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

Inherited genetic risk in stillbirth: A shared genomic segments analysis of high-risk pedigrees

死产的遗传风险:高风险家系共享基因组片段分析

Workalemahu, Tsegaselassie; Madsen, Michael J; Lopez, Sarah; Page, Jessica M; Blue, Nathan R; Avery, Cecile; Sargent, Rob; Yu, Zhe; Guinto, Emily; Branch, D Ware; Leisher, Susannah; Jorde, Lynn B; Quinlan, Aaron; Coon, Hilary; Varner, Michael W; Roberts, Claire T; Neklason, Deborah W; Camp, Nicola J; Silver, Robert M

Colibactin-associated mutations in the human colon appear to reflect anatomy and early exposure, not oncogenesis

人类结肠中与大肠杆菌素相关的突变似乎反映的是解剖结构和早期暴露情况,而非肿瘤发生。

Hiatt, Laurel; Peterson, Elizabeth V; Happ, Hannah C; Major-Mincer, Joshua; Avvaru, Akshay; Goclowski, Camila L; Garretson, Alexis; Sasani, Thomas A; Hotaling, James M; Neklason, Deborah W; Uchida, Amiko M; Quinlan, Aaron R

A family portrait of the genomic factors shaping tandem repeat mutagenesis

串联重复突变发生的基因组因素家族图景

Sasani, Thomas A; Goldberg, Michael E; Avvaru, Akshay K; Nicholas, Thomas J; Neklason, Deborah W; Dolzhenko, Egor; Mokveld, Tom; Munson, Katherine M; Hoekzema, Kendra; Ayllon, Marcelo; Kaufman, Eli J; Porubsky, David; Valdmanis, Paul N; Eichler, Evan E; Quinlan, Aaron R; Dashnow, Harriet

The Platinum Pedigree: a long-read benchmark for genetic variants

白金谱系:基因变异的长读长基准

Kronenberg, Zev; Nolan, Cillian; Porubsky, David; Mokveld, Tom; Rowell, William J; Lee, Sangjin; Dolzhenko, Egor; Chang, Pi-Chuan; Holt, James M; Saunders, Christopher T; Olson, Nathan D; Steely, Cody J; McGee, Sean; Guarracino, Andrea; Koundinya, Nidhi; Harvey, William T; Watkins, W Scott; Munson, Katherine M; Hoekzema, Kendra; Chua, Khi Pin; Chen, Xiao; Fanslow, Cairbre; Lambert, Christine; Dashnow, Harriet; Garrison, Erik; Smith, Joshua D; Lansdorp, Peter M; Zook, Justin M; Carroll, Andrew; Jorde, Lynn B; Neklason, Deborah W; Quinlan, Aaron R; Eichler, Evan E; Eberle, Michael A

Mapping genetic susceptibility to spontaneous preterm birth: analysis of Utah pedigrees to find inherited genetic factors

绘制自发性早产的遗传易感性图谱:分析犹他州家系以寻找遗传因素

Workalemahu, Tsegaselassie; Clark, Erin A S; Madsen, Michael J; Yu, Zhe; Dalton, Susan E; Esplin, M Sean; Manuck, Tracy; Neklason, Deborah; Wu, Chen-Han Wilfred; Jorde, Lynn B; Camp, Nicola J; Silver, Robert M; Varner, Michael W

Familial Risk of Hashimoto's Thyroiditis in a Large Genealogical Database

大型家谱数据库中桥本甲状腺炎的家族风险

Bujnis, Melissa; DeSalvo, Kelsey; Neklason, Deborah W; Madsen, Michael J; Jorde, Lynn B

Genetic resonance: dissecting the heritability and genetic correlations of human hearing acuity

遗传共振:剖析人类听力敏锐度的遗传性和遗传相关性

Duran, Jerry A; Watkins, W Scott; Neklason, Deborah W; Jorde, Lynn B

AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymer loci despite their low sequence complexity

对一个四代 CEPH/犹他州家系进行 AVITI 测序证实,尽管同聚物基因座的序列复杂性较低,但其突变率仍然很低。

Happ, Hannah C; Sasani, Thomas A; Warner, Derek; Neklason, Deborah W; Quinlan, Aaron R

Human acrocentric chromosome short arm de novo mutation and recombination

人类端着丝粒染色体短臂新生突变和重组

Lin, Jiadong; Mastrorosa, F Kumara; Noyes, Michelle D; Yoo, DongAhn; Rhie, Arang; Porubsky, David; Hoekzema, Kendra; Munson, Katherine M; Koundinya, Nidhi; Watkins, W Scott; Jorde, Lynn B; Quinlan, Aaron R; Neklason, Deborah W; Phillippy, Adam M; Eichler, Evan E

Germ Cell Mosaicism: A Rare Cause of Li-Fraumeni Recurrence Among Siblings

生殖细胞嵌合体:兄弟姐妹间李-弗劳梅尼综合征复发的罕见原因

Donovan, Lauren N; Kohlmann, Wendy; Snow, Angela K; Neklason, Deborah W; Schiffman, Joshua D; Maese, Luke