日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Urgent need to recognize that Disease-Causing TP53 variants with atypical penetrance require distinct clinical recommendations

迫切需要认识到,具有非典型外显率的致病性TP53变异需要不同的临床建议。

Kratz, Christian P; Frone, Megan N; Khincha, Payal P; Hatton, Jessica N; Penkert, Judith; James, Paul A; Spurdle, Amanda B; Fortuno, Cristina

Cancer risk in adults with pathogenic germline variants in RAS/MAPK genes using genomic ascertainment

利用基因组检测方法评估携带 RAS/MAPK 基因致病性种系变异的成年人的癌症风险

Kim, Jung; Ney, Gina; Frone, Megan N; Haley, Jeremy S; Ramos, Mark L; Mirshahi, Uyenlinh L; Astiazaran-Symonds, Esteban; Shandrina, Mariya; Urban, Gretchen; Rao, H Shanker; Stahl, Rick; Golden, Alicia; Yohe, Marielle E; Gross, Andrea M; Ding, Yi; Carey, David J; Gelb, Bruce D; Stewart, Douglas R

Wide Ranging Neurobehavioral Phenotype in Individuals With Costello Syndrome

科斯特洛综合征患者广泛的神经行为表型

Curlee, Millicent S; Siegel, Atara; Little, Paige; Toledo-Tamula, Mary Anne; Martin, Staci; Gross, Andrea M; Yohe, Marielle E; Aryavand, Margarita; Frone, Megan N; Ney, Gina M; Stewart, Douglas R; Wolters, Pamela L

A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome

基于贝叶斯方法的定量基因特异性变异分类:更新的专家组建议改进了李-弗劳梅尼综合征TP53种系变异的分类。

Fortuno, Cristina; Frone, Megan N; Mester, Jessica; de la Hoya, Miguel; Mai, Phuong L; Pesaran, Tina; Achatz, Maria Isabel; Bassett, Rebecca; Bustamante, Carolina; Crowley, Stephanie; de Andrade, Kelvin Cesar; Evans, D Gareth; Feng, Bingjian; Fuqua, Laura; Harrell, Maria Isabel; Hatton, Jessica N; Huether, Robert; Kesserwan, Chimene; Lee, Kristy; MacFarland, Suzanne P; Maciaszek, Jamie L; Maxwell, Kara; McGoldrick, Kelly; Murphy, Maureen; Nehoray, Bita; Penkert, Judith; Pinto, Emilia Modolo; Plon, Sharon E; Schwartz-Levine, Alison; Thompson, Ashley S; Wang, Wenyi; Zambetti, Gerard P; Zelley, Kristin; James, Paul A; Savage, Sharon A; Kratz, Christian P; Spurdle, Amanda B

Childhood, adolescent, and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers

BRCA1或BRCA2致病变异携带者在儿童期、青少年期和青年期罹患癌症的风险

Li, Shuai; Madanat-Harjuoja, Laura; Leslie, Goska; Barnes, Daniel R; Bolla, Manjeet K; Dennis, Joe; Parsons, Michael T; Apostolou, Paraskevi; Arnold, Norbert; Bosse, Kristin; Cook, Jackie; Engel, Christoph; Evans, D Gareth; Fostira, Florentia; Frone, Megan N; Gehrig, Andrea; Greene, Mark H; Hackmann, Karl; Hahnen, Eric; Harbeck, Nadia; Hauke, Jan; Hentschel, Julia; Horvath, Judit; Izatt, Louise; Kiechle, Marion; Konstantopoulou, Irene; Lalloo, Fiona; Ngeow, Joanne; Niederacher, Dieter; Ritter, Julia; Santamariña, Marta; Schmutzler, Rita K; Searle, Claire; Sutter, Christian; Tischkowitz, Marc; Tripathi, Vishakha; Vega, Ana; Wallaschek, Hannah; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weber, Bernhard H F; Yannoukakos, Drakoulis; Zhao, Emily; Easton, Douglas F; Antoniou, Antonis C; Chenevix-Trench, Georgia; Rebbeck, Timothy R; Diller, Lisa R

Isolation of Cellulose Nanofibers from Kombucha Beverage By-Product by Chemo-Mechanical Routes

利用化学机械法从康普茶饮料副产品中分离纤维素纳米纤维

Uşurelu, Cătălina-Diana; Oprică, Gabriela-Mădălina; Panaitescu, Denis Mihaela; Frone, Adriana Nicoleta; Damian, Celina Maria; Nicolae, Cristian Andi; Dima, Ştefan-Ovidiu; Oancea, Florin; Teodorescu, Mircea

Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer

一项针对398,238名女性的全基因组关联研究揭示了与高级别浆液性卵巢癌相关的七个基因位点

Barnes, Daniel R; Tyrer, Jonathan P; Dennis, Joe; Leslie, Goska; Bolla, Manjeet K; Lush, Michael; Aeilts, Amber M; Aittomäki, Kristiina; Andrieu, Nadine; Andrulis, Irene L; Anton-Culver, Hoda; Arason, Adalgeir; Arun, Banu K; Balmaña, Judith; Bandera, Elisa V; Barkardottir, Rosa B; Berger, Lieke P V; Berrington de Gonzalez, Amy; Berthet, Pascaline; Białkowska, Katarzyna; Bjørge, Line; Blanco, Amie M; Blok, Marinus J; Bobolis, Kristie A; Bogdanova, Natalia V; Brenton, James D; Butz, Henriett; Buys, Saundra S; Caligo, Maria A; Campbell, Ian; Castillo, Carmen; Claes, Kathleen B M; Colonna, Sarah V; Cook, Linda S; Daly, Mary B; Dansonka-Mieszkowska, Agnieszka; de la Hoya, Miguel; deFazio, Anna; DePersia, Allison; Ding, Yuan Chun; Doherty, Jennifer A; Domchek, Susan M; Dörk, Thilo; Einbeigi, Zakaria; Engel, Christoph; Evans, D Gareth; Foretova, Lenka; Fortner, Renée T; Fostira, Florentia; Foti, Maria Cristina; Friedman, Eitan; Frone, Megan N; Ganz, Patricia A; Gentry-Maharaj, Aleksandra; Glendon, Gord; Godwin, Andrew K; González-Neira, Anna; Greene, Mark H; Gronwald, Jacek; Guerrieri-Gonzaga, Aliana; Hamann, Ute; Hansen, Thomas V O; Harris, Holly R; Hauke, Jan; Heitz, Florian; Hogervorst, Frans B L; Hooning, Maartje J; Hopper, John L; Huff, Chad D; Huntsman, David G; Imyanitov, Evgeny N; Izatt, Louise; Jakubowska, Anna; James, Paul A; Janavicius, Ramunas; John, Esther M; Kar, Siddhartha; Karlan, Beth Y; Kennedy, Catherine J; Kiemeney, Lambertus A L M; Konstantopoulou, Irene; Kupryjanczyk, Jolanta; Laitman, Yael; Lavie, Ofer; Lawrenson, Kate; Lester, Jenny; Lesueur, Fabienne; Lopez-Pleguezuelos, Carlos; Mai, Phuong L; Manoukian, Siranoush; May, Taymaa; McNeish, Iain A; Menon, Usha; Milne, Roger L; Modugno, Francesmary; Mongiovi, Jennifer M; Montagna, Marco; Moysich, Kirsten B; Neuhausen, Susan L; Nielsen, Finn C; Noguès, Catherine; Oláh, Edit; Olopade, Olufunmilayo I; Osorio, Ana; Papi, Laura; Pathak, Harsh; Pearce, Celeste L; Pedersen, Inge S; Peixoto, Ana; Pejovic, Tanja; Peng, Pei-Chen; Peshkin, Beth N; Peterlongo, Paolo; Powell, C Bethan; Prokofyeva, Darya; Pujana, Miquel Angel; Radice, Paolo; Rashid, Muhammad U; Rennert, Gad; Richenberg, George; Sandler, Dale P; Sasamoto, Naoko; Setiawan, Veronica W; Sharma, Priyanka; Sieh, Weiva; Singer, Christian F; Snape, Katie; Sokolenko, Anna P; Soucy, Penny; Southey, Melissa C; Stoppa-Lyonnet, Dominique; Sutphen, Rebecca; Sutter, Christian; Tan, Yen Y; Teixeira, Manuel R; Terry, Kathryn L; Thomsen, Liv Cecilie V; Tischkowitz, Marc; Toland, Amanda E; Van Gorp, Toon; Vega, Ana; Velez Edwards, Digna R; Webb, Penelope M; Weitzel, Jeffrey N; Wentzensen, Nicolas; Whittemore, Alice S; Winham, Stacey J; Wu, Anna H; Yadav, Siddhartha; Yu, Yao; Ziogas, Argyrios; Berchuck, Andrew; Couch, Fergus J; Goode, Ellen L; Goodman, Marc T; Monteiro, Alvaro N; Offit, Kenneth; Ramus, Susan J; Risch, Harvey A; Schildkraut, Joellen M; Thomassen, Mads; Simard, Jacques; Easton, Douglas F; Jones, Michelle R; Chenevix-Trench, Georgia; Gayther, Simon A; Antoniou, Antonis C; Pharoah, Paul D P

Influence of Cold Plasma Treatment on Cellulose Modification with Different Oxidizing Agents

冷等离子体处理对不同氧化剂改性纤维素的影响

Panaitescu, Denis Mihaela; Vizireanu, Sorin Ionuţ; Oprică, Gabriela Mădălina; Uşurelu, Cătălina Diana; Stancu, Cristian; Sătulu, Veronica; Ghiurea, Marius; Nicolae, Cristian-Andi; Raduly, Monica Florentina; Frone, Adriana Nicoleta

Symposium report-ethical and social considerations regarding return of secondary findings in atomic bomb survivors

研讨会报告——关于向原子弹幸存者报告次要发现的伦理和社会考量

Yoshida, Noriaki; Stewart, Douglas R; Uchimura, Arikuni; Arita, Ken-Ichi; Bombard, Yvonne; Frone, Megan; Hinoi, Takao; Kamiya, Kenji; Katamine, Shigeru; Kayukawa, Junji; Kodama, Kazunori; Miller, David T; Miura, Kiyonori; Muto, Kaori; Nagami, Fuji; Nakagawa, Hidewaki; Noda, Asao; Ohishi, Waka; Tanabe, Osamu; Terao, Chikashi; Rajaraman, Preetha; Kato, Kazuto; Biesecker, Leslie G

Spectrum and Excess Risk of Gastrointestinal Tumors in Li-Fraumeni Syndrome

李-弗劳梅尼综合征患者胃肠道肿瘤的谱系及额外风险

Hatton, Jessica N; de Andrade, Kelvin C; Frone, Megan N; Savage, Sharon A; Khincha, Payal P