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

Quantifying lifetime risk for 1,401 infectious diseases across the diabetes spectrum using a Bayesian approach

采用贝叶斯方法量化糖尿病谱系中 1401 种传染病的终生风险

Olsen, Boomer B; Tristani-Firouzi, Martin; Eilbeck, Karen; Yandell, Mark; Hernandez, Edgar Javier

Signatures of sex ratio distortion in humans

人类性别比例失衡的特征

Baldwin-Brown, James G; Wesolowski, Sergiusz; Zimmerman, Raquel Mae; Peterson, Bennet; Tristani-Firouzi, Martin; Hernandez, Edgar Havier; Aston, Kenneth I; Yandell, Mark; Phadnis, Nitin

Clinical risk factors predicting likelihood of pathogenic genetic result in NICU patients

预测新生儿重症监护病房患者致病基因结果可能性的临床风险因素

Bonkowsky, Joshua L; Zoucha, Samuel B; Jensen, Jenna; Wilkes, Jacob; Palmquist, Rachel N; Yandell, Mark; Tristani-Firouzi, Martin

A machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unit

机器学习决策支持工具优化新生儿重症监护病房中全基因组测序(WGS)的使用

Juarez, Edwin F; Peterson, Bennet; Sanford Kobayashi, Erica; Gilmer, Sheldon; Tobin, Laura E; Schultz, Brandan; Lenberg, Jerica; Carroll, Jeanne; Bai-Tong, Shiyu; Sweeney, Nathaly M; Beebe, Curtis; Stewart, Lawrence; Olsen, Lauren; Reinke, Julie; Kiernan, Elizabeth A; Reimers, Rebecca; Wigby, Kristen; Tackaberry, Chris; Yandell, Mark; Hobbs, Charlotte; Bainbridge, Matthew N

Recessive genetic contribution to congenital heart disease in 5,424 probands

5424例先证者中隐性遗传因素对先天性心脏病的影响

Dong, Weilai; Jin, Sheng Chih; Sierant, Michael C; Lu, Ziyu; Li, Boyang; Lu, Qiongshi; Morton, Sarah U; Zhang, Junhui; López-Giráldez, Francesc; Nelson-Williams, Carol; Knight, James R; Zhao, Hongyu; Cao, Junyue; Mane, Shrikant; Gruber, Peter J; Lek, Monkol; Goldmuntz, Elizabeth; Deanfield, John; Giardini, Alessandro; Mital, Seema; Russell, Mark; Gaynor, J William; Cnota, James F; Wagner, Michael; Srivastava, Deepak; Bernstein, Daniel; Porter, George A Jr; Newburger, Jane; Roberts, Amy E; Yandell, Mark; Yost, H Joseph; Tristani-Firouzi, Martin; Kim, Richard; Seidman, Jonathan; Chung, Wendy K; Gelb, Bruce D; Seidman, Christine E; Lifton, Richard P; Brueckner, Martina

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes

对 11,555 名先证者的基因组分析鉴定出 60 个显性先天性心脏病基因

Sierant, Michael C; Jin, Sheng Chih; Bilguvar, Kaya; Morton, Sarah U; Dong, Weilai; Jiang, Wei; Lu, Ziyu; Li, Boyang; López-Giráldez, Francesc; Tikhonova, Irina; Zeng, Xue; Lu, Qiongshi; Choi, Jungmin; Zhang, Junhui; Nelson-Williams, Carol; Knight, James R; Zhao, Hongyu; Cao, Junyue; Mane, Shrikant; Sedore, Stanley C; Gruber, Peter J; Lek, Monkol; Goldmuntz, Elizabeth; Deanfield, John; Giardini, Alessandro; Mital, Seema; Russell, Mark; Gaynor, J William; King, Eileen; Wagner, Michael; Srivastava, Deepak; Shen, Yufeng; Bernstein, Daniel; Porter, George A Jr; Newburger, Jane W; Seidman, Jonathan G; Roberts, Amy E; Yandell, Mark; Yost, H Joseph; Tristani-Firouzi, Martin; Kim, Richard; Chung, Wendy K; Gelb, Bruce D; Seidman, Christine E; Brueckner, Martina; Lifton, Richard P

Breast Cancer Is Increased in Women With Primary Ovarian Insufficiency

原发性卵巢功能不全的女性患乳腺癌的风险增加

Allen-Brady, Kristina; Moore, Barry; Verrilli, Lauren E; Alvord, Margaret A; Kern, Marina; Camp, Nicola; Kelley, Kristen; Letourneau, Joseph; Cannon-Albright, Lisa; Yandell, Mark; Johnstone, Erica B; Welt, Corrine K

The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit

犹他州NeoSeq项目:一项旨在促进新生儿重症监护病房基因组诊断的多学科合作项目

Malone Jenkins, Sabrina; Palmquist, Rachel N; Moore, Barry; Boyden, Steven E; Nicholas, Thomas J; Bayrak-Toydemir, Pinar; Mao, Rong; Farrell, J Andrew R; Holt, Carson H; Rynearson, Shawn G; Solorzano, Chelsea M; Ward, Alistair; Best, D Hunter; Al-Sweel, Najla; Bentley, Dawn L; Brunelli, Luca; Chow, Clement Y; Close, Devin W; Cormier, Michael J; Deshotel, Malia J; Durtschi, Jacob; Eide, Erik J; Floyd, Luaiva; Fredrickson, Eric K; Fulmer, Makenzie L; Hernandez, Edgar J; Kapron, Ashley L; Karren, Mary Anne; Lewis, Robert G; Miller, Christine E; Murtaugh, L Charles; Nicholson, Kelsey E; Noble, Katherine; O'Fallon, Brendan D; O'Shea, John M; Pattison, David C; Pedersen, Brent S; Petersen, Brandy J; Peterson, Bennet D; Pizzo, Lucilla; Reynolds, Hayley M; Rindler, Paul; Torr, Carrie B; Wen, Ting; Yost, H Joseph; Zhao, Jian; Yandell, Mark; Marth, Gabor T; Quinlan, Aaron R; Carey, John C; Shayota, Brian J; Tristani-Firouzi, Martin; Bonkowsky, Joshua L

MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission

MPSE可在新生儿重症监护室入院48小时内识别需要进行全基因组测序的新生儿。

Peterson, Bennet; Juarez, Edwin F; Moore, Barry; Hernandez, Edgar Javier; Frise, Erwin; Li, Jianrong; Lussier, Yves; Tristani-Firouzi, Martin; Reese, Martin G; Malone Jenkins, Sabrina; Kingsmore, Stephen F; Bainbridge, Matthew N; Yandell, Mark

Explainable artificial intelligence for stroke risk stratification in atrial fibrillation

可解释人工智能在房颤患者卒中风险分层中的应用

Zimmerman, Raquel Mae; Hernandez, Edgar J; Tristani-Firouzi, Martin; Yandell, Mark; Steinberg, Benjamin A