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

BUB1B promotes homologous recombination‑mediated DNA damage repair in breast cancer cells through the PI3K/AKT signaling pathway.

BUB1B 通过 PI3K/AKT 信号通路促进乳腺癌细胞中同源重组介导的 DNA 损伤修复

Luo Xuewen, Wei Yuqin, Lin Hanxin, Xiao Ning, Zhao Wei

A Rational Approach to JAK2 Mutation Testing in Patients with Elevated Hemoglobin: Results from the JAK2 Prediction Cohort (JAKPOT) Study

对高血红蛋白患者进行JAK2突变检测的合理方法:JAK2预测队列(JAKPOT)研究的结果

Chin-Yee, Benjamin; Bhai, Pratibha; Cheong, Ian; Matyashin, Maxim; Hsia, Cyrus C; Kawata, Eri; Ho, Jenny M; Levy, Michael A; Stuart, Alan; Lin, Hanxin; Chin-Yee, Ian; Kadour, Mike; Sadikovic, Bekim; Lazo-Langner, Alejandro

Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory

利用新一代测序技术对实体瘤进行分子分型:来自临床实验室的经验

Bhai, Pratibha; Turowec, Jacob; Santos, Stephanie; Kerkhof, Jennifer; Pickard, LeeAnne; Foroutan, Aidin; Breadner, Daniel; Cecchini, Matthew; Levy, Michael A; Stuart, Alan; Welch, Stephen; Howlett, Christopher; Lin, Hanxin; Sadikovic, Bekim

Mutational Landscape of Patients Referred for Elevated Hemoglobin Level

因血红蛋白水平升高而被转诊患者的突变图谱

Bhai, Pratibha; Chin-Yee, Benjamin; Pope, Victor; Cheong, Ian; Matyashin, Maxim; Levy, Michael A; Foroutan, Aidin; Stuart, Alan; Hsia, Cyrus C; Lin, Hanxin; Sadikovic, Bekim; Chin-Yee, Ian

ANRIL regulates multiple molecules of pathogenetic significance in diabetic nephropathy

ANRIL 调控糖尿病肾病中多种具有致病意义的分子

Sooshtari, Parisa; Feng, Biao; Biswas, Saumik; Levy, Michael; Lin, Hanxin; Su, Zhaoliang; Chakrabarti, Subrata

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach

利用独特的基于下一代测序的方法分析加拿大家族性癌症综合征患者队列中的序列和拷贝数变异

Bhai, Pratibha; Levy, Michael A; Rooney, Kathleen; Carere, Deanna Alexis; Reilly, Jack; Kerkhof, Jennifer; Volodarsky, Michael; Stuart, Alan; Kadour, Mike; Panabaker, Karen; Schenkel, Laila C; Lin, Hanxin; Ainsworth, Peter; Sadikovic, Bekim

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

评估DNA甲基化表观遗传特征在42种孟德尔遗传性神经发育障碍的诊断和表型相关性

Aref-Eshghi, Erfan; Kerkhof, Jennifer; Pedro, Victor P; Barat-Houari, Mouna; Ruiz-Pallares, Nathalie; Andrau, Jean-Christophe; Lacombe, Didier; Van-Gils, Julien; Fergelot, Patricia; Dubourg, Christèle; Cormier-Daire, Valerie; Rondeau, Sophie; Lecoquierre, François; Saugier-Veber, Pascale; Nicolas, Gaël; Lesca, Gaetan; Chatron, Nicolas; Sanlaville, Damien; Vitobello, Antonio; Faivre, Laurence; Thauvin-Robinet, Christel; Laumonnier, Frederic; Raynaud, Martine; Alders, Mariëlle; Mannens, Marcel; Henneman, Peter; Hennekam, Raoul C; Velasco, Guillaume; Francastel, Claire; Ulveling, Damien; Ciolfi, Andrea; Pizzi, Simone; Tartaglia, Marco; Heide, Solveig; Héron, Delphine; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Afenjar, Alexandra; Bienvenu, Thierry; Campeau, Philippe M; Rousseau, Justine; Levy, Michael A; Brick, Lauren; Kozenko, Mariya; Balci, Tugce B; Siu, Victoria Mok; Stuart, Alan; Kadour, Mike; Masters, Jennifer; Takano, Kyoko; Kleefstra, Tjitske; de Leeuw, Nicole; Field, Michael; Shaw, Marie; Gecz, Jozef; Ainsworth, Peter J; Lin, Hanxin; Rodenhiser, David I; Friez, Michael J; Tedder, Matt; Lee, Jennifer A; DuPont, Barbara R; Stevenson, Roger E; Skinner, Steven A; Schwartz, Charles E; Genevieve, David; Sadikovic, Bekim

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

全基因组DNA甲基化检测在疑似遗传疾病但基因未明确的个体中的诊断价值

Aref-Eshghi, Erfan; Bend, Eric G; Colaiacovo, Samantha; Caudle, Michelle; Chakrabarti, Rana; Napier, Melanie; Brick, Lauren; Brady, Lauren; Carere, Deanna Alexis; Levy, Michael A; Kerkhof, Jennifer; Stuart, Alan; Saleh, Maha; Beaudet, Arthur L; Li, Chumei; Kozenko, Maryia; Karp, Natalya; Prasad, Chitra; Siu, Victoria Mok; Tarnopolsky, Mark A; Ainsworth, Peter J; Lin, Hanxin; Rodenhiser, David I; Krantz, Ian D; Deardorff, Matthew A; Schwartz, Charles E; Sadikovic, Bekim

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes

BAFopathies 的 DNA 甲基化表观遗传特征显示了 Coffin-Siris 综合征和 Nicolaides-Baraitser 综合征的诊断效用和功能连续性。

Aref-Eshghi, Erfan; Bend, Eric G; Hood, Rebecca L; Schenkel, Laila C; Carere, Deanna Alexis; Chakrabarti, Rana; Nagamani, Sandesh C S; Cheung, Sau Wai; Campeau, Philippe M; Prasad, Chitra; Siu, Victoria Mok; Brady, Lauren; Tarnopolsky, Mark A; Callen, David J; Innes, A Micheil; White, Susan M; Meschino, Wendy S; Shuen, Andrew Y; Paré, Guillaume; Bulman, Dennis E; Ainsworth, Peter J; Lin, Hanxin; Rodenhiser, David I; Hennekam, Raoul C; Boycott, Kym M; Schwartz, Charles E; Sadikovic, Bekim

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

基因组DNA甲基化特征可同时用于神经发育综合征的诊断和临床遗传变异分类

Aref-Eshghi, Erfan; Rodenhiser, David I; Schenkel, Laila C; Lin, Hanxin; Skinner, Cindy; Ainsworth, Peter; Paré, Guillaume; Hood, Rebecca L; Bulman, Dennis E; Kernohan, Kristin D; Boycott, Kym M; Campeau, Philippe M; Schwartz, Charles; Sadikovic, Bekim