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

Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease

在制定冯·希佩尔-林道综合征 (VHL) 的 ACMG/AMP 规范中采用多平台管理

Ritter, D I; Badduke, C; Doonanco, K; Kang, H C; Pesaran, T; Ridd, S; Sheen, C; Farncombe, K M; Giles, R H; Luo, M; Pipko, N; Tsoi, C T; McGoldrick, K; Mighton, C; Abu Kashabeh, R H; Sanabria-Salas, M C; Talab, Y; Deka, K B; Jacobs, M F; Tuzlali, E; Gallinger, B; Griffith, M; Krysiak, K; Machado, J; Maher, E R; Tirosh, A; Kim, R H

Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

对孤立性颈项透明层增厚进行胎儿外显子组测序:我们应该这样做吗?

Mellis, R; Eberhardt, R Y; Hamilton, S J; McMullan, D J; Kilby, M D; Maher, E R; Hurles, M E; Giordano, J L; Aggarwal, V; Goldstein, D B; Wapner, R J; Chitty, L S

Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis

胎儿水肿与下一代测序相对于标准产前诊断检测的增量收益(FIND)研究:前瞻性队列研究和荟萃分析

Mone, F; Eberhardt, R Y; Hurles, M E; Mcmullan, D J; Maher, E R; Lord, J; Chitty, L S; Dempsey, E; Homfray, T; Giordano, J L; Wapner, R J; Sun, L; Sparks, T N; Norton, M E; Kilby, M D

Rapid disease progression in a patient with mismatch repair-deficient and cortisol secreting adrenocortical carcinoma treated with pembrolizumab

接受帕博利珠单抗治疗的错配修复缺陷型皮质醇分泌型肾上腺皮质癌患者病情迅速进展

Casey, R T; Giger, O; Seetho, I; Marker, A; Pitfield, D; Boyle, L H; Gurnell, M; Shaw, A; Tischkowitz, M; Maher, E R; Chatterjee, V K; Janowitz, T; Mells, G; Corrie, P; Challis, B G

Genome-wide DNA methylation profiling of recurrent and non-recurrent chordomas.

复发性和非复发性脊索瘤的全基因组DNA甲基化谱分析

Alholle A, Brini A T, Bauer J, Gharanei S, Niada S, Slater A, Gentle D, Maher E R, Jeys L, Grimer R, Sumathi V P, Latif F

A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis

两例先天性鱼鳞病家族中发现一种新的ABCA12基因突变

Walsh, D M; Shah, S H; Simpson, M A; Morgan, N V; Khaliq, S; Trembath, R C; Mehdi, S Q; Maher, E R

Epigenotype-phenotype correlations in Silver-Russell syndrome

Silver-Russell综合征的表观基因型-表型相关性

Wakeling, E L; Amero, S Abu; Alders, M; Bliek, J; Forsythe, E; Kumar, S; Lim, D H; MacDonald, F; Mackay, D J; Maher, E R; Moore, G E; Poole, R L; Price, S M; Tangeraas, T; Turner, C L S; Van Haelst, M M; Willoughby, C; Temple, I K; Cobben, J M

Epigenetic regulation of the ras effector/tumour suppressor RASSF2 in breast and lung cancer.

乳腺癌和肺癌中ras效应因子/肿瘤抑制因子RASSF2的表观遗传调控

Cooper W N, Dickinson R E, Dallol A, Grigorieva E V, Pavlova T V, Hesson L B, Bieche I, Broggini M, Maher E R, Zabarovsky E R, Clark G J, Latif F

Functional epigenomics approach to identify methylated candidate tumour suppressor genes in renal cell carcinoma

利用功能表观基因组学方法鉴定肾细胞癌中甲基化的候选抑癌基因

Morris, M R; Gentle, D; Abdulrahman, M; Clarke, N; Brown, M; Kishida, T; Yao, M; Teh, B T; Latif, F; Maher, E R

Age related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms

NF2基因种系和体细胞突变谱随年龄的变化:DNA修复机制的假说作用

Evans, D G R; Maher, E R; Baser, M E