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

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

Human de novo mutation rates from a four-generation pedigree reference

来自四代家系参考的人类新生突变率

David Porubsky ,Harriet Dashnow # ,Thomas A Sasani # ,Glennis A Logsdon # ,Pille Hallast # ,Michelle D Noyes # ,Zev N Kronenberg # ,Tom Mokveld # ,Nidhi Koundinya ,Cillian Nolan ,Cody J Steely ,Andrea Guarracino ,Egor Dolzhenko ,William T Harvey ,William J Rowell ,Kirill Grigorev ,Thomas J Nicholas ,Michael E Goldberg ,Keisuke K Oshima ,Jiadong Lin ,Peter Ebert ,W Scott Watkins ,Tiffany Y Leung ,Vincent C T Hanlon ,Sean McGee ,Brent S Pedersen ,Hannah C Happ ,Hyeonsoo Jeong ,Katherine M Munson ,Kendra Hoekzema ,Daniel D Chan ,Yanni Wang ,Jordan Knuth ,Gage H Garcia ,Cairbre Fanslow ,Christine Lambert ,Charles Lee ,Joshua D Smith ,Shawn Levy ,Christopher E Mason ,Erik Garrison ,Peter M Lansdorp ,Deborah W Neklason ,Lynn B Jorde ,Aaron R Quinlan ,Michael A Eberle ,Evan E Eichler

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

Assessing MC1R Variants in Lentigo Maligna Melanoma within the Utah Population

评估犹他州人群恶性雀斑样黑色素瘤中的 MC1R 变异

Amanda Jiang,Annabelle Huntsman,Carly Becker,Bing-Jian Feng,Kayla Marks,Jessica Donigan,Keith L Duffy,Alice Frigerio,Douglas Grossman,Deborah W Neklason,Robert L Judson-Torres,Dekker C Deacon

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

Colonoscopy and Upper Endoscopy Surveillance in Lynch Syndrome: A Longitudinal Study From a Large Tertiary Healthcare System

林奇综合征患者的结肠镜检查和上消化道内镜监测:一项来自大型三级医疗保健系统的纵向研究

Gibson, Elena; Li, Haojia; Staub, Judith; Neklason, Deb; Keener, Megan; Kanth, Priyanka