Publications:

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Personalized prediction of the secondary oocytes number after ovarian stimulation: A machine learning model based on clinical and genetic data.

Plos Computational Biology

Zieliński, Krystian K; Pukszta, Sebastian S; Mickiewicz, Małgorzata M; Kotlarz, Marta M; Wygocki, Piotr P; Zieleń, Marcin M; Drzewiecka, Dominika D; Drzyzga, Damian D; Kloska, Anna A; Jakóbkiewicz-Banecka, Joanna J

Publication Date: 2023-04

Variant appearance in text: rs2207396

PubMed Link: 37104276

Variant Present in the following documents:

• Main text
• pcbi.1011020.pdf

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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: rs2207396

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs2207396

PubMed Link: 36269797

Variant Present in the following documents:

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

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Glucose-Related Traits and Risk of Migraine-A Potential Mechanism and Treatment Consideration.

Genes

Islam, Md Rafiqul MR; Nyholt, Dale R DR

Publication Date: 2022-04-22

Variant appearance in text: rs2207396

PubMed Link: 35627115

Variant Present in the following documents:

• Main text
• genes-13-00730.pdf

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: ESR1: 1369+123G>A

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

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Current and coming challenges in the management of the survivorship population.

Seminars In Oncology

Chow, Eric J EJ; Ness, Kirsten K KK; Armstrong, Gregory T GT; Bhakta, Nickhill N; Yeh, Jennifer M JM; Bhatia, Smita S; Landier, Wendy W; Constine, Louis S LS; Hudson, Melissa M MM; Nathan, Paul C PC

Publication Date: 2020-02

Variant appearance in text: rs2207396

PubMed Link: 32197774

Variant Present in the following documents:

• Main text

View BVdb publication page

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Influence of Genetic Variants on Steady-State Etonogestrel Concentrations Among Contraceptive Implant Users.

Obstetrics And Gynecology

Lazorwitz, Aaron A; Aquilante, Christina L CL; Oreschak, Kris K; Sheeder, Jeanelle J; Guiahi, Maryam M; Teal, Stephanie S

Publication Date: 2019-04

Variant appearance in text: rs2207396

PubMed Link: 30870275

Variant Present in the following documents:

• Main text

View BVdb publication page

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SeqVItA: Sequence Variant Identification and Annotation Platform for Next Generation Sequencing Data.

Frontiers In Genetics

Dharanipragada, Prashanthi P; Seelam, Sampreeth Reddy SR; Parekh, Nita N

Publication Date: 2018

Variant appearance in text: rs2207396

PubMed Link: 30487811

Variant Present in the following documents:

• Main text
• fgene-09-00537.pdf

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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: ESR1: 1369+123G>A; rs2207396

PubMed Link: 30319441

Variant Present in the following documents:

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

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Network analysis identifies common genes associated with obesity in six obesity-related diseases.

Journal Of Zhejiang University. Science. B

Su, Li-Ning LN; Wang, Yan-Bing YB; Wnag, Chun-Guang CG; Wei, Hui-Ping HP

Publication Date: 2017

Variant appearance in text: rs2207396

PubMed Link: 28786249

Variant Present in the following documents:

• Main text

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Predicting diabetes mellitus genes via protein-protein interaction and protein subcellular localization information.

Bmc Genomics

Tang, Xiwei X; Hu, Xiaohua X; Yang, Xuejun X; Fan, Yetian Y; Li, Yongfan Y; Hu, Wei W; Liao, Yongzhong Y; Zheng, Ming Cai MC; Peng, Wei W; Gao, Li L

Publication Date: 2016-08-18

Variant appearance in text: rs2207396

PubMed Link: 27535125

Variant Present in the following documents:

• Main text
• 12864_2016_Article_2795.pdf

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: rs2207396

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.

Nature Communications

Lindström, Sara S; Thompson, Deborah J DJ; Paterson, Andrew D AD; Li, Jingmei J; Gierach, Gretchen L GL; Scott, Christopher C; Stone, Jennifer J; Douglas, Julie A JA; dos-Santos-Silva, Isabel I; Fernandez-Navarro, Pablo P; Verghase, Jajini J; Smith, Paula P; Brown, Judith J; Luben, Robert R; Wareham, Nicholas J NJ; Loos, Ruth J F RJ; Heit, John A JA; Pankratz, V Shane VS; Norman, Aaron A; Goode, Ellen L EL; Cunningham, Julie M JM; deAndrade, Mariza M; Vierkant, Robert A RA; Czene, Kamila K; Fasching, Peter A PA; Baglietto, Laura L; Southey, Melissa C MC; Giles, Graham G GG; Shah, Kaanan P KP; Chan, Heang-Ping HP; Helvie, Mark A MA; Beck, Andrew H AH; Knoblauch, Nicholas W NW; Hazra, Aditi A; Hunter, David J DJ; Kraft, Peter P; Pollan, Marina M; Figueroa, Jonine D JD; Couch, Fergus J FJ; Hopper, John L JL; Hall, Per P; Easton, Douglas F DF; Boyd, Norman F NF; Vachon, Celine M CM; Tamimi, Rulla M RM

Publication Date: 2014-10-24

Variant appearance in text: rs2207396

PubMed Link: 25342443

Variant Present in the following documents:

• NIHMS629503-supplement-1.pdf

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: rs2207396

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

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Estrogen receptor α variants affect age at onset of Alzheimer's disease in a multiethnic female cohort.

Dementia And Geriatric Cognitive Disorders

Janicki, S C SC; Park, N N; Cheng, R R; Clark, L N LN; Lee, J H JH; Schupf, N N

Publication Date: 2014

Variant appearance in text: rs2207396

PubMed Link: 24732579

Variant Present in the following documents:

• Main text

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Association of variants in estrogen-related pathway genes with prostate cancer risk.

The Prostate

Holt, Sarah K SK; Kwon, Erika M EM; Fu, Rong R; Kolb, Suzanne S; Feng, Ziding Z; Ostrander, Elaine A EA; Stanford, Janet L JL

Publication Date: 2013-01

Variant appearance in text: rs2207396

PubMed Link: 22549291

Variant Present in the following documents:

• Main text

View BVdb publication page

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