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

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.

同步长读长基因组、甲基化组、表观基因组和转录组分析揭示了孟德尔遗传病的成因

Vollger Mitchell R, Korlach Jonas, Eldred Kiara C, Swanson Elliott, Underwood Jason G, Bohaczuk Stephanie C, Mao Yizi, Cheng Yong-Han H, Ranchalis Jane, Blue Elizabeth E, Schwarze Ulrike, Munson Katherine M, Saunders Christopher T, Wenger Aaron M, Allworth Aimee, Chanprasert Sirisak, Duerden Brittney L, Glass Ian, Horike-Pyne Martha, Kim Michelle, Leppig Kathleen A, McLaughlin Ian J, Ogawa Jessica, Rosenthal Elisabeth A, Sheppeard Sam, Sherman Stephanie M, Strohbehn Samuel, Yuen Amy L, Stacey Andrew W, Reh Thomas A, Byers Peter H, Bamshad Michael J, Hisama Fuki M, Jarvik Gail P, Sancak Yasemin, Dipple Katrina M, Stergachis Andrew B

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

PLCG1 的杂合变异会影响听力、视力、心脏和免疫功能

Ma Mengqi, Zheng Yiming, Deng Mingxi, Lu Shenzhao, Pan Xueyang, Luo Xi, Etoundi Michelle, Li-Kroeger David, Worley Kim C, Burrage Lindsay C, Blieden Lauren S, Allworth Aimee, Chen Wei-Liang, Merla Giuseppe, Mandriani Barbara, Otten Catherine E, Blanc Pierre, Rosenfeld Jill A, Dutta Debdeep, Yamamoto Shinya, Wangler Michael F, Glass Ian A, Chen Jingheng, Blue Elizabeth, Prontera Paolo, Rosain Jeremie, Marlin Sandrine, Lalani Seema R, Bellen Hugo J

Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation

VARS2 中的新变异揭示了一种罕见线粒体病的表型变异性,该病对缬氨酸补充剂有反应

Marquez, Jonathan; Viviano, Stephen; Rahman, Fahmid; Strohbehn, Samuel D; Allworth, Aimee; Perez, Norma; Saneto, Russell P; Anna, Scott 1st; Penón Portmann, Mónica; Blue, Elizabeth E; Glass, Ian A; Deniz, Engin; Shelkowitz, Emily

Footrot in sheep and goats: a case study

绵羊和山羊蹄腐病:案例研究

Robertson, S M; Allworth, M B

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

PLCG1基因的杂合变异会影响听力、视力、心脏和免疫功能。

Ma, Mengqi; Zheng, Yiming; Deng, Mingxi; Lu, Shenzhao; Pan, Xueyang; Luo, Xi; Etoundi, Michelle; Li-Kroeger, David; Worley, Kim C; Burrage, Lindsay C; Blieden, Lauren S; Allworth, Aimee; Chen, Wei-Liang; Merla, Giuseppe; Mandriani, Barbara; Otten, Catherine E; Blanc, Pierre; Rosenfeld, Jill A; Dutta, Debdeep; Yamamoto, Shinya; Wangler, Michael F; Glass, Ian A; Chen, Jingheng; Blue, Elizabeth; Prontera, Paolo; Rosain, Jeremie; Marlin, Sandrine; Lalani, Seema R; Bellen, Hugo J

Estimating body composition using CT scans of cross-bred lambs fed at 2 feeding levels and 2 stages of maturity to inform predictive growth models

利用CT扫描对两种饲喂水平和两种成熟阶段的杂交羔羊进行体成分估算,以构建预测生长模型

Keogh, Thomas P; McGrath, Shawn R; Allworth, Maxwell B; Oddy, Victor H

Peri-parturient ewe mortality in commercial, southern Australian, non-Merino ewe flocks: establishing the frequency and investigating causes

澳大利亚南部商业化非美利奴母羊群围产期母羊死亡率:确定其发生频率并调查其原因

McQuillan, M C; Glanville, E; Jacobson, C; Sherriff, L; McGill, D M; Whale, A; Allworth, M B

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

UQCRFS1相关线粒体复合物III缺乏症和隐性GJA8相关白内障的双重诊断

Blue, Elizabeth E; Huang, Samuel J; Khan, Alyna; Golden-Grant, Katie; Boyd, Brenna; Rosenthal, Elisabeth A; Gillentine, Madelyn A; Fleming, Leah R; Adams, David R; Wolfe, Lynne; Allworth, Aimee; Bamshad, Michael J; Caruana, Nikeisha J; Chanprasert, Sirisak; Chen, Jingheng; Dargie, Nitsuh; Doherty, Daniel; Friederich, Marisa W; Hisama, Fuki M; Horike-Pyne, Martha; Lee, Jessica C; Donovan, Tonia E; Hock, Daniella H; Leppig, Kathleen A; Miller, Danny E; Mirzaa, Ghayda; Ranchalis, Jane; Raskind, Wendy H; Michel, Cole R; Reisdorph, Richard; Schwarze, Ulrike; Sheppeard, Sam; Strohbehn, Samuel; Stroud, David A; Sybert, Virginia P; Wener, Mark H; Stergachis, Andrew B; Lam, Christina T; Jarvik, Gail P; Dipple, Katrina M; Van Hove, Johan L K; Glass, Ian A

Returning integrated genomic risk and clinical recommendations: The eMERGE study

整合基因组风险和临床建议:eMERGE 研究

Linder, Jodell E; Allworth, Aimee; Bland, Harris T; Caraballo, Pedro J; Chisholm, Rex L; Clayton, Ellen Wright; Crosslin, David R; Dikilitas, Ozan; DiVietro, Alanna; Esplin, Edward D; Forman, Sophie; Freimuth, Robert R; Gordon, Adam S; Green, Richard; Harden, Maegan V; Holm, Ingrid A; Jarvik, Gail P; Karlson, Elizabeth W; Labrecque, Sofia; Lennon, Niall J; Limdi, Nita A; Mittendorf, Kathleen F; Murphy, Shawn N; Orlando, Lori; Prows, Cynthia A; Rasmussen, Luke V; Rasmussen-Torvik, Laura; Rowley, Robb; Sawicki, Konrad Teodor; Schmidlen, Tara; Terek, Shannon; Veenstra, David; Velez Edwards, Digna R; Absher, Devin; Abul-Husn, Noura S; Alsip, Jorge; Bangash, Hana; Beasley, Mark; Below, Jennifer E; Berner, Eta S; Booth, James; Chung, Wendy K; Cimino, James J; Connolly, John; Davis, Patrick; Devine, Beth; Fullerton, Stephanie M; Guiducci, Candace; Habrat, Melissa L; Hain, Heather; Hakonarson, Hakon; Harr, Margaret; Haverfield, Eden; Hernandez, Valentina; Hoell, Christin; Horike-Pyne, Martha; Hripcsak, George; Irvin, Marguerite R; Kachulis, Christopher; Karavite, Dean; Kenny, Eimear E; Khan, Atlas; Kiryluk, Krzysztof; Korf, Bruce; Kottyan, Leah; Kullo, Iftikhar J; Larkin, Katie; Liu, Cong; Malolepsza, Edyta; Manolio, Teri A; May, Thomas; McNally, Elizabeth M; Mentch, Frank; Miller, Alexandra; Mooney, Sean D; Murali, Priyanka; Mutai, Brenda; Muthu, Naveen; Namjou, Bahram; Perez, Emma F; Puckelwartz, Megan J; Rakhra-Burris, Tejinder; Roden, Dan M; Rosenthal, Elisabeth A; Saadatagah, Seyedmohammad; Sabatello, Maya; Schaid, Dan J; Schultz, Baergen; Seabolt, Lynn; Shaibi, Gabriel Q; Sharp, Richard R; Shirts, Brian; Smith, Maureen E; Smoller, Jordan W; Sterling, Rene; Suckiel, Sabrina A; Thayer, Jeritt; Tiwari, Hemant K; Trinidad, Susan B; Walunas, Theresa; Wei, Wei-Qi; Wells, Quinn S; Weng, Chunhua; Wiesner, Georgia L; Wiley, Ken; Peterson, Josh F

Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores

教育、电子病历和基因组学网络:一项使用多基因风险评分的大规模临床试验面临的挑战和经验教训

Connolly, John J; Berner, Eta S; Smith, Maureen; Levy, Samuel; Terek, Shannon; Harr, Margaret; Karavite, Dean; Suckiel, Sabrina; Holm, Ingrid A; Dufendach, Kevin; Nelson, Catrina; Khan, Atlas; Chisholm, Rex L; Allworth, Aimee; Wei, Wei-Qi; Bland, Harris T; Clayton, Ellen Wright; Soper, Emily R; Linder, Jodell E; Limdi, Nita A; Miller, Alexandra; Nigbur, Scott; Bangash, Hana; Hamed, Marwan; Sherafati, Alborz; Lewis, Anna C F; Perez, Emma; Orlando, Lori A; Rakhra-Burris, Tejinder K; Al-Dulaimi, Mustafa; Cifric, Selma; Scherr, Courtney Lynam; Wynn, Julia; Hakonarson, Hakon; Sabatello, Maya