Publications:

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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: rs4595905

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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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: rs4595905

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

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: rs4595905

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: rs4595905

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

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: rs4595905

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs4595905

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

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: rs4595905

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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Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors.

International Journal Of Cancer

Rudolph, Anja A; Milne, Roger L RL; Truong, Thérèse T; Knight, Julia A JA; Seibold, Petra P; Flesch-Janys, Dieter D; Behrens, Sabine S; Eilber, Ursula U; Bolla, Manjeet K MK; Wang, Qin Q; Dennis, Joe J; Dunning, Alison M AM; Shah, Mitul M; Munday, Hannah R HR; Darabi, Hatef H; Eriksson, Mikael M; Brand, Judith S JS; Olson, Janet J; Vachon, Celine M CM; Hallberg, Emily E; Castelao, J Esteban JE; Carracedo, Angel A; Torres, Maria M; Li, Jingmei J; Humphreys, Keith K; Cordina-Duverger, Emilie E; Menegaux, Florence F; Flyger, Henrik H; Nordestgaard, Børge G BG; Nielsen, Sune F SF; Yesilyurt, Betul T BT; Floris, Giuseppe G; Leunen, Karin K; Engelhardt, Ellen G EG; Broeks, Annegien A; Rutgers, Emiel J EJ; Glendon, Gord G; Mulligan, Anna Marie AM; Cross, Simon S; Reed, Malcolm M; Gonzalez-Neira, Anna A; Arias Perez, José Ignacio JI; Provenzano, Elena E; Apicella, Carmel C; Southey, Melissa C MC; Spurdle, Amanda A; , ; , ; Häberle, Lothar L; Beckmann, Matthias W MW; Ekici, Arif B AB; Dieffenbach, Aida Karina AK; Arndt, Volker V; Stegmaier, Christa C; McLean, Catriona C; Baglietto, Laura L; Chanock, Stephen J SJ; Lissowska, Jolanta J; Sherman, Mark E ME; Brüning, Thomas T; Hamann, Ute U; Ko, Yon-Dschun YD; Orr, Nick N; Schoemaker, Minouk M; Ashworth, Alan A; Kosma, Veli-Matti VM; Kataja, Vesa V; Hartikainen, Jaana M JM; Mannermaa, Arto A; Swerdlow, Anthony A; , ; Giles, Graham G GG; Brenner, Hermann H; Fasching, Peter A PA; Chenevix-Trench, Georgia G; Hopper, John J; Benítez, Javier J; Cox, Angela A; Andrulis, Irene L IL; Lambrechts, Diether D; Gago-Dominguez, Manuela M; Couch, Fergus F; Czene, Kamila K; Bojesen, Stig E SE; Easton, Doug F DF; Schmidt, Marjanka K MK; Guénel, Pascal P; Hall, Per P; Pharoah, Paul D P PD; Garcia-Closas, Montserrat M; Chang-Claude, Jenny J

Publication Date: 2015-03-15

Variant appearance in text: rs4595905

PubMed Link: 25227710

Variant Present in the following documents:

• Main text

View BVdb publication page

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