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: rs6990375

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: rs6990375

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

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UACA locus is associated with breast cancer chemoresistance and survival.

Npj Breast Cancer

Zhu, Qianqian Q; Schultz, Emily E; Long, Jirong J; Roh, Janise M JM; Valice, Emily E; Laurent, Cecile A CA; Radimer, Kelly H KH; Yan, Li L; Ergas, Isaac J IJ; Davis, Warren W; Ranatunga, Dilrini D; Gandhi, Shipra S; Kwan, Marilyn L ML; Bao, Ping-Ping PP; Zheng, Wei W; Shu, Xiao-Ou XO; Ambrosone, Christine C; Yao, Song S; Kushi, Lawrence H LH

Publication Date: 2022-03-23

Variant appearance in text: rs6990375

PubMed Link: 35322040

Variant Present in the following documents:

• Main text
• 41523_2022_Article_401.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: rs6990375

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Re-analysis of Genetic Risks for Chronic Fatigue Syndrome From 23andMe Data Finds Few Remain.

Frontiers In Pediatrics

Bedford, Felice L FL; Greshake Tzovaras, Bastian B

Publication Date: 2021

Variant appearance in text: rs6990375

PubMed Link: 33816394

Variant Present in the following documents:

• Main text
• fped-09-590040.pdf

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: rs6990375

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 1

View BVdb publication page

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A network analysis to identify mediators of germline-driven differences in breast cancer prognosis.

Nature Communications

Escala-Garcia, Maria M; Abraham, Jean J; Andrulis, Irene L IL; Anton-Culver, Hoda H; Arndt, Volker V; Ashworth, Alan A; Auer, Paul L PL; Auvinen, Päivi P; Beckmann, Matthias W MW; Beesley, Jonathan J; Behrens, Sabine S; Benitez, Javier J; Bermisheva, Marina M; Blomqvist, Carl C; Blot, William W; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Børresen-Dale, Anne-Lise AL; Brauch, Hiltrud H; Brenner, Hermann H; Brucker, Sara Y SY; Burwinkel, Barbara B; Caldas, Carlos C; Canzian, Federico F; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Chin, Suet-Feung SF; Clarke, Christine L CL; Couch, Fergus J FJ; Cox, Angela A; Cross, Simon S SS; Czene, Kamila K; Daly, Mary B MB; Dennis, Joe J; Devilee, Peter P; Dunn, Janet A JA; Dunning, Alison M AM; Dwek, Miriam M; Earl, Helena M HM; Eccles, Diana M DM; Eliassen, A Heather AH; Ellberg, Carolina C; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; Gago-Dominguez, Manuela M; Gapstur, Susan M SM; García-Closas, Montserrat M; García-Sáenz, José A JA; Gaudet, Mia M MM; George, Angela A; Giles, Graham G GG; Goldgar, David E DE; González-Neira, Anna A; Grip, Mervi M; Guénel, Pascal P; Guo, Qi Q; Haiman, Christopher A CA; Håkansson, Niclas N; Hamann, Ute U; Harrington, Patricia A PA; Hiller, Louise L; Hooning, Maartje J MJ; Hopper, John L JL; Howell, Anthony A; Huang, Chiun-Sheng CS; Huang, Guanmengqian G; Hunter, David J DJ; Jakubowska, Anna A; John, Esther M EM; Kaaks, Rudolf R; Kapoor, Pooja Middha PM; Keeman, Renske R; Kitahara, Cari M CM; Koppert, Linetta B LB; Kraft, Peter P; Kristensen, Vessela N VN; Lambrechts, Diether D; Le Marchand, Loic L; Lejbkowicz, Flavio F; Lindblom, Annika A; Lubiński, Jan J; Mannermaa, Arto A; Manoochehri, Mehdi M; Manoukian, Siranoush S; Margolin, Sara S; Martinez, Maria Elena ME; Maurer, Tabea T; Mavroudis, Dimitrios D; Meindl, Alfons A; Milne, Roger L RL; Mulligan, Anna Marie AM; Neuhausen, Susan L SL; Nevanlinna, Heli H; Newman, William G WG; Olshan, Andrew F AF; Olson, Janet E JE; Olsson, Håkan H; Orr, Nick N; Peterlongo, Paolo P; Petridis, Christos C; Prentice, Ross L RL; Presneau, Nadege N; Punie, Kevin K; Ramachandran, Dhanya D; Rennert, Gad G; Romero, Atocha A; Sachchithananthan, Mythily M; Saloustros, Emmanouil E; Sawyer, Elinor J EJ; Schmutzler, Rita K RK; Schwentner, Lukas L; Scott, Christopher C; Simard, Jacques J; Sohn, Christof C; Southey, Melissa C MC; Swerdlow, Anthony J AJ; Tamimi, Rulla M RM; Tapper, William J WJ; Teixeira, Manuel R MR; Terry, Mary Beth MB; Thorne, Heather H; Tollenaar, Rob A E M RAEM; Tomlinson, Ian I; Troester, Melissa A MA; Truong, Thérèse T; Turnbull, Clare C; Vachon, Celine M CM; van der Kolk, Lizet E LE; Wang, Qin Q; Winqvist, Robert R; Wolk, Alicja A; Yang, Xiaohong R XR; Ziogas, Argyrios A; Pharoah, Paul D P PDP; Hall, Per P; Wessels, Lodewyk F A LFA; Chenevix-Trench, Georgia G; Bader, Gary D GD; Dörk, Thilo T; Easton, Douglas F DF; Canisius, Sander S; Schmidt, Marjanka K MK

Publication Date: 2020-01-16

Variant appearance in text: rs6990375

PubMed Link: 31949161

Variant Present in the following documents:

• Main text
• 41467_2019_Article_14100.pdf

View BVdb publication page

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Genetics of recurrent pregnancy loss among Iranian population.

Molecular Genetics & Genomic Medicine

Moghbeli, Meysam M

Publication Date: 2019-09

Variant appearance in text: rs6990375

PubMed Link: 31364314

Variant Present in the following documents:

• Main text
• MGG3-7-e891.pdf

View BVdb publication page

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Genetic Predisposition for Immune System, Hormone, and Metabolic Dysfunction in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Pilot Study.

Frontiers In Pediatrics

Perez, Melanie M; Jaundoo, Rajeev R; Hilton, Kelly K; Del Alamo, Ana A; Gemayel, Kristina K; Klimas, Nancy G NG; Craddock, Travis J A TJA; Nathanson, Lubov L

Publication Date: 2019

Variant appearance in text: rs6990375

PubMed Link: 31179255

Variant Present in the following documents:

• Main text
• fped-07-00206.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: rs6990375

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Genetic variations in the SULF1 gene alter the risk of cervical cancer and precancerous lesions.

Oncology Letters

Dardiotis, Efthimios E; Siokas, Vasileios V; Garas, Antonios A; Paraskevaidis, Evangelos E; Kyrgiou, Maria M; Xiromerisiou, Georgia G; Deligeoroglou, Efthimios E; Galazios, Georgios G; Kontomanolis, Emmanuel N EN; Spandidos, Demetrios A DA; Tsatsakis, Aristidis A; Daponte, Alexandros A

Publication Date: 2018-09

Variant appearance in text: rs6990375

PubMed Link: 30127996

Variant Present in the following documents:

• Main text
• ol-16-03-3833.pdf

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs6990375

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs6990375

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, 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: rs6990375

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: rs6990375

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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SULF 1 gene polymorphism, rs6990375 is in significant association with fetus failure in IVF technique.

Iranian Journal Of Reproductive Medicine

Taghizadeh, Eskandar E; Kalantar, Seyed Mehdi SM; Mahdian, Reza R; Sheikhha, Mohammad Hasan MH; Farashahi-Yazd, Ehsan E; Ghasemi, Saeed S; Shahbazi, Zahra Z

Publication Date: 2015-04

Variant appearance in text: rs6990375

PubMed Link: 26131010

Variant Present in the following documents:

• Main text
• ijrm-13-215.pdf

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: rs6990375

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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The association of arylendosulfatase 1 (SULF1) gene polymorphism with recurrent miscarriage.

Journal Of Assisted Reproduction And Genetics

Zahraei, Mahnaz M; Sheikhha, Mohammad Hasan MH; Kalantar, Seyed Mehdi SM; Ghasemi, Nasrin N; Jahaninejad, Tahere T; Rajabi, Shokohe S; Mohammadpour, Hemn H

Publication Date: 2014-02

Variant appearance in text: rs6990375

PubMed Link: 24322345

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in the SULF1 gene are associated with early age of onset and survival of ovarian cancer.

Journal Of Experimental & Clinical Cancer Research : Cr

Han, Chan H CH; Huang, Yu-Jing YJ; Lu, Karen H KH; Liu, Zhensheng Z; Mills, Gordon B GB; Wei, Qingyi Q; Wang, Li-E LE

Publication Date: 2011-01-07

Variant appearance in text: rs6990375

PubMed Link: 21214932

Variant Present in the following documents:

• Main text
• 1756-9966-30-5.pdf

View BVdb publication page

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