Publications:

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The mitochondrial genome as a modifier of autism versus cancer phenotypes in PTEN hamartoma tumor syndrome.

Hgg Advances

Wei, Ruipeng R; Yehia, Lamis L; Ni, Ying Y; Eng, Charis C

Publication Date: 2023-07-13

Variant appearance in text: 225: A239T

PubMed Link: 37216009

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Spatial genomic diversity associated with APOBEC mutagenesis in squamous cell carcinoma arising from ovarian teratoma.

Cancer Science

Tamura, Ryo R; Nakaoka, Hirofumi H; Yachida, Nozomi N; Ueda, Haruka H; Ishiguro, Tatsuya T; Motoyama, Teiichi T; Inoue, Ituro I; Enomoto, Takayuki T; Yoshihara, Kosuke K

Publication Date: 2023-02-10

Variant appearance in text: 225: 715G>A

PubMed Link: 36762791

Variant Present in the following documents:

• CAS-114-2145-s001.xlsx, sheet 6

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: 225: 715G>A

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: 225: 715G>A

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: 225: A239T

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: 225: A239T

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: 225: A239T

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 6

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: 225: A239T

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 6
• mmc2.xlsx, sheet 3

View BVdb publication page

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EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.

European Journal Of Human Genetics : Ejhg

Baumgartner-Parzer, Sabina S; Witsch-Baumgartner, Martina M; Hoeppner, Wolfgang W

Publication Date: 2020-10

Variant appearance in text: 225: 715G>A

PubMed Link: 32616876

Variant Present in the following documents:

• Main text
• 41431_2020_Article_653.pdf

View BVdb publication page

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AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics

Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M

Publication Date: 2020-02-04

Variant appearance in text: 225: 715G>A

PubMed Link: 32019565

Variant Present in the following documents:

• 12920_2020_668_MOESM6_ESM.xls, sheet 1
• 12920_2020_668_MOESM5_ESM.xls, sheet 1

View BVdb publication page

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Neuroinflammation as a Common Feature of Neurodegenerative Disorders.

Frontiers In Pharmacology

Guzman-Martinez, Leonardo L; Maccioni, Ricardo B RB; Andrade, Víctor V; Navarrete, Leonardo Patricio LP; Pastor, María Gabriela MG; Ramos-Escobar, Nicolas N

Publication Date: 2019

Variant appearance in text: 225: Ala239Thr

PubMed Link: 31572186

Variant Present in the following documents:

• fphar-10-01008.pdf

View BVdb publication page

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Patient-derived lung cancer organoids as in vitro cancer models for therapeutic screening.

Nature Communications

Kim, Minsuh M; Mun, Hyemin H; Sung, Chang Oak CO; Cho, Eun Jeong EJ; Jeon, Hye-Joon HJ; Chun, Sung-Min SM; Jung, Da Jung DJ; Shin, Tae Hoon TH; Jeong, Gi Seok GS; Kim, Dong Kwan DK; Choi, Eun Kyung EK; Jeong, Seong-Yun SY; Taylor, Alison M AM; Jain, Sejal S; Meyerson, Matthew M; Jang, Se Jin SJ

Publication Date: 2019-09-05

Variant appearance in text: 225: 715G>A

PubMed Link: 31488816

Variant Present in the following documents:

• 41467_2019_11867_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Transcriptomic signature reveals mechanism of flower bud distortion in witches'-broom disease of soybean (Glycine max).

Bmc Plant Biology

Jaiswal, Sarika S; Jadhav, Pravin V PV; Jasrotia, Rahul Singh RS; Kale, Prashant B PB; Kad, Snehal K SK; Moharil, Mangesh P MP; Dudhare, Mahendra S MS; Kheni, Jashminkumar J; Deshmukh, Amit G AG; Mane, Shyamsundar S SS; Nandanwar, Ravindra S RS; Penna, Suprasanna S; Manjaya, Joy G JG; Iquebal, Mir Asif MA; Tomar, Rukam Singh RS; Kawar, Prashant G PG; Rai, Anil A; Kumar, Dinesh D

Publication Date: 2019-01-15

Variant appearance in text: 225: 715G>A

PubMed Link: 30646861

Variant Present in the following documents:

• 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: 225: 715G>A

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s7.xlsx, sheet 3

View BVdb publication page

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IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.

Nature Communications

Momozawa, Yukihide Y; Dmitrieva, Julia J; Théâtre, Emilie E; Deffontaine, Valérie V; Rahmouni, Souad S; Charloteaux, Benoît B; Crins, François F; Docampo, Elisa E; Elansary, Mahmoud M; Gori, Ann-Stephan AS; Lecut, Christelle C; Mariman, Rob R; Mni, Myriam M; Oury, Cécile C; Altukhov, Ilya I; Alexeev, Dmitry D; Aulchenko, Yuri Y; Amininejad, Leila L; Bouma, Gerd G; Hoentjen, Frank F; Löwenberg, Mark M; Oldenburg, Bas B; Pierik, Marieke J MJ; Vander Meulen-de Jong, Andrea E AE; Janneke van der Woude, C C; Visschedijk, Marijn C MC; , ; Lathrop, Mark M; Hugot, Jean-Pierre JP; Weersma, Rinse K RK; De Vos, Martine M; Franchimont, Denis D; Vermeire, Severine S; Kubo, Michiaki M; Louis, Edouard E; Georges, Michel M

Publication Date: 2018-06-21

Variant appearance in text: 225: Ala239Thr

PubMed Link: 29930244

Variant Present in the following documents:

• 41467_2018_4365_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: 225: 715G>A

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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PSEN1 L226F mutation in a patient with early-onset Alzheimer's disease in Korea.

Clinical Interventions In Aging

Bagyinszky, Eva E; Park, Sun Ah SA; Kim, Hyung Jun HJ; Choi, Seong Hye SH; An, Seong Soo A SS; Kim, Sang Yun SY

Publication Date: 2016

Variant appearance in text: 225: A239T

PubMed Link: 27785004

Variant Present in the following documents:

• cia-11-1433.pdf

View BVdb publication page

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Tau deposition drives neuropathological, inflammatory and behavioral abnormalities independently of neuronal loss in a novel mouse model.

Human Molecular Genetics

Cook, Casey C; Kang, Silvia S SS; Carlomagno, Yari Y; Lin, Wen-Lang WL; Yue, Mei M; Kurti, Aishe A; Shinohara, Mitsuru M; Jansen-West, Karen K; Perkerson, Emilie E; Castanedes-Casey, Monica M; Rousseau, Linda L; Phillips, Virginia V; Bu, Guojun G; Dickson, Dennis W DW; Petrucelli, Leonard L; Fryer, John D JD

Publication Date: 2015-11-01

Variant appearance in text: 225: Ala239Thr

PubMed Link: 26276810

Variant Present in the following documents:

• ddv336.pdf

View BVdb publication page

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Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer.

Elife

Ju, Young Seok YS; Alexandrov, Ludmil B LB; Gerstung, Moritz M; Martincorena, Inigo I; Nik-Zainal, Serena S; Ramakrishna, Manasa M; Davies, Helen R HR; Papaemmanuil, Elli E; Gundem, Gunes G; Shlien, Adam A; Bolli, Niccolo N; Behjati, Sam S; Tarpey, Patrick S PS; Nangalia, Jyoti J; Massie, Charles E CE; Butler, Adam P AP; Teague, Jon W JW; Vassiliou, George S GS; Green, Anthony R AR; Du, Ming-Qing MQ; Unnikrishnan, Ashwin A; Pimanda, John E JE; Teh, Bin Tean BT; Munshi, Nikhil N; Greaves, Mel M; Vyas, Paresh P; El-Naggar, Adel K AK; Santarius, Tom T; Collins, V Peter VP; Grundy, Richard R; Taylor, Jack A JA; Hayes, D Neil DN; Malkin, David D; , ; , ; , ; Foster, Christopher S CS; Warren, Anne Y AY; Whitaker, Hayley C HC; Brewer, Daniel D; Eeles, Rosalind R; Cooper, Colin C; Neal, David D; Visakorpi, Tapio T; Isaacs, William B WB; Bova, G Steven GS; Flanagan, Adrienne M AM; Futreal, P Andrew PA; Lynch, Andy G AG; Chinnery, Patrick F PF; McDermott, Ultan U; Stratton, Michael R MR; Campbell, Peter J PJ

Publication Date: 2014-10-01

Variant appearance in text: 225: A239T

PubMed Link: 25271376

Variant Present in the following documents:

• elife02935s002.xlsx, sheet 1

View BVdb publication page

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Gender-stratified gene and gene-treatment interactions in smoking cessation.

The Pharmacogenomics Journal

Lee, W W; Bergen, A W AW; Swan, G E GE; Li, D D; Liu, J J; Thomas, P P; Tyndale, R F RF; Benowitz, N L NL; Lerman, C C; Conti, D V DV

Publication Date: 2012-12

Variant appearance in text: 225: A239T

PubMed Link: 21808284

Variant Present in the following documents:

• NIHMS305090-supplement-3.pdf

View BVdb publication page

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