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

Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants

有害的生殖系CHEK2变异导致血液系统恶性肿瘤的易感性

Stubbins, Ryan J; Arnovitz, Stephen; Vagher, Jennie; Asom, Anase; Perpich, Melody; Pies, Madeline; Akpan, Imo J; Chew, Edward; Bridgers, Joshua; Karsan, Aly; Rodgers, Courtnee; Koppayi, Ashwin; Basdag, Hatice; Drazer, Michael W; Das, Soma; Cheng, Jason; Osman, Afaf E G; Godley, Lucy A

Identification of 2 novel noncoding variants in patients with Diamond-Blackfan anemia syndrome by whole genome sequencing

通过全基因组测序在Diamond-Blackfan贫血综合征患者中鉴定出2个新的非编码变异

Wen, Ting; Boyden, Steven E; Hocutt, Caleb M; Lewis, Robert G; Baldwin, Erin E; Vagher, Jennie; Andrews, Ashley; Nicholas, Thomas J; Chapin, Alexander; Fan, Elaine M; Botto, Lorenzo D; Bayrak-Toydemir, Pinar; Mao, Rong; Meznarich, Jessica A

Parental perspectives on the use of tumor molecular profiling and germline genetic testing during their children's cancer treatment

父母对儿童癌症治疗期间使用肿瘤分子谱分析和生殖系基因检测的看法

Sleiman, Marcelo M Jr; Statman, Muriel R; Yockel, Mary Rose; Wu, Yelena P; Hamilton, Jada G; Kohlmann, Wendy K; Vagher, Jennie; Feola, Soren; Maese, Luke D; Chen, Jing; Appel, Burton; Mehrhoff, Casey J; Peshkin, Beth N; Kadan-Lottick, Nina S; Kupfer, Gary M; Tercyak, Kenneth P

Variation at the R181 residue of p53 confers loss of p53 DNA binding cooperativity with the retention of mitochondrial-associated apoptosis.

p53 R181 残基的变异导致 p53 DNA 结合协同作用丧失,但线粒体相关细胞凋亡仍得以保留

Moses Renyta, Indeglia Alexandra, Levine Alison S, Hausler Ryan, Kelly Gregory, Miller Sven A, Anez Isabel, Heller Melissa, Delgado Rosella, Orr Caitlin, Kohlmann Wendy, Naumer Anne, Vagher Jennie, Cahill Sophie R, Maese Luke D, Karanicolas John, Garber Judy E, Murphy Maureen E, Maxwell Kara N

Newborn Screening for Li-Fraumeni Syndrome: Patient Perspectives

新生儿李-弗劳梅尼综合征筛查:患者视角

Beigh, Makenna; Vagher, Jennie; Codden, Rachel; Maese, Luke D; Cook, Sabina; Gammon, Amanda

Non-Melanoma Skin Cancers and Other Cutaneous Manifestations in Bone Marrow Failure Syndromes and Rare DNA Repair Disorders

骨髓衰竭综合征和罕见DNA修复障碍中的非黑色素瘤皮肤癌和其他皮肤表现

Vagher, Jennie; Gammon, Amanda; Kohlmann, Wendy; Jeter, Joanne

Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series

在具有遗传性平滑肌瘤病和肾细胞癌(HLRCC)临床特征的患者中发现的富马酸水合酶基因罕见变异:病例系列

Franke, Keith; Vagher, Jennie; Boyle, Julie; Hall, April; Smith-Simmer, Kelcy

Inherited TP53 Variants and Risk of Prostate Cancer

遗传性TP53变异与前列腺癌风险

Maxwell, Kara N; Cheng, Heather H; Powers, Jacquelyn; Gulati, Roman; Ledet, Elisa M; Morrison, Casey; Le, Anh; Hausler, Ryan; Stopfer, Jill; Hyman, Sophie; Kohlmann, Wendy; Naumer, Anne; Vagher, Jennie; Greenberg, Samantha E; Naylor, Lorraine; Laurino, Mercy; Konnick, Eric Q; Shirts, Brian H; AlDubayan, Saud H; Van Allen, Eliezer M; Nguyen, Bastien; Vijai, Joseph; Abida, Wassim; Carlo, Maria I; Dubard-Gault, Marianne; Lee, Daniel J; Maese, Luke D; Mandelker, Diana; Montgomery, Bruce; Morris, Michael J; Nicolosi, Piper; Nussbaum, Robert L; Schwartz, Lauren E; Stadler, Zsofia; Garber, Judy E; Offit, Kenneth; Schiffman, Joshua D; Nelson, Peter S; Sartor, Oliver; Walsh, Michael F; Pritchard, Colin C

Lung Cancer in Li-Fraumeni Syndrome

李-弗劳梅尼综合征中的肺癌

Kerrigan, Kathleen; Chan, Jessica; Vagher, Jennie; Kohlmann, Wendy; Naumer, Anne; Anson, Jo; Low, Sara; Schiffman, Joshua; Maese, Luke

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

利用捕获式RNA测序技术分析剪接谱,可识别肿瘤抑制基因中的致病性种系变异。

Landrith, Tyler; Li, Bing; Cass, Ashley A; Conner, Blair R; LaDuca, Holly; McKenna, Danielle B; Maxwell, Kara N; Domchek, Susan; Morman, Nichole A; Heinlen, Christopher; Wham, Deborah; Koptiuch, Cathryn; Vagher, Jennie; Rivera, Ragene; Bunnell, Ann; Patel, Gayle; Geurts, Jennifer L; Depas, Morgan M; Gaonkar, Shraddha; Pirzadeh-Miller, Sara; Krukenberg, Rebekah; Seidel, Meredith; Pilarski, Robert; Farmer, Meagan; Pyrtel, Khateriaa; Milliron, Kara; Lee, John; Hoodfar, Elizabeth; Nathan, Deepika; Ganzak, Amanda C; Wu, Sitao; Vuong, Huy; Xu, Dong; Arulmoli, Aarani; Parra, Melissa; Hoang, Lily; Molparia, Bhuvan; Fennessy, Michele; Fox, Susanne; Charpentier, Sinead; Burdette, Julia; Pesaran, Tina; Profato, Jessica; Smith, Brandon; Haynes, Ginger; Dalton, Emily; Crandall, Joy Rae-Radecki; Baxter, Ruth; Lu, Hsiao-Mei; Tippin-Davis, Brigette; Elliott, Aaron; Chao, Elizabeth; Karam, Rachid