwei M; Li, Jingchun J; Yuan, Zhe Z; Xu, Hongwen H

Publication Date: 2020-09

Variant appearance in text: rs2302580

PubMed Link: 32705272

Variant Present in the following documents:

• Supplementary_Data1.xlsx, sheet 1

View BVdb publication page

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Association between polymorphism of the NEDD4 gene and cognitive dysfunction of schizophrenia patients in Chinese Han population.

Bmc Psychiatry

Han, Chao C; Cui, Kaiyan K; Bi, Xiaojiao X; Wang, Lina L; Sun, Mengmeng M; Yang, Limin L; Liu, Lanfen L

Publication Date: 2019-12-18

Variant appearance in text: rs2302580

PubMed Link: 31849325

Variant Present in the following documents:

• Main text
• 12888_2019_Article_2386.pdf

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs2302580

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

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: rs2302580

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

Journal Of The National Cancer Institute

Qian, Frank F; Wang, Shengfeng S; Mitchell, Jonathan J; McGuffog, Lesley L; Barrowdale, Daniel D; Leslie, Goska G; Oosterwijk, Jan C JC; Chung, Wendy K WK; Evans, D Gareth DG; Engel, Christoph C; Kast, Karin K; Aalfs, Cora M CM; Adank, Muriel A MA; Adlard, Julian J; Agnarsson, Bjarni A BA; Aittomäki, Kristiina K; Alducci, Elisa E; Andrulis, Irene L IL; Arun, Banu K BK; Ausems, Margreet G E M MGEM; Azzollini, Jacopo J; Barouk-Simonet, Emmanuelle E; Barwell, Julian J; Belotti, Muriel M; Benitez, Javier J; Berger, Andreas A; Borg, Ake A; Bradbury, Angela R AR; Brunet, Joan J; Buys, Saundra S SS; Caldes, Trinidad T; Caligo, Maria A MA; Campbell, Ian I; Caputo, Sandrine M SM; Chiquette, Jocelyne J; Claes, Kathleen B M KBM; Margriet Collée, J J; Couch, Fergus J FJ; Coupier, Isabelle I; Daly, Mary B MB; Davidson, Rosemarie R; Diez, Orland O; Domchek, Susan M SM; Donaldson, Alan A; Dorfling, Cecilia M CM; Eeles, Ros R; Feliubadaló, Lidia L; Foretova, Lenka L; Fowler, Jeffrey J; Friedman, Eitan E; Frost, Debra D; Ganz, Patricia A PA; Garber, Judy J; Garcia-Barberan, Vanesa V; Glendon, Gord G; Godwin, Andrew K AK; Gómez Garcia, Encarna B EB; Gronwald, Jacek J; Hahnen, Eric E; Hamann, Ute U; Henderson, Alex A; Hendricks, Carolyn B CB; Hopper, John L JL; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Ángel Á; Jakubowska, Anna A; Kaczmarek, Katarzyna K; Kang, Eunyoung E; Karlan, Beth Y BY; Kets, Carolien M CM; Kim, Sung-Won SW; Kim, Zisun Z; Kwong, Ava A; Laitman, Yael Y; Lasset, Christine C; Hyuk Lee, Min M; Won Lee, Jong J; Lee, Jihyoun J; Lester, Jenny J; Lesueur, Fabienne F; Loud, Jennifer T JT; Lubinski, Jan J; Mebirouk, Noura N; Meijers-Heijboer, Hanne E J HEJ; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Mooij, Thea M TM; Morrison, Patrick J PJ; Mouret-Fourme, Emmanuelle E; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Niederacher, Dieter D; Nielsen, Finn C FC; Nussbaum, Robert L RL; Offit, Kenneth K; Olah, Edith E; Ong, Kai-Ren KR; Ottini, Laura L; Park, Sue K SK; Peterlongo, Paolo P; Pfeiler, Georg G; Phelan, Catherine M CM; Poppe, Bruce B; Pradhan, Nisha N; Radice, Paolo P; Ramus, Susan J SJ; Rantala, Johanna J; Robson, Mark M; Rodriguez, Gustavo C GC; Schmutzler, Rita K RK; Hutten Selkirk, Christina G CG; Shah, Payal D PD; Simard, Jacques J; Singer, Christian F CF; Sokolowska, Johanna J; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Yen Tan, Yen Y; Teixeira, R Manuel RM; Teo, Soo H SH; Terry, Mary Beth MB; Thomassen, Mads M; Tischkowitz, Marc M; Toland, Amanda E AE; Tucker, Katherine M KM; Tung, Nadine N; van Asperen, Christi J CJ; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Wang-Gohrke, Shan S; Wappenschmidt, Barbara B; Weitzel, Jeffrey N JN; Yannoukakos, Drakoulis D; , ; , ; , ; Greene, Mark H MH; Rookus, Matti A MA; Easton, Douglas F DF; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Goldgar, David E DE; Olopade, Olufunmilayo I OI; Rebbeck, Timothy R TR; Huo, Dezheng D

Publication Date: 2019-04-01

Variant appearance in text: rs2302580

PubMed Link: 30312457

Variant Present in the following documents:

• Main text

View BVdb publication page

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Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank.

Bmj (Clinical Research Ed.)

Tyrrell, Jessica J; Jones, Samuel E SE; Beaumont, Robin R; Astley, Christina M CM; Lovell, Rebecca R; Yaghootkar, Hanieh H; Tuke, Marcus M; Ruth, Katherine S KS; Freathy, Rachel M RM; Hirschhorn, Joel N JN; Wood, Andrew R AR; Murray, Anna A; Weedon, Michael N MN; Frayling, Timothy M TM

Publication Date: 2016-03-08

Variant appearance in text: rs2302580

PubMed Link: 26956984

Variant Present in the following documents:

• tyrj029564.ww1_default.pdf

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs2302580

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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