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

Associations of local breast density with patient characteristics and risk of breast cancer among women undergoing diagnostic breast biopsy

局部乳腺密度与患者特征及接受诊断性乳腺活检的女性乳腺癌风险之间的关联

Burke, Aileen; Fan, Shaoqi; Pfeiffer, Ruth M; Bodelon, Clara; Chan, Ariane H L; Hill, Melissa L; Khan, Nabeel; Tikhonov, Aristarkh; Harris, Alexandra R; Highnam, Ralph P; Vacek, Pamela M; Weaver, Donald L; Johnson, Jason M; Herschorn, Sally D; Sprague, Brian L; Sherman, Mark E; Mullooly, Maeve; Gierach, Gretchen L

Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans

基因启动子内的多态性串联重复序列在人类中作为基因表达和DNA甲基化的修饰因子发挥作用。

Quilez, Javier; Guilmatre, Audrey; Garg, Paras; Highnam, Gareth; Gymrek, Melissa; Erlich, Yaniv; Joshi, Ricky S; Mittelman, David; Sharp, Andrew J

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

TAF1变异与面部畸形、智力障碍和神经系统症状相关

O'Rawe, Jason A; Wu, Yiyang; Dörfel, Max J; Rope, Alan F; Au, P Y Billie; Parboosingh, Jillian S; Moon, Sungjin; Kousi, Maria; Kosma, Konstantina; Smith, Christopher S; Tzetis, Maria; Schuette, Jane L; Hufnagel, Robert B; Prada, Carlos E; Martinez, Francisco; Orellana, Carmen; Crain, Jonathan; Caro-Llopis, Alfonso; Oltra, Silvestre; Monfort, Sandra; Jiménez-Barrón, Laura T; Swensen, Jeffrey; Ellingwood, Sara; Smith, Rosemarie; Fang, Han; Ospina, Sandra; Stegmann, Sander; Den Hollander, Nicolette; Mittelman, David; Highnam, Gareth; Robison, Reid; Yang, Edward; Faivre, Laurence; Roubertie, Agathe; Rivière, Jean-Baptiste; Monaghan, Kristin G; Wang, Kai; Davis, Erica E; Katsanis, Nicholas; Kalscheuer, Vera M; Wang, Edith H; Metcalfe, Kay; Kleefstra, Tjitske; Innes, A Micheil; Kitsiou-Tzeli, Sophia; Rosello, Monica; Keegan, Catherine E; Lyon, Gholson J

Tandem repeat variation in human and great ape populations and its impact on gene expression divergence

人类和类人猿种群中串联重复序列的变异及其对基因表达差异的影响

Bilgin Sonay, Tugce; Carvalho, Tiago; Robinson, Mark D; Greminger, Maja P; Krützen, Michael; Comas, David; Highnam, Gareth; Mittelman, David; Sharp, Andrew; Marques-Bonet, Tomàs; Wagner, Andreas

Deep phylogenetic analysis of haplogroup G1 provides estimates of SNP and STR mutation rates on the human Y-chromosome and reveals migrations of Iranic speakers

对单倍群G1的深入系统发育分析提供了人类Y染色体上SNP和STR突变率的估计值,并揭示了伊朗语族人群的迁徙情况。

Balanovsky, Oleg; Zhabagin, Maxat; Agdzhoyan, Anastasiya; Chukhryaeva, Marina; Zaporozhchenko, Valery; Utevska, Olga; Highnam, Gareth; Sabitov, Zhaxylyk; Greenspan, Elliott; Dibirova, Khadizhat; Skhalyakho, Roza; Kuznetsova, Marina; Koshel, Sergey; Yusupov, Yuldash; Nymadawa, Pagbajabyn; Zhumadilov, Zhaxybay; Pocheshkhova, Elvira; Haber, Marc; Zalloua, Pierre A; Yepiskoposyan, Levon; Dybo, Anna; Tyler-Smith, Chris; Balanovska, Elena

Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines

205个黑腹果蝇遗传参考面板品系基因组结构的自然变异

Huang, Wen; Massouras, Andreas; Inoue, Yutaka; Peiffer, Jason; Ràmia, Miquel; Tarone, Aaron M; Turlapati, Lavanya; Zichner, Thomas; Zhu, Dianhui; Lyman, Richard F; Magwire, Michael M; Blankenburg, Kerstin; Carbone, Mary Anna; Chang, Kyle; Ellis, Lisa L; Fernandez, Sonia; Han, Yi; Highnam, Gareth; Hjelmen, Carl E; Jack, John R; Javaid, Mehwish; Jayaseelan, Joy; Kalra, Divya; Lee, Sandy; Lewis, Lora; Munidasa, Mala; Ongeri, Fiona; Patel, Shohba; Perales, Lora; Perez, Agapito; Pu, LingLing; Rollmann, Stephanie M; Ruth, Robert; Saada, Nehad; Warner, Crystal; Williams, Aneisa; Wu, Yuan-Qing; Yamamoto, Akihiko; Zhang, Yiqing; Zhu, Yiming; Anholt, Robert R H; Korbel, Jan O; Mittelman, David; Muzny, Donna M; Gibbs, Richard A; Barbadilla, Antonio; Johnston, J Spencer; Stone, Eric A; Richards, Stephen; Deplancke, Bart; Mackay, Trudy F C

The landscape of human STR variation

人类STR变异图谱

Willems, Thomas; Gymrek, Melissa; Highnam, Gareth; Mittelman, David; Erlich, Yaniv

Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles

利用知情错误谱从高通量重测序数据中获得准确的人类微卫星基因型

Highnam, Gareth; Franck, Christopher; Martin, Andy; Stephens, Calvin; Puthige, Ashwin; Mittelman, David

Rapid multiplexed genotyping of simple tandem repeats using capture and high-throughput sequencing

使用捕获和高通量测序对简单串联重复进行快速多重基因分型

Audrey Guilmatre, Gareth Highnam, Christelle Borel, David Mittelman, Andrew J Sharp

Personal genomes and precision medicine

个人基因组和精准医疗

Highnam, Gareth; Mittelman, David