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Germline Genetic Features of Young Individuals With Colorectal Cancer
Stoffel, Elena M., Koeppe, Erika, Everett, Jessica, Ulintz, Peter, Kiel, Mark, Osborne, Jenae, Williams, Linford, Hanson, Kristen, Gruber, Stephen B., Rozek, Laura S.
Published in Gastroenterology (New York, N.Y. 1943) (01.03.2018)
Published in Gastroenterology (New York, N.Y. 1943) (01.03.2018)
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Journal Article
RAS mutation analysis in circulating tumor DNA from patients with metastatic colorectal cancer: the AGEO RASANC prospective multicenter study
Bachet, J.B., Bouché, O., Taieb, J., Dubreuil, O., Garcia, M.L., Meurisse, A., Normand, C., Gornet, J.M., Artru, P., Louafi, S., Bonnetain, F., Thirot-Bidault, A., Baumgaertner, I., Coriat, R., Tougeron, D., Lecomte, T., Mary, F., Aparicio, T., Marthey, L., Taly, V., Blons, H., Vernerey, D., Laurent-Puig, P.
Published in Annals of oncology (01.05.2018)
Published in Annals of oncology (01.05.2018)
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Journal Article
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Bilgüvar, Kaya, Öztürk, Ali Kemal, Louvi, Angeliki, Kwan, Kenneth Y., Choi, Murim, Tatlı, Burak, Yalnızoğlu, Dilek, Tüysüz, Beyhan, Çağlayan, Ahmet Okay, Gökben, Sarenur, Kaymakçalan, Hande, Barak, Tanyeri, Bakırcıoğlu, Mehmet, Yasuno, Katsuhito, Ho, Winson, Sanders, Stephan, Zhu, Ying, Yılmaz, Sanem, Dinçer, Alp, Johnson, Michele H., Bronen, Richard A., Koçer, Naci, Per, Hüseyin, Mane, Shrikant, Pamir, Mehmet Necmettin, Yalçınkaya, Cengiz, Kumandaş, Sefer, Topçu, Meral, Özmen, Meral, Šestan, Nenad, Lifton, Richard P., State, Matthew W., Günel, Murat
Published in Nature (London) (09.09.2010)
Published in Nature (London) (09.09.2010)
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Journal Article
Mutational signatures of DNA mismatch repair deficiency in C. elegans and human cancers
Meier, Bettina, Volkova, Nadezda V., Hong, Ye, Schofield, Pieta, Campbell, Peter J., Gerstung, Moritz, Gartner, Anton
Published in Genome research (01.05.2018)
Published in Genome research (01.05.2018)
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Journal Article
Circulating mutant DNA to assess tumor dynamics
Diehl, Frank, Schmidt, Kerstin, Choti, Michael A, Romans, Katharine, Goodman, Steven, Li, Meng, Thornton, Katherine, Agrawal, Nishant, Sokoll, Lori, Szabo, Steve A, Kinzler, Kenneth W, Vogelstein, Bert, Diaz Jr, Luis A
Published in Nature medicine (01.09.2008)
Published in Nature medicine (01.09.2008)
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Journal Article
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants
Lenassi, Eva, Vincent, Ajoy, Li, Zheng, Saihan, Zubin, Coffey, Alison J, Steele-Stallard, Heather B, Moore, Anthony T, Steel, Karen P, Luxon, Linda M, Héon, Elise, Bitner-Glindzicz, Maria, Webster, Andrew R
Published in European journal of human genetics : EJHG (01.10.2015)
Published in European journal of human genetics : EJHG (01.10.2015)
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Journal Article
The feasibility of using mutation detection in ctDNA to assess tumor dynamics
Yi, Xin, Ma, Jianhui, Guan, Yanfang, Chen, Rongrong, Yang, Ling, Xia, Xuefeng
Published in International journal of cancer (15.06.2017)
Published in International journal of cancer (15.06.2017)
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Journal Article
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease
Neumann, Juliane, Bras, Jose, Deas, Emma, O'Sullivan, Sean S., Parkkinen, Laura, Lachmann, Robin H., Li, Abi, Holton, Janice, Guerreiro, Rita, Paudel, Reema, Segarane, Badmavady, Singleton, Andrew, Lees, Andrew, Hardy, John, Houlden, Henry, Revesz, Tamas, Wood, Nicholas W.
Published in Brain (London, England : 1878) (01.07.2009)
Published in Brain (London, England : 1878) (01.07.2009)
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Journal Article
Clinical features and biological implications of different U2AF1 mutation types in myelodysplastic syndromes
Li, Bing, Liu, Jinqin, Jia, Yujiao, Wang, Jingya, Xu, Zefeng, Qin, Tiejun, Shi, Zhongxun, Song, Zhen, Peng, Shuailing, Huang, Huijun, Fang, Liwei, Zhang, Hongli, Pan, Lijuan, Hu, Naibo, Qu, Shiqiang, Zhang, Yue, Wu, Jian, Liu, Na, Ru, Kun, Huang, Gang, Xiao, Zhijian
Published in Genes chromosomes & cancer (01.02.2018)
Published in Genes chromosomes & cancer (01.02.2018)
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Journal Article
A deep learning approach to automate refinement of somatic variant calling from cancer sequencing data
Ainscough, Benjamin J., Barnell, Erica K., Ronning, Peter, Campbell, Katie M., Wagner, Alex H., Fehniger, Todd A., Dunn, Gavin P., Uppaluri, Ravindra, Govindan, Ramaswamy, Rohan, Thomas E., Griffith, Malachi, Mardis, Elaine R., Swamidass, S. Joshua, Griffith, Obi L.
Published in Nature genetics (01.12.2018)
Published in Nature genetics (01.12.2018)
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Journal Article
Evaluation of turnaround times and performance of in-house ChromaCode high-definition PCR compared to send-out next-generation sequencing in non–small cell lung cancer
Hogarth, Nathan C, Al-Kawaaz, Mustafa, Linder, Mark W
Published in American journal of clinical pathology (01.08.2025)
Published in American journal of clinical pathology (01.08.2025)
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Journal Article
Genetic variation in catechol‐O‐methyltransferase is associated with individual differences in conditioned pain modulation in healthy subjects
Korczeniewska, Olga A., Kuo, Fengshen, Huang, Ching‐Yu, Nasri‐Heir, Cibele, Khan, Junad, Benoliel, Rafael, Hirschberg, Craig, Eliav, Eli, Diehl, Scott R.
Published in The journal of gene medicine (01.11.2021)
Published in The journal of gene medicine (01.11.2021)
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Journal Article
Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery
Parry, Susan, Win, Aung Ko, Parry, Bryan, Macrae, Finlay A, Gurrin, Lyle C, Church, James M, Baron, John A, Giles, Graham G, Leggett, Barbara A, Winship, Ingrid, Lipton, Lara, Young, Graeme P, Young, Joanne P, Lodge, Caroline J, Southey, Melissa C, Newcomb, Polly A, Le Marchand, Loïc, Haile, Robert W, Lindor, Noralane M, Gallinger, Steven, Hopper, John L, Jenkins, Mark A
Published in Gut (01.07.2011)
Published in Gut (01.07.2011)
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Journal Article
Bioinformatics and DNA-extraction strategies to reliably detect genetic variants from FFPE breast tissue samples
Bhagwate, Aditya Vijay, Liu, Yuanhang, Winham, Stacey J., McDonough, Samantha J., Stallings-Mann, Melody L., Heinzen, Ethan P., Davila, Jaime I., Vierkant, Robert A., Hoskin, Tanya L., Frost, Marlene, Carter, Jodi M., Radisky, Derek C., Cunningham, Julie M., Degnim, Amy C., Wang, Chen
Published in BMC genomics (02.09.2019)
Published in BMC genomics (02.09.2019)
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Journal Article
PIK3CA mutation enrichment and quantitation from blood and tissue
Keraite, Ieva, Alvarez-Garcia, Virginia, Garcia-Murillas, Isaac, Beaney, Matthew, Turner, Nicholas C., Bartos, Clare, Oikonomidou, Olga, Kersaudy-Kerhoas, Maïwenn, Leslie, Nicholas R.
Published in Scientific reports (13.10.2020)
Published in Scientific reports (13.10.2020)
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Journal Article
Comprehensive Mutation Analysis by Whole-Exome Sequencing in 41 Chinese Families With Leber Congenital Amaurosis
Chen, Yabin, Zhang, Qingyan, Shen, Tao, Xiao, Xueshan, Li, Shiqiang, Guan, Liping, Zhang, Jianguo, Zhu, Zhihong, Yin, Ye, Wang, Panfeng, Guo, Xiangming, Wang, Jun, Zhang, Qingjiong
Published in Investigative ophthalmology & visual science (26.06.2013)
Published in Investigative ophthalmology & visual science (26.06.2013)
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Journal Article
Novel WEE2 gene variants identified in patients with fertilization failure and female infertility
Zhao, Shuai, Chen, Tailai, Yu, Mengru, Bian, Yuehong, Cao, Yongzhi, Ning, Yunna, Su, Shizhen, Zhang, Jiangtao, Zhao, Shigang
Published in Fertility and sterility (01.03.2019)
Published in Fertility and sterility (01.03.2019)
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Journal Article
Patient-centric thresholding of Cobas® EGFR mutation Test v2 for surveillance of EGFR-mutated metastatic non-small cell lung cancer
Claus, Jonas, De Smet, Dieter, Breyne, Joke, Wesolowski, Janusz, Himpe, Ulrike, Demedts, Ingel, Martens, Geert A.
Published in Scientific reports (06.08.2024)
Published in Scientific reports (06.08.2024)
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Journal Article
Brain-Derived Neurotrophic Factor–5-HTTLPR Gene Interactions and Environmental Modifiers of Depression in Children
Kaufman, Joan, Yang, Bao-Zhu, Douglas-Palumberi, Heather, Grasso, Damion, Lipschitz, Deborah, Houshyar, Shadi, Krystal, John H., Gelernter, Joel
Published in Biological psychiatry (1969) (15.04.2006)
Published in Biological psychiatry (1969) (15.04.2006)
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Journal Article
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families
Brownstein, Zippora, Friedman, Lilach M, Shahin, Hashem, Oron-Karni, Varda, Kol, Nitzan, Rayyan, Amal Abu, Parzefall, Thomas, Lev, Dorit, Shalev, Stavit, Frydman, Moshe, Davidov, Bella, Shohat, Mordechai, Rahile, Michele, Lieberman, Sari, Levy-Lahad, Ephrat, Lee, Ming K, Shomron, Noam, King, Mary-Claire, Walsh, Tom, Kanaan, Moien, Avraham, Karen B
Published in Genome biology (14.09.2011)
Published in Genome biology (14.09.2011)
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Journal Article